Incidental Mutation 'R6519:Zranb1'
ID |
521001 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zranb1
|
Ensembl Gene |
ENSMUSG00000030967 |
Gene Name |
zinc finger, RAN-binding domain containing 1 |
Synonyms |
9330160G10Rik, D7Wsu87e |
MMRRC Submission |
044646-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.915)
|
Stock # |
R6519 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
132532905-132588127 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 132551857 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 195
(C195*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148867
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033265]
[ENSMUST00000106157]
[ENSMUST00000124096]
[ENSMUST00000210507]
[ENSMUST00000215716]
|
AlphaFold |
Q7M760 |
Predicted Effect |
probably null
Transcript: ENSMUST00000033265
AA Change: C169*
|
SMART Domains |
Protein: ENSMUSP00000033265 Gene: ENSMUSG00000030967 AA Change: C169*
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 null
Transcript: ENSMUST00000106157
AA Change: C169*
|
SMART Domains |
Protein: ENSMUSP00000101763 Gene: ENSMUSG00000030967 AA Change: C169*
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 null
Transcript: ENSMUST00000210507
AA Change: C169*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000215716
AA Change: C195*
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.7%
|
Validation Efficiency |
97% (58/60) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
T |
C |
9: 99,495,723 (GRCm39) |
I53T |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,715,462 (GRCm39) |
D909N |
probably benign |
Het |
Ahdc1 |
T |
C |
4: 132,792,079 (GRCm39) |
Y1107H |
possibly damaging |
Het |
Aldob |
A |
T |
4: 49,543,835 (GRCm39) |
V49E |
probably damaging |
Het |
Apol6 |
T |
A |
15: 76,935,476 (GRCm39) |
Y248* |
probably null |
Het |
Apol7b |
T |
A |
15: 77,307,548 (GRCm39) |
T316S |
probably benign |
Het |
Atp13a2 |
G |
C |
4: 140,728,165 (GRCm39) |
R503P |
possibly damaging |
Het |
Brca2 |
A |
C |
5: 150,464,444 (GRCm39) |
T1403P |
probably damaging |
Het |
Cblc |
T |
C |
7: 19,526,788 (GRCm39) |
Y148C |
probably damaging |
Het |
Cct7 |
C |
A |
6: 85,439,132 (GRCm39) |
Q149K |
probably benign |
Het |
Cd53 |
T |
A |
3: 106,669,461 (GRCm39) |
H179L |
probably benign |
Het |
Cyp2b19 |
A |
G |
7: 26,458,536 (GRCm39) |
T84A |
probably benign |
Het |
Cyp3a41a |
A |
G |
5: 145,652,308 (GRCm39) |
C64R |
probably damaging |
Het |
Dclre1c |
T |
C |
2: 3,430,366 (GRCm39) |
Y75H |
probably damaging |
Het |
Dhx35 |
A |
T |
2: 158,673,630 (GRCm39) |
I354F |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,203,771 (GRCm39) |
N629S |
probably damaging |
Het |
Dnase1 |
A |
T |
16: 3,856,453 (GRCm39) |
S132C |
probably damaging |
Het |
Dnttip2 |
T |
C |
3: 122,069,120 (GRCm39) |
S112P |
probably benign |
Het |
Eif4g3 |
C |
A |
4: 137,721,319 (GRCm39) |
P48T |
probably benign |
Het |
Fat4 |
A |
T |
3: 39,057,020 (GRCm39) |
T4239S |
probably benign |
Het |
Fbn2 |
A |
G |
18: 58,196,647 (GRCm39) |
V1419A |
possibly damaging |
Het |
Ghitm |
A |
C |
14: 36,847,204 (GRCm39) |
M290R |
probably damaging |
Het |
Glb1l |
T |
C |
1: 75,177,700 (GRCm39) |
D406G |
probably benign |
Het |
Glipr1l1 |
C |
A |
10: 111,898,153 (GRCm39) |
A86D |
probably benign |
Het |
Golm2 |
T |
C |
2: 121,737,218 (GRCm39) |
V141A |
probably benign |
Het |
Grm7 |
C |
T |
6: 111,184,713 (GRCm39) |
A348V |
probably benign |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Hdac2 |
T |
A |
10: 36,865,252 (GRCm39) |
N155K |
probably damaging |
Het |
Hus1b |
A |
G |
13: 31,130,930 (GRCm39) |
I243T |
probably benign |
Het |
Kcnab2 |
T |
C |
4: 152,496,450 (GRCm39) |
T65A |
probably damaging |
Het |
Lasp1 |
T |
A |
11: 97,706,383 (GRCm39) |
|
probably null |
Het |
Lrch3 |
G |
A |
16: 32,815,367 (GRCm39) |
|
probably benign |
Het |
Ltb4r2 |
C |
T |
14: 56,000,438 (GRCm39) |
T353M |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,366,118 (GRCm39) |
M1316T |
probably benign |
Het |
Msr1 |
G |
A |
8: 40,077,262 (GRCm39) |
T116I |
probably benign |
Het |
Nlrp5 |
A |
G |
7: 23,117,343 (GRCm39) |
I356V |
probably benign |
Het |
Npy |
C |
T |
6: 49,800,669 (GRCm39) |
S31F |
possibly damaging |
Het |
Nsd3 |
C |
T |
8: 26,152,955 (GRCm39) |
P432S |
probably damaging |
Het |
Nup160 |
A |
C |
2: 90,548,561 (GRCm39) |
R1037S |
probably damaging |
Het |
Or12j4 |
T |
A |
7: 140,046,458 (GRCm39) |
S115T |
probably benign |
Het |
Or4b1d |
A |
T |
2: 89,969,156 (GRCm39) |
I109N |
possibly damaging |
Het |
Or8s5 |
C |
T |
15: 98,237,929 (GRCm39) |
G314R |
probably benign |
Het |
Pcx |
A |
G |
19: 4,652,239 (GRCm39) |
E108G |
possibly damaging |
Het |
Pecam1 |
A |
T |
11: 106,590,468 (GRCm39) |
M102K |
probably benign |
Het |
Pgd |
G |
T |
4: 149,235,343 (GRCm39) |
Y433* |
probably null |
Het |
Pkd1l3 |
A |
G |
8: 110,355,404 (GRCm39) |
E744G |
probably benign |
Het |
Rb1 |
A |
G |
14: 73,535,503 (GRCm39) |
I118T |
probably benign |
Het |
Rdh11 |
T |
A |
12: 79,229,589 (GRCm39) |
H228L |
probably damaging |
Het |
Rnf44 |
C |
T |
13: 54,829,599 (GRCm39) |
R340Q |
probably damaging |
Het |
Rtraf |
A |
G |
14: 19,869,998 (GRCm39) |
V88A |
possibly damaging |
Het |
Sigmar1 |
T |
C |
4: 41,739,380 (GRCm39) |
T185A |
possibly damaging |
Het |
Thsd1 |
A |
G |
8: 22,749,081 (GRCm39) |
R590G |
probably damaging |
Het |
Trappc14 |
A |
G |
5: 138,260,110 (GRCm39) |
S344P |
probably damaging |
Het |
Trbv19 |
T |
C |
6: 41,155,573 (GRCm39) |
|
probably benign |
Het |
Txnrd3 |
T |
C |
6: 89,631,405 (GRCm39) |
|
probably null |
Het |
Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
Xpnpep1 |
T |
C |
19: 53,000,275 (GRCm39) |
N192D |
possibly damaging |
Het |
Zfp955b |
T |
A |
17: 33,521,051 (GRCm39) |
S173R |
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 |
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 |
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'- GATGTACCCAGTGCTTATCCCAG -3'
(R):5'- CCAGCCAATTCGATCCTCTG -3'
Sequencing Primer
(F):5'- AGTGCTTATCCCAGCGTAGGAC -3'
(R):5'- TGAAAATCCATCTTCACTTCCGAG -3'
|
Posted On |
2018-06-06 |