Incidental Mutation 'R6928:Zranb1'
| ID |
539838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zranb1
|
| Ensembl Gene |
ENSMUSG00000030967 |
| Gene Name |
zinc finger, RAN-binding domain containing 1 |
| Synonyms |
9330160G10Rik, D7Wsu87e |
| MMRRC Submission |
045045-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R6928 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
132532905-132588127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 132568323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 301
(R301H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033265]
[ENSMUST00000106157]
[ENSMUST00000124096]
[ENSMUST00000210507]
[ENSMUST00000215716]
|
| AlphaFold |
Q7M760 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033265
AA Change: R301H
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000033265
Gene: ENSMUSG00000030967
AA Change: R301H
| 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: R301H
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101763
Gene: ENSMUSG00000030967
AA Change: R301H
| 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 |
possibly damaging
Transcript: ENSMUST00000210507
AA Change: R301H
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215716
AA Change: R327H
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.5%
|
| Validation Efficiency |
98% (62/63) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1r1 |
A |
G |
6: 55,456,257 (GRCm39) |
D215G |
possibly damaging |
Het |
| Asb3 |
A |
T |
11: 30,948,326 (GRCm39) |
M40L |
probably damaging |
Het |
| Aspg |
G |
A |
12: 112,093,123 (GRCm39) |
V547M |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,407,944 (GRCm39) |
L2277* |
probably null |
Het |
| Atp7b |
A |
G |
8: 22,484,828 (GRCm39) |
S1295P |
probably benign |
Het |
| Cdca2 |
A |
G |
14: 67,943,193 (GRCm39) |
S199P |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,387,642 (GRCm39) |
E514G |
possibly damaging |
Het |
| Cenpk |
G |
T |
13: 104,365,500 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
C |
A |
9: 105,817,118 (GRCm39) |
V398L |
unknown |
Het |
| Colec10 |
A |
T |
15: 54,326,002 (GRCm39) |
K277N |
probably damaging |
Het |
| Cryzl2 |
T |
G |
1: 157,298,357 (GRCm39) |
S249A |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,805,164 (GRCm39) |
Y1992N |
possibly damaging |
Het |
| Drd3 |
G |
T |
16: 43,641,683 (GRCm39) |
R333L |
probably benign |
Het |
| Espl1 |
C |
T |
15: 102,207,342 (GRCm39) |
R269C |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,212,252 (GRCm39) |
C188Y |
probably damaging |
Het |
| Focad |
A |
G |
4: 88,267,112 (GRCm39) |
D1041G |
unknown |
Het |
| Frem3 |
T |
C |
8: 81,337,911 (GRCm39) |
F68S |
possibly damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,634 (GRCm39) |
V212A |
probably damaging |
Het |
| Gzmb |
T |
C |
14: 56,497,734 (GRCm39) |
K169E |
probably benign |
Het |
| Hexd |
T |
A |
11: 121,102,880 (GRCm39) |
F33I |
possibly damaging |
Het |
| Hsd3b6 |
T |
C |
3: 98,718,269 (GRCm39) |
I32V |
probably benign |
Het |
| Jcad |
T |
C |
18: 4,673,372 (GRCm39) |
V378A |
probably benign |
Het |
| Kcnmb2 |
T |
C |
3: 32,253,190 (GRCm39) |
S177P |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 103,050,800 (GRCm39) |
S651T |
possibly damaging |
Het |
| Map3k2 |
T |
C |
18: 32,340,593 (GRCm39) |
|
probably null |
Het |
| Mib1 |
T |
G |
18: 10,802,282 (GRCm39) |
S870A |
probably benign |
Het |
| Moap1 |
T |
A |
12: 102,708,871 (GRCm39) |
N226I |
probably damaging |
Het |
| Moxd1 |
T |
A |
10: 24,176,186 (GRCm39) |
N547K |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,781,042 (GRCm39) |
V16A |
probably benign |
Het |
| Nme1 |
T |
C |
11: 93,850,229 (GRCm39) |
Y151C |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,408,653 (GRCm39) |
F879L |
probably benign |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or52ac1 |
A |
T |
7: 104,245,796 (GRCm39) |
Y197* |
probably null |
Het |
| Or5ac25 |
C |
A |
16: 59,181,826 (GRCm39) |
G252C |
probably damaging |
Het |
| Or5b102 |
A |
T |
19: 13,041,348 (GRCm39) |
H191L |
probably benign |
Het |
| Or5b99 |
A |
G |
19: 12,977,202 (GRCm39) |
N284S |
probably damaging |
Het |
| Or8d23 |
T |
C |
9: 38,841,862 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,928 (GRCm39) |
M268V |
probably benign |
Het |
| Pcdhb21 |
A |
G |
18: 37,647,474 (GRCm39) |
E201G |
probably damaging |
Het |
| Plscr1 |
T |
C |
9: 92,152,004 (GRCm39) |
V301A |
possibly damaging |
Het |
| Psg28 |
A |
T |
7: 18,157,003 (GRCm39) |
S411T |
possibly damaging |
Het |
| Rif1 |
T |
C |
2: 51,985,973 (GRCm39) |
W653R |
probably damaging |
Het |
| Rnd3 |
T |
A |
2: 51,022,518 (GRCm39) |
I175L |
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,656,791 (GRCm39) |
E199G |
possibly damaging |
Het |
| Sgpp1 |
T |
C |
12: 75,763,344 (GRCm39) |
Y279C |
probably damaging |
Het |
| Slc2a13 |
A |
G |
15: 91,160,382 (GRCm39) |
I524T |
probably damaging |
Het |
| Speer4a2 |
A |
G |
5: 26,290,586 (GRCm39) |
|
probably null |
Het |
| Spg11 |
C |
T |
2: 121,900,385 (GRCm39) |
V1556I |
probably benign |
Het |
| Spopfm1 |
T |
A |
3: 94,173,855 (GRCm39) |
C288S |
probably benign |
Het |
| Srebf2 |
C |
T |
15: 82,087,924 (GRCm39) |
R215* |
probably null |
Het |
| Tdpoz8 |
G |
A |
3: 92,981,267 (GRCm39) |
C95Y |
probably damaging |
Het |
| Tmem19 |
T |
C |
10: 115,183,179 (GRCm39) |
N147S |
possibly damaging |
Het |
| Tpr |
T |
C |
1: 150,284,536 (GRCm39) |
S408P |
possibly damaging |
Het |
| Trav13d-4 |
C |
T |
14: 53,310,618 (GRCm39) |
T53I |
probably damaging |
Het |
| Trf |
T |
A |
9: 103,099,307 (GRCm39) |
R168W |
possibly damaging |
Het |
| Trim11 |
A |
G |
11: 58,879,669 (GRCm39) |
K273R |
probably damaging |
Het |
| Tsacc |
T |
A |
3: 88,190,247 (GRCm39) |
M68L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,584,869 (GRCm39) |
M22110L |
probably benign |
Het |
| Zfp160 |
G |
T |
17: 21,261,724 (GRCm39) |
G104V |
probably benign |
Het |
| Zfp582 |
T |
C |
7: 6,357,266 (GRCm39) |
Y360H |
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 |
|
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 |
|
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'- ATGTAAATGATATCCCAGGATCCAG -3'
(R):5'- CTTCATATAAGAACATTAAAGCTGGTG -3'
Sequencing Primer
(F):5'- TATCCCAGGATCCAGGAAGG -3'
(R):5'- TGGTGACAGTTCAGTGGTAAAAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation