Incidental Mutation 'IGL01141:Rspry1'
| ID |
51826 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rspry1
|
| Ensembl Gene |
ENSMUSG00000050079 |
| Gene Name |
ring finger and SPRY domain containing 1 |
| Synonyms |
4930470D19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
IGL01141
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
95328569-95386905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95376483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 335
(V335A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060389]
[ENSMUST00000211983]
[ENSMUST00000212729]
|
| AlphaFold |
Q8BVR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060389
AA Change: V459A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: V459A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
95 |
N/A |
INTRINSIC |
|
SPRY
|
358 |
482 |
2.94e-26 |
SMART |
|
RING
|
527 |
561 |
3.93e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211941
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211983
AA Change: V459A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212729
AA Change: V335A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
T |
11: 109,828,556 (GRCm39) |
D1447E |
probably damaging |
Het |
| Atp2a3 |
T |
C |
11: 72,873,491 (GRCm39) |
I788T |
probably damaging |
Het |
| Axin1 |
G |
A |
17: 26,409,015 (GRCm39) |
E672K |
probably damaging |
Het |
| Ccno |
A |
G |
13: 113,125,561 (GRCm39) |
D175G |
probably damaging |
Het |
| Cep83 |
C |
A |
10: 94,624,619 (GRCm39) |
T632K |
probably benign |
Het |
| Ckmt1 |
A |
T |
2: 121,193,474 (GRCm39) |
I345F |
probably benign |
Het |
| Cntnap1 |
G |
A |
11: 101,069,633 (GRCm39) |
|
probably benign |
Het |
| Cstdc3 |
A |
G |
16: 36,128,426 (GRCm39) |
E7G |
probably benign |
Het |
| Edem2 |
A |
G |
2: 155,550,948 (GRCm39) |
Y340H |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,419,653 (GRCm39) |
K249R |
probably benign |
Het |
| Fndc9 |
T |
C |
11: 46,128,526 (GRCm39) |
I15T |
probably benign |
Het |
| Grip2 |
G |
T |
6: 91,759,878 (GRCm39) |
Q300K |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,862,589 (GRCm39) |
V4050A |
possibly damaging |
Het |
| Jup |
A |
T |
11: 100,277,075 (GRCm39) |
D44E |
probably benign |
Het |
| Lingo3 |
G |
T |
10: 80,671,147 (GRCm39) |
P261Q |
probably damaging |
Het |
| Lrrfip2 |
C |
T |
9: 111,048,783 (GRCm39) |
R311W |
probably damaging |
Het |
| Mansc1 |
C |
A |
6: 134,598,748 (GRCm39) |
L56F |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,571,269 (GRCm39) |
I484T |
probably damaging |
Het |
| Mpeg1 |
T |
A |
19: 12,440,149 (GRCm39) |
F536I |
probably damaging |
Het |
| Mrgprb1 |
T |
G |
7: 48,097,775 (GRCm39) |
T46P |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,847,458 (GRCm39) |
N612S |
probably benign |
Het |
| Or5p56 |
T |
C |
7: 107,589,758 (GRCm39) |
F62S |
probably damaging |
Het |
| Or6c212 |
T |
A |
10: 129,558,814 (GRCm39) |
I200L |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,331,162 (GRCm39) |
S178P |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,165,811 (GRCm39) |
F706L |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,544,568 (GRCm39) |
T1853A |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,174,031 (GRCm39) |
F2024C |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,124,067 (GRCm39) |
P2813Q |
probably damaging |
Het |
| Riox1 |
A |
G |
12: 83,998,568 (GRCm39) |
Q368R |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,325,457 (GRCm39) |
N1020S |
possibly damaging |
Het |
| Scyl2 |
A |
G |
10: 89,476,497 (GRCm39) |
V876A |
probably benign |
Het |
| Sdhaf3 |
T |
A |
6: 6,956,141 (GRCm39) |
F39I |
probably damaging |
Het |
| Sfxn4 |
T |
C |
19: 60,839,452 (GRCm39) |
E202G |
possibly damaging |
Het |
| Slc1a4 |
A |
T |
11: 20,258,644 (GRCm39) |
|
probably benign |
Het |
| Sln |
A |
G |
9: 53,760,784 (GRCm39) |
I10V |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,340,552 (GRCm39) |
E568G |
probably damaging |
Het |
| Supt7l |
G |
A |
5: 31,675,779 (GRCm39) |
P270S |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,777,300 (GRCm39) |
|
probably benign |
Het |
| Tatdn1 |
A |
T |
15: 58,781,416 (GRCm39) |
|
probably benign |
Het |
| Tfip11 |
C |
T |
5: 112,477,369 (GRCm39) |
P117L |
possibly damaging |
Het |
| Vpreb1a |
T |
C |
16: 16,686,951 (GRCm39) |
M9V |
probably benign |
Het |
|
| Other mutations in Rspry1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Rspry1
|
APN |
8 |
95,349,608 (GRCm39) |
intron |
probably benign |
|
|
IGL00158:Rspry1
|
APN |
8 |
95,349,614 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
|
IGL01860:Rspry1
|
APN |
8 |
95,376,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02174:Rspry1
|
APN |
8 |
95,359,768 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02819:Rspry1
|
APN |
8 |
95,380,884 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02926:Rspry1
|
APN |
8 |
95,376,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03366:Rspry1
|
APN |
8 |
95,376,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0570:Rspry1
|
UTSW |
8 |
95,356,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1833:Rspry1
|
UTSW |
8 |
95,362,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Rspry1
|
UTSW |
8 |
95,358,682 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2444:Rspry1
|
UTSW |
8 |
95,349,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3623:Rspry1
|
UTSW |
8 |
95,376,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3624:Rspry1
|
UTSW |
8 |
95,376,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4275:Rspry1
|
UTSW |
8 |
95,376,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4888:Rspry1
|
UTSW |
8 |
95,385,417 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5026:Rspry1
|
UTSW |
8 |
95,376,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5310:Rspry1
|
UTSW |
8 |
95,349,813 (GRCm39) |
missense |
probably benign |
|
|
R5374:Rspry1
|
UTSW |
8 |
95,380,892 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5374:Rspry1
|
UTSW |
8 |
95,349,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5387:Rspry1
|
UTSW |
8 |
95,364,914 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5517:Rspry1
|
UTSW |
8 |
95,363,388 (GRCm39) |
splice site |
probably null |
|
|
R5631:Rspry1
|
UTSW |
8 |
95,355,706 (GRCm39) |
start codon destroyed |
possibly damaging |
0.79 |
|
R5653:Rspry1
|
UTSW |
8 |
95,363,239 (GRCm39) |
splice site |
probably null |
|
|
R6065:Rspry1
|
UTSW |
8 |
95,349,615 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R6220:Rspry1
|
UTSW |
8 |
95,385,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6276:Rspry1
|
UTSW |
8 |
95,349,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6821:Rspry1
|
UTSW |
8 |
95,362,059 (GRCm39) |
nonsense |
probably null |
|
|
R7390:Rspry1
|
UTSW |
8 |
95,349,813 (GRCm39) |
missense |
probably benign |
|
|
R7460:Rspry1
|
UTSW |
8 |
95,376,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7644:Rspry1
|
UTSW |
8 |
95,385,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7717:Rspry1
|
UTSW |
8 |
95,349,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Rspry1
|
UTSW |
8 |
95,356,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7940:Rspry1
|
UTSW |
8 |
95,349,635 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7978:Rspry1
|
UTSW |
8 |
95,349,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8087:Rspry1
|
UTSW |
8 |
95,380,925 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8174:Rspry1
|
UTSW |
8 |
95,376,450 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8326:Rspry1
|
UTSW |
8 |
95,366,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8676:Rspry1
|
UTSW |
8 |
95,358,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8715:Rspry1
|
UTSW |
8 |
95,349,888 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8869:Rspry1
|
UTSW |
8 |
95,359,780 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9253:Rspry1
|
UTSW |
8 |
95,349,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9281:Rspry1
|
UTSW |
8 |
95,363,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9699:Rspry1
|
UTSW |
8 |
95,380,857 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0010:Rspry1
|
UTSW |
8 |
95,356,429 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
| Posted On |
2013-06-21 |
Incidental Mutation