Incidental Mutation 'R9417:Zranb1'
ID |
712111 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zranb1
|
Ensembl Gene |
ENSMUSG00000030967 |
Gene Name |
zinc finger, RAN-binding domain containing 1 |
Synonyms |
9330160G10Rik, D7Wsu87e |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.915)
|
Stock # |
R9417 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
132532905-132588127 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 132585466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 638
(G638D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033265
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033265]
[ENSMUST00000033269]
[ENSMUST00000106157]
[ENSMUST00000124096]
[ENSMUST00000165457]
[ENSMUST00000166439]
[ENSMUST00000169570]
[ENSMUST00000210507]
[ENSMUST00000215716]
|
AlphaFold |
Q7M760 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033265
AA Change: G638D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033265 Gene: ENSMUSG00000030967 AA Change: G638D
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: ENSMUST00000033269
|
SMART Domains |
Protein: ENSMUSP00000033269 Gene: ENSMUSG00000030970
Domain | Start | End | E-Value | Type |
Pfam:2-Hacid_dh
|
36 |
358 |
2.9e-31 |
PFAM |
Pfam:2-Hacid_dh_C
|
139 |
323 |
1.7e-57 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106157
AA Change: G638D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101763 Gene: ENSMUSG00000030967 AA Change: G638D
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: ENSMUST00000165457
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166439
|
SMART Domains |
Protein: ENSMUSP00000127448 Gene: ENSMUSG00000030970
Domain | Start | End | E-Value | Type |
Pfam:2-Hacid_dh
|
11 |
333 |
2.4e-31 |
PFAM |
Pfam:2-Hacid_dh_C
|
114 |
298 |
1.5e-57 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169570
|
SMART Domains |
Protein: ENSMUSP00000130294 Gene: ENSMUSG00000030970
Domain | Start | End | E-Value | Type |
Pfam:2-Hacid_dh
|
579 |
901 |
2.8e-31 |
PFAM |
Pfam:2-Hacid_dh_C
|
682 |
866 |
5.6e-57 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210507
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215716
AA Change: G664D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930553M12Rik |
A |
G |
4: 88,786,202 (GRCm39) |
Y139H |
unknown |
Het |
Akr1b10 |
T |
C |
6: 34,371,027 (GRCm39) |
V259A |
probably benign |
Het |
Aldh5a1 |
A |
T |
13: 25,095,673 (GRCm39) |
N481K |
probably damaging |
Het |
Ankrd26 |
A |
T |
6: 118,504,725 (GRCm39) |
M728K |
possibly damaging |
Het |
Asic1 |
A |
G |
15: 99,590,405 (GRCm39) |
M52V |
probably benign |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Cacna2d2 |
C |
A |
9: 107,392,689 (GRCm39) |
Y544* |
probably null |
Het |
Cdcp3 |
A |
G |
7: 130,852,218 (GRCm39) |
D818G |
possibly damaging |
Het |
Chd4 |
A |
G |
6: 125,097,688 (GRCm39) |
N1403S |
probably damaging |
Het |
Cldn4 |
G |
T |
5: 134,975,174 (GRCm39) |
N142K |
probably benign |
Het |
Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
Dll1 |
T |
C |
17: 15,593,710 (GRCm39) |
Y219C |
probably damaging |
Het |
Dnah2 |
T |
A |
11: 69,326,990 (GRCm39) |
I3539F |
probably damaging |
Het |
Egfr |
T |
A |
11: 16,825,067 (GRCm39) |
L469* |
probably null |
Het |
Elmo1 |
A |
G |
13: 20,756,573 (GRCm39) |
N554D |
possibly damaging |
Het |
Fam234a |
A |
C |
17: 26,435,225 (GRCm39) |
F306L |
probably benign |
Het |
Fbl |
G |
A |
7: 27,874,052 (GRCm39) |
G45D |
unknown |
Het |
Fbxw10 |
C |
A |
11: 62,753,522 (GRCm39) |
C505* |
probably null |
Het |
Ftcd |
G |
A |
10: 76,417,153 (GRCm39) |
G221S |
probably damaging |
Het |
Gad1 |
A |
G |
2: 70,417,716 (GRCm39) |
D305G |
possibly damaging |
Het |
Gdpd4 |
A |
G |
7: 97,607,074 (GRCm39) |
D16G |
probably benign |
Het |
Gsdmc3 |
T |
A |
15: 63,738,663 (GRCm39) |
D133V |
possibly damaging |
Het |
Hpdl |
T |
C |
4: 116,677,817 (GRCm39) |
T215A |
possibly damaging |
Het |
Ift56 |
T |
C |
6: 38,386,386 (GRCm39) |
F369S |
probably damaging |
Het |
Igsf10 |
A |
T |
3: 59,236,526 (GRCm39) |
N1218K |
possibly damaging |
Het |
Isg20 |
C |
T |
7: 78,569,605 (GRCm39) |
P192L |
probably benign |
Het |
Itga7 |
C |
T |
10: 128,793,543 (GRCm39) |
T126M |
unknown |
Het |
Krr1 |
A |
G |
10: 111,813,026 (GRCm39) |
I134V |
probably benign |
Het |
Krt71 |
T |
A |
15: 101,646,731 (GRCm39) |
T326S |
probably benign |
Het |
Lamb1 |
T |
A |
12: 31,337,983 (GRCm39) |
V480E |
probably damaging |
Het |
Mmp19 |
T |
A |
10: 128,630,523 (GRCm39) |
L102Q |
possibly damaging |
Het |
Mtor |
T |
A |
4: 148,622,776 (GRCm39) |
L1952* |
probably null |
Het |
Myo15a |
T |
A |
11: 60,378,243 (GRCm39) |
V215E |
|
Het |
Nfs1 |
T |
A |
2: 155,965,851 (GRCm39) |
K77* |
probably null |
Het |
Or52s1 |
A |
T |
7: 102,861,156 (GRCm39) |
I30F |
possibly damaging |
Het |
Or9a4 |
T |
A |
6: 40,549,096 (GRCm39) |
Y259N |
|
Het |
Pcdhga4 |
T |
C |
18: 37,820,560 (GRCm39) |
F703S |
probably damaging |
Het |
Pdzd7 |
A |
G |
19: 45,034,022 (GRCm39) |
S21P |
probably damaging |
Het |
Pitrm1 |
A |
T |
13: 6,617,394 (GRCm39) |
I583F |
possibly damaging |
Het |
Ppox |
A |
G |
1: 171,107,855 (GRCm39) |
L77P |
unknown |
Het |
Ppp1r37 |
G |
T |
7: 19,269,658 (GRCm39) |
R114S |
probably damaging |
Het |
Ppp4r3b |
T |
C |
11: 29,144,598 (GRCm39) |
V316A |
probably benign |
Het |
Ptprd |
A |
G |
4: 75,865,335 (GRCm39) |
I1214T |
probably damaging |
Het |
Rasal3 |
A |
G |
17: 32,615,441 (GRCm39) |
F466L |
probably benign |
Het |
Ric8b |
A |
T |
10: 84,761,447 (GRCm39) |
D41V |
probably benign |
Het |
Rin2 |
T |
C |
2: 145,686,713 (GRCm39) |
S81P |
probably benign |
Het |
Sft2d1 |
T |
A |
17: 8,542,139 (GRCm39) |
C128S |
probably damaging |
Het |
Skint1 |
T |
C |
4: 111,878,509 (GRCm39) |
V147A |
probably benign |
Het |
Slc9c1 |
T |
C |
16: 45,413,848 (GRCm39) |
V992A |
probably benign |
Het |
Sst |
A |
G |
16: 23,708,487 (GRCm39) |
S115P |
probably damaging |
Het |
Sv2b |
G |
T |
7: 74,769,772 (GRCm39) |
S590Y |
probably damaging |
Het |
Syne1 |
C |
T |
10: 5,082,021 (GRCm39) |
V868I |
probably benign |
Het |
Tex35 |
T |
C |
1: 156,934,789 (GRCm39) |
I42V |
possibly damaging |
Het |
Tlr2 |
T |
C |
3: 83,744,892 (GRCm39) |
N397S |
probably damaging |
Het |
Tmem202 |
A |
G |
9: 59,431,999 (GRCm39) |
|
probably null |
Het |
Usp20 |
A |
G |
2: 30,873,030 (GRCm39) |
|
probably null |
Het |
Usp32 |
C |
T |
11: 84,885,369 (GRCm39) |
R1226Q |
probably damaging |
Het |
Usp47 |
C |
T |
7: 111,688,801 (GRCm39) |
A736V |
possibly damaging |
Het |
Vmn2r-ps117 |
T |
A |
17: 19,044,037 (GRCm39) |
L371* |
probably null |
Het |
Wwp1 |
T |
A |
4: 19,662,215 (GRCm39) |
N127Y |
possibly damaging |
Het |
Yae1d1 |
A |
T |
13: 18,167,770 (GRCm39) |
V41D |
probably damaging |
Het |
Zbtb8b |
T |
C |
4: 129,326,517 (GRCm39) |
D216G |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,016,988 (GRCm39) |
S903P |
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 |
|
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 |
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 |
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'- ACGTCTGAAGCTGAGACCTTTC -3'
(R):5'- TACAAGGCCGGATCTGTCTG -3'
Sequencing Primer
(F):5'- CTTAGACCCTTTTGTGAAGAAGGC -3'
(R):5'- ATCTGTCTGTAGCGGTCAAGCC -3'
|
Posted On |
2022-05-16 |