Incidental Mutation 'R5263:Zranb1'
| ID |
401552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zranb1
|
| Ensembl Gene |
ENSMUSG00000030967 |
| Gene Name |
zinc finger, RAN-binding domain containing 1 |
| Synonyms |
9330160G10Rik, D7Wsu87e |
| MMRRC Submission |
042831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R5263 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
132532905-132588127 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
CTGATGATGATG to CTGATGATGATGATG
at 132584556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033265]
[ENSMUST00000033269]
[ENSMUST00000106157]
[ENSMUST00000124096]
[ENSMUST00000165457]
[ENSMUST00000210507]
[ENSMUST00000215716]
[ENSMUST00000166439]
[ENSMUST00000169570]
|
| AlphaFold |
Q7M760 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033265
|
| SMART Domains |
Protein: ENSMUSP00000033265
Gene: ENSMUSG00000030967
| 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 benign
Transcript: ENSMUST00000106157
|
| SMART Domains |
Protein: ENSMUSP00000101763
Gene: ENSMUSG00000030967
| 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 |
noncoding transcript
Transcript: ENSMUST00000131085
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153335
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210507
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215716
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
G |
T |
3: 138,133,816 (GRCm39) |
V309L |
probably benign |
Het |
| Agmo |
T |
C |
12: 37,407,680 (GRCm39) |
V188A |
probably benign |
Het |
| Aqr |
A |
G |
2: 113,947,059 (GRCm39) |
M1041T |
probably damaging |
Het |
| Arhgef4 |
T |
A |
1: 34,764,078 (GRCm39) |
S1111R |
possibly damaging |
Het |
| Ascc3 |
A |
C |
10: 50,592,757 (GRCm39) |
E1144D |
probably benign |
Het |
| Cct3 |
T |
C |
3: 88,228,672 (GRCm39) |
|
probably null |
Het |
| Cd209f |
T |
C |
8: 4,154,506 (GRCm39) |
T114A |
probably benign |
Het |
| Cgnl1 |
G |
A |
9: 71,539,936 (GRCm39) |
Q1103* |
probably null |
Het |
| Cop1 |
G |
A |
1: 159,152,507 (GRCm39) |
D586N |
probably damaging |
Het |
| Dcaf5 |
A |
G |
12: 80,395,120 (GRCm39) |
S350P |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,084,755 (GRCm39) |
C658R |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,969,446 (GRCm39) |
V424I |
possibly damaging |
Het |
| Gfap |
C |
T |
11: 102,787,756 (GRCm39) |
R63Q |
probably damaging |
Het |
| Gm10563 |
CTTT |
CTTTATTT |
4: 155,698,940 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
C |
A |
10: 51,502,900 (GRCm39) |
G321V |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Izumo1r |
A |
G |
9: 14,812,976 (GRCm39) |
C99R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,850,691 (GRCm39) |
D102G |
probably damaging |
Het |
| Mettl4 |
G |
A |
17: 95,047,937 (GRCm39) |
Q235* |
probably null |
Het |
| Mmrn2 |
A |
G |
14: 34,121,541 (GRCm39) |
T804A |
probably benign |
Het |
| Mrgprb5 |
A |
G |
7: 47,817,937 (GRCm39) |
V266A |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,842,188 (GRCm39) |
D195G |
probably damaging |
Het |
| Pld4 |
T |
C |
12: 112,731,465 (GRCm39) |
L206P |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Prkd1 |
A |
G |
12: 50,435,089 (GRCm39) |
L546P |
probably damaging |
Het |
| Rhob |
A |
T |
12: 8,549,232 (GRCm39) |
M134K |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,548,347 (GRCm39) |
S3087P |
possibly damaging |
Het |
| Sema6c |
T |
C |
3: 95,080,463 (GRCm39) |
L887P |
probably benign |
Het |
| Sltm |
T |
C |
9: 70,492,081 (GRCm39) |
S648P |
unknown |
Het |
| Sucnr1 |
A |
G |
3: 59,994,190 (GRCm39) |
I239M |
possibly damaging |
Het |
| Tgtp2 |
T |
A |
11: 48,950,090 (GRCm39) |
M161L |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,663,137 (GRCm39) |
V1037A |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,321,841 (GRCm39) |
H285Q |
probably benign |
Het |
| Zfp971 |
T |
A |
2: 177,675,555 (GRCm39) |
C385S |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,962,791 (GRCm39) |
V283E |
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 |
|
|
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 |
|
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'- GCACTTCAGGAGGTGGAAAC -3'
(R):5'- ACTACAGGTGCCATCACTTC -3'
Sequencing Primer
(F):5'- GCCAGGCACTTGCTCCTTG -3'
(R):5'- ATCACTTCTGGGAGGCACATG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation