Incidental Mutation 'R1318:Zranb1'
| ID |
157605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zranb1
|
| Ensembl Gene |
ENSMUSG00000030967 |
| Gene Name |
zinc finger, RAN-binding domain containing 1 |
| Synonyms |
9330160G10Rik, D7Wsu87e |
| MMRRC Submission |
039384-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R1318 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
132532905-132588127 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 132568281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 313
(S313*)
|
| 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: S287*
|
| SMART Domains |
Protein: ENSMUSP00000033265
Gene: ENSMUSG00000030967
AA Change: S287*
| 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: S287*
|
| SMART Domains |
Protein: ENSMUSP00000101763
Gene: ENSMUSG00000030967
AA Change: S287*
| 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: S287*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215716
AA Change: S313*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 92.9%
- 20x: 82.6%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
T |
5: 8,751,621 (GRCm39) |
V334L |
probably benign |
Het |
| Alms1 |
T |
G |
6: 85,605,531 (GRCm39) |
S1925A |
possibly damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Comt |
G |
T |
16: 18,226,641 (GRCm39) |
D248E |
probably damaging |
Het |
| Ctnna2 |
A |
C |
6: 76,859,773 (GRCm39) |
N874K |
probably damaging |
Het |
| Dnah7b |
C |
T |
1: 46,138,669 (GRCm39) |
P237L |
possibly damaging |
Het |
| Galnt4 |
T |
G |
10: 98,945,772 (GRCm39) |
V499G |
probably damaging |
Het |
| Gh |
T |
C |
11: 106,191,923 (GRCm39) |
T96A |
probably benign |
Het |
| Gng8 |
T |
C |
7: 16,629,161 (GRCm39) |
V29A |
probably damaging |
Het |
| Hnrnpu |
G |
A |
1: 178,157,822 (GRCm39) |
|
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,040,972 (GRCm39) |
L1001P |
probably damaging |
Het |
| Jph1 |
A |
C |
1: 17,067,714 (GRCm39) |
F658V |
probably damaging |
Het |
| Kcnj3 |
A |
T |
2: 55,327,750 (GRCm39) |
M180L |
possibly damaging |
Het |
| Ldb2 |
C |
T |
5: 44,692,379 (GRCm39) |
|
probably null |
Het |
| Mettl2 |
C |
A |
11: 105,028,597 (GRCm39) |
Y316* |
probably null |
Het |
| Mug2 |
G |
A |
6: 122,054,361 (GRCm39) |
V1047M |
probably damaging |
Het |
| Mxra8 |
G |
T |
4: 155,925,956 (GRCm39) |
C140F |
probably damaging |
Het |
| Mylip |
T |
C |
13: 45,559,401 (GRCm39) |
I101T |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 115,039,442 (GRCm39) |
N210S |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,729,328 (GRCm39) |
|
probably benign |
Het |
| Plaat3 |
T |
A |
19: 7,556,591 (GRCm39) |
|
probably null |
Het |
| Rims2 |
G |
A |
15: 39,381,222 (GRCm39) |
R1051H |
probably damaging |
Het |
| Rnf4 |
C |
A |
5: 34,508,590 (GRCm39) |
R151S |
probably damaging |
Het |
| Serpina11 |
A |
T |
12: 103,952,777 (GRCm39) |
|
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,542 (GRCm39) |
T105S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,706,164 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
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 |
|
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 |
|
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'- TGGAGCCTAGCCATGATGTGAGAG -3'
(R):5'- AGCTGGTGACAGTTCAGTGGTAAAAC -3'
Sequencing Primer
(F):5'- GTACCAAACTAGGCAGTTCTAGTC -3'
(R):5'- TCAGTGGTAAAACATTTATTTACCCC -3'
|
| Nature of Mutation |
GAAGCATACAAGTCATCGGGAGGAGACATTGCA
282 -E--A--Y--K--S--S--G--G--D--I--A-
|
| Genotyping |
R1318:Zranb1 genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transversion.
PCR Primers
R1318:Zranb1(F): 5’- TGGAGCCTAGCCATGATGTGAGAG-3’
R1318:Zranb1(R): 5’- AGCTGGTGACAGTTCAGTGGTAAAAC-3’ Sequencing Primer
R1318:Zranb1_seq(F): 5’- GTACCAAACTAGGCAGTTCTAGTC-3’
R1318:Zranb1_seq(R): 5’- TCAGTGGTAAAACATTTATTTACCCC-3’
PCR program
1) 94°C 2:00
2) 94°C 0:30
3) 55°C 0:30
4) 72°C 1:00
5) repeat steps (2-4) 40X
6) 72°C 10:00
7) 4°C ∞ The following sequence of 488 nucleotides is amplified (Chr.7: 132966276-132966763, GRCm38; NC_000083):
34732 tggagccta
34741 gccatgatgt gagaggtaag taccaaacta ggcagttcta gtctggaaat tttgaaattg
34801 tagagaaata ctaattttcc ttattttctt taggtgatgt aaatgatatc ccaggatcca
34861 ggaaggacaa agaaatgttt gaaagaattt aatgtggtca cttcatctgt atataccttt
34921 tgaaacaaaa taagttcttt tctatgttgg tgcttgtttt aggtgttgtg gaaggtgact
34981 tagcagccat agaagcatac aagtcatcgg gaggagacat tgcacgccag cttactgcag
35041 atgaagtacg cttgctgaac cgtccttctg cttttgatgt tggctacact ctggtacatc
35101 tggccatacg ctttcagagg caggacatgt tagcgatatt gcttacagag gtaagtatgg
35161 tgatttggtt attgaattta ggggtaaata aatgttttac cactgaactg tcaccagct
|
FASTA sequence Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide (C) is shown in red text (C>A).
|
| Posted On |
2014-02-18 |
Incidental Mutation