Incidental Mutation 'IGL03130:Zfand4'
| ID |
410299 |
| 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: 0.108)
|
| Stock # |
IGL03130
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
116241183-116307263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116250620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 17
(Y17N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036503]
[ENSMUST00000112900]
[ENSMUST00000220845]
[ENSMUST00000222494]
[ENSMUST00000222819]
[ENSMUST00000223495]
|
| AlphaFold |
D3Z3C6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036503
AA Change: Y17N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040057
Gene: ENSMUSG00000042213
AA Change: Y17N
| 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 |
possibly damaging
Transcript: ENSMUST00000112900
AA Change: Y17N
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108521
Gene: ENSMUSG00000042213
AA Change: Y17N
| 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
AA Change: Y17N
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221239
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222494
AA Change: Y17N
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222819
AA Change: Y17N
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223495
AA Change: Y17N
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
G |
T |
10: 85,224,347 (GRCm39) |
|
probably null |
Het |
| Agtpbp1 |
T |
C |
13: 59,622,403 (GRCm39) |
E941G |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,808 (GRCm39) |
Y1526* |
probably null |
Het |
| Brd1 |
T |
C |
15: 88,572,577 (GRCm39) |
I1165V |
probably benign |
Het |
| Cdan1 |
T |
C |
2: 120,558,393 (GRCm39) |
D473G |
possibly damaging |
Het |
| Clstn3 |
G |
A |
6: 124,436,222 (GRCm39) |
L176F |
probably damaging |
Het |
| Ctif |
T |
C |
18: 75,654,689 (GRCm39) |
N279S |
probably benign |
Het |
| Dpy19l3 |
A |
G |
7: 35,452,097 (GRCm39) |
S16P |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,800,288 (GRCm39) |
C1806S |
probably benign |
Het |
| Fam151b |
T |
C |
13: 92,586,701 (GRCm39) |
Y244C |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,255,787 (GRCm39) |
M750T |
possibly damaging |
Het |
| Gm11564 |
T |
A |
11: 99,705,879 (GRCm39) |
T184S |
unknown |
Het |
| Gnptab |
A |
G |
10: 88,272,233 (GRCm39) |
K958E |
possibly damaging |
Het |
| Hibch |
T |
C |
1: 52,924,310 (GRCm39) |
S162P |
possibly damaging |
Het |
| Itpr1 |
T |
C |
6: 108,500,362 (GRCm39) |
S2651P |
probably benign |
Het |
| LTO1 |
A |
G |
7: 144,470,197 (GRCm39) |
E42G |
probably damaging |
Het |
| Lyrm1 |
A |
G |
7: 119,513,403 (GRCm39) |
D56G |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,256,920 (GRCm39) |
Y528H |
probably damaging |
Het |
| Npas2 |
A |
C |
1: 39,352,109 (GRCm39) |
E186D |
probably damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,166 (GRCm39) |
D293E |
probably benign |
Het |
| Or7c19 |
A |
T |
8: 85,957,258 (GRCm39) |
I45F |
possibly damaging |
Het |
| Or7d11 |
C |
A |
9: 19,966,668 (GRCm39) |
L30F |
probably benign |
Het |
| Pcdhb6 |
T |
A |
18: 37,468,640 (GRCm39) |
Y520* |
probably null |
Het |
| Plekhm1 |
C |
T |
11: 103,268,207 (GRCm39) |
R588H |
probably benign |
Het |
| Psg23 |
A |
T |
7: 18,344,341 (GRCm39) |
H371Q |
probably benign |
Het |
| Ptpn12 |
T |
C |
5: 21,207,610 (GRCm39) |
|
probably benign |
Het |
| Rela |
T |
C |
19: 5,689,909 (GRCm39) |
C120R |
probably damaging |
Het |
| Rps6kc1 |
T |
A |
1: 190,532,008 (GRCm39) |
I665F |
probably damaging |
Het |
| Spg21 |
A |
G |
9: 65,380,990 (GRCm39) |
Q99R |
probably benign |
Het |
| St14 |
A |
G |
9: 31,008,367 (GRCm39) |
|
probably null |
Het |
| Sult1c2 |
A |
T |
17: 54,137,099 (GRCm39) |
N274K |
probably benign |
Het |
| Syk |
T |
C |
13: 52,776,768 (GRCm39) |
V256A |
probably benign |
Het |
| Tcte1 |
A |
G |
17: 45,844,222 (GRCm39) |
D66G |
probably damaging |
Het |
| Tgm4 |
C |
T |
9: 122,885,580 (GRCm39) |
T374M |
probably damaging |
Het |
| Tns4 |
T |
C |
11: 98,959,095 (GRCm39) |
H668R |
probably damaging |
Het |
| Tsn |
C |
T |
1: 118,232,999 (GRCm39) |
A102T |
possibly damaging |
Het |
| Uvssa |
T |
A |
5: 33,549,189 (GRCm39) |
S350T |
possibly damaging |
Het |
| Vmn1r3 |
T |
A |
4: 3,185,214 (GRCm39) |
Y31F |
possibly damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,515,970 (GRCm39) |
|
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,169,276 (GRCm39) |
D618G |
possibly damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,330,373 (GRCm39) |
|
probably benign |
Het |
| Vti1a |
T |
C |
19: 55,380,279 (GRCm39) |
Y143H |
probably damaging |
Het |
| Zfp729a |
T |
C |
13: 67,767,761 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,787,586 (GRCm39) |
T251A |
probably damaging |
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 |
|
IGL03253:Zfand4
|
APN |
6 |
116,261,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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