Incidental Mutation 'R6261:Zc3hav1'
ID |
506693 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3hav1
|
Ensembl Gene |
ENSMUSG00000029826 |
Gene Name |
zinc finger CCCH type, antiviral 1 |
Synonyms |
9830115L13Rik, ZAP, 1200014N16Rik, 2900058M19Rik, 9130009D18Rik |
MMRRC Submission |
044404-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R6261 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
38282221-38331538 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 38309935 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 296
(Y296N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110550
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031850]
[ENSMUST00000114898]
[ENSMUST00000114900]
[ENSMUST00000143702]
|
AlphaFold |
Q3UPF5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031850
AA Change: Y296N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000031850 Gene: ENSMUSG00000029826 AA Change: Y296N
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
internal_repeat_1
|
80 |
127 |
9.6e-6 |
PROSPERO |
internal_repeat_1
|
166 |
208 |
9.6e-6 |
PROSPERO |
low complexity region
|
338 |
350 |
N/A |
INTRINSIC |
low complexity region
|
535 |
545 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114898
AA Change: Y296N
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000110548 Gene: ENSMUSG00000029826 AA Change: Y296N
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
internal_repeat_1
|
80 |
127 |
8.18e-6 |
PROSPERO |
internal_repeat_1
|
166 |
208 |
8.18e-6 |
PROSPERO |
low complexity region
|
338 |
350 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114900
AA Change: Y296N
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000110550 Gene: ENSMUSG00000029826 AA Change: Y296N
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
internal_repeat_1
|
80 |
127 |
1.94e-5 |
PROSPERO |
internal_repeat_1
|
166 |
208 |
1.94e-5 |
PROSPERO |
low complexity region
|
338 |
350 |
N/A |
INTRINSIC |
low complexity region
|
535 |
545 |
N/A |
INTRINSIC |
Pfam:WWE
|
695 |
772 |
2.8e-15 |
PFAM |
Pfam:PARP
|
817 |
986 |
1.3e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143702
AA Change: Y296N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000144312 Gene: ENSMUSG00000029826 AA Change: Y296N
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
internal_repeat_1
|
80 |
127 |
1.8e-5 |
PROSPERO |
internal_repeat_1
|
166 |
208 |
1.8e-5 |
PROSPERO |
low complexity region
|
338 |
350 |
N/A |
INTRINSIC |
low complexity region
|
535 |
545 |
N/A |
INTRINSIC |
Pfam:WWE
|
695 |
772 |
1e-15 |
PFAM |
Pfam:PARP
|
817 |
922 |
1.9e-12 |
PFAM |
|
Meta Mutation Damage Score |
0.0661 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
Validation Efficiency |
100% (65/65) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a CCCH-type zinc finger protein that is thought to prevent infection by retroviruses. Studies of the rat homolog indicate that the protein may primarily function to inhibit viral gene expression and induce an innate immunity to viral infection. Alternative splicing occurs at this locus and two variants, each encoding distinct isoforms, are described. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced murine leukemia virus replication efficiency in mouse embryonic fibroblasts. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot8 |
T |
C |
2: 164,636,979 (GRCm39) |
D257G |
probably damaging |
Het |
Adamtsl1 |
T |
C |
4: 86,255,115 (GRCm39) |
V736A |
probably benign |
Het |
Anln |
A |
G |
9: 22,275,342 (GRCm39) |
L521S |
probably damaging |
Het |
Arfgap2 |
T |
G |
2: 91,100,627 (GRCm39) |
S311A |
probably benign |
Het |
Brdt |
A |
T |
5: 107,496,369 (GRCm39) |
E160D |
probably benign |
Het |
Ccdc187 |
A |
G |
2: 26,166,215 (GRCm39) |
I738T |
probably damaging |
Het |
Cd59a |
G |
C |
2: 103,934,550 (GRCm39) |
G6A |
probably damaging |
Het |
Cd5l |
C |
T |
3: 87,275,915 (GRCm39) |
P295L |
probably benign |
Het |
Cdhr17 |
T |
C |
5: 17,017,183 (GRCm39) |
|
noncoding transcript |
Het |
Cnot1 |
A |
G |
8: 96,468,549 (GRCm39) |
S1432P |
probably benign |
Het |
Cnot8 |
T |
A |
11: 58,004,877 (GRCm39) |
I192N |
probably damaging |
Het |
Col4a1 |
G |
T |
8: 11,257,409 (GRCm39) |
|
probably null |
Het |
Cuta |
A |
G |
17: 27,158,301 (GRCm39) |
L11P |
possibly damaging |
Het |
Cyp2c39 |
G |
A |
19: 39,556,463 (GRCm39) |
R433H |
probably damaging |
Het |
Cyp4a12b |
T |
A |
4: 115,271,740 (GRCm39) |
Y150* |
probably null |
Het |
Dcaf15 |
G |
A |
8: 84,825,734 (GRCm39) |
A291V |
probably benign |
Het |
Dcstamp |
A |
T |
15: 39,618,131 (GRCm39) |
H180L |
possibly damaging |
Het |
Egfr |
A |
G |
11: 16,839,964 (GRCm39) |
I659M |
probably benign |
Het |
Fzd8 |
A |
G |
18: 9,214,598 (GRCm39) |
E560G |
possibly damaging |
Het |
Gm5111 |
A |
T |
6: 48,566,526 (GRCm39) |
|
probably benign |
Het |
Gm7945 |
T |
C |
14: 41,104,780 (GRCm39) |
T214A |
unknown |
Het |
Gpi1 |
T |
C |
7: 33,920,170 (GRCm39) |
T168A |
possibly damaging |
Het |
Gys2 |
T |
C |
6: 142,405,134 (GRCm39) |
I218V |
probably benign |
Het |
Gzmf |
T |
A |
14: 56,443,949 (GRCm39) |
I74L |
probably benign |
Het |
Hacl1 |
G |
A |
14: 31,357,728 (GRCm39) |
A70V |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,846,820 (GRCm39) |
L3590* |
probably null |
Het |
Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
Igfals |
G |
T |
17: 25,100,339 (GRCm39) |
V477F |
possibly damaging |
Het |
Igkv8-28 |
A |
T |
6: 70,120,874 (GRCm39) |
V23E |
probably benign |
Het |
Isg20l2 |
T |
A |
3: 87,839,395 (GRCm39) |
V202E |
probably damaging |
Het |
Jakmip2 |
A |
G |
18: 43,708,599 (GRCm39) |
I288T |
probably benign |
Het |
Kansl3 |
A |
G |
1: 36,404,686 (GRCm39) |
V88A |
probably benign |
Het |
Kcna3 |
A |
G |
3: 106,945,266 (GRCm39) |
T510A |
possibly damaging |
Het |
Map2k5 |
G |
T |
9: 63,245,380 (GRCm39) |
L140I |
probably benign |
Het |
Map3k19 |
A |
G |
1: 127,750,336 (GRCm39) |
I1005T |
possibly damaging |
Het |
Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
Ms4a14 |
T |
A |
19: 11,281,384 (GRCm39) |
E391D |
probably benign |
Het |
Mtrf1l |
A |
G |
10: 5,765,550 (GRCm39) |
|
probably null |
Het |
Myom1 |
A |
G |
17: 71,433,132 (GRCm39) |
N1591S |
probably damaging |
Het |
Nos1 |
G |
A |
5: 118,074,635 (GRCm39) |
V1060M |
probably benign |
Het |
Nsun5 |
C |
T |
5: 135,400,385 (GRCm39) |
T142M |
probably damaging |
Het |
Odc1 |
A |
G |
12: 17,600,655 (GRCm39) |
E430G |
probably benign |
Het |
Or8g36 |
C |
A |
9: 39,422,105 (GRCm39) |
V304F |
probably benign |
Het |
P2ry12 |
T |
C |
3: 59,125,328 (GRCm39) |
I116V |
probably null |
Het |
Patl1 |
T |
A |
19: 11,897,695 (GRCm39) |
V94E |
probably damaging |
Het |
Plin3 |
A |
T |
17: 56,588,488 (GRCm39) |
Y255* |
probably null |
Het |
Pou6f1 |
T |
C |
15: 100,477,827 (GRCm39) |
T439A |
probably damaging |
Het |
Prdm13 |
T |
C |
4: 21,678,366 (GRCm39) |
K708R |
probably damaging |
Het |
Prr14l |
A |
G |
5: 32,986,748 (GRCm39) |
S916P |
possibly damaging |
Het |
Rab34 |
T |
A |
11: 78,082,028 (GRCm39) |
|
probably null |
Het |
Rps7 |
A |
G |
12: 28,685,593 (GRCm39) |
S21P |
possibly damaging |
Het |
Scn9a |
A |
T |
2: 66,314,240 (GRCm39) |
L1815Q |
probably damaging |
Het |
Sesn3 |
A |
G |
9: 14,232,459 (GRCm39) |
Y244C |
probably benign |
Het |
Slc15a2 |
A |
G |
16: 36,581,973 (GRCm39) |
F284L |
probably benign |
Het |
Slc25a44 |
C |
T |
3: 88,328,218 (GRCm39) |
G72D |
probably damaging |
Het |
Slco6d1 |
A |
G |
1: 98,427,588 (GRCm39) |
T640A |
probably benign |
Het |
Sspo |
A |
T |
6: 48,439,125 (GRCm39) |
E1591V |
possibly damaging |
Het |
Tbata |
C |
A |
10: 61,011,644 (GRCm39) |
T60K |
possibly damaging |
Het |
Tbc1d2 |
T |
A |
4: 46,637,692 (GRCm39) |
T185S |
possibly damaging |
Het |
Tlcd4 |
T |
A |
3: 121,028,708 (GRCm39) |
I60F |
possibly damaging |
Het |
Tmem87a |
A |
G |
2: 120,234,502 (GRCm39) |
S14P |
possibly damaging |
Het |
Tnnt2 |
C |
A |
1: 135,778,292 (GRCm39) |
|
probably null |
Het |
Trex1 |
A |
G |
9: 108,887,709 (GRCm39) |
V94A |
probably benign |
Het |
Ubtfl1 |
A |
C |
9: 18,320,592 (GRCm39) |
D40A |
possibly damaging |
Het |
Zfp521 |
T |
A |
18: 13,977,684 (GRCm39) |
N910Y |
probably damaging |
Het |
Zfp53 |
A |
G |
17: 21,728,975 (GRCm39) |
E336G |
possibly damaging |
Het |
|
Other mutations in Zc3hav1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01934:Zc3hav1
|
APN |
6 |
38,296,768 (GRCm39) |
splice site |
probably null |
|
IGL02225:Zc3hav1
|
APN |
6 |
38,317,276 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02266:Zc3hav1
|
APN |
6 |
38,309,103 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02458:Zc3hav1
|
APN |
6 |
38,317,264 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02626:Zc3hav1
|
APN |
6 |
38,309,926 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02725:Zc3hav1
|
APN |
6 |
38,309,127 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02958:Zc3hav1
|
APN |
6 |
38,309,919 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03104:Zc3hav1
|
APN |
6 |
38,317,278 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03137:Zc3hav1
|
APN |
6 |
38,309,329 (GRCm39) |
missense |
probably benign |
|
IGL03238:Zc3hav1
|
APN |
6 |
38,309,685 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03380:Zc3hav1
|
APN |
6 |
38,313,493 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03055:Zc3hav1
|
UTSW |
6 |
38,293,251 (GRCm39) |
splice site |
probably null |
|
P0038:Zc3hav1
|
UTSW |
6 |
38,309,469 (GRCm39) |
missense |
probably damaging |
0.98 |
R0006:Zc3hav1
|
UTSW |
6 |
38,296,637 (GRCm39) |
critical splice donor site |
probably null |
|
R0207:Zc3hav1
|
UTSW |
6 |
38,288,109 (GRCm39) |
missense |
probably benign |
0.00 |
R0255:Zc3hav1
|
UTSW |
6 |
38,313,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R0452:Zc3hav1
|
UTSW |
6 |
38,284,372 (GRCm39) |
missense |
probably benign |
0.01 |
R0505:Zc3hav1
|
UTSW |
6 |
38,309,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R0865:Zc3hav1
|
UTSW |
6 |
38,330,837 (GRCm39) |
splice site |
probably benign |
|
R1281:Zc3hav1
|
UTSW |
6 |
38,330,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R1531:Zc3hav1
|
UTSW |
6 |
38,284,170 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1873:Zc3hav1
|
UTSW |
6 |
38,309,692 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1991:Zc3hav1
|
UTSW |
6 |
38,313,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R2149:Zc3hav1
|
UTSW |
6 |
38,313,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R2184:Zc3hav1
|
UTSW |
6 |
38,284,343 (GRCm39) |
missense |
probably damaging |
0.99 |
R2365:Zc3hav1
|
UTSW |
6 |
38,317,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R2924:Zc3hav1
|
UTSW |
6 |
38,331,045 (GRCm39) |
missense |
probably damaging |
0.97 |
R3237:Zc3hav1
|
UTSW |
6 |
38,296,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R3710:Zc3hav1
|
UTSW |
6 |
38,309,097 (GRCm39) |
missense |
probably benign |
0.35 |
R5683:Zc3hav1
|
UTSW |
6 |
38,284,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R5684:Zc3hav1
|
UTSW |
6 |
38,288,214 (GRCm39) |
missense |
probably benign |
0.01 |
R5905:Zc3hav1
|
UTSW |
6 |
38,284,275 (GRCm39) |
missense |
probably benign |
0.03 |
R5959:Zc3hav1
|
UTSW |
6 |
38,284,379 (GRCm39) |
missense |
probably benign |
0.01 |
R6028:Zc3hav1
|
UTSW |
6 |
38,284,275 (GRCm39) |
missense |
probably benign |
0.03 |
R6465:Zc3hav1
|
UTSW |
6 |
38,308,784 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6682:Zc3hav1
|
UTSW |
6 |
38,302,130 (GRCm39) |
missense |
probably benign |
0.02 |
R6831:Zc3hav1
|
UTSW |
6 |
38,309,103 (GRCm39) |
missense |
probably benign |
0.01 |
R7082:Zc3hav1
|
UTSW |
6 |
38,309,328 (GRCm39) |
nonsense |
probably null |
|
R7196:Zc3hav1
|
UTSW |
6 |
38,306,207 (GRCm39) |
missense |
probably benign |
|
R7248:Zc3hav1
|
UTSW |
6 |
38,330,911 (GRCm39) |
missense |
probably benign |
0.04 |
R7319:Zc3hav1
|
UTSW |
6 |
38,309,209 (GRCm39) |
missense |
probably benign |
|
R7506:Zc3hav1
|
UTSW |
6 |
38,309,875 (GRCm39) |
nonsense |
probably null |
|
R7593:Zc3hav1
|
UTSW |
6 |
38,306,121 (GRCm39) |
missense |
probably benign |
0.01 |
R7788:Zc3hav1
|
UTSW |
6 |
38,309,691 (GRCm39) |
missense |
probably benign |
0.02 |
R7885:Zc3hav1
|
UTSW |
6 |
38,313,598 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7892:Zc3hav1
|
UTSW |
6 |
38,306,156 (GRCm39) |
missense |
probably benign |
0.25 |
R8109:Zc3hav1
|
UTSW |
6 |
38,306,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R8769:Zc3hav1
|
UTSW |
6 |
38,313,416 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8880:Zc3hav1
|
UTSW |
6 |
38,288,212 (GRCm39) |
missense |
probably benign |
|
R9002:Zc3hav1
|
UTSW |
6 |
38,302,176 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9527:Zc3hav1
|
UTSW |
6 |
38,330,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R9558:Zc3hav1
|
UTSW |
6 |
38,331,042 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGAGGTTCGACTTGTGG -3'
(R):5'- AACTAACCCGAGCTTGAATTTTCTC -3'
Sequencing Primer
(F):5'- TTCGACTTGTGGACGAATCAGAAC -3'
(R):5'- CCGAGCTTGAATTTTCTCTCTGGG -3'
|
Posted On |
2018-03-15 |