Incidental Mutation 'R8803:Zfc3h1'
| ID |
671636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfc3h1
|
| Ensembl Gene |
ENSMUSG00000034163 |
| Gene Name |
zinc finger, C3H1-type containing |
| Synonyms |
Ccdc131, Psrc2 |
| MMRRC Submission |
068640-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R8803 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
115220864-115268677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115247800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1001
(V1001A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036044]
|
| AlphaFold |
B2RT41 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036044
AA Change: V1001A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044069
Gene: ENSMUSG00000034163
AA Change: V1001A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
214 |
N/A |
INTRINSIC |
|
coiled coil region
|
361 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
432 |
N/A |
INTRINSIC |
|
coiled coil region
|
436 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
623 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
729 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
763 |
N/A |
INTRINSIC |
|
coiled coil region
|
826 |
889 |
N/A |
INTRINSIC |
|
coiled coil region
|
968 |
1000 |
N/A |
INTRINSIC |
|
low complexity region
|
1001 |
1015 |
N/A |
INTRINSIC |
|
Pfam:zf-C3H1
|
1187 |
1208 |
1.3e-11 |
PFAM |
|
HAT
|
1384 |
1416 |
1.11e0 |
SMART |
|
HAT
|
1418 |
1449 |
4.35e2 |
SMART |
|
Blast:HAT
|
1495 |
1538 |
2e-9 |
BLAST |
|
HAT
|
1653 |
1685 |
3.31e1 |
SMART |
|
HAT
|
1762 |
1797 |
7.03e1 |
SMART |
|
HAT
|
1922 |
1954 |
1.29e-1 |
SMART |
|
low complexity region
|
1975 |
1992 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
A |
8: 60,998,290 (GRCm39) |
S431T |
probably benign |
Het |
| Acot7 |
T |
G |
4: 152,302,272 (GRCm39) |
V128G |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,914,691 (GRCm39) |
D508G |
probably benign |
Het |
| Adam18 |
T |
C |
8: 25,137,878 (GRCm39) |
I321V |
probably benign |
Het |
| Ak1 |
T |
C |
2: 32,523,490 (GRCm39) |
V186A |
probably benign |
Het |
| Aldh3a2 |
A |
G |
11: 61,139,756 (GRCm39) |
F459L |
probably benign |
Het |
| Atp11a |
T |
C |
8: 12,875,721 (GRCm39) |
L256P |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,903,999 (GRCm39) |
E162G |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,959,033 (GRCm39) |
Q3850R |
probably damaging |
Het |
| Btf3l4 |
T |
G |
4: 108,689,084 (GRCm39) |
|
probably benign |
Het |
| Btla |
A |
G |
16: 45,059,430 (GRCm39) |
T45A |
probably benign |
Het |
| Cad |
T |
G |
5: 31,226,908 (GRCm39) |
S1222A |
probably damaging |
Het |
| Cbarp |
A |
G |
10: 79,972,976 (GRCm39) |
V39A |
possibly damaging |
Het |
| Cct2 |
A |
C |
10: 116,894,090 (GRCm39) |
D221E |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,177,991 (GRCm39) |
D3621G |
probably damaging |
Het |
| Col20a1 |
G |
T |
2: 180,643,131 (GRCm39) |
R867L |
possibly damaging |
Het |
| Cops3 |
A |
G |
11: 59,718,802 (GRCm39) |
V164A |
probably benign |
Het |
| Crygf |
A |
G |
1: 65,967,148 (GRCm39) |
R91G |
probably damaging |
Het |
| Csmd2 |
T |
A |
4: 128,440,477 (GRCm39) |
S3181T |
|
Het |
| Cyb5r1 |
G |
T |
1: 134,333,696 (GRCm39) |
|
probably benign |
Het |
| Dennd6b |
T |
A |
15: 89,070,383 (GRCm39) |
I429F |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,475,816 (GRCm39) |
T864A |
probably benign |
Het |
| Eea1 |
A |
T |
10: 95,859,853 (GRCm39) |
D713V |
probably benign |
Het |
| Fam78b |
G |
A |
1: 166,829,160 (GRCm39) |
C9Y |
probably damaging |
Het |
| Gga2 |
A |
C |
7: 121,597,002 (GRCm39) |
D371E |
probably benign |
Het |
| Gtpbp6 |
A |
T |
5: 110,255,186 (GRCm39) |
V2E |
unknown |
Het |
| Hectd4 |
A |
T |
5: 121,461,994 (GRCm39) |
M954L |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,610,248 (GRCm39) |
C1474R |
probably damaging |
Het |
| Igkv1-99 |
G |
T |
6: 68,519,370 (GRCm39) |
G109V |
|
Het |
| Izumo3 |
T |
C |
4: 92,033,310 (GRCm39) |
|
probably null |
Het |
| Kremen1 |
T |
C |
11: 5,144,981 (GRCm39) |
D465G |
probably benign |
Het |
| Ksr1 |
T |
C |
11: 79,036,882 (GRCm39) |
E75G |
probably benign |
Het |
| Mmp17 |
G |
T |
5: 129,675,773 (GRCm39) |
E311* |
probably null |
Het |
| Mmrn1 |
T |
A |
6: 60,965,271 (GRCm39) |
F1101I |
probably damaging |
Het |
| Muc13 |
G |
A |
16: 33,633,287 (GRCm39) |
|
probably benign |
Het |
| Myl4 |
T |
A |
11: 104,475,403 (GRCm39) |
M147K |
probably damaging |
Het |
| Myo1a |
T |
A |
10: 127,546,856 (GRCm39) |
N334K |
probably benign |
Het |
| Myo3b |
T |
C |
2: 70,083,338 (GRCm39) |
S664P |
probably benign |
Het |
| Nptxr |
T |
C |
15: 79,678,655 (GRCm39) |
N211D |
probably damaging |
Het |
| Ntf5 |
A |
G |
7: 45,065,485 (GRCm39) |
T206A |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,945,229 (GRCm39) |
E4596D |
probably benign |
Het |
| Or4d10c |
T |
C |
19: 12,065,469 (GRCm39) |
E229G |
probably benign |
Het |
| Or4f14d |
T |
C |
2: 111,960,427 (GRCm39) |
H243R |
probably damaging |
Het |
| Or5ak20 |
T |
A |
2: 85,184,078 (GRCm39) |
Q64L |
probably damaging |
Het |
| Or5ak25 |
T |
A |
2: 85,268,981 (GRCm39) |
I174F |
probably damaging |
Het |
| Or5b3 |
A |
T |
19: 13,388,037 (GRCm39) |
I35F |
probably damaging |
Het |
| Or7e169 |
A |
T |
9: 19,757,462 (GRCm39) |
I151N |
possibly damaging |
Het |
| Paip2 |
A |
G |
18: 35,749,273 (GRCm39) |
N114D |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,039,925 (GRCm39) |
S2071P |
possibly damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,637,870 (GRCm39) |
T369A |
probably damaging |
Het |
| Ppp1r12b |
A |
C |
1: 134,818,492 (GRCm39) |
|
probably benign |
Het |
| Ppp1r35 |
T |
A |
5: 137,777,731 (GRCm39) |
D132E |
possibly damaging |
Het |
| Pramel7 |
A |
T |
2: 87,320,405 (GRCm39) |
V296E |
probably benign |
Het |
| Prh1 |
C |
T |
6: 132,548,948 (GRCm39) |
P152S |
unknown |
Het |
| Pygl |
T |
C |
12: 70,242,390 (GRCm39) |
T689A |
probably damaging |
Het |
| Rasgef1b |
T |
C |
5: 99,369,269 (GRCm39) |
S450G |
probably benign |
Het |
| Rtn4ip1 |
G |
T |
10: 43,783,842 (GRCm39) |
R121L |
probably damaging |
Het |
| Scarf2 |
A |
T |
16: 17,620,695 (GRCm39) |
H121L |
probably damaging |
Het |
| Selenbp1 |
C |
A |
3: 94,851,821 (GRCm39) |
A454E |
possibly damaging |
Het |
| Slc7a9 |
A |
G |
7: 35,163,143 (GRCm39) |
I449M |
possibly damaging |
Het |
| Snapc2 |
C |
T |
8: 4,305,558 (GRCm39) |
H278Y |
probably damaging |
Het |
| Stambp |
C |
T |
6: 83,524,212 (GRCm39) |
|
probably null |
Het |
| Syne1 |
T |
C |
10: 5,311,535 (GRCm39) |
Y550C |
probably damaging |
Het |
| Tas2r113 |
T |
C |
6: 132,870,104 (GRCm39) |
V44A |
possibly damaging |
Het |
| Trpv4 |
T |
C |
5: 114,772,816 (GRCm39) |
T305A |
probably benign |
Het |
| Twf1 |
T |
C |
15: 94,479,136 (GRCm39) |
Y241C |
probably damaging |
Het |
| Ugt2a3 |
T |
C |
5: 87,484,389 (GRCm39) |
K212E |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,676,998 (GRCm39) |
H4770L |
probably benign |
Het |
| Zfp335 |
C |
T |
2: 164,751,290 (GRCm39) |
R92Q |
probably benign |
Het |
|
| Other mutations in Zfc3h1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00698:Zfc3h1
|
APN |
10 |
115,255,737 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00793:Zfc3h1
|
APN |
10 |
115,252,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01349:Zfc3h1
|
APN |
10 |
115,259,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01431:Zfc3h1
|
APN |
10 |
115,259,128 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02273:Zfc3h1
|
APN |
10 |
115,263,004 (GRCm39) |
missense |
probably benign |
|
|
IGL02382:Zfc3h1
|
APN |
10 |
115,252,781 (GRCm39) |
nonsense |
probably null |
|
|
IGL02397:Zfc3h1
|
APN |
10 |
115,243,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02657:Zfc3h1
|
APN |
10 |
115,247,859 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02826:Zfc3h1
|
APN |
10 |
115,236,809 (GRCm39) |
missense |
probably benign |
0.42 |
|
Gnatcatcher
|
UTSW |
10 |
115,236,647 (GRCm39) |
missense |
probably benign |
0.39 |
|
hutton
|
UTSW |
10 |
115,251,153 (GRCm39) |
missense |
probably damaging |
0.96 |
|
passerine
|
UTSW |
10 |
115,249,916 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0178_Zfc3h1_655
|
UTSW |
10 |
115,242,630 (GRCm39) |
splice site |
probably benign |
|
|
vireo
|
UTSW |
10 |
115,255,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
warbler
|
UTSW |
10 |
115,242,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4260001:Zfc3h1
|
UTSW |
10 |
115,226,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4354001:Zfc3h1
|
UTSW |
10 |
115,262,944 (GRCm39) |
nonsense |
probably null |
|
|
R0062:Zfc3h1
|
UTSW |
10 |
115,252,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0062:Zfc3h1
|
UTSW |
10 |
115,252,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0067:Zfc3h1
|
UTSW |
10 |
115,259,379 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0067:Zfc3h1
|
UTSW |
10 |
115,259,379 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0104:Zfc3h1
|
UTSW |
10 |
115,251,192 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0178:Zfc3h1
|
UTSW |
10 |
115,242,630 (GRCm39) |
splice site |
probably benign |
|
|
R0355:Zfc3h1
|
UTSW |
10 |
115,245,018 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0619:Zfc3h1
|
UTSW |
10 |
115,256,715 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0731:Zfc3h1
|
UTSW |
10 |
115,246,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0828:Zfc3h1
|
UTSW |
10 |
115,237,612 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0866:Zfc3h1
|
UTSW |
10 |
115,263,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1196:Zfc3h1
|
UTSW |
10 |
115,247,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1455:Zfc3h1
|
UTSW |
10 |
115,248,013 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1515:Zfc3h1
|
UTSW |
10 |
115,252,647 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1617:Zfc3h1
|
UTSW |
10 |
115,226,827 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1640:Zfc3h1
|
UTSW |
10 |
115,242,806 (GRCm39) |
splice site |
probably null |
|
|
R1959:Zfc3h1
|
UTSW |
10 |
115,259,158 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2039:Zfc3h1
|
UTSW |
10 |
115,242,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Zfc3h1
|
UTSW |
10 |
115,246,428 (GRCm39) |
splice site |
probably benign |
|
|
R3691:Zfc3h1
|
UTSW |
10 |
115,256,595 (GRCm39) |
missense |
probably benign |
|
|
R3909:Zfc3h1
|
UTSW |
10 |
115,255,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4235:Zfc3h1
|
UTSW |
10 |
115,254,704 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4684:Zfc3h1
|
UTSW |
10 |
115,259,290 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4816:Zfc3h1
|
UTSW |
10 |
115,251,599 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4881:Zfc3h1
|
UTSW |
10 |
115,236,647 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4883:Zfc3h1
|
UTSW |
10 |
115,246,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Zfc3h1
|
UTSW |
10 |
115,240,116 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5068:Zfc3h1
|
UTSW |
10 |
115,254,688 (GRCm39) |
nonsense |
probably null |
|
|
R5069:Zfc3h1
|
UTSW |
10 |
115,254,688 (GRCm39) |
nonsense |
probably null |
|
|
R5070:Zfc3h1
|
UTSW |
10 |
115,254,688 (GRCm39) |
nonsense |
probably null |
|
|
R5155:Zfc3h1
|
UTSW |
10 |
115,248,026 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5190:Zfc3h1
|
UTSW |
10 |
115,254,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5499:Zfc3h1
|
UTSW |
10 |
115,246,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5932:Zfc3h1
|
UTSW |
10 |
115,236,815 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5935:Zfc3h1
|
UTSW |
10 |
115,267,262 (GRCm39) |
intron |
probably benign |
|
|
R6165:Zfc3h1
|
UTSW |
10 |
115,256,574 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6182:Zfc3h1
|
UTSW |
10 |
115,226,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6262:Zfc3h1
|
UTSW |
10 |
115,249,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6382:Zfc3h1
|
UTSW |
10 |
115,243,813 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6392:Zfc3h1
|
UTSW |
10 |
115,237,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6539:Zfc3h1
|
UTSW |
10 |
115,247,907 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6723:Zfc3h1
|
UTSW |
10 |
115,256,638 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7339:Zfc3h1
|
UTSW |
10 |
115,239,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7381:Zfc3h1
|
UTSW |
10 |
115,260,535 (GRCm39) |
missense |
probably benign |
|
|
R7404:Zfc3h1
|
UTSW |
10 |
115,251,153 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7667:Zfc3h1
|
UTSW |
10 |
115,246,606 (GRCm39) |
nonsense |
probably null |
|
|
R7748:Zfc3h1
|
UTSW |
10 |
115,236,720 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7910:Zfc3h1
|
UTSW |
10 |
115,256,588 (GRCm39) |
nonsense |
probably null |
|
|
R7914:Zfc3h1
|
UTSW |
10 |
115,239,062 (GRCm39) |
splice site |
probably null |
|
|
R8023:Zfc3h1
|
UTSW |
10 |
115,256,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8169:Zfc3h1
|
UTSW |
10 |
115,254,616 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8358:Zfc3h1
|
UTSW |
10 |
115,240,198 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8746:Zfc3h1
|
UTSW |
10 |
115,243,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8905:Zfc3h1
|
UTSW |
10 |
115,259,383 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9045:Zfc3h1
|
UTSW |
10 |
115,263,319 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9164:Zfc3h1
|
UTSW |
10 |
115,259,374 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9211:Zfc3h1
|
UTSW |
10 |
115,248,328 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9216:Zfc3h1
|
UTSW |
10 |
115,221,528 (GRCm39) |
missense |
unknown |
|
|
R9305:Zfc3h1
|
UTSW |
10 |
115,255,771 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9372:Zfc3h1
|
UTSW |
10 |
115,221,223 (GRCm39) |
missense |
unknown |
|
|
R9394:Zfc3h1
|
UTSW |
10 |
115,254,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9414:Zfc3h1
|
UTSW |
10 |
115,249,916 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9538:Zfc3h1
|
UTSW |
10 |
115,221,197 (GRCm39) |
missense |
unknown |
|
|
R9623:Zfc3h1
|
UTSW |
10 |
115,259,362 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9633:Zfc3h1
|
UTSW |
10 |
115,247,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9747:Zfc3h1
|
UTSW |
10 |
115,244,821 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Z1176:Zfc3h1
|
UTSW |
10 |
115,243,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGTGAGCAGTCATGTATGG -3'
(R):5'- TGGGTTTAGTGAAAGAATTGGACTC -3'
Sequencing Primer
(F):5'- GCAGTCATGTATGGTTGCATAAAATG -3'
(R):5'- GAATTGGACTCTAGGAAGGATCTTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation