Incidental Mutation 'IGL03081:Zranb1'
| ID |
417876 |
| 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 # |
IGL03081
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
132532905-132588127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 132552126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 259
(M259K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101763
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033265]
[ENSMUST00000106157]
[ENSMUST00000124096]
[ENSMUST00000210507]
[ENSMUST00000215716]
|
| AlphaFold |
Q7M760 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033265
AA Change: M259K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000033265
Gene: ENSMUSG00000030967
AA Change: M259K
| 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 damaging
Transcript: ENSMUST00000106157
AA Change: M259K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101763
Gene: ENSMUSG00000030967
AA Change: M259K
| 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: M259K
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215716
AA Change: M285K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
C |
A |
19: 43,770,841 (GRCm39) |
|
probably benign |
Het |
| Acan |
T |
G |
7: 78,748,291 (GRCm39) |
S1021A |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,581,464 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,086 (GRCm39) |
K1018E |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,165,881 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
T |
C |
10: 98,830,675 (GRCm39) |
|
probably benign |
Het |
| Cct6b |
A |
T |
11: 82,654,995 (GRCm39) |
L20* |
probably null |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,368 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
T |
G |
18: 34,769,757 (GRCm39) |
K454T |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,868,982 (GRCm39) |
I158F |
probably damaging |
Het |
| Cdk14 |
C |
T |
5: 4,999,527 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Clec2i |
A |
T |
6: 128,871,728 (GRCm39) |
Y113F |
probably damaging |
Het |
| Dmpk |
T |
A |
7: 18,821,458 (GRCm39) |
S239T |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,905,347 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
G |
13: 31,084,885 (GRCm39) |
Y359H |
probably benign |
Het |
| Eya1 |
A |
T |
1: 14,253,415 (GRCm39) |
F520L |
possibly damaging |
Het |
| Fgfr1op2 |
A |
T |
6: 146,498,817 (GRCm39) |
I217F |
probably damaging |
Het |
| Gm12258 |
A |
G |
11: 58,749,085 (GRCm39) |
N87D |
probably benign |
Het |
| Gp6 |
A |
G |
7: 4,374,647 (GRCm39) |
S225P |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,696,187 (GRCm39) |
Y619C |
probably damaging |
Het |
| Lars1 |
A |
G |
18: 42,343,156 (GRCm39) |
I1087T |
probably benign |
Het |
| Lrrc37a |
G |
T |
11: 103,347,421 (GRCm39) |
H3091Q |
unknown |
Het |
| Mcm3ap |
T |
C |
10: 76,306,150 (GRCm39) |
S88P |
possibly damaging |
Het |
| Mrps23 |
G |
A |
11: 88,101,043 (GRCm39) |
R117Q |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,987,339 (GRCm39) |
S384G |
probably damaging |
Het |
| Ndufs4 |
A |
T |
13: 114,444,373 (GRCm39) |
I135N |
possibly damaging |
Het |
| Noto |
T |
C |
6: 85,401,091 (GRCm39) |
F40S |
probably damaging |
Het |
| Nr5a1 |
A |
T |
2: 38,600,544 (GRCm39) |
V41D |
possibly damaging |
Het |
| Or8b50 |
C |
T |
9: 38,518,166 (GRCm39) |
A135V |
probably benign |
Het |
| Papola |
T |
A |
12: 105,785,114 (GRCm39) |
H415Q |
probably damaging |
Het |
| Pcm1 |
C |
T |
8: 41,728,097 (GRCm39) |
T557I |
probably damaging |
Het |
| Pde11a |
A |
T |
2: 75,906,274 (GRCm39) |
|
probably benign |
Het |
| Pls1 |
A |
G |
9: 95,655,696 (GRCm39) |
V352A |
probably damaging |
Het |
| Pygm |
T |
C |
19: 6,438,851 (GRCm39) |
S226P |
possibly damaging |
Het |
| Rnf17 |
T |
A |
14: 56,671,828 (GRCm39) |
S273R |
probably benign |
Het |
| Scamp2 |
T |
C |
9: 57,494,410 (GRCm39) |
V261A |
possibly damaging |
Het |
| Slc7a12 |
T |
A |
3: 14,546,315 (GRCm39) |
F153L |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,667,186 (GRCm39) |
D1735E |
probably damaging |
Het |
| Stk40 |
A |
G |
4: 126,017,507 (GRCm39) |
|
probably null |
Het |
| Tas2r124 |
C |
T |
6: 132,732,497 (GRCm39) |
L269F |
possibly damaging |
Het |
| Tmem260 |
A |
C |
14: 48,733,750 (GRCm39) |
I216L |
probably benign |
Het |
| Ubr1 |
C |
A |
2: 120,791,637 (GRCm39) |
A116S |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,102,193 (GRCm39) |
K991R |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,657,138 (GRCm39) |
Y89C |
probably benign |
Het |
| Vps13b |
A |
C |
15: 35,875,966 (GRCm39) |
I2784L |
probably damaging |
Het |
| Zbtb26 |
T |
A |
2: 37,326,612 (GRCm39) |
K141N |
possibly damaging |
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 |
|
|
IGL00843:Zranb1
|
APN |
7 |
132,551,622 (GRCm39) |
missense |
probably benign |
0.26 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation