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: 0.456)
|
| Stock # |
IGL01141
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
94601937-94660275 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94649855 bp (GRCm38)
|
| 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: 109,937,730 (GRCm38) |
D1447E |
probably damaging |
Het |
| Atp2a3 |
T |
C |
11: 72,982,665 (GRCm38) |
I788T |
probably damaging |
Het |
| Axin1 |
G |
A |
17: 26,190,041 (GRCm38) |
E672K |
probably damaging |
Het |
| Ccno |
A |
G |
13: 112,989,027 (GRCm38) |
D175G |
probably damaging |
Het |
| Cep83 |
C |
A |
10: 94,788,757 (GRCm38) |
T632K |
probably benign |
Het |
| Ckmt1 |
A |
T |
2: 121,362,993 (GRCm38) |
I345F |
probably benign |
Het |
| Cntnap1 |
G |
A |
11: 101,178,807 (GRCm38) |
|
probably benign |
Het |
| Edem2 |
A |
G |
2: 155,709,028 (GRCm38) |
Y340H |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,714,016 (GRCm38) |
K249R |
probably benign |
Het |
| Fndc9 |
T |
C |
11: 46,237,699 (GRCm38) |
I15T |
probably benign |
Het |
| Gm4758 |
A |
G |
16: 36,308,064 (GRCm38) |
E7G |
probably benign |
Het |
| Grip2 |
G |
T |
6: 91,782,897 (GRCm38) |
Q300K |
probably benign |
Het |
| Herc2 |
T |
C |
7: 56,212,841 (GRCm38) |
V4050A |
possibly damaging |
Het |
| Jup |
A |
T |
11: 100,386,249 (GRCm38) |
D44E |
probably benign |
Het |
| Lingo3 |
G |
T |
10: 80,835,313 (GRCm38) |
P261Q |
probably damaging |
Het |
| Lrrfip2 |
C |
T |
9: 111,219,715 (GRCm38) |
R311W |
probably damaging |
Het |
| Mansc1 |
C |
A |
6: 134,621,785 (GRCm38) |
L56F |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,434,761 (GRCm38) |
I484T |
probably damaging |
Het |
| Mpeg1 |
T |
A |
19: 12,462,785 (GRCm38) |
F536I |
probably damaging |
Het |
| Mrgprb1 |
T |
G |
7: 48,448,027 (GRCm38) |
T46P |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,870,499 (GRCm38) |
N612S |
probably benign |
Het |
| Olfr477 |
T |
C |
7: 107,990,551 (GRCm38) |
F62S |
probably damaging |
Het |
| Olfr805 |
T |
A |
10: 129,722,945 (GRCm38) |
I200L |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,441,150 (GRCm38) |
S178P |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,258,527 (GRCm38) |
F706L |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,726,704 (GRCm38) |
T1853A |
probably damaging |
Het |
| Reln |
G |
T |
5: 21,919,069 (GRCm38) |
P2813Q |
probably damaging |
Het |
| Reln |
A |
C |
5: 21,969,033 (GRCm38) |
F2024C |
probably damaging |
Het |
| Riox1 |
A |
G |
12: 83,951,794 (GRCm38) |
Q368R |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,495,113 (GRCm38) |
N1020S |
possibly damaging |
Het |
| Scyl2 |
A |
G |
10: 89,640,635 (GRCm38) |
V876A |
probably benign |
Het |
| Sdhaf3 |
T |
A |
6: 6,956,141 (GRCm38) |
F39I |
probably damaging |
Het |
| Sfxn4 |
T |
C |
19: 60,851,014 (GRCm38) |
E202G |
possibly damaging |
Het |
| Slc1a4 |
A |
T |
11: 20,308,644 (GRCm38) |
|
probably benign |
Het |
| Sln |
A |
G |
9: 53,853,500 (GRCm38) |
I10V |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,449,726 (GRCm38) |
E568G |
probably damaging |
Het |
| Supt7l |
G |
A |
5: 31,518,435 (GRCm38) |
P270S |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,886,474 (GRCm38) |
|
probably benign |
Het |
| Tatdn1 |
A |
T |
15: 58,909,567 (GRCm38) |
|
probably benign |
Het |
| Tfip11 |
C |
T |
5: 112,329,503 (GRCm38) |
P117L |
possibly damaging |
Het |
| Vpreb1 |
T |
C |
16: 16,869,087 (GRCm38) |
M9V |
probably benign |
Het |
|
| Other mutations in Rspry1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Rspry1
|
APN |
8 |
94,622,980 (GRCm38) |
intron |
probably benign |
|
|
IGL00158:Rspry1
|
APN |
8 |
94,622,986 (GRCm38) |
start codon destroyed |
probably null |
0.89 |
|
IGL01860:Rspry1
|
APN |
8 |
94,649,816 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02174:Rspry1
|
APN |
8 |
94,633,140 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL02819:Rspry1
|
APN |
8 |
94,654,256 (GRCm38) |
missense |
probably benign |
0.42 |
|
IGL02926:Rspry1
|
APN |
8 |
94,649,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03366:Rspry1
|
APN |
8 |
94,650,334 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0570:Rspry1
|
UTSW |
8 |
94,629,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1833:Rspry1
|
UTSW |
8 |
94,635,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1988:Rspry1
|
UTSW |
8 |
94,632,054 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2444:Rspry1
|
UTSW |
8 |
94,623,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3623:Rspry1
|
UTSW |
8 |
94,649,777 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3624:Rspry1
|
UTSW |
8 |
94,649,777 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4275:Rspry1
|
UTSW |
8 |
94,649,761 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4888:Rspry1
|
UTSW |
8 |
94,658,789 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5026:Rspry1
|
UTSW |
8 |
94,650,303 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5310:Rspry1
|
UTSW |
8 |
94,623,185 (GRCm38) |
missense |
probably benign |
|
|
R5374:Rspry1
|
UTSW |
8 |
94,654,264 (GRCm38) |
missense |
probably benign |
0.38 |
|
R5374:Rspry1
|
UTSW |
8 |
94,623,008 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5387:Rspry1
|
UTSW |
8 |
94,638,286 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5517:Rspry1
|
UTSW |
8 |
94,636,760 (GRCm38) |
splice site |
probably null |
|
|
R5631:Rspry1
|
UTSW |
8 |
94,629,078 (GRCm38) |
start codon destroyed |
possibly damaging |
0.79 |
|
R5653:Rspry1
|
UTSW |
8 |
94,636,611 (GRCm38) |
splice site |
probably null |
|
|
R6065:Rspry1
|
UTSW |
8 |
94,622,987 (GRCm38) |
start codon destroyed |
probably null |
0.98 |
|
R6220:Rspry1
|
UTSW |
8 |
94,658,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6276:Rspry1
|
UTSW |
8 |
94,623,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6821:Rspry1
|
UTSW |
8 |
94,635,431 (GRCm38) |
nonsense |
probably null |
|
|
R7390:Rspry1
|
UTSW |
8 |
94,623,185 (GRCm38) |
missense |
probably benign |
|
|
R7460:Rspry1
|
UTSW |
8 |
94,650,335 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7644:Rspry1
|
UTSW |
8 |
94,658,768 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7717:Rspry1
|
UTSW |
8 |
94,623,122 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7768:Rspry1
|
UTSW |
8 |
94,629,841 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7940:Rspry1
|
UTSW |
8 |
94,623,007 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7978:Rspry1
|
UTSW |
8 |
94,623,125 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8087:Rspry1
|
UTSW |
8 |
94,654,297 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8174:Rspry1
|
UTSW |
8 |
94,649,822 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8326:Rspry1
|
UTSW |
8 |
94,639,589 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8676:Rspry1
|
UTSW |
8 |
94,632,119 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8715:Rspry1
|
UTSW |
8 |
94,623,260 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8869:Rspry1
|
UTSW |
8 |
94,633,152 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9253:Rspry1
|
UTSW |
8 |
94,622,993 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9281:Rspry1
|
UTSW |
8 |
94,636,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9699:Rspry1
|
UTSW |
8 |
94,654,229 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0010:Rspry1
|
UTSW |
8 |
94,629,801 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
| Posted On |
2013-06-21 |
Incidental Mutation