Incidental Mutation 'IGL00843:Zranb1'
ID |
15052 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zranb1
|
Ensembl Gene |
ENSMUSG00000030967 |
Gene Name |
zinc finger, RAN-binding domain containing 1 |
Synonyms |
9330160G10Rik, D7Wsu87e |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.915)
|
Stock # |
IGL00843
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
132532905-132588127 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 132551622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Proline
at position 117
(H117P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148867
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033265]
[ENSMUST00000106157]
[ENSMUST00000124096]
[ENSMUST00000210507]
[ENSMUST00000215716]
|
AlphaFold |
Q7M760 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033265
AA Change: H91P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000033265 Gene: ENSMUSG00000030967 AA Change: H91P
Domain | Start | End | E-Value | Type |
ZnF_RBZ
|
6 |
30 |
9.14e-5 |
SMART |
ZnF_RBZ
|
86 |
110 |
6.56e-6 |
SMART |
ZnF_RBZ
|
151 |
175 |
1.69e-8 |
SMART |
low complexity region
|
180 |
195 |
N/A |
INTRINSIC |
Pfam:OTU
|
438 |
586 |
9.8e-35 |
PFAM |
low complexity region
|
698 |
708 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106157
AA Change: H91P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101763 Gene: ENSMUSG00000030967 AA Change: H91P
Domain | Start | End | E-Value | Type |
ZnF_RBZ
|
6 |
30 |
9.14e-5 |
SMART |
ZnF_RBZ
|
86 |
110 |
6.56e-6 |
SMART |
ZnF_RBZ
|
151 |
175 |
1.69e-8 |
SMART |
low complexity region
|
180 |
195 |
N/A |
INTRINSIC |
Pfam:OTU
|
438 |
586 |
1.5e-40 |
PFAM |
low complexity region
|
698 |
708 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
SMART Domains |
Protein: ENSMUSP00000130971 Gene: ENSMUSG00000030849
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210507
AA Change: H91P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215716
AA Change: H117P
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased CD4+ T cells and decreased susceptibility to experimental autoimmune encephalomyelitis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bglap |
A |
G |
3: 88,291,657 (GRCm39) |
|
probably null |
Het |
Bpnt2 |
T |
C |
4: 4,776,308 (GRCm39) |
|
probably benign |
Het |
Clcn2 |
T |
C |
16: 20,522,391 (GRCm39) |
T772A |
probably benign |
Het |
Cldn18 |
A |
T |
9: 99,580,874 (GRCm39) |
F125I |
probably benign |
Het |
Ehhadh |
A |
G |
16: 21,581,379 (GRCm39) |
S538P |
possibly damaging |
Het |
Ets2 |
T |
G |
16: 95,510,837 (GRCm39) |
F32V |
probably benign |
Het |
F5 |
G |
A |
1: 164,039,360 (GRCm39) |
R1990Q |
probably benign |
Het |
Fetub |
A |
G |
16: 22,748,379 (GRCm39) |
|
probably benign |
Het |
Hecw1 |
C |
T |
13: 14,422,158 (GRCm39) |
E983K |
probably benign |
Het |
Hemgn |
A |
G |
4: 46,396,240 (GRCm39) |
M332T |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,486,464 (GRCm39) |
I4314T |
possibly damaging |
Het |
Lonrf2 |
C |
A |
1: 38,851,616 (GRCm39) |
|
probably benign |
Het |
Lrrc9 |
T |
C |
12: 72,510,191 (GRCm39) |
I430T |
possibly damaging |
Het |
Lrrk2 |
T |
C |
15: 91,641,261 (GRCm39) |
V1606A |
possibly damaging |
Het |
Oog2 |
G |
T |
4: 143,921,742 (GRCm39) |
L217F |
probably damaging |
Het |
Plxnc1 |
T |
C |
10: 94,683,411 (GRCm39) |
H791R |
probably benign |
Het |
Prdm2 |
G |
A |
4: 142,860,884 (GRCm39) |
S802L |
probably damaging |
Het |
Prss32 |
T |
A |
17: 24,076,336 (GRCm39) |
L233Q |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,582,099 (GRCm39) |
V1337E |
probably benign |
Het |
Slc15a3 |
T |
A |
19: 10,830,627 (GRCm39) |
M326K |
probably null |
Het |
Slc25a54 |
A |
T |
3: 109,020,176 (GRCm39) |
T397S |
possibly damaging |
Het |
Slfn3 |
C |
T |
11: 83,104,257 (GRCm39) |
T376M |
probably damaging |
Het |
Stradb |
T |
A |
1: 59,033,568 (GRCm39) |
D410E |
probably benign |
Het |
Tdh |
T |
C |
14: 63,733,213 (GRCm39) |
T178A |
probably damaging |
Het |
Tspan12 |
T |
A |
6: 21,851,081 (GRCm39) |
|
probably benign |
Het |
Ube2b |
A |
T |
11: 51,886,202 (GRCm39) |
D50E |
probably benign |
Het |
|
Other mutations in Zranb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00499:Zranb1
|
APN |
7 |
132,584,233 (GRCm39) |
splice site |
probably benign |
|
IGL01727:Zranb1
|
APN |
7 |
132,568,349 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02087:Zranb1
|
APN |
7 |
132,575,146 (GRCm39) |
splice site |
probably benign |
|
IGL02676:Zranb1
|
APN |
7 |
132,568,410 (GRCm39) |
missense |
probably benign |
0.16 |
IGL03081:Zranb1
|
APN |
7 |
132,552,126 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03095:Zranb1
|
APN |
7 |
132,551,635 (GRCm39) |
nonsense |
probably null |
|
IGL03186:Zranb1
|
APN |
7 |
132,551,932 (GRCm39) |
missense |
possibly damaging |
0.68 |
PIT4151001:Zranb1
|
UTSW |
7 |
132,551,723 (GRCm39) |
missense |
probably benign |
|
R0207:Zranb1
|
UTSW |
7 |
132,552,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R0470:Zranb1
|
UTSW |
7 |
132,584,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R0854:Zranb1
|
UTSW |
7 |
132,551,577 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1318:Zranb1
|
UTSW |
7 |
132,568,281 (GRCm39) |
nonsense |
probably null |
|
R1389:Zranb1
|
UTSW |
7 |
132,573,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R1480:Zranb1
|
UTSW |
7 |
132,551,745 (GRCm39) |
missense |
probably benign |
0.39 |
R1656:Zranb1
|
UTSW |
7 |
132,551,496 (GRCm39) |
missense |
probably benign |
0.31 |
R1956:Zranb1
|
UTSW |
7 |
132,584,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R1958:Zranb1
|
UTSW |
7 |
132,584,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R2010:Zranb1
|
UTSW |
7 |
132,568,425 (GRCm39) |
critical splice donor site |
probably null |
|
R2289:Zranb1
|
UTSW |
7 |
132,551,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R3831:Zranb1
|
UTSW |
7 |
132,584,505 (GRCm39) |
missense |
probably damaging |
0.98 |
R4128:Zranb1
|
UTSW |
7 |
132,568,281 (GRCm39) |
nonsense |
probably null |
|
R4745:Zranb1
|
UTSW |
7 |
132,574,443 (GRCm39) |
missense |
probably damaging |
0.97 |
R5121:Zranb1
|
UTSW |
7 |
132,551,916 (GRCm39) |
missense |
probably benign |
0.06 |
R5262:Zranb1
|
UTSW |
7 |
132,584,556 (GRCm39) |
small insertion |
probably benign |
|
R5263:Zranb1
|
UTSW |
7 |
132,584,556 (GRCm39) |
small insertion |
probably benign |
|
R5264:Zranb1
|
UTSW |
7 |
132,584,556 (GRCm39) |
small insertion |
probably benign |
|
R5522:Zranb1
|
UTSW |
7 |
132,585,678 (GRCm39) |
makesense |
probably null |
|
R6252:Zranb1
|
UTSW |
7 |
132,585,633 (GRCm39) |
missense |
probably benign |
0.00 |
R6519:Zranb1
|
UTSW |
7 |
132,551,857 (GRCm39) |
nonsense |
probably null |
|
R6671:Zranb1
|
UTSW |
7 |
132,573,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R6827:Zranb1
|
UTSW |
7 |
132,551,474 (GRCm39) |
missense |
probably benign |
0.17 |
R6928:Zranb1
|
UTSW |
7 |
132,568,323 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7313:Zranb1
|
UTSW |
7 |
132,584,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R7583:Zranb1
|
UTSW |
7 |
132,585,625 (GRCm39) |
missense |
probably benign |
0.00 |
R8181:Zranb1
|
UTSW |
7 |
132,585,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R8236:Zranb1
|
UTSW |
7 |
132,551,393 (GRCm39) |
missense |
probably damaging |
0.99 |
R8463:Zranb1
|
UTSW |
7 |
132,551,810 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9006:Zranb1
|
UTSW |
7 |
132,572,909 (GRCm39) |
splice site |
probably benign |
|
R9103:Zranb1
|
UTSW |
7 |
132,584,167 (GRCm39) |
missense |
probably damaging |
0.96 |
R9134:Zranb1
|
UTSW |
7 |
132,551,886 (GRCm39) |
missense |
probably benign |
0.00 |
R9229:Zranb1
|
UTSW |
7 |
132,583,117 (GRCm39) |
missense |
probably damaging |
0.98 |
R9244:Zranb1
|
UTSW |
7 |
132,585,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R9417:Zranb1
|
UTSW |
7 |
132,585,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R9596:Zranb1
|
UTSW |
7 |
132,552,146 (GRCm39) |
missense |
probably benign |
0.32 |
R9708:Zranb1
|
UTSW |
7 |
132,584,600 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2012-12-06 |