Incidental Mutation 'R2365:Zc3hav1'
| ID |
246290 |
| 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 |
040346-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R2365 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
38282221-38331538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38317168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 144
(F144S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031850]
[ENSMUST00000114898]
[ENSMUST00000114900]
[ENSMUST00000143702]
|
| AlphaFold |
Q3UPF5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031850
AA Change: F144S
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000031850
Gene: ENSMUSG00000029826
AA Change: F144S
| 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 damaging
Transcript: ENSMUST00000114898
AA Change: F144S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110548
Gene: ENSMUSG00000029826
AA Change: F144S
| 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 |
possibly damaging
Transcript: ENSMUST00000114900
AA Change: F144S
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110550
Gene: ENSMUSG00000029826
AA Change: F144S
| 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: F144S
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000144312
Gene: ENSMUSG00000029826
AA Change: F144S
| 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 |
0.4752 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
94% (34/36) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
T |
A |
16: 29,070,008 (GRCm39) |
K959N |
probably benign |
Het |
| C4b |
G |
A |
17: 34,955,032 (GRCm39) |
|
probably benign |
Het |
| Cdhr2 |
T |
G |
13: 54,865,901 (GRCm39) |
S268R |
probably benign |
Het |
| Erc1 |
A |
G |
6: 119,552,656 (GRCm39) |
L1094P |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,034,568 (GRCm39) |
H2740R |
probably benign |
Het |
| Galnt13 |
A |
G |
2: 54,744,709 (GRCm39) |
Y136C |
possibly damaging |
Het |
| Gipc2 |
A |
G |
3: 151,833,831 (GRCm39) |
I150T |
possibly damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm21957 |
T |
C |
7: 124,818,629 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5591 |
T |
A |
7: 38,218,825 (GRCm39) |
R683W |
probably damaging |
Het |
| Gm826 |
A |
G |
2: 160,169,130 (GRCm39) |
S60P |
unknown |
Het |
| Hsd17b7 |
T |
C |
1: 169,792,009 (GRCm39) |
D133G |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,444,805 (GRCm39) |
T55A |
probably benign |
Het |
| Mff |
T |
C |
1: 82,713,192 (GRCm39) |
V129A |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,147,384 (GRCm39) |
L53P |
probably damaging |
Het |
| Neo1 |
A |
G |
9: 58,863,286 (GRCm39) |
V427A |
probably benign |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Or52e19 |
A |
T |
7: 102,959,380 (GRCm39) |
I151L |
probably benign |
Het |
| Pfkfb3 |
C |
T |
2: 11,498,713 (GRCm39) |
|
probably null |
Het |
| Pom121l2 |
A |
G |
13: 22,167,954 (GRCm39) |
T742A |
probably benign |
Het |
| Pon1 |
A |
G |
6: 5,171,746 (GRCm39) |
S302P |
probably damaging |
Het |
| Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
| Sall3 |
G |
C |
18: 81,015,007 (GRCm39) |
P974A |
probably benign |
Het |
| Slc1a2 |
T |
A |
2: 102,578,798 (GRCm39) |
|
probably null |
Het |
| Slc22a6 |
A |
G |
19: 8,596,761 (GRCm39) |
T180A |
probably benign |
Het |
| Slc40a1 |
T |
C |
1: 45,963,873 (GRCm39) |
|
probably null |
Het |
| Slc6a5 |
T |
C |
7: 49,596,284 (GRCm39) |
S585P |
possibly damaging |
Het |
| Tbpl1 |
A |
G |
10: 22,581,785 (GRCm39) |
V164A |
possibly damaging |
Het |
| Tmem98 |
A |
T |
11: 80,706,511 (GRCm39) |
I95F |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,111,188 (GRCm39) |
P571T |
possibly damaging |
Het |
| Vars1 |
A |
G |
17: 35,234,428 (GRCm39) |
N1125D |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,813,894 (GRCm39) |
|
probably benign |
Het |
| Zbtb18 |
A |
T |
1: 177,275,723 (GRCm39) |
E361V |
probably benign |
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 |
|
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 |
|
R6261:Zc3hav1
|
UTSW |
6 |
38,309,935 (GRCm39) |
missense |
probably benign |
0.24 |
|
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'- AGCCATGTGGACCCAAATTC -3'
(R):5'- TCATTTCCGCTGTGACGTGC -3'
Sequencing Primer
(F):5'- ATTTGTTCAGACAGGGTCTCACCAG -3'
(R):5'- CGTGCAAACATTGACAGTTGTCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation