Incidental Mutation 'R5069:Zfc3h1'
ID |
388562 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfc3h1
|
Ensembl Gene |
ENSMUSG00000034163 |
Gene Name |
zinc finger, C3H1-type containing |
Synonyms |
Ccdc131, Psrc2 |
MMRRC Submission |
042659-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.943)
|
Stock # |
R5069 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
115220864-115268677 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 115254688 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 1427
(C1427*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036044]
|
AlphaFold |
B2RT41 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036044
AA Change: C1427*
|
SMART Domains |
Protein: ENSMUSP00000044069 Gene: ENSMUSG00000034163 AA Change: C1427*
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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
G |
14: 32,383,749 (GRCm39) |
S739P |
possibly damaging |
Het |
AAdacl4fm3 |
T |
A |
4: 144,430,437 (GRCm39) |
D184V |
probably damaging |
Het |
Actn2 |
A |
G |
13: 12,303,408 (GRCm39) |
I464T |
possibly damaging |
Het |
Adcy7 |
T |
C |
8: 89,054,325 (GRCm39) |
L1060P |
probably damaging |
Het |
Aff3 |
A |
G |
1: 38,220,694 (GRCm39) |
|
probably null |
Het |
Ankar |
T |
C |
1: 72,719,369 (GRCm39) |
|
probably null |
Het |
Ankrd27 |
A |
T |
7: 35,327,860 (GRCm39) |
K793N |
probably damaging |
Het |
Arhgef28 |
T |
C |
13: 98,211,714 (GRCm39) |
T90A |
probably damaging |
Het |
Armc9 |
A |
T |
1: 86,184,959 (GRCm39) |
H670L |
probably benign |
Het |
Arvcf |
A |
G |
16: 18,217,736 (GRCm39) |
Y412C |
probably damaging |
Het |
Ass1 |
C |
T |
2: 31,400,185 (GRCm39) |
T301M |
probably damaging |
Het |
Baiap3 |
A |
T |
17: 25,468,082 (GRCm39) |
C283S |
probably damaging |
Het |
Birc6 |
C |
T |
17: 74,872,967 (GRCm39) |
R409C |
probably damaging |
Het |
Calcoco1 |
A |
G |
15: 102,619,527 (GRCm39) |
L354P |
probably damaging |
Het |
Cdh3 |
A |
G |
8: 107,263,458 (GRCm39) |
N126S |
probably benign |
Het |
Cfap54 |
A |
C |
10: 92,773,636 (GRCm39) |
F135L |
probably benign |
Het |
Dlg1 |
G |
T |
16: 31,503,113 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
C |
7: 119,632,013 (GRCm39) |
H1314R |
probably benign |
Het |
Dsp |
A |
C |
13: 38,381,099 (GRCm39) |
T2615P |
possibly damaging |
Het |
Elapor2 |
T |
A |
5: 9,490,897 (GRCm39) |
C636S |
probably damaging |
Het |
Enpp2 |
T |
C |
15: 54,727,450 (GRCm39) |
Y513C |
probably damaging |
Het |
Ercc6 |
T |
C |
14: 32,292,020 (GRCm39) |
V1128A |
probably benign |
Het |
Firrm |
T |
C |
1: 163,815,243 (GRCm39) |
T93A |
possibly damaging |
Het |
Gipc2 |
A |
G |
3: 151,799,885 (GRCm39) |
F282L |
probably benign |
Het |
Gm1043 |
T |
G |
5: 37,344,580 (GRCm39) |
L231R |
probably damaging |
Het |
Gpr153 |
T |
A |
4: 152,364,340 (GRCm39) |
M132K |
probably damaging |
Het |
Hbs1l |
T |
A |
10: 21,230,546 (GRCm39) |
S496T |
probably damaging |
Het |
Inpp5f |
A |
G |
7: 128,278,451 (GRCm39) |
|
probably null |
Het |
Kat6a |
G |
A |
8: 23,393,149 (GRCm39) |
C209Y |
probably damaging |
Het |
Kcna2 |
T |
A |
3: 107,011,953 (GRCm39) |
V178D |
probably damaging |
Het |
Krt75 |
A |
G |
15: 101,474,673 (GRCm39) |
|
probably null |
Het |
Letm2 |
G |
A |
8: 26,083,980 (GRCm39) |
Q84* |
probably null |
Het |
Mib1 |
A |
G |
18: 10,793,002 (GRCm39) |
E646G |
probably damaging |
Het |
Mmp14 |
T |
A |
14: 54,676,570 (GRCm39) |
Y372N |
probably damaging |
Het |
Muc6 |
A |
G |
7: 141,237,564 (GRCm39) |
C218R |
probably damaging |
Het |
Myof |
A |
T |
19: 37,893,773 (GRCm39) |
I1130N |
possibly damaging |
Het |
Neil3 |
A |
G |
8: 54,054,076 (GRCm39) |
S318P |
possibly damaging |
Het |
Nhlh1 |
A |
G |
1: 171,881,467 (GRCm39) |
V133A |
probably benign |
Het |
Nup153 |
A |
C |
13: 46,863,268 (GRCm39) |
S331A |
probably benign |
Het |
Nup98 |
T |
C |
7: 101,794,862 (GRCm39) |
T882A |
probably benign |
Het |
Or11g2 |
T |
A |
14: 50,856,197 (GRCm39) |
C173S |
probably damaging |
Het |
Or11h4 |
C |
A |
14: 50,974,531 (GRCm39) |
L29F |
probably benign |
Het |
Or52ab4 |
A |
T |
7: 102,987,229 (GRCm39) |
|
probably null |
Het |
Or9s23 |
T |
A |
1: 92,501,135 (GRCm39) |
S81T |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pald1 |
A |
T |
10: 61,177,025 (GRCm39) |
M675K |
possibly damaging |
Het |
Pex5 |
A |
G |
6: 124,390,555 (GRCm39) |
S97P |
probably benign |
Het |
Pitpnm1 |
C |
T |
19: 4,161,140 (GRCm39) |
A897V |
probably benign |
Het |
Plxnd1 |
A |
T |
6: 115,942,862 (GRCm39) |
V1274E |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,627,561 (GRCm39) |
|
probably null |
Het |
Ppfia1 |
G |
A |
7: 144,068,210 (GRCm39) |
Q446* |
probably null |
Het |
Psma2 |
G |
A |
13: 14,790,613 (GRCm39) |
V20I |
probably benign |
Het |
Pwwp4a |
T |
C |
X: 72,171,577 (GRCm39) |
I323T |
probably damaging |
Het |
Rhbdl2 |
T |
A |
4: 123,711,710 (GRCm39) |
L149* |
probably null |
Het |
Rnf17 |
T |
C |
14: 56,743,385 (GRCm39) |
V1317A |
probably damaging |
Het |
Rtel1 |
G |
A |
2: 180,997,285 (GRCm39) |
V1042M |
probably benign |
Het |
Sidt2 |
A |
T |
9: 45,850,759 (GRCm39) |
|
probably null |
Het |
Slc11a1 |
G |
A |
1: 74,424,343 (GRCm39) |
A434T |
probably damaging |
Het |
Slc28a2b |
A |
T |
2: 122,324,854 (GRCm39) |
N142I |
possibly damaging |
Het |
Slc4a10 |
G |
A |
2: 62,097,915 (GRCm39) |
R508H |
probably benign |
Het |
Slc5a8 |
A |
T |
10: 88,722,460 (GRCm39) |
I98F |
possibly damaging |
Het |
Slf2 |
T |
A |
19: 44,923,692 (GRCm39) |
S169T |
possibly damaging |
Het |
Snx33 |
A |
T |
9: 56,833,475 (GRCm39) |
I198N |
probably damaging |
Het |
Spock3 |
A |
G |
8: 63,808,299 (GRCm39) |
T396A |
probably benign |
Het |
Sva |
A |
T |
6: 42,015,351 (GRCm39) |
|
probably benign |
Het |
Syt7 |
A |
G |
19: 10,416,601 (GRCm39) |
N261S |
probably benign |
Het |
Taar7b |
T |
G |
10: 23,876,359 (GRCm39) |
S175A |
probably benign |
Het |
Thoc2 |
C |
T |
X: 40,895,570 (GRCm39) |
E1491K |
probably damaging |
Het |
Tlr1 |
T |
C |
5: 65,083,743 (GRCm39) |
Y278C |
probably benign |
Het |
Tph2 |
T |
A |
10: 114,987,079 (GRCm39) |
Y237F |
probably benign |
Het |
Trim35 |
C |
T |
14: 66,546,421 (GRCm39) |
|
probably benign |
Het |
Trpm4 |
T |
G |
7: 44,959,893 (GRCm39) |
Y667S |
probably damaging |
Het |
Ttc27 |
T |
A |
17: 75,106,337 (GRCm39) |
H541Q |
probably damaging |
Het |
Ube4a |
T |
C |
9: 44,851,387 (GRCm39) |
H709R |
probably damaging |
Het |
Vwa7 |
G |
A |
17: 35,243,166 (GRCm39) |
V615I |
probably benign |
Het |
Wars2 |
A |
G |
3: 99,094,849 (GRCm39) |
H48R |
probably damaging |
Het |
Xlr4c |
T |
A |
X: 72,282,290 (GRCm39) |
K121M |
probably damaging |
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 |
|
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 |
R8803:Zfc3h1
|
UTSW |
10 |
115,247,800 (GRCm39) |
missense |
probably benign |
|
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'- AACGCTTTGTCCTGTCTTTGAAAC -3'
(R):5'- TGTGTTACCCCAATGTTTGAGTTTC -3'
Sequencing Primer
(F):5'- GTCCTGTCTTTGAAACATACAGGCTG -3'
(R):5'- CCCCAATGTTTGAGTTTCAGAAAG -3'
|
Posted On |
2016-06-06 |