Incidental Mutation 'PIT4151001:Zranb1'
| ID |
557032 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4151001 (G1)
|
| Quality Score |
216.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
132532905-132588127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 132551723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 125
(S125T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033265]
[ENSMUST00000106157]
[ENSMUST00000124096]
[ENSMUST00000210507]
[ENSMUST00000215716]
|
| AlphaFold |
Q7M760 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033265
AA Change: S125T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033265
Gene: ENSMUSG00000030967
AA Change: S125T
| 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: S125T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101763
Gene: ENSMUSG00000030967
AA Change: S125T
| 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: S125T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215716
AA Change: S151T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 92.7%
- 3x: 90.4%
- 10x: 84.6%
- 20x: 72.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,930,670 (GRCm39) |
L1389P |
probably damaging |
Het |
| Acot10 |
C |
T |
15: 20,666,684 (GRCm39) |
G19D |
probably damaging |
Het |
| Adam20 |
G |
A |
8: 41,248,081 (GRCm39) |
V64I |
possibly damaging |
Het |
| Ak6 |
T |
A |
13: 100,791,603 (GRCm39) |
D15E |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,118,288 (GRCm39) |
Y129H |
probably damaging |
Het |
| Caskin1 |
C |
T |
17: 24,721,193 (GRCm39) |
T511I |
probably damaging |
Het |
| Casp9 |
C |
T |
4: 141,521,259 (GRCm39) |
R32* |
probably null |
Het |
| Ccdc40 |
A |
G |
11: 119,133,277 (GRCm39) |
E445G |
probably damaging |
Het |
| Cct8 |
T |
C |
16: 87,284,545 (GRCm39) |
E273G |
probably damaging |
Het |
| Chd5 |
G |
A |
4: 152,462,986 (GRCm39) |
V1380I |
probably damaging |
Het |
| Coro2b |
C |
T |
9: 62,336,286 (GRCm39) |
G272D |
probably damaging |
Het |
| Cyp4a10 |
C |
A |
4: 115,382,072 (GRCm39) |
H251Q |
probably damaging |
Het |
| Dgki |
A |
T |
6: 37,040,916 (GRCm39) |
H298Q |
probably benign |
Het |
| Dnmt3b |
T |
G |
2: 153,526,399 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
A |
G |
14: 119,160,200 (GRCm39) |
F3L |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,496,198 (GRCm39) |
S807P |
probably benign |
Het |
| Emc10 |
C |
T |
7: 44,142,627 (GRCm39) |
R105H |
|
Het |
| Enthd1 |
T |
C |
15: 80,336,937 (GRCm39) |
E499G |
probably damaging |
Het |
| Eps8l1 |
G |
A |
7: 4,474,414 (GRCm39) |
S295N |
probably benign |
Het |
| Fer1l5 |
T |
A |
1: 36,450,728 (GRCm39) |
M1242K |
probably benign |
Het |
| Gm3415 |
A |
G |
5: 146,493,079 (GRCm39) |
R36G |
probably benign |
Het |
| Gm5797 |
C |
A |
14: 7,330,318 (GRCm38) |
M114I |
possibly damaging |
Het |
| Gmppa |
A |
T |
1: 75,418,468 (GRCm39) |
R284* |
probably null |
Het |
| Homer1 |
G |
C |
13: 93,485,724 (GRCm39) |
K118N |
probably damaging |
Het |
| Ivl |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,608 (GRCm39) |
|
probably benign |
Het |
| Kcnc4 |
G |
A |
3: 107,366,019 (GRCm39) |
A63V |
probably damaging |
Het |
| Kif11 |
T |
A |
19: 37,373,045 (GRCm39) |
I88N |
probably damaging |
Het |
| Krba1 |
T |
C |
6: 48,379,831 (GRCm39) |
F9S |
probably damaging |
Het |
| Nckap1 |
A |
G |
2: 80,350,714 (GRCm39) |
|
probably null |
Het |
| Nox4 |
A |
T |
7: 86,954,097 (GRCm39) |
Y134F |
probably benign |
Het |
| Or4a79 |
T |
A |
2: 89,552,237 (GRCm39) |
T73S |
probably benign |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,431,465 (GRCm39) |
S261P |
probably benign |
Het |
| Or52e15 |
A |
G |
7: 104,645,424 (GRCm39) |
L229P |
probably damaging |
Het |
| Or5m13b |
T |
A |
2: 85,754,386 (GRCm39) |
M258K |
probably damaging |
Het |
| Or5m8 |
T |
C |
2: 85,822,538 (GRCm39) |
C126R |
probably damaging |
Het |
| Or8k22 |
G |
T |
2: 86,163,173 (GRCm39) |
H176N |
possibly damaging |
Het |
| Pcdh17 |
G |
T |
14: 84,684,798 (GRCm39) |
V422L |
probably benign |
Het |
| Pcx |
T |
A |
19: 4,653,157 (GRCm39) |
V275E |
probably damaging |
Het |
| Pde6h |
A |
T |
6: 136,938,185 (GRCm39) |
M53L |
possibly damaging |
Het |
| Phactr3 |
A |
T |
2: 177,975,861 (GRCm39) |
E535D |
probably damaging |
Het |
| Pkn3 |
C |
A |
2: 29,980,539 (GRCm39) |
T810N |
probably damaging |
Het |
| Pnpla5 |
T |
C |
15: 84,002,827 (GRCm39) |
E252G |
probably damaging |
Het |
| Pramel21 |
T |
A |
4: 143,342,722 (GRCm39) |
C276* |
probably null |
Het |
| Psg17 |
A |
G |
7: 18,548,530 (GRCm39) |
S414P |
probably benign |
Het |
| Pzp |
T |
A |
6: 128,502,259 (GRCm39) |
Q30L |
probably benign |
Het |
| Reln |
A |
T |
5: 22,491,894 (GRCm39) |
F113I |
possibly damaging |
Het |
| Ret |
T |
C |
6: 118,141,702 (GRCm39) |
D975G |
probably benign |
Het |
| Sarnp |
A |
G |
10: 128,713,235 (GRCm39) |
I209V |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 41,879,918 (GRCm39) |
V2210D |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,533,237 (GRCm39) |
Q3165* |
probably null |
Het |
| Tmem64 |
A |
T |
4: 15,283,159 (GRCm39) |
I319F |
probably damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,808 (GRCm39) |
V115D |
probably damaging |
Het |
| Vmn1r2 |
A |
G |
4: 3,172,623 (GRCm39) |
T181A |
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,334 (GRCm39) |
E749G |
possibly damaging |
Het |
| Vps35 |
G |
A |
8: 86,010,677 (GRCm39) |
T222I |
possibly damaging |
Het |
| Zfp532 |
A |
G |
18: 65,757,485 (GRCm39) |
T473A |
probably damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,657,712 (GRCm39) |
V733A |
probably 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGATCCTTCCAGTACTGAAGG -3'
(R):5'- TGCCAACTCTATTGCTTCAATG -3'
Sequencing Primer
(F):5'- TCCTTCCAGTACTGAAGGTGGAAG -3'
(R):5'- AATGTTATTAGGTCTGGGATGGTCAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation