Incidental Mutation 'R8463:Zranb1'
| ID |
656662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zranb1
|
| Ensembl Gene |
ENSMUSG00000030967 |
| Gene Name |
zinc finger, RAN-binding domain containing 1 |
| Synonyms |
9330160G10Rik, D7Wsu87e |
| MMRRC Submission |
067907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R8463 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
132532905-132588127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132551810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 154
(T154A)
|
| 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: T154A
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000033265
Gene: ENSMUSG00000030967
AA Change: T154A
| 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: T154A
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101763
Gene: ENSMUSG00000030967
AA Change: T154A
| 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: T154A
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215716
AA Change: T180A
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (64/65) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
A |
9: 44,192,909 (GRCm39) |
I146F |
probably damaging |
Het |
| Adcy8 |
G |
T |
15: 64,792,874 (GRCm39) |
D27E |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,986,113 (GRCm39) |
I2466V |
probably benign |
Het |
| BC005624 |
T |
A |
2: 30,871,817 (GRCm39) |
E19V |
possibly damaging |
Het |
| Bnc2 |
A |
T |
4: 84,211,608 (GRCm39) |
F279I |
probably damaging |
Het |
| Bub1 |
A |
T |
2: 127,659,353 (GRCm39) |
L335M |
probably benign |
Het |
| Cdkn1c |
G |
A |
7: 143,014,324 (GRCm39) |
H41Y |
possibly damaging |
Het |
| Celsr1 |
G |
A |
15: 85,914,415 (GRCm39) |
P1186L |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,353,236 (GRCm39) |
L75S |
probably benign |
Het |
| Cntn6 |
A |
T |
6: 104,749,580 (GRCm39) |
E338D |
possibly damaging |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Dlg2 |
G |
T |
7: 91,617,441 (GRCm39) |
M289I |
probably benign |
Het |
| Dzip1l |
A |
T |
9: 99,519,875 (GRCm39) |
D134V |
possibly damaging |
Het |
| Fam171b |
A |
G |
2: 83,683,801 (GRCm39) |
Y106C |
probably damaging |
Het |
| Fgd3 |
T |
C |
13: 49,420,081 (GRCm39) |
K599E |
possibly damaging |
Het |
| Gabrr2 |
A |
T |
4: 33,084,375 (GRCm39) |
I154F |
probably damaging |
Het |
| Gjd2 |
T |
A |
2: 113,842,053 (GRCm39) |
E141D |
probably benign |
Het |
| Gmds |
T |
C |
13: 32,003,906 (GRCm39) |
N371S |
probably benign |
Het |
| Gp2 |
C |
T |
7: 119,053,554 (GRCm39) |
A136T |
probably damaging |
Het |
| Gstm2 |
A |
G |
3: 107,893,672 (GRCm39) |
|
probably null |
Het |
| Hnmt |
T |
C |
2: 23,938,836 (GRCm39) |
M1V |
probably null |
Het |
| Hydin |
T |
C |
8: 111,237,553 (GRCm39) |
V1942A |
probably benign |
Het |
| Krt87 |
C |
A |
15: 101,332,506 (GRCm39) |
A236S |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,582,896 (GRCm39) |
H654L |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,322,250 (GRCm39) |
T1893M |
probably damaging |
Het |
| Lyg1 |
A |
T |
1: 37,988,922 (GRCm39) |
Y99* |
probably null |
Het |
| Mdga1 |
T |
C |
17: 30,068,703 (GRCm39) |
D208G |
probably damaging |
Het |
| Mgarp |
T |
C |
3: 51,296,348 (GRCm39) |
E218G |
probably damaging |
Het |
| Mif4gd |
T |
A |
11: 115,499,324 (GRCm39) |
D186V |
probably benign |
Het |
| Mlec |
T |
C |
5: 115,288,283 (GRCm39) |
Y191C |
probably damaging |
Het |
| Mtus1 |
C |
A |
8: 41,536,271 (GRCm39) |
V482L |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,570,435 (GRCm39) |
T695S |
unknown |
Het |
| Muc4 |
A |
T |
16: 32,574,201 (GRCm39) |
M760L |
probably benign |
Het |
| Mybl2 |
A |
T |
2: 162,916,638 (GRCm39) |
S430C |
probably damaging |
Het |
| Nepn |
A |
G |
10: 52,276,896 (GRCm39) |
N211D |
probably benign |
Het |
| Nuggc |
A |
G |
14: 65,851,011 (GRCm39) |
T294A |
probably damaging |
Het |
| Or51k2 |
G |
A |
7: 103,595,834 (GRCm39) |
|
probably null |
Het |
| Or5w16 |
A |
T |
2: 87,577,437 (GRCm39) |
E299V |
probably benign |
Het |
| Pcca |
A |
G |
14: 122,922,526 (GRCm39) |
|
probably null |
Het |
| Pcdhb13 |
T |
G |
18: 37,576,287 (GRCm39) |
S222A |
possibly damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plppr3 |
A |
T |
10: 79,703,397 (GRCm39) |
V29E |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,326,354 (GRCm39) |
P96L |
probably damaging |
Het |
| Pop4 |
A |
T |
7: 37,962,599 (GRCm39) |
*222R |
probably null |
Het |
| Prss2 |
T |
A |
6: 41,498,739 (GRCm39) |
M1K |
probably null |
Het |
| Prss3 |
C |
A |
6: 41,352,059 (GRCm39) |
R68L |
probably benign |
Het |
| Recql5 |
G |
A |
11: 115,787,619 (GRCm39) |
Q512* |
probably null |
Het |
| Rnf148 |
A |
G |
6: 23,654,801 (GRCm39) |
I65T |
probably benign |
Het |
| Scgb1b19 |
G |
A |
7: 32,987,082 (GRCm39) |
A78T |
probably benign |
Het |
| Sftpd |
A |
G |
14: 40,897,583 (GRCm39) |
|
probably null |
Het |
| Shank1 |
A |
G |
7: 44,003,605 (GRCm39) |
R1766G |
possibly damaging |
Het |
| Slc35e2 |
T |
C |
4: 155,694,615 (GRCm39) |
L54P |
probably damaging |
Het |
| Smg6 |
A |
G |
11: 74,820,886 (GRCm39) |
K386E |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,248,248 (GRCm39) |
S393P |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,249,590 (GRCm39) |
V66A |
unknown |
Het |
| Tpm1 |
G |
T |
9: 66,955,512 (GRCm39) |
A45E |
probably benign |
Het |
| Trmt2a |
T |
C |
16: 18,069,039 (GRCm39) |
Y294H |
probably damaging |
Het |
| Txnl4b |
T |
C |
8: 110,299,430 (GRCm39) |
V130A |
possibly damaging |
Het |
| Vmn2r14 |
C |
A |
5: 109,369,340 (GRCm39) |
V78L |
probably benign |
Het |
| Vmn2r27 |
A |
G |
6: 124,169,168 (GRCm39) |
V654A |
probably damaging |
Het |
| Wee2 |
G |
T |
6: 40,420,914 (GRCm39) |
M1I |
probably null |
Het |
| Xpnpep3 |
A |
G |
15: 81,332,672 (GRCm39) |
K403R |
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 |
|
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'- AACTGGCCAAGAGCAATCAG -3'
(R):5'- AAAATCCATCTTCACTTCCGAGTC -3'
Sequencing Primer
(F):5'- GCAATCAGATGTACCCAGTGCTTATC -3'
(R):5'- AGGTGATCTTCTTTGGCTATTACCAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation