Incidental Mutation 'IGL03253:Zfand4'
| ID |
414579 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfand4
|
| Ensembl Gene |
ENSMUSG00000042213 |
| Gene Name |
zinc finger, AN1-type domain 4 |
| Synonyms |
Anubl1, 2810002D23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
IGL03253
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
116241183-116307263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116261770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 111
(D111V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036503]
[ENSMUST00000112900]
[ENSMUST00000220845]
[ENSMUST00000221069]
[ENSMUST00000222494]
[ENSMUST00000223495]
[ENSMUST00000222819]
|
| AlphaFold |
D3Z3C6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036503
AA Change: D111V
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000040057
Gene: ENSMUSG00000042213
AA Change: D111V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
118 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
472 |
N/A |
INTRINSIC |
|
ZnF_AN1
|
554 |
592 |
4.18e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112900
AA Change: D111V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108521
Gene: ENSMUSG00000042213
AA Change: D111V
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
54 |
125 |
4.11e-15 |
SMART |
|
low complexity region
|
262 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
602 |
616 |
N/A |
INTRINSIC |
|
ZnF_AN1
|
698 |
736 |
4.18e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220845
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222144
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222494
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223495
AA Change: D111V
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222819
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,187,657 (GRCm39) |
V98I |
probably benign |
Het |
| Aadacl4 |
G |
T |
4: 144,349,858 (GRCm39) |
V372L |
probably benign |
Het |
| Acp5 |
A |
T |
9: 22,039,083 (GRCm39) |
I210N |
probably damaging |
Het |
| Ash1l |
G |
A |
3: 88,891,981 (GRCm39) |
A1287T |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,214,002 (GRCm39) |
C72S |
probably damaging |
Het |
| Ccdc178 |
G |
A |
18: 21,978,068 (GRCm39) |
Q800* |
probably null |
Het |
| Cd47 |
A |
T |
16: 49,714,561 (GRCm39) |
H190L |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,777,324 (GRCm39) |
H849L |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,227,778 (GRCm39) |
Q2437* |
probably null |
Het |
| Depdc5 |
T |
C |
5: 33,026,157 (GRCm39) |
|
probably benign |
Het |
| Erp44 |
T |
A |
4: 48,208,750 (GRCm39) |
I237F |
probably benign |
Het |
| Gramd1a |
C |
T |
7: 30,839,271 (GRCm39) |
W8* |
probably null |
Het |
| Gucy2d |
C |
T |
7: 98,100,871 (GRCm39) |
A398V |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,871,875 (GRCm39) |
E1357G |
possibly damaging |
Het |
| Ighv1-11 |
T |
C |
12: 114,579,468 (GRCm39) |
|
probably benign |
Het |
| Itih3 |
A |
C |
14: 30,633,880 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
A |
G |
14: 20,192,405 (GRCm39) |
V252A |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,415,198 (GRCm39) |
E771G |
probably damaging |
Het |
| Klc1 |
T |
C |
12: 111,748,078 (GRCm39) |
|
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,510,408 (GRCm39) |
E567G |
possibly damaging |
Het |
| Or4a70 |
A |
G |
2: 89,324,143 (GRCm39) |
V171A |
possibly damaging |
Het |
| Pfpl |
A |
G |
19: 12,407,393 (GRCm39) |
D548G |
probably damaging |
Het |
| Psma5-ps |
A |
G |
10: 85,149,556 (GRCm39) |
|
noncoding transcript |
Het |
| Rad54l2 |
A |
G |
9: 106,581,422 (GRCm39) |
V833A |
probably damaging |
Het |
| Scnn1g |
A |
T |
7: 121,337,156 (GRCm39) |
K6* |
probably null |
Het |
| Sun1 |
T |
C |
5: 139,209,341 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,053,434 (GRCm39) |
|
probably null |
Het |
| Ttc1 |
T |
A |
11: 43,629,650 (GRCm39) |
E172V |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,599,364 (GRCm39) |
V19215A |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,378,092 (GRCm39) |
I461V |
probably benign |
Het |
| Wdr73 |
A |
G |
7: 80,547,694 (GRCm39) |
M110T |
probably benign |
Het |
| Zscan4f |
T |
A |
7: 11,135,270 (GRCm39) |
N225K |
probably benign |
Het |
|
| Other mutations in Zfand4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01415:Zfand4
|
APN |
6 |
116,291,830 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02001:Zfand4
|
APN |
6 |
116,250,613 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02047:Zfand4
|
APN |
6 |
116,291,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Zfand4
|
APN |
6 |
116,250,617 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02943:Zfand4
|
APN |
6 |
116,250,837 (GRCm39) |
splice site |
probably benign |
|
|
IGL03058:Zfand4
|
APN |
6 |
116,265,038 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03130:Zfand4
|
APN |
6 |
116,250,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4802001:Zfand4
|
UTSW |
6 |
116,261,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Zfand4
|
UTSW |
6 |
116,305,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Zfand4
|
UTSW |
6 |
116,291,700 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0446:Zfand4
|
UTSW |
6 |
116,265,015 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0508:Zfand4
|
UTSW |
6 |
116,262,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1385:Zfand4
|
UTSW |
6 |
116,250,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1577:Zfand4
|
UTSW |
6 |
116,306,373 (GRCm39) |
nonsense |
probably null |
|
|
R2179:Zfand4
|
UTSW |
6 |
116,291,742 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3862:Zfand4
|
UTSW |
6 |
116,270,776 (GRCm39) |
intron |
probably benign |
|
|
R4607:Zfand4
|
UTSW |
6 |
116,305,195 (GRCm39) |
nonsense |
probably null |
|
|
R4608:Zfand4
|
UTSW |
6 |
116,305,195 (GRCm39) |
nonsense |
probably null |
|
|
R4720:Zfand4
|
UTSW |
6 |
116,265,122 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4724:Zfand4
|
UTSW |
6 |
116,250,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Zfand4
|
UTSW |
6 |
116,291,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5541:Zfand4
|
UTSW |
6 |
116,291,256 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5721:Zfand4
|
UTSW |
6 |
116,264,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5901:Zfand4
|
UTSW |
6 |
116,265,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6253:Zfand4
|
UTSW |
6 |
116,250,575 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6798:Zfand4
|
UTSW |
6 |
116,305,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7030:Zfand4
|
UTSW |
6 |
116,282,618 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7081:Zfand4
|
UTSW |
6 |
116,292,581 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7082:Zfand4
|
UTSW |
6 |
116,305,337 (GRCm39) |
splice site |
probably null |
|
|
R8147:Zfand4
|
UTSW |
6 |
116,291,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8703:Zfand4
|
UTSW |
6 |
116,250,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8973:Zfand4
|
UTSW |
6 |
116,291,041 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9659:Zfand4
|
UTSW |
6 |
116,282,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Zfand4
|
UTSW |
6 |
116,290,882 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Zfand4
|
UTSW |
6 |
116,290,882 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation