Incidental Mutation 'R6080:Zc3h18'
| ID |
482889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h18
|
| Ensembl Gene |
ENSMUSG00000017478 |
| Gene Name |
zinc finger CCCH-type containing 18 |
| Synonyms |
5830416A07Rik, 1190001B23Rik |
| MMRRC Submission |
044239-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R6080 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
123103348-123144099 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 123143283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017622]
[ENSMUST00000093073]
[ENSMUST00000127664]
[ENSMUST00000176629]
|
| AlphaFold |
Q0P678 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000017622
AA Change: D930G
|
| SMART Domains |
Protein: ENSMUSP00000017622
Gene: ENSMUSG00000017478
AA Change: D930G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
105 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
205 |
N/A |
INTRINSIC |
|
Blast:ZnF_C3H1
|
215 |
264 |
3e-9 |
BLAST |
|
low complexity region
|
279 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
418 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
677 |
N/A |
INTRINSIC |
|
low complexity region
|
689 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
705 |
748 |
N/A |
INTRINSIC |
|
low complexity region
|
756 |
770 |
N/A |
INTRINSIC |
|
low complexity region
|
794 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
871 |
887 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
910 |
N/A |
INTRINSIC |
|
coiled coil region
|
940 |
968 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000093073
AA Change: D906G
|
| SMART Domains |
Protein: ENSMUSP00000090761
Gene: ENSMUSG00000017478
AA Change: D906G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
105 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
205 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
215 |
240 |
2.57e-3 |
SMART |
|
low complexity region
|
255 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
394 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
616 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
679 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
746 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
863 |
N/A |
INTRINSIC |
|
low complexity region
|
874 |
886 |
N/A |
INTRINSIC |
|
coiled coil region
|
916 |
944 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176629
AA Change: D908G
|
| SMART Domains |
Protein: ENSMUSP00000134743
Gene: ENSMUSG00000017478
AA Change: D908G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
105 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
205 |
N/A |
INTRINSIC |
|
Blast:ZnF_C3H1
|
215 |
264 |
6e-9 |
BLAST |
|
low complexity region
|
279 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
418 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
677 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
748 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
806 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
876 |
888 |
N/A |
INTRINSIC |
|
coiled coil region
|
918 |
946 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177049
|
| SMART Domains |
Protein: ENSMUSP00000135014
Gene: ENSMUSG00000017478
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
221 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177123
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,906,462 (GRCm39) |
M44I |
possibly damaging |
Het |
| Anks1b |
C |
A |
10: 90,802,211 (GRCm39) |
S1209* |
probably null |
Het |
| Atp9b |
A |
G |
18: 80,782,023 (GRCm39) |
V1039A |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,099,271 (GRCm39) |
S278P |
probably benign |
Het |
| Cep44 |
T |
C |
8: 56,992,876 (GRCm39) |
K246R |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,881,197 (GRCm39) |
D330E |
possibly damaging |
Het |
| Dnah10 |
A |
T |
5: 124,882,961 (GRCm39) |
M2940L |
possibly damaging |
Het |
| Gm14326 |
T |
A |
2: 177,578,339 (GRCm39) |
T68S |
probably benign |
Het |
| Gm4922 |
A |
C |
10: 18,660,500 (GRCm39) |
I74S |
probably damaging |
Het |
| Ints14 |
G |
A |
9: 64,874,044 (GRCm39) |
V99I |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,332,345 (GRCm39) |
S1681P |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,678,316 (GRCm39) |
E513G |
probably benign |
Het |
| Myh14 |
T |
A |
7: 44,305,035 (GRCm39) |
N252I |
probably damaging |
Het |
| Naga |
A |
G |
15: 82,219,048 (GRCm39) |
V233A |
probably benign |
Het |
| Npc1 |
C |
T |
18: 12,352,408 (GRCm39) |
C97Y |
probably damaging |
Het |
| Or4f15 |
T |
G |
2: 111,814,050 (GRCm39) |
Y123S |
probably damaging |
Het |
| Or52n4 |
T |
C |
7: 104,294,517 (GRCm39) |
I19V |
probably benign |
Het |
| Or56a3b |
T |
C |
7: 104,771,116 (GRCm39) |
F151L |
probably benign |
Het |
| Or9i2 |
C |
A |
19: 13,816,464 (GRCm39) |
L24F |
possibly damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Plag1 |
T |
C |
4: 3,903,815 (GRCm39) |
T459A |
probably benign |
Het |
| Rnase9 |
T |
C |
14: 51,276,727 (GRCm39) |
T84A |
probably benign |
Het |
| Rps6kb2 |
T |
A |
19: 4,208,671 (GRCm39) |
I282F |
probably benign |
Het |
| Smg5 |
A |
G |
3: 88,258,816 (GRCm39) |
T596A |
probably benign |
Het |
| Ugcg |
T |
C |
4: 59,218,524 (GRCm39) |
V256A |
possibly damaging |
Het |
| Vgll4 |
T |
C |
6: 114,898,299 (GRCm39) |
I21V |
probably benign |
Het |
| Vipas39 |
T |
A |
12: 87,288,727 (GRCm39) |
H426L |
probably damaging |
Het |
| Vmn1r224 |
A |
G |
17: 20,639,818 (GRCm39) |
T132A |
possibly damaging |
Het |
| Zfp606 |
T |
A |
7: 12,228,043 (GRCm39) |
N663K |
probably damaging |
Het |
| Zfp819 |
A |
G |
7: 43,266,120 (GRCm39) |
H201R |
probably benign |
Het |
| Zfp946 |
T |
A |
17: 22,674,090 (GRCm39) |
H281Q |
probably benign |
Het |
|
| Other mutations in Zc3h18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Zc3h18
|
APN |
8 |
123,113,591 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01160:Zc3h18
|
APN |
8 |
123,134,989 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01472:Zc3h18
|
APN |
8 |
123,143,396 (GRCm39) |
unclassified |
probably benign |
|
|
R1525:Zc3h18
|
UTSW |
8 |
123,140,677 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1996:Zc3h18
|
UTSW |
8 |
123,134,126 (GRCm39) |
unclassified |
probably benign |
|
|
R2351:Zc3h18
|
UTSW |
8 |
123,129,926 (GRCm39) |
nonsense |
probably null |
|
|
R2398:Zc3h18
|
UTSW |
8 |
123,140,605 (GRCm39) |
intron |
probably benign |
|
|
R2516:Zc3h18
|
UTSW |
8 |
123,129,904 (GRCm39) |
intron |
probably benign |
|
|
R4435:Zc3h18
|
UTSW |
8 |
123,140,691 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4734:Zc3h18
|
UTSW |
8 |
123,110,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Zc3h18
|
UTSW |
8 |
123,110,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Zc3h18
|
UTSW |
8 |
123,128,445 (GRCm39) |
intron |
probably benign |
|
|
R4952:Zc3h18
|
UTSW |
8 |
123,137,639 (GRCm39) |
unclassified |
probably benign |
|
|
R5001:Zc3h18
|
UTSW |
8 |
123,110,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5098:Zc3h18
|
UTSW |
8 |
123,113,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5172:Zc3h18
|
UTSW |
8 |
123,134,159 (GRCm39) |
unclassified |
probably benign |
|
|
R5213:Zc3h18
|
UTSW |
8 |
123,110,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Zc3h18
|
UTSW |
8 |
123,113,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5558:Zc3h18
|
UTSW |
8 |
123,113,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5611:Zc3h18
|
UTSW |
8 |
123,135,109 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6315:Zc3h18
|
UTSW |
8 |
123,110,604 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6349:Zc3h18
|
UTSW |
8 |
123,135,025 (GRCm39) |
unclassified |
probably benign |
|
|
R7371:Zc3h18
|
UTSW |
8 |
123,139,760 (GRCm39) |
missense |
unknown |
|
|
R7513:Zc3h18
|
UTSW |
8 |
123,134,993 (GRCm39) |
missense |
unknown |
|
|
R7674:Zc3h18
|
UTSW |
8 |
123,110,295 (GRCm39) |
frame shift |
probably null |
|
|
R7684:Zc3h18
|
UTSW |
8 |
123,134,165 (GRCm39) |
missense |
unknown |
|
|
R7685:Zc3h18
|
UTSW |
8 |
123,140,615 (GRCm39) |
missense |
unknown |
|
|
R7686:Zc3h18
|
UTSW |
8 |
123,140,615 (GRCm39) |
missense |
unknown |
|
|
R7849:Zc3h18
|
UTSW |
8 |
123,110,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8759:Zc3h18
|
UTSW |
8 |
123,138,124 (GRCm39) |
missense |
unknown |
|
|
R8797:Zc3h18
|
UTSW |
8 |
123,134,989 (GRCm39) |
unclassified |
probably benign |
|
|
R8986:Zc3h18
|
UTSW |
8 |
123,134,193 (GRCm39) |
missense |
unknown |
|
|
R9016:Zc3h18
|
UTSW |
8 |
123,129,963 (GRCm39) |
missense |
unknown |
|
|
V1024:Zc3h18
|
UTSW |
8 |
123,110,596 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGCCTATATAGTGGGGCAAATAG -3'
(R):5'- TCCAAAATGGCTGCGCTTAC -3'
Sequencing Primer
(F):5'- TGCGGGCTAGCCTACAC -3'
(R):5'- AAATGGCTGCGCTTACCCTAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation