Incidental Mutation 'R4435:Zc3h18'
| ID |
329487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h18
|
| Ensembl Gene |
ENSMUSG00000017478 |
| Gene Name |
zinc finger CCCH-type containing 18 |
| Synonyms |
5830416A07Rik, 1190001B23Rik |
| MMRRC Submission |
041149-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R4435 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
123103348-123144099 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 123140691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017622]
[ENSMUST00000093073]
[ENSMUST00000127664]
[ENSMUST00000176629]
|
| AlphaFold |
Q0P678 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000017622
|
| SMART Domains |
Protein: ENSMUSP00000017622
Gene: ENSMUSG00000017478
| 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 |
probably null
Transcript: ENSMUST00000093073
|
| SMART Domains |
Protein: ENSMUSP00000090761
Gene: ENSMUSG00000017478
| 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 |
noncoding transcript
Transcript: ENSMUST00000175798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175819
|
| SMART Domains |
Protein: ENSMUSP00000135055
Gene: ENSMUSG00000017478
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176629
|
| SMART Domains |
Protein: ENSMUSP00000134743
Gene: ENSMUSG00000017478
| 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 null
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 |
probably null
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,822,900 (GRCm39) |
S523L |
probably damaging |
Het |
| Arap1 |
C |
A |
7: 101,039,461 (GRCm39) |
R574S |
possibly damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,439,920 (GRCm39) |
I576V |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,597,981 (GRCm39) |
V1283D |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,387,232 (GRCm39) |
|
probably null |
Het |
| Asrgl1 |
C |
T |
19: 9,096,563 (GRCm39) |
V125I |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,320,942 (GRCm39) |
R239G |
probably benign |
Het |
| Cdyl |
T |
C |
13: 36,042,233 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
T |
C |
7: 55,549,789 (GRCm39) |
I650T |
probably damaging |
Het |
| Dennd4c |
C |
A |
4: 86,716,312 (GRCm39) |
Q506K |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,320,588 (GRCm39) |
D1313G |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,263,248 (GRCm39) |
D567G |
probably damaging |
Het |
| Gm5134 |
T |
G |
10: 75,831,658 (GRCm39) |
S366A |
probably damaging |
Het |
| Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
| Gpn3 |
A |
G |
5: 122,520,115 (GRCm39) |
D223G |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,111,623 (GRCm39) |
Y713H |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,476,234 (GRCm39) |
L14P |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,519,875 (GRCm39) |
N2078K |
possibly damaging |
Het |
| Maf |
T |
A |
8: 116,433,592 (GRCm39) |
E4V |
unknown |
Het |
| Mbtd1 |
T |
A |
11: 93,823,048 (GRCm39) |
D489E |
probably benign |
Het |
| Myrip |
C |
T |
9: 120,164,680 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,345,896 (GRCm39) |
D816G |
possibly damaging |
Het |
| Nwd1 |
T |
C |
8: 73,414,764 (GRCm39) |
V934A |
possibly damaging |
Het |
| Or2a12 |
T |
A |
6: 42,905,023 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,229 (GRCm39) |
M81V |
probably benign |
Het |
| Psd |
A |
T |
19: 46,302,933 (GRCm39) |
I158N |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,520,916 (GRCm39) |
V752A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Senp2 |
T |
A |
16: 21,832,991 (GRCm39) |
V93E |
possibly damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Slc38a4 |
T |
C |
15: 96,906,899 (GRCm39) |
S280G |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,661,473 (GRCm39) |
E666G |
possibly damaging |
Het |
| Strip2 |
T |
C |
6: 29,925,049 (GRCm39) |
V129A |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,818,687 (GRCm39) |
P1450L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,747,219 (GRCm39) |
E4610G |
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,223,636 (GRCm39) |
E212G |
probably damaging |
Het |
| Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
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 |
|
|
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 |
|
|
R6080:Zc3h18
|
UTSW |
8 |
123,143,283 (GRCm39) |
unclassified |
probably benign |
|
|
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'- ATGGGAGCAAAGAACCACTC -3'
(R):5'- ATCTTGTGCGCTACCACTGAG -3'
Sequencing Primer
(F):5'- GGGAGCAAAGAACCACTCTCCAG -3'
(R):5'- TAATCCCAGCACTTTGGAGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation