Incidental Mutation 'R0731:Zfc3h1'
| ID |
67580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfc3h1
|
| Ensembl Gene |
ENSMUSG00000034163 |
| Gene Name |
zinc finger, C3H1-type containing |
| Synonyms |
Ccdc131, Psrc2 |
| MMRRC Submission |
038912-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R0731 (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 G
at 115246537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 875
(T875A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036044]
|
| AlphaFold |
B2RT41 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036044
AA Change: T875A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000044069
Gene: ENSMUSG00000034163
AA Change: T875A
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
97% (73/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
T |
7: 119,367,247 (GRCm39) |
R27* |
probably null |
Het |
| Actg1 |
A |
G |
11: 120,237,775 (GRCm39) |
F255S |
probably damaging |
Het |
| Ahdc1 |
T |
A |
4: 132,790,262 (GRCm39) |
V501E |
possibly damaging |
Het |
| Alpk2 |
A |
T |
18: 65,438,461 (GRCm39) |
D1444E |
probably damaging |
Het |
| Btaf1 |
T |
G |
19: 36,974,895 (GRCm39) |
|
probably null |
Het |
| Cacnb2 |
A |
G |
2: 14,990,517 (GRCm39) |
H489R |
possibly damaging |
Het |
| Ccdc162 |
C |
A |
10: 41,455,139 (GRCm39) |
K398N |
probably damaging |
Het |
| Cd79b |
G |
T |
11: 106,203,259 (GRCm39) |
S145R |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,394,651 (GRCm39) |
N264Y |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,785,798 (GRCm39) |
D2892G |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,092,205 (GRCm39) |
|
probably benign |
Het |
| Clk3 |
T |
C |
9: 57,658,409 (GRCm39) |
|
probably benign |
Het |
| Dcaf8 |
A |
T |
1: 172,000,076 (GRCm39) |
D78V |
possibly damaging |
Het |
| Dctn1 |
A |
G |
6: 83,160,071 (GRCm39) |
T87A |
probably damaging |
Het |
| Ddx50 |
T |
C |
10: 62,452,028 (GRCm39) |
N732D |
unknown |
Het |
| Dnah5 |
A |
T |
15: 28,311,289 (GRCm39) |
Y1756F |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 106,847,055 (GRCm39) |
V858E |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,865,990 (GRCm39) |
F1566S |
probably benign |
Het |
| Fpr-rs7 |
T |
C |
17: 20,334,116 (GRCm39) |
I125V |
probably benign |
Het |
| Fuca2 |
C |
T |
10: 13,381,771 (GRCm39) |
P228L |
probably benign |
Het |
| Galntl6 |
A |
G |
8: 58,989,018 (GRCm39) |
F57L |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,335,449 (GRCm39) |
|
probably benign |
Het |
| Gm16505 |
A |
T |
13: 3,411,329 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4781 |
T |
C |
10: 100,232,639 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9956 |
T |
A |
10: 56,621,639 (GRCm39) |
Y100* |
probably null |
Het |
| Gpr137c |
T |
A |
14: 45,483,806 (GRCm39) |
C178S |
probably damaging |
Het |
| Gpr83 |
A |
G |
9: 14,779,940 (GRCm39) |
R331G |
probably benign |
Het |
| Hlcs |
T |
A |
16: 93,932,711 (GRCm39) |
H851L |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,476,107 (GRCm39) |
S615G |
probably benign |
Het |
| Kbtbd6 |
C |
A |
14: 79,689,324 (GRCm39) |
Y6* |
probably null |
Het |
| Kif23 |
T |
C |
9: 61,832,314 (GRCm39) |
R610G |
possibly damaging |
Het |
| Kifc3 |
G |
A |
8: 95,832,361 (GRCm39) |
T487I |
probably damaging |
Het |
| Klra5 |
A |
C |
6: 129,885,759 (GRCm39) |
D133E |
possibly damaging |
Het |
| Klra6 |
T |
C |
6: 129,999,668 (GRCm39) |
E100G |
probably damaging |
Het |
| Klre1 |
T |
A |
6: 129,562,531 (GRCm39) |
|
probably benign |
Het |
| Lancl1 |
C |
T |
1: 67,049,069 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Man1b1 |
A |
G |
2: 25,228,167 (GRCm39) |
I146V |
possibly damaging |
Het |
| Map4k5 |
T |
A |
12: 69,921,038 (GRCm39) |
|
probably benign |
Het |
| Mast3 |
A |
G |
8: 71,233,965 (GRCm39) |
S178P |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,476,262 (GRCm39) |
|
probably null |
Het |
| Mgat4f |
A |
C |
1: 134,317,713 (GRCm39) |
M162L |
probably benign |
Het |
| Mkrn2 |
A |
T |
6: 115,591,612 (GRCm39) |
N312Y |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,093,359 (GRCm39) |
E150G |
probably damaging |
Het |
| Myo7b |
T |
A |
18: 32,094,878 (GRCm39) |
|
probably null |
Het |
| Nyap1 |
A |
G |
5: 137,733,560 (GRCm39) |
V491A |
probably damaging |
Het |
| Or10a3 |
A |
T |
7: 108,480,740 (GRCm39) |
N24K |
probably damaging |
Het |
| Or4g17 |
A |
G |
2: 111,209,638 (GRCm39) |
M98V |
probably damaging |
Het |
| Or5p60 |
T |
C |
7: 107,723,941 (GRCm39) |
I176M |
probably benign |
Het |
| Or8g34 |
T |
C |
9: 39,372,828 (GRCm39) |
F34L |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,240,893 (GRCm38) |
H385Q |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,892,590 (GRCm39) |
S242P |
probably damaging |
Het |
| Pdzd7 |
T |
C |
19: 45,017,744 (GRCm39) |
Y675C |
probably damaging |
Het |
| Pnkd |
T |
A |
1: 74,390,700 (GRCm39) |
H266Q |
probably damaging |
Het |
| Rbfox2 |
A |
G |
15: 76,983,479 (GRCm39) |
S141P |
probably benign |
Het |
| Rdx |
A |
G |
9: 51,979,518 (GRCm39) |
T214A |
probably benign |
Het |
| Ripor2 |
A |
T |
13: 24,864,627 (GRCm39) |
E219V |
probably damaging |
Het |
| Rlig1 |
T |
C |
10: 100,422,065 (GRCm39) |
T66A |
probably damaging |
Het |
| Rufy2 |
G |
A |
10: 62,847,623 (GRCm39) |
|
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,964,165 (GRCm39) |
|
probably benign |
Het |
| Snrnp200 |
G |
T |
2: 127,068,065 (GRCm39) |
|
probably benign |
Het |
| Snx7 |
T |
A |
3: 117,623,320 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
T |
C |
9: 36,646,808 (GRCm39) |
I602V |
probably damaging |
Het |
| Tacr3 |
G |
A |
3: 134,560,761 (GRCm39) |
|
probably null |
Het |
| Tcerg1 |
C |
T |
18: 42,704,905 (GRCm39) |
T978M |
probably damaging |
Het |
| Tcf7l1 |
G |
T |
6: 72,765,252 (GRCm39) |
P126Q |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,556 (GRCm39) |
D860G |
probably damaging |
Het |
| Try4 |
T |
C |
6: 41,281,301 (GRCm39) |
L81P |
probably benign |
Het |
| Ucp1 |
T |
C |
8: 84,024,476 (GRCm39) |
|
probably benign |
Het |
| Ugt2b38 |
G |
A |
5: 87,568,311 (GRCm39) |
A328V |
probably damaging |
Het |
| Wfikkn1 |
T |
A |
17: 26,096,991 (GRCm39) |
R444S |
probably damaging |
Het |
| Zfp11 |
A |
G |
5: 129,734,328 (GRCm39) |
S378P |
probably damaging |
Het |
| Zfp984 |
T |
A |
4: 147,840,689 (GRCm39) |
N54I |
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 |
|
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 |
|
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'- TGTCTTCAGTTTATGACCGGAGTTGTCT -3'
(R):5'- GTCAACGCTTTCTTAATGGTAACACGC -3'
Sequencing Primer
(F):5'- ATGACCGGAGTTGTCTCTTTC -3'
(R):5'- ctcagttcccagcaccc -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation