Incidental Mutation 'IGL03058:Zfand4'
ID |
409331 |
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 # |
IGL03058
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
116241183-116307263 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116265038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 168
(F168L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108521
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036503]
[ENSMUST00000112900]
[ENSMUST00000220845]
[ENSMUST00000221069]
[ENSMUST00000222494]
[ENSMUST00000223495]
[ENSMUST00000222819]
|
AlphaFold |
D3Z3C6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036503
AA Change: F168L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000040057 Gene: ENSMUSG00000042213 AA Change: F168L
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 benign
Transcript: ENSMUST00000112900
AA Change: F168L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000108521 Gene: ENSMUSG00000042213 AA Change: F168L
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
AA Change: F20L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221239
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222144
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222494
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223495
AA Change: F168L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222819
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,109,112 (GRCm39) |
V395A |
probably benign |
Het |
Adck1 |
A |
T |
12: 88,425,900 (GRCm39) |
T443S |
probably benign |
Het |
Axdnd1 |
G |
A |
1: 156,204,233 (GRCm39) |
A541V |
probably benign |
Het |
B020011L13Rik |
A |
G |
1: 117,710,699 (GRCm39) |
D35G |
possibly damaging |
Het |
Bmp3 |
T |
G |
5: 99,019,953 (GRCm39) |
I125M |
probably damaging |
Het |
Cdc40 |
T |
C |
10: 40,725,824 (GRCm39) |
E215G |
probably benign |
Het |
Ces1f |
A |
G |
8: 93,996,600 (GRCm39) |
|
probably null |
Het |
Chd8 |
A |
C |
14: 52,455,730 (GRCm39) |
V986G |
probably damaging |
Het |
Clca4a |
A |
T |
3: 144,667,595 (GRCm39) |
|
probably benign |
Het |
Crhbp |
T |
A |
13: 95,580,306 (GRCm39) |
E91V |
probably damaging |
Het |
Dgkh |
T |
A |
14: 78,865,237 (GRCm39) |
H53L |
probably benign |
Het |
Dnajc1 |
T |
C |
2: 18,222,132 (GRCm39) |
D532G |
possibly damaging |
Het |
Dot1l |
T |
C |
10: 80,626,831 (GRCm39) |
S230P |
probably benign |
Het |
Evi5 |
C |
T |
5: 107,896,017 (GRCm39) |
V809M |
probably damaging |
Het |
Fbn1 |
T |
A |
2: 125,245,120 (GRCm39) |
M256L |
probably benign |
Het |
Fem1al |
T |
C |
11: 29,774,656 (GRCm39) |
D267G |
probably benign |
Het |
Fgfr2 |
C |
T |
7: 129,784,422 (GRCm39) |
D292N |
probably damaging |
Het |
Fmn1 |
C |
T |
2: 113,272,159 (GRCm39) |
|
probably benign |
Het |
Htatsf1 |
T |
A |
X: 56,104,281 (GRCm39) |
D203E |
probably damaging |
Het |
Kcnh1 |
T |
A |
1: 192,117,199 (GRCm39) |
L51Q |
probably damaging |
Het |
Lamp5 |
A |
T |
2: 135,911,047 (GRCm39) |
H260L |
probably benign |
Het |
Mindy4 |
T |
A |
6: 55,285,183 (GRCm39) |
V659D |
probably damaging |
Het |
Mkks |
C |
A |
2: 136,718,090 (GRCm39) |
L397F |
probably damaging |
Het |
Ncan |
G |
A |
8: 70,560,582 (GRCm39) |
S795F |
possibly damaging |
Het |
Or13c7d |
A |
C |
4: 43,770,255 (GRCm39) |
F252C |
probably damaging |
Het |
Or9g4 |
T |
C |
2: 85,505,025 (GRCm39) |
I157V |
probably benign |
Het |
Papolg |
T |
C |
11: 23,845,029 (GRCm39) |
M4V |
probably benign |
Het |
Pdk3 |
A |
T |
X: 92,845,892 (GRCm39) |
I143N |
probably benign |
Het |
Polr2a |
A |
T |
11: 69,635,873 (GRCm39) |
|
probably null |
Het |
Prc1 |
C |
T |
7: 79,950,873 (GRCm39) |
T78I |
probably benign |
Het |
Ret |
C |
A |
6: 118,152,028 (GRCm39) |
D569Y |
probably damaging |
Het |
Samd9l |
G |
T |
6: 3,374,980 (GRCm39) |
N760K |
probably damaging |
Het |
Slc5a12 |
T |
A |
2: 110,471,137 (GRCm39) |
S460T |
probably benign |
Het |
Slco1c1 |
A |
G |
6: 141,508,913 (GRCm39) |
I573M |
probably benign |
Het |
Spata31f1e |
G |
A |
4: 42,793,764 (GRCm39) |
L123F |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,025,664 (GRCm39) |
D75G |
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,736,205 (GRCm39) |
F1749L |
probably damaging |
Het |
Thbs2 |
T |
C |
17: 14,910,231 (GRCm39) |
T123A |
possibly damaging |
Het |
Tmc3 |
T |
C |
7: 83,265,094 (GRCm39) |
S663P |
possibly damaging |
Het |
Vmn2r121 |
G |
T |
X: 123,042,618 (GRCm39) |
H180N |
probably benign |
Het |
Vnn1 |
T |
C |
10: 23,780,442 (GRCm39) |
F477L |
probably benign |
Het |
Xpnpep2 |
A |
G |
X: 47,214,302 (GRCm39) |
|
probably null |
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 |
|
IGL03130:Zfand4
|
APN |
6 |
116,250,620 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |