Incidental Mutation 'R5932:Zfc3h1'
| ID |
461945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfc3h1
|
| Ensembl Gene |
ENSMUSG00000034163 |
| Gene Name |
zinc finger, C3H1-type containing |
| Synonyms |
Ccdc131, Psrc2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R5932 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
115220864-115268677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115236815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 430
(T430S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036044]
|
| AlphaFold |
B2RT41 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036044
AA Change: T430S
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044069
Gene: ENSMUSG00000034163
AA Change: T430S
| 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: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
A |
19: 31,870,518 (GRCm39) |
S7T |
possibly damaging |
Het |
| Aatk |
C |
T |
11: 119,912,359 (GRCm39) |
G29S |
probably damaging |
Het |
| Akap1 |
A |
G |
11: 88,722,585 (GRCm39) |
L890P |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,259,932 (GRCm39) |
M49K |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,413,295 (GRCm39) |
N1206K |
probably damaging |
Het |
| Bbs7 |
G |
A |
3: 36,636,847 (GRCm39) |
T480I |
probably benign |
Het |
| Bbs9 |
A |
G |
9: 22,723,627 (GRCm39) |
E769G |
probably damaging |
Het |
| Bpgm |
T |
A |
6: 34,464,860 (GRCm39) |
S192R |
probably damaging |
Het |
| Brinp1 |
C |
A |
4: 68,711,178 (GRCm39) |
K343N |
probably benign |
Het |
| Cabyr |
T |
G |
18: 12,887,407 (GRCm39) |
V185G |
probably damaging |
Het |
| Cadm1 |
C |
A |
9: 47,710,749 (GRCm39) |
D217E |
probably damaging |
Het |
| Camk1g |
T |
A |
1: 193,036,347 (GRCm39) |
E171V |
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,023,570 (GRCm39) |
M825K |
possibly damaging |
Het |
| Ccdc27 |
A |
G |
4: 154,111,231 (GRCm39) |
V627A |
probably benign |
Het |
| Ccdc40 |
T |
G |
11: 119,141,838 (GRCm39) |
I808R |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,228,763 (GRCm39) |
R1140C |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,916,905 (GRCm39) |
V356A |
probably damaging |
Het |
| Cep126 |
T |
A |
9: 8,103,509 (GRCm39) |
D167V |
probably damaging |
Het |
| Chmp4b |
C |
T |
2: 154,533,201 (GRCm39) |
T147I |
probably benign |
Het |
| Clstn3 |
A |
T |
6: 124,415,291 (GRCm39) |
M728K |
probably benign |
Het |
| Col7a1 |
A |
T |
9: 108,809,279 (GRCm39) |
E2618V |
unknown |
Het |
| Cplane1 |
T |
A |
15: 8,274,079 (GRCm39) |
|
probably null |
Het |
| Crls1 |
T |
A |
2: 132,706,087 (GRCm39) |
Y170* |
probably null |
Het |
| Dennd2b |
G |
A |
7: 109,169,223 (GRCm39) |
T24M |
probably damaging |
Het |
| Epas1 |
T |
G |
17: 87,135,074 (GRCm39) |
I569S |
possibly damaging |
Het |
| Fhl3 |
T |
C |
4: 124,599,520 (GRCm39) |
Y32H |
probably damaging |
Het |
| Fibp |
G |
A |
19: 5,514,453 (GRCm39) |
G333D |
probably benign |
Het |
| Frmd4a |
C |
T |
2: 4,534,650 (GRCm39) |
T156I |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,730,435 (GRCm39) |
L873P |
possibly damaging |
Het |
| Gpr141b |
C |
A |
13: 19,913,646 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd3 |
G |
A |
4: 116,859,470 (GRCm39) |
R698H |
possibly damaging |
Het |
| Il17a |
T |
C |
1: 20,803,977 (GRCm39) |
V124A |
probably damaging |
Het |
| Kif14 |
A |
T |
1: 136,444,128 (GRCm39) |
E1373D |
probably benign |
Het |
| Klra4 |
C |
T |
6: 130,030,016 (GRCm39) |
V190M |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,944 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
GGCCG |
GG |
2: 162,809,256 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,357,810 (GRCm39) |
I111T |
probably damaging |
Het |
| Lrch3 |
A |
T |
16: 32,796,106 (GRCm39) |
D204V |
probably damaging |
Het |
| Mansc1 |
C |
A |
6: 134,587,478 (GRCm39) |
R233L |
possibly damaging |
Het |
| Mkrn3 |
A |
G |
7: 62,068,655 (GRCm39) |
C379R |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 165,912,045 (GRCm39) |
|
probably null |
Het |
| Neu3 |
A |
T |
7: 99,462,525 (GRCm39) |
C399* |
probably null |
Het |
| Or10ad1 |
T |
G |
15: 98,105,296 (GRCm39) |
*323S |
probably null |
Het |
| Or52e8 |
G |
A |
7: 104,624,862 (GRCm39) |
T114M |
probably damaging |
Het |
| Pcare |
T |
C |
17: 72,058,748 (GRCm39) |
R310G |
probably damaging |
Het |
| Pde5a |
T |
C |
3: 122,634,693 (GRCm39) |
F713L |
probably benign |
Het |
| Pdk1 |
T |
A |
2: 71,713,760 (GRCm39) |
|
probably null |
Het |
| Plin4 |
A |
G |
17: 56,413,356 (GRCm39) |
V423A |
possibly damaging |
Het |
| Pstpip1 |
T |
A |
9: 56,033,214 (GRCm39) |
Y249N |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,068,964 (GRCm39) |
C1673S |
probably benign |
Het |
| Pum1 |
A |
G |
4: 130,457,677 (GRCm39) |
T230A |
probably benign |
Het |
| Qsox1 |
A |
T |
1: 155,665,079 (GRCm39) |
D287E |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,508,387 (GRCm39) |
N770D |
probably damaging |
Het |
| Rtp3 |
T |
A |
9: 110,815,760 (GRCm39) |
I202F |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,585,248 (GRCm39) |
|
probably null |
Het |
| Spmip7 |
A |
G |
11: 11,438,513 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
C |
G |
11: 30,086,136 (GRCm39) |
V1191L |
probably damaging |
Het |
| Tead2 |
T |
C |
7: 44,882,323 (GRCm39) |
Y121H |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,358,575 (GRCm39) |
L3P |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,934,010 (GRCm39) |
I651T |
probably damaging |
Het |
| Usp2 |
A |
G |
9: 44,003,630 (GRCm39) |
I481V |
probably benign |
Het |
| Vps13d |
C |
A |
4: 144,771,611 (GRCm39) |
V4056F |
possibly damaging |
Het |
| Yeats2 |
A |
G |
16: 20,011,913 (GRCm39) |
E496G |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,820,227 (GRCm39) |
K503E |
probably damaging |
Het |
| Zbtb46 |
A |
G |
2: 181,053,713 (GRCm39) |
L333P |
probably benign |
Het |
| Zfp618 |
C |
T |
4: 63,036,803 (GRCm39) |
R368* |
probably null |
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 |
|
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'- GAACTGTCTGAGCTGCAGC -3'
(R):5'- TCTCTCCAAACCCCTACAGGT -3'
Sequencing Primer
(F):5'- CTGCAGCTTCGCCTGTTGG -3'
(R):5'- CCCTACAGGTTCCATGGTGTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation