Incidental Mutation 'R9576:Dhx30'
| ID |
722292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx30
|
| Ensembl Gene |
ENSMUSG00000032480 |
| Gene Name |
DExH-box helicase 30 |
| Synonyms |
2810477H02Rik, helG, C130058C04Rik, Ddx30, DEAH (Asp-Glu-Ala-His) box polypeptide 30 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9576 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
109913387-109946728 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109916712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 601
(L601P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035055]
[ENSMUST00000062368]
[ENSMUST00000111991]
[ENSMUST00000163979]
[ENSMUST00000164930]
[ENSMUST00000165596]
[ENSMUST00000165876]
[ENSMUST00000196171]
[ENSMUST00000197928]
[ENSMUST00000198425]
[ENSMUST00000199498]
[ENSMUST00000199529]
[ENSMUST00000199693]
[ENSMUST00000200066]
|
| AlphaFold |
Q99PU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035055
|
| SMART Domains |
Protein: ENSMUSP00000035055
Gene: ENSMUSG00000032479
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
266 |
379 |
4.96e-7 |
PROSPERO |
|
low complexity region
|
401 |
420 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
439 |
550 |
4.96e-7 |
PROSPERO |
|
low complexity region
|
659 |
674 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
775 |
N/A |
INTRINSIC |
|
low complexity region
|
879 |
889 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
903 |
926 |
2e-12 |
PFAM |
|
Pfam:Tubulin-binding
|
965 |
995 |
4.9e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
996 |
1026 |
7.4e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
1027 |
1058 |
4.4e-15 |
PFAM |
|
low complexity region
|
1093 |
1108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062368
AA Change: L601P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062622
Gene: ENSMUSG00000032480
AA Change: L601P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
64 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
76 |
123 |
2.53e-5 |
PROSPERO |
|
low complexity region
|
217 |
228 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
268 |
314 |
2.53e-5 |
PROSPERO |
|
low complexity region
|
321 |
342 |
N/A |
INTRINSIC |
|
DEXDc
|
461 |
650 |
9.66e-29 |
SMART |
|
low complexity region
|
679 |
689 |
N/A |
INTRINSIC |
|
HELICc
|
711 |
816 |
1.63e-17 |
SMART |
|
HA2
|
879 |
969 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
984 |
1134 |
5.7e-9 |
PFAM |
|
low complexity region
|
1200 |
1208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111991
AA Change: L572P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107622
Gene: ENSMUSG00000032480
AA Change: L572P
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
47 |
94 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
239 |
285 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
292 |
313 |
N/A |
INTRINSIC |
|
DEXDc
|
432 |
621 |
9.66e-29 |
SMART |
|
low complexity region
|
650 |
660 |
N/A |
INTRINSIC |
|
HELICc
|
682 |
787 |
1.63e-17 |
SMART |
|
HA2
|
850 |
940 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
952 |
1106 |
2.1e-7 |
PFAM |
|
low complexity region
|
1171 |
1179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163979
|
| SMART Domains |
Protein: ENSMUSP00000129362
Gene: ENSMUSG00000032479
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
726 |
736 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
743 |
773 |
5.8e-16 |
PFAM |
|
Pfam:Tubulin-binding
|
774 |
804 |
2.2e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
805 |
836 |
1.6e-11 |
PFAM |
|
low complexity region
|
871 |
886 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164930
|
| SMART Domains |
Protein: ENSMUSP00000131285
Gene: ENSMUSG00000032479
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
726 |
736 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
743 |
773 |
6e-16 |
PFAM |
|
Pfam:Tubulin-binding
|
774 |
804 |
4.5e-19 |
PFAM |
|
Pfam:Tubulin-binding
|
805 |
835 |
2.3e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
836 |
867 |
1.6e-11 |
PFAM |
|
low complexity region
|
902 |
917 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165596
AA Change: L595P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129174
Gene: ENSMUSG00000032480
AA Change: L595P
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
70 |
117 |
6.77e-5 |
PROSPERO |
|
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
262 |
308 |
6.77e-5 |
PROSPERO |
|
low complexity region
|
315 |
336 |
N/A |
INTRINSIC |
|
DEXDc
|
455 |
644 |
9.66e-29 |
SMART |
|
low complexity region
|
673 |
683 |
N/A |
INTRINSIC |
|
HELICc
|
705 |
810 |
1.63e-17 |
SMART |
|
HA2
|
873 |
963 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
975 |
1129 |
1.8e-7 |
PFAM |
|
low complexity region
|
1194 |
1202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165876
|
| SMART Domains |
Protein: ENSMUSP00000132662
Gene: ENSMUSG00000032479
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
266 |
379 |
4.95e-7 |
PROSPERO |
|
low complexity region
|
401 |
420 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
439 |
550 |
4.95e-7 |
PROSPERO |
|
low complexity region
|
659 |
674 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
775 |
N/A |
INTRINSIC |
|
low complexity region
|
879 |
889 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
896 |
926 |
8.5e-16 |
PFAM |
|
Pfam:Tubulin-binding
|
965 |
995 |
6.4e-19 |
PFAM |
|
Pfam:Tubulin-binding
|
996 |
1026 |
3.3e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
1027 |
1058 |
2.3e-11 |
PFAM |
|
low complexity region
|
1093 |
1108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196171
AA Change: L564P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143616
Gene: ENSMUSG00000032480
AA Change: L564P
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
39 |
86 |
5.84e-5 |
PROSPERO |
|
low complexity region
|
180 |
191 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
231 |
277 |
5.84e-5 |
PROSPERO |
|
low complexity region
|
284 |
305 |
N/A |
INTRINSIC |
|
DEXDc
|
424 |
613 |
9.66e-29 |
SMART |
|
low complexity region
|
642 |
652 |
N/A |
INTRINSIC |
|
HELICc
|
674 |
779 |
1.63e-17 |
SMART |
|
HA2
|
842 |
932 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
947 |
1097 |
2.8e-9 |
PFAM |
|
low complexity region
|
1163 |
1171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197928
AA Change: L572P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142549
Gene: ENSMUSG00000032480
AA Change: L572P
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
47 |
94 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
239 |
285 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
292 |
313 |
N/A |
INTRINSIC |
|
DEXDc
|
432 |
621 |
9.66e-29 |
SMART |
|
low complexity region
|
650 |
660 |
N/A |
INTRINSIC |
|
HELICc
|
682 |
787 |
1.63e-17 |
SMART |
|
HA2
|
850 |
940 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
952 |
1106 |
2.1e-7 |
PFAM |
|
low complexity region
|
1171 |
1179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198425
AA Change: L595P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142659
Gene: ENSMUSG00000032480
AA Change: L595P
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
70 |
117 |
6.77e-5 |
PROSPERO |
|
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
262 |
308 |
6.77e-5 |
PROSPERO |
|
low complexity region
|
315 |
336 |
N/A |
INTRINSIC |
|
DEXDc
|
455 |
644 |
9.66e-29 |
SMART |
|
low complexity region
|
673 |
683 |
N/A |
INTRINSIC |
|
HELICc
|
705 |
810 |
1.63e-17 |
SMART |
|
HA2
|
873 |
963 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
975 |
1129 |
1.8e-7 |
PFAM |
|
low complexity region
|
1194 |
1202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199332
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199498
|
| SMART Domains |
Protein: ENSMUSP00000142439
Gene: ENSMUSG00000032479
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
726 |
736 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
743 |
773 |
5.8e-16 |
PFAM |
|
Pfam:Tubulin-binding
|
774 |
804 |
2.2e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
805 |
836 |
1.6e-11 |
PFAM |
|
low complexity region
|
871 |
886 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199529
AA Change: L572P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142489
Gene: ENSMUSG00000032480
AA Change: L572P
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
47 |
94 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
239 |
285 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
292 |
313 |
N/A |
INTRINSIC |
|
DEXDc
|
432 |
621 |
9.66e-29 |
SMART |
|
low complexity region
|
650 |
660 |
N/A |
INTRINSIC |
|
HELICc
|
682 |
787 |
1.63e-17 |
SMART |
|
HA2
|
850 |
940 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
952 |
1106 |
2.1e-7 |
PFAM |
|
low complexity region
|
1171 |
1179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199693
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200066
AA Change: L572P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143371
Gene: ENSMUSG00000032480
AA Change: L572P
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
47 |
94 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
239 |
285 |
6.21e-5 |
PROSPERO |
|
low complexity region
|
292 |
313 |
N/A |
INTRINSIC |
|
DEXDc
|
432 |
621 |
9.66e-29 |
SMART |
|
low complexity region
|
650 |
660 |
N/A |
INTRINSIC |
|
HELICc
|
682 |
787 |
1.63e-17 |
SMART |
|
HA2
|
850 |
940 |
5.16e-22 |
SMART |
|
Pfam:OB_NTP_bind
|
952 |
1106 |
2.1e-7 |
PFAM |
|
low complexity region
|
1171 |
1179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200593
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality associated with embryonic growth retardation, failure of initiation of embryo turning, and absence of organized somites and neural tube formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
A |
15: 81,947,843 (GRCm39) |
I580N |
probably benign |
Het |
| Aars1 |
T |
A |
8: 111,768,296 (GRCm39) |
Y222* |
probably null |
Het |
| Abi2 |
G |
T |
1: 60,449,008 (GRCm39) |
R16L |
possibly damaging |
Het |
| Adam9 |
C |
A |
8: 25,445,953 (GRCm39) |
V814F |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,691,608 (GRCm39) |
T1660A |
probably benign |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,253,207 (GRCm39) |
Y211* |
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,494,254 (GRCm39) |
Y230H |
possibly damaging |
Het |
| Btg4 |
C |
A |
9: 51,030,436 (GRCm39) |
Q179K |
probably damaging |
Het |
| Ccdc150 |
G |
T |
1: 54,407,544 (GRCm39) |
E1107* |
probably null |
Het |
| Ccdc88c |
T |
C |
12: 100,911,749 (GRCm39) |
D695G |
possibly damaging |
Het |
| Cd200r4 |
A |
G |
16: 44,658,338 (GRCm39) |
T241A |
|
Het |
| Chd9 |
T |
A |
8: 91,659,294 (GRCm39) |
S85T |
unknown |
Het |
| Cltc |
G |
A |
11: 86,593,237 (GRCm39) |
S1542F |
probably benign |
Het |
| Col6a4 |
C |
A |
9: 105,945,271 (GRCm39) |
A948S |
probably benign |
Het |
| Crygb |
T |
C |
1: 65,119,686 (GRCm39) |
D98G |
probably benign |
Het |
| Ctbp2 |
A |
T |
7: 132,616,198 (GRCm39) |
S246T |
probably benign |
Het |
| Dcp1b |
T |
A |
6: 119,196,993 (GRCm39) |
Y563* |
probably null |
Het |
| Ddx59 |
T |
A |
1: 136,344,681 (GRCm39) |
Y117* |
probably null |
Het |
| Dnah5 |
C |
T |
15: 28,272,286 (GRCm39) |
T1030M |
probably benign |
Het |
| Dpp10 |
A |
G |
1: 123,269,409 (GRCm39) |
S667P |
probably damaging |
Het |
| Epha7 |
G |
A |
4: 28,870,659 (GRCm39) |
C312Y |
probably damaging |
Het |
| Gbf1 |
A |
T |
19: 46,248,122 (GRCm39) |
T300S |
probably benign |
Het |
| Glp2r |
T |
C |
11: 67,655,622 (GRCm39) |
K40R |
probably benign |
Het |
| H2-Q5 |
G |
A |
17: 35,613,413 (GRCm39) |
V49M |
|
Het |
| Havcr1 |
T |
A |
11: 46,669,391 (GRCm39) |
V290E |
probably benign |
Het |
| Hc |
T |
A |
2: 34,873,767 (GRCm39) |
T1656S |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 107,021,938 (GRCm39) |
I999N |
probably benign |
Het |
| Hoxc4 |
A |
T |
15: 102,944,384 (GRCm39) |
E254V |
probably benign |
Het |
| Il5ra |
T |
C |
6: 106,712,688 (GRCm39) |
N275S |
probably damaging |
Het |
| Itfg2 |
C |
A |
6: 128,389,950 (GRCm39) |
A272S |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,212,505 (GRCm39) |
I1537N |
probably damaging |
Het |
| Jakmip3 |
A |
G |
7: 138,621,988 (GRCm39) |
E296G |
probably damaging |
Het |
| Jchain |
T |
G |
5: 88,673,976 (GRCm39) |
E56A |
probably damaging |
Het |
| Kcnh5 |
A |
T |
12: 74,944,307 (GRCm39) |
S981T |
probably benign |
Het |
| Kcnk2 |
CAAA |
CAA |
1: 188,988,891 (GRCm39) |
|
probably null |
Het |
| Klk1b4 |
A |
T |
7: 43,860,477 (GRCm39) |
D165V |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,719,792 (GRCm39) |
Y626F |
unknown |
Het |
| Lrrk2 |
T |
A |
15: 91,636,388 (GRCm39) |
L1454* |
probably null |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,709,827 (GRCm39) |
I607N |
probably damaging |
Het |
| Nefh |
C |
T |
11: 4,891,222 (GRCm39) |
E466K |
possibly damaging |
Het |
| Nudc |
T |
C |
4: 133,262,989 (GRCm39) |
E118G |
probably benign |
Het |
| Or2aj6 |
A |
T |
16: 19,442,961 (GRCm39) |
D296E |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,760 (GRCm39) |
L279S |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Per1 |
T |
A |
11: 68,998,855 (GRCm39) |
M1142K |
probably damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Plec |
C |
A |
15: 76,115,377 (GRCm39) |
A66S |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,728,669 (GRCm39) |
Y1199C |
possibly damaging |
Het |
| Pou2f2 |
C |
A |
7: 24,796,569 (GRCm39) |
A302S |
probably benign |
Het |
| Prkag3 |
A |
T |
1: 74,787,082 (GRCm39) |
W59R |
|
Het |
| Rin3 |
T |
A |
12: 102,335,589 (GRCm39) |
L420* |
probably null |
Het |
| Sash1 |
T |
A |
10: 8,620,299 (GRCm39) |
M454L |
probably benign |
Het |
| Serpina3i |
A |
G |
12: 104,234,730 (GRCm39) |
T354A |
probably benign |
Het |
| Skap1 |
T |
C |
11: 96,472,030 (GRCm39) |
F101S |
probably benign |
Het |
| Slc16a8 |
T |
A |
15: 79,136,182 (GRCm39) |
Q340L |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,578,004 (GRCm39) |
Q600L |
possibly damaging |
Het |
| Slc39a14 |
T |
G |
14: 70,556,235 (GRCm39) |
D47A |
probably benign |
Het |
| Slfn9 |
T |
A |
11: 82,878,211 (GRCm39) |
Y306F |
possibly damaging |
Het |
| Sos1 |
T |
C |
17: 80,742,367 (GRCm39) |
M387V |
probably benign |
Het |
| Srl |
A |
T |
16: 4,301,031 (GRCm39) |
L680Q |
probably damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,946,822 (GRCm39) |
R261H |
probably benign |
Het |
| Tm7sf3 |
C |
A |
6: 146,511,335 (GRCm39) |
G385W |
probably damaging |
Het |
| Tmem191 |
C |
T |
16: 17,094,526 (GRCm39) |
R62* |
probably null |
Het |
| Triobp |
T |
C |
15: 78,844,266 (GRCm39) |
S161P |
probably damaging |
Het |
| Usp13 |
A |
T |
3: 32,969,135 (GRCm39) |
|
probably null |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r230 |
C |
A |
17: 21,067,163 (GRCm39) |
C117* |
probably null |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,190 (GRCm39) |
Q837R |
probably benign |
Het |
| Zfp618 |
T |
C |
4: 63,051,282 (GRCm39) |
S688P |
probably benign |
Het |
|
| Other mutations in Dhx30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01343:Dhx30
|
APN |
9 |
109,915,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01800:Dhx30
|
APN |
9 |
109,914,581 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02403:Dhx30
|
APN |
9 |
109,920,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Dhx30
|
APN |
9 |
109,926,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03177:Dhx30
|
APN |
9 |
109,917,078 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0092:Dhx30
|
UTSW |
9 |
109,914,078 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0601:Dhx30
|
UTSW |
9 |
109,915,782 (GRCm39) |
splice site |
probably null |
|
|
R1667:Dhx30
|
UTSW |
9 |
109,914,514 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1667:Dhx30
|
UTSW |
9 |
109,914,513 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1670:Dhx30
|
UTSW |
9 |
109,914,341 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1728:Dhx30
|
UTSW |
9 |
109,927,819 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1729:Dhx30
|
UTSW |
9 |
109,927,819 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1795:Dhx30
|
UTSW |
9 |
109,937,051 (GRCm39) |
splice site |
probably null |
|
|
R1854:Dhx30
|
UTSW |
9 |
109,917,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Dhx30
|
UTSW |
9 |
109,915,186 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2219:Dhx30
|
UTSW |
9 |
109,916,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2220:Dhx30
|
UTSW |
9 |
109,916,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Dhx30
|
UTSW |
9 |
109,916,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2374:Dhx30
|
UTSW |
9 |
109,920,632 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2568:Dhx30
|
UTSW |
9 |
109,926,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2881:Dhx30
|
UTSW |
9 |
109,927,913 (GRCm39) |
nonsense |
probably null |
|
|
R4022:Dhx30
|
UTSW |
9 |
109,913,465 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4052:Dhx30
|
UTSW |
9 |
109,929,889 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4695:Dhx30
|
UTSW |
9 |
109,914,356 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4728:Dhx30
|
UTSW |
9 |
109,916,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4892:Dhx30
|
UTSW |
9 |
109,914,924 (GRCm39) |
splice site |
probably null |
|
|
R4911:Dhx30
|
UTSW |
9 |
109,929,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4937:Dhx30
|
UTSW |
9 |
109,915,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5135:Dhx30
|
UTSW |
9 |
109,927,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5359:Dhx30
|
UTSW |
9 |
109,922,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5462:Dhx30
|
UTSW |
9 |
109,930,042 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5504:Dhx30
|
UTSW |
9 |
109,914,278 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5797:Dhx30
|
UTSW |
9 |
109,927,888 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5860:Dhx30
|
UTSW |
9 |
109,913,645 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6041:Dhx30
|
UTSW |
9 |
109,913,666 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6132:Dhx30
|
UTSW |
9 |
109,914,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6158:Dhx30
|
UTSW |
9 |
109,916,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6475:Dhx30
|
UTSW |
9 |
109,914,120 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6818:Dhx30
|
UTSW |
9 |
109,917,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6984:Dhx30
|
UTSW |
9 |
109,920,485 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7412:Dhx30
|
UTSW |
9 |
109,921,966 (GRCm39) |
missense |
probably benign |
|
|
R7477:Dhx30
|
UTSW |
9 |
109,916,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7808:Dhx30
|
UTSW |
9 |
109,915,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7982:Dhx30
|
UTSW |
9 |
109,914,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8343:Dhx30
|
UTSW |
9 |
109,914,569 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8376:Dhx30
|
UTSW |
9 |
109,917,707 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8434:Dhx30
|
UTSW |
9 |
109,929,974 (GRCm39) |
missense |
probably benign |
|
|
R8831:Dhx30
|
UTSW |
9 |
109,917,319 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8842:Dhx30
|
UTSW |
9 |
109,914,296 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8971:Dhx30
|
UTSW |
9 |
109,913,513 (GRCm39) |
nonsense |
probably null |
|
|
R9001:Dhx30
|
UTSW |
9 |
109,916,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9117:Dhx30
|
UTSW |
9 |
109,926,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9177:Dhx30
|
UTSW |
9 |
109,915,750 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9189:Dhx30
|
UTSW |
9 |
109,914,494 (GRCm39) |
nonsense |
probably null |
|
|
R9281:Dhx30
|
UTSW |
9 |
109,929,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9289:Dhx30
|
UTSW |
9 |
109,922,189 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9289:Dhx30
|
UTSW |
9 |
109,920,603 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9424:Dhx30
|
UTSW |
9 |
109,916,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9599:Dhx30
|
UTSW |
9 |
109,914,518 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9617:Dhx30
|
UTSW |
9 |
109,926,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9647:Dhx30
|
UTSW |
9 |
109,922,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Dhx30
|
UTSW |
9 |
109,914,103 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9715:Dhx30
|
UTSW |
9 |
109,916,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Dhx30
|
UTSW |
9 |
109,913,502 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1176:Dhx30
|
UTSW |
9 |
109,916,033 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTACCCAGCTTGGCCAAG -3'
(R):5'- ATCTCAGCTGTGTCTGTGGC -3'
Sequencing Primer
(F):5'- CAAGATGTCCTCCAGGTAGTG -3'
(R):5'- ATGAACTGGGCCCCTCCTTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation