Incidental Mutation 'R6182:Zfc3h1'
ID |
487046 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfc3h1
|
Ensembl Gene |
ENSMUSG00000034163 |
Gene Name |
zinc finger, C3H1-type containing |
Synonyms |
Ccdc131, Psrc2 |
MMRRC Submission |
044324-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.943)
|
Stock # |
R6182 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
115220864-115268677 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115226764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 274
(T274A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036044]
|
AlphaFold |
B2RT41 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036044
AA Change: T274A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000044069 Gene: ENSMUSG00000034163 AA Change: T274A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218674
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
T |
C |
9: 90,074,489 (GRCm39) |
S884P |
probably benign |
Het |
Akap13 |
C |
A |
7: 75,236,028 (GRCm39) |
A201E |
probably benign |
Het |
Ces1f |
T |
G |
8: 93,983,124 (GRCm39) |
E540A |
probably benign |
Het |
Chid1 |
T |
A |
7: 141,108,415 (GRCm39) |
M137L |
probably benign |
Het |
Chsy3 |
A |
G |
18: 59,312,414 (GRCm39) |
T296A |
probably benign |
Het |
Clec4f |
A |
G |
6: 83,622,284 (GRCm39) |
V519A |
probably benign |
Het |
Clk4 |
T |
A |
11: 51,159,009 (GRCm39) |
F41I |
possibly damaging |
Het |
Cntnap5c |
A |
G |
17: 58,183,390 (GRCm39) |
D32G |
probably benign |
Het |
Ctsl |
T |
C |
13: 64,515,786 (GRCm39) |
Y95C |
probably damaging |
Het |
Cyp2c54 |
T |
C |
19: 40,036,005 (GRCm39) |
M302V |
probably benign |
Het |
Cyp2c65 |
C |
G |
19: 39,049,606 (GRCm39) |
L45V |
probably benign |
Het |
Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
Daam1 |
C |
T |
12: 72,006,661 (GRCm39) |
Q693* |
probably null |
Het |
Dgcr8 |
A |
T |
16: 18,098,172 (GRCm39) |
D406E |
probably benign |
Het |
Dock2 |
G |
T |
11: 34,179,476 (GRCm39) |
P1760Q |
probably damaging |
Het |
Epb41l2 |
G |
A |
10: 25,383,715 (GRCm39) |
R940H |
probably damaging |
Het |
Erc2 |
A |
C |
14: 28,039,210 (GRCm39) |
D951A |
probably damaging |
Het |
Fbxw7 |
T |
C |
3: 84,723,078 (GRCm39) |
|
probably null |
Het |
Frem2 |
T |
A |
3: 53,555,390 (GRCm39) |
I1716F |
probably damaging |
Het |
Fus |
A |
G |
7: 127,576,465 (GRCm39) |
D295G |
probably damaging |
Het |
Gm5093 |
A |
G |
17: 46,750,568 (GRCm39) |
I153T |
probably benign |
Het |
Gnptab |
T |
C |
10: 88,265,342 (GRCm39) |
V318A |
possibly damaging |
Het |
Gpc2 |
T |
C |
5: 138,276,676 (GRCm39) |
D150G |
probably benign |
Het |
Gsc2 |
A |
G |
16: 17,731,483 (GRCm39) |
*215R |
probably null |
Het |
Hectd3 |
T |
C |
4: 116,857,476 (GRCm39) |
S552P |
probably damaging |
Het |
Katnal1 |
C |
A |
5: 148,841,407 (GRCm39) |
K152N |
possibly damaging |
Het |
Kcnh1 |
A |
T |
1: 191,873,361 (GRCm39) |
T16S |
probably damaging |
Het |
Lrrc71 |
T |
C |
3: 87,653,101 (GRCm39) |
D105G |
probably benign |
Het |
Mon2 |
T |
C |
10: 122,874,564 (GRCm39) |
|
probably null |
Het |
Mroh9 |
G |
A |
1: 162,893,612 (GRCm39) |
Q188* |
probably null |
Het |
Mtmr14 |
A |
G |
6: 113,246,469 (GRCm39) |
S81G |
possibly damaging |
Het |
Nrap |
T |
A |
19: 56,350,130 (GRCm39) |
M628L |
probably benign |
Het |
Odad3 |
A |
G |
9: 21,901,698 (GRCm39) |
F553S |
probably damaging |
Het |
Or1o1 |
T |
A |
17: 37,716,883 (GRCm39) |
I148K |
possibly damaging |
Het |
Or5k1 |
A |
G |
16: 58,617,655 (GRCm39) |
Y185H |
probably damaging |
Het |
Pals2 |
A |
G |
6: 50,175,206 (GRCm39) |
I506V |
probably benign |
Het |
Pate4 |
A |
T |
9: 35,519,586 (GRCm39) |
S35T |
possibly damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,815,555 (GRCm39) |
E1452G |
probably benign |
Het |
Pld5 |
T |
C |
1: 175,872,420 (GRCm39) |
D239G |
probably benign |
Het |
Ppef2 |
C |
T |
5: 92,374,925 (GRCm39) |
V728M |
probably damaging |
Het |
Rasip1 |
TGCCGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCGC |
7: 45,277,879 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
Serpina3c |
C |
A |
12: 104,115,690 (GRCm39) |
V285L |
probably benign |
Het |
Serpinb9f |
T |
C |
13: 33,518,405 (GRCm39) |
S302P |
probably damaging |
Het |
Sis |
C |
T |
3: 72,811,626 (GRCm39) |
V1642I |
probably benign |
Het |
Slc12a4 |
G |
A |
8: 106,674,531 (GRCm39) |
L601F |
probably damaging |
Het |
Slc39a6 |
G |
T |
18: 24,734,013 (GRCm39) |
N225K |
probably benign |
Het |
Snrnp70 |
G |
A |
7: 45,026,497 (GRCm39) |
R291* |
probably null |
Het |
Spin1 |
C |
T |
13: 51,298,374 (GRCm39) |
T131I |
probably benign |
Het |
St18 |
T |
G |
1: 6,914,342 (GRCm39) |
|
probably null |
Het |
Stox1 |
A |
G |
10: 62,500,721 (GRCm39) |
L613P |
probably damaging |
Het |
Tgm3 |
T |
G |
2: 129,867,221 (GRCm39) |
Y155* |
probably null |
Het |
Tmem67 |
T |
C |
4: 12,051,402 (GRCm39) |
I809V |
probably benign |
Het |
Tnc |
T |
A |
4: 63,927,033 (GRCm39) |
D831V |
probably damaging |
Het |
Ttll13 |
A |
T |
7: 79,909,981 (GRCm39) |
E762D |
probably benign |
Het |
Unc5b |
A |
T |
10: 60,601,015 (GRCm39) |
V937E |
probably damaging |
Het |
Vmn1r34 |
A |
G |
6: 66,614,312 (GRCm39) |
I142T |
probably damaging |
Het |
Vmn2r104 |
A |
G |
17: 20,250,507 (GRCm39) |
M588T |
probably benign |
Het |
Vmn2r77 |
T |
C |
7: 86,460,957 (GRCm39) |
V761A |
probably damaging |
Het |
Wdr48 |
G |
T |
9: 119,753,832 (GRCm39) |
G665W |
probably damaging |
Het |
Xpot |
T |
A |
10: 121,442,163 (GRCm39) |
R550S |
probably damaging |
Het |
Ydjc |
A |
G |
16: 16,964,943 (GRCm39) |
T33A |
probably benign |
Het |
Zfp202 |
G |
A |
9: 40,118,638 (GRCm39) |
G17E |
probably damaging |
Het |
Zfp788 |
T |
A |
7: 41,299,940 (GRCm39) |
C859S |
probably damaging |
Het |
Zscan4c |
T |
C |
7: 10,740,709 (GRCm39) |
M76T |
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 |
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'- TGCGCTGTTCAGCCAAAAG -3'
(R):5'- AAGGAAAGCTGCCTTGTTCC -3'
Sequencing Primer
(F):5'- GGAAGATCTCCATCAAGAAAACAG -3'
(R):5'- GAAAGCTGCCTTGTTCCATCCTTC -3'
|
Posted On |
2017-10-10 |