Incidental Mutation 'IGL02819:Rspry1'
ID |
360922 |
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 # |
IGL02819
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
95328569-95386905 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 95380884 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 396
(V396A)
|
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: V520A
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000057275 Gene: ENSMUSG00000050079 AA Change: V520A
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: V520A
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212729
AA Change: V396A
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
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 |
4833439L19Rik |
C |
T |
13: 54,712,033 (GRCm39) |
|
probably benign |
Het |
Abcb8 |
T |
A |
5: 24,611,422 (GRCm39) |
N470K |
probably benign |
Het |
Adamtsl3 |
A |
T |
7: 82,223,329 (GRCm39) |
N1037Y |
probably damaging |
Het |
Adcy3 |
T |
C |
12: 4,256,986 (GRCm39) |
|
probably benign |
Het |
Ankrd35 |
A |
G |
3: 96,597,524 (GRCm39) |
D983G |
possibly damaging |
Het |
Asf1a |
A |
G |
10: 53,483,920 (GRCm39) |
T118A |
probably benign |
Het |
Atp2a3 |
T |
C |
11: 72,868,033 (GRCm39) |
Y389H |
probably damaging |
Het |
Atp5f1b |
T |
C |
10: 127,919,821 (GRCm39) |
I63T |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 143,028,946 (GRCm39) |
Y98H |
probably benign |
Het |
Caprin2 |
A |
G |
6: 148,749,756 (GRCm39) |
V518A |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Clcn2 |
C |
A |
16: 20,528,006 (GRCm39) |
E487* |
probably null |
Het |
Cog6 |
T |
A |
3: 52,916,966 (GRCm39) |
K184M |
probably damaging |
Het |
Cpn1 |
A |
G |
19: 43,956,907 (GRCm39) |
Y286H |
probably damaging |
Het |
Cpne9 |
A |
T |
6: 113,277,624 (GRCm39) |
S448C |
probably damaging |
Het |
Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
Cys1 |
T |
C |
12: 24,717,169 (GRCm39) |
E132G |
possibly damaging |
Het |
Depdc7 |
T |
C |
2: 104,555,071 (GRCm39) |
M280V |
probably benign |
Het |
Fhad1 |
C |
T |
4: 141,646,069 (GRCm39) |
D298N |
probably benign |
Het |
Golga1 |
T |
A |
2: 38,929,090 (GRCm39) |
N318Y |
probably null |
Het |
Hsd3b6 |
A |
G |
3: 98,718,262 (GRCm39) |
V34A |
probably benign |
Het |
Krt9 |
A |
G |
11: 100,082,346 (GRCm39) |
I193T |
probably damaging |
Het |
Lama4 |
A |
T |
10: 38,902,565 (GRCm39) |
I180F |
possibly damaging |
Het |
Lamc1 |
T |
C |
1: 153,126,407 (GRCm39) |
T458A |
probably damaging |
Het |
Lin28b |
A |
T |
10: 45,346,155 (GRCm39) |
M1K |
probably null |
Het |
Myo16 |
T |
C |
8: 10,372,600 (GRCm39) |
C100R |
probably damaging |
Het |
Nt5c3 |
A |
T |
6: 56,860,718 (GRCm39) |
M279K |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,742,255 (GRCm39) |
Y1016C |
probably damaging |
Het |
Rpl6 |
A |
G |
5: 121,345,264 (GRCm39) |
|
probably benign |
Het |
Rpn2 |
G |
T |
2: 157,158,130 (GRCm39) |
|
probably null |
Het |
Serpina3i |
C |
T |
12: 104,234,761 (GRCm39) |
T364I |
probably damaging |
Het |
Shprh |
A |
G |
10: 11,030,509 (GRCm39) |
K242R |
possibly damaging |
Het |
Slit3 |
A |
G |
11: 35,062,417 (GRCm39) |
N72S |
possibly damaging |
Het |
Syt17 |
G |
A |
7: 118,009,143 (GRCm39) |
|
probably benign |
Het |
Tatdn3 |
C |
A |
1: 190,787,541 (GRCm39) |
A114S |
probably benign |
Het |
Tjp2 |
A |
G |
19: 24,091,469 (GRCm39) |
V564A |
probably damaging |
Het |
Tmem117 |
T |
C |
15: 94,777,253 (GRCm39) |
|
probably benign |
Het |
Tnfrsf8 |
T |
C |
4: 144,995,703 (GRCm39) |
E452G |
probably damaging |
Het |
Tns1 |
T |
C |
1: 73,976,407 (GRCm39) |
D1147G |
probably damaging |
Het |
Traf6 |
T |
C |
2: 101,515,134 (GRCm39) |
S97P |
probably damaging |
Het |
Ttc28 |
A |
T |
5: 111,414,449 (GRCm39) |
E1321D |
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 |
IGL01141:Rspry1
|
APN |
8 |
95,376,483 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
2015-12-18 |