Incidental Mutation 'R9596:Zranb1'
| ID |
723280 |
| 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 # |
R9596 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
132532905-132588127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132552146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 266
(F266L)
|
| 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: F266L
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000033265
Gene: ENSMUSG00000030967
AA Change: F266L
| 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: F266L
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101763
Gene: ENSMUSG00000030967
AA Change: F266L
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215716
AA Change: F292L
PolyPhen 2
Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
G |
T |
1: 74,320,262 (GRCm39) |
Q355K |
probably benign |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| AI661453 |
T |
C |
17: 47,780,411 (GRCm39) |
S188P |
unknown |
Het |
| Atp10a |
A |
G |
7: 58,477,553 (GRCm39) |
S1251G |
probably damaging |
Het |
| Ccr10 |
A |
G |
11: 101,065,018 (GRCm39) |
F171L |
probably benign |
Het |
| Clec10a |
A |
T |
11: 70,059,973 (GRCm39) |
D65V |
probably damaging |
Het |
| Clybl |
A |
T |
14: 122,548,768 (GRCm39) |
I57L |
probably benign |
Het |
| Col5a1 |
G |
T |
2: 27,819,551 (GRCm39) |
E218* |
probably null |
Het |
| Diaph1 |
G |
A |
18: 38,024,111 (GRCm39) |
P576S |
unknown |
Het |
| Dsg1c |
T |
A |
18: 20,416,361 (GRCm39) |
I754N |
probably benign |
Het |
| Fam47e |
G |
C |
5: 92,726,395 (GRCm39) |
R111P |
probably benign |
Het |
| Fastkd3 |
G |
A |
13: 68,735,806 (GRCm39) |
V519M |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 25,193,392 (GRCm39) |
Y634* |
probably null |
Het |
| Frem3 |
G |
A |
8: 81,341,951 (GRCm39) |
V1415I |
probably benign |
Het |
| Herc2 |
G |
A |
7: 55,834,595 (GRCm39) |
S3191N |
|
Het |
| Kif19a |
A |
T |
11: 114,676,752 (GRCm39) |
E527V |
probably benign |
Het |
| Lmbr1 |
C |
A |
5: 29,440,105 (GRCm39) |
G420* |
probably null |
Het |
| Map3k9 |
A |
G |
12: 81,777,404 (GRCm39) |
S526P |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,497,915 (GRCm39) |
L506Q |
possibly damaging |
Het |
| Mroh9 |
T |
C |
1: 162,893,576 (GRCm39) |
I200V |
probably damaging |
Het |
| Mrps14 |
T |
C |
1: 160,027,122 (GRCm39) |
V110A |
possibly damaging |
Het |
| Mta1 |
A |
G |
12: 113,090,470 (GRCm39) |
Q209R |
probably damaging |
Het |
| Mtss2 |
G |
A |
8: 111,458,689 (GRCm39) |
S195N |
|
Het |
| Nlgn1 |
T |
A |
3: 25,488,587 (GRCm39) |
I583F |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 110,042,956 (GRCm39) |
|
probably benign |
Het |
| Or10w1 |
A |
G |
19: 13,632,002 (GRCm39) |
S70G |
probably damaging |
Het |
| Or1p1c |
C |
T |
11: 74,160,289 (GRCm39) |
H25Y |
probably benign |
Het |
| Or2ag13 |
A |
T |
7: 106,313,412 (GRCm39) |
Y159N |
probably benign |
Het |
| Or5ac25 |
A |
G |
16: 59,181,942 (GRCm39) |
I213T |
possibly damaging |
Het |
| Or6c65 |
A |
G |
10: 129,603,988 (GRCm39) |
T208A |
probably damaging |
Het |
| Pcdha12 |
A |
T |
18: 37,154,302 (GRCm39) |
L340F |
probably benign |
Het |
| Pdk4 |
T |
A |
6: 5,491,842 (GRCm39) |
M173L |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,772,830 (GRCm39) |
S1258P |
probably benign |
Het |
| Plcd1 |
A |
T |
9: 118,917,183 (GRCm39) |
L22Q |
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,570,113 (GRCm39) |
D232G |
probably damaging |
Het |
| Rest |
C |
T |
5: 77,423,141 (GRCm39) |
T315M |
probably damaging |
Het |
| Scrn2 |
G |
A |
11: 96,923,907 (GRCm39) |
V264M |
probably damaging |
Het |
| Sipa1l3 |
C |
A |
7: 29,031,691 (GRCm39) |
V1513F |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,330,968 (GRCm39) |
V1466A |
possibly damaging |
Het |
| Slc44a1 |
T |
A |
4: 53,544,553 (GRCm39) |
N421K |
probably benign |
Het |
| Smc6 |
G |
T |
12: 11,345,045 (GRCm39) |
R662I |
probably damaging |
Het |
| Spata31e5 |
C |
A |
1: 28,815,688 (GRCm39) |
M781I |
probably benign |
Het |
| Srcap |
T |
A |
7: 127,131,036 (GRCm39) |
W751R |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,767,462 (GRCm39) |
F645L |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 177,990,212 (GRCm39) |
|
probably null |
Het |
| Syne4 |
A |
G |
7: 30,014,504 (GRCm39) |
T41A |
probably benign |
Het |
| Tns3 |
G |
A |
11: 8,401,142 (GRCm39) |
T1052M |
possibly damaging |
Het |
| Trap1 |
A |
T |
16: 3,871,374 (GRCm39) |
I381N |
probably damaging |
Het |
| Tshz1 |
A |
G |
18: 84,031,904 (GRCm39) |
S835P |
possibly damaging |
Het |
| Ube3b |
T |
A |
5: 114,527,171 (GRCm39) |
W130R |
probably damaging |
Het |
| Ubr5 |
G |
A |
15: 37,986,213 (GRCm39) |
T2207I |
|
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r11 |
T |
G |
5: 109,201,563 (GRCm39) |
I314L |
possibly damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,791 (GRCm39) |
I356L |
probably benign |
Het |
| Vmn2r31 |
G |
T |
7: 7,397,292 (GRCm39) |
T322N |
probably benign |
Het |
| Vmn2r8 |
A |
T |
5: 108,947,196 (GRCm39) |
F519I |
possibly damaging |
Het |
| Wdr35 |
T |
C |
12: 9,036,092 (GRCm39) |
F288L |
probably benign |
Het |
| Xab2 |
A |
T |
8: 3,663,018 (GRCm39) |
V521D |
probably damaging |
Het |
| Zfp639 |
T |
C |
3: 32,574,269 (GRCm39) |
F298S |
probably damaging |
Het |
| Zfp786 |
G |
A |
6: 47,797,406 (GRCm39) |
R511* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 42,839,834 (GRCm39) |
C434S |
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 |
|
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 |
|
R9708:Zranb1
|
UTSW |
7 |
132,584,600 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGCAGTAGTGGTAATAGC -3'
(R):5'- AGGTCACAGATACAGAACTTTATGC -3'
Sequencing Primer
(F):5'- TGGTAATAGCCAAAGAAGATCACCTC -3'
(R):5'- AGATACAGAACTTTATGCATGCATAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation