Incidental Mutation 'R8715:Rspry1'
| ID |
669824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rspry1
|
| Ensembl Gene |
ENSMUSG00000050079 |
| Gene Name |
ring finger and SPRY domain containing 1 |
| Synonyms |
4930470D19Rik |
| MMRRC Submission |
068613-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.456)
|
| Stock # |
R8715 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
94601937-94660275 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94623260 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 92
(E92G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060389]
[ENSMUST00000121101]
[ENSMUST00000211983]
[ENSMUST00000212729]
|
| AlphaFold |
Q8BVR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060389
AA Change: E92G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: E92G
| 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 |
probably damaging
Transcript: ENSMUST00000121101
AA Change: E92G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112482
Gene: ENSMUSG00000050079
AA Change: E92G
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211983
AA Change: E92G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212729
|
| Meta Mutation Damage Score |
0.0954 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (50/50) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810041L15Rik |
A |
C |
15: 84,417,145 (GRCm38) |
V99G |
probably damaging |
Het |
| Abcb1b |
A |
T |
5: 8,812,750 (GRCm38) |
H144L |
probably benign |
Het |
| Adam25 |
A |
G |
8: 40,754,062 (GRCm38) |
N122D |
probably benign |
Het |
| Armc10 |
T |
C |
5: 21,653,518 (GRCm38) |
F187S |
possibly damaging |
Het |
| Best3 |
T |
A |
10: 116,993,066 (GRCm38) |
F84I |
probably damaging |
Het |
| Card11 |
A |
T |
5: 140,885,560 (GRCm38) |
D729E |
probably benign |
Het |
| Ccdc60 |
A |
T |
5: 116,190,094 (GRCm38) |
F104I |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,855,845 (GRCm38) |
E278G |
probably damaging |
Het |
| Cd209d |
CAT |
C |
8: 3,873,772 (GRCm38) |
|
probably null |
Het |
| Cdhr4 |
G |
A |
9: 107,997,397 (GRCm38) |
V9M |
|
Het |
| Cfap46 |
T |
C |
7: 139,605,644 (GRCm38) |
T41A |
|
Het |
| Cyp2c66 |
A |
G |
19: 39,170,944 (GRCm38) |
T280A |
probably benign |
Het |
| Dis3l |
C |
T |
9: 64,307,060 (GRCm38) |
D1049N |
probably benign |
Het |
| Dlc1 |
T |
A |
8: 36,938,641 (GRCm38) |
|
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,374,473 (GRCm38) |
T526A |
probably benign |
Het |
| Fam214b |
A |
G |
4: 43,033,944 (GRCm38) |
V444A |
possibly damaging |
Het |
| Gimap6 |
A |
T |
6: 48,702,618 (GRCm38) |
D161E |
probably damaging |
Het |
| Gmpr |
T |
C |
13: 45,542,626 (GRCm38) |
V282A |
possibly damaging |
Het |
| Gsap |
A |
G |
5: 21,226,247 (GRCm38) |
I190V |
possibly damaging |
Het |
| Gucy2d |
C |
T |
7: 98,444,112 (GRCm38) |
T232I |
probably benign |
Het |
| Lgals4 |
C |
T |
7: 28,841,496 (GRCm38) |
R282C |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,560,621 (GRCm38) |
S2358I |
possibly damaging |
Het |
| Lrrc74a |
A |
G |
12: 86,758,465 (GRCm38) |
N354D |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 66,868,752 (GRCm38) |
E112G |
probably damaging |
Het |
| Msh6 |
C |
T |
17: 87,985,767 (GRCm38) |
T650I |
probably benign |
Het |
| Mst1 |
T |
C |
9: 108,082,043 (GRCm38) |
V203A |
possibly damaging |
Het |
| Muc1 |
G |
A |
3: 89,231,514 (GRCm38) |
V477M |
possibly damaging |
Het |
| Naa11 |
A |
G |
5: 97,392,207 (GRCm38) |
Y31H |
probably damaging |
Het |
| Nphp1 |
G |
T |
2: 127,763,809 (GRCm38) |
H365Q |
possibly damaging |
Het |
| Olfr1025-ps1 |
G |
A |
2: 85,917,929 (GRCm38) |
M1I |
probably null |
Het |
| Olfr1390 |
A |
T |
11: 49,341,327 (GRCm38) |
Y265F |
probably damaging |
Het |
| Olfr409-ps1 |
T |
A |
11: 74,317,160 (GRCm38) |
I45N |
probably damaging |
Het |
| Osbpl9 |
A |
G |
4: 109,102,576 (GRCm38) |
F15S |
probably benign |
Het |
| Pcdha12 |
A |
C |
18: 37,020,470 (GRCm38) |
N81H |
probably damaging |
Het |
| Pde4d |
A |
G |
13: 109,935,342 (GRCm38) |
Q290R |
probably benign |
Het |
| Pla1a |
A |
T |
16: 38,409,638 (GRCm38) |
N237K |
probably damaging |
Het |
| Podnl1 |
T |
C |
8: 84,129,327 (GRCm38) |
Y239H |
|
Het |
| Pou4f3 |
G |
T |
18: 42,395,528 (GRCm38) |
D179Y |
possibly damaging |
Het |
| Ptch2 |
T |
C |
4: 117,111,522 (GRCm38) |
V995A |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 161,530,543 (GRCm38) |
C1403Y |
probably damaging |
Het |
| Rab7 |
T |
C |
6: 88,012,387 (GRCm38) |
S34G |
probably damaging |
Het |
| Sdccag8 |
T |
A |
1: 176,946,237 (GRCm38) |
|
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,780,902 (GRCm38) |
T2140M |
probably damaging |
Het |
| Serpina1e |
T |
C |
12: 103,950,918 (GRCm38) |
N164S |
probably benign |
Het |
| Tdrkh |
T |
C |
3: 94,424,661 (GRCm38) |
V131A |
probably damaging |
Het |
| Tm9sf3 |
T |
A |
19: 41,256,285 (GRCm38) |
N51I |
probably damaging |
Het |
| Trav4-3 |
A |
G |
14: 53,599,305 (GRCm38) |
N76D |
possibly damaging |
Het |
| Trhr2 |
T |
A |
8: 122,358,880 (GRCm38) |
I122F |
probably damaging |
Het |
| Tyw1 |
G |
A |
5: 130,269,224 (GRCm38) |
R202Q |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,393,660 (GRCm38) |
|
probably benign |
Het |
| Zfp663 |
T |
C |
2: 165,352,724 (GRCm38) |
E525G |
probably damaging |
Het |
| Zfp976 |
C |
T |
7: 42,613,445 (GRCm38) |
E324K |
possibly damaging |
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 |
|
IGL01141:Rspry1
|
APN |
8 |
94,649,855 (GRCm38) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACATAGCCCACCTATTGG -3'
(R):5'- CTCTCTTGGCCTATGAGCACAAG -3'
Sequencing Primer
(F):5'- CACCTATTGGGGACTACAGGTG -3'
(R):5'- GCACAAGGCTTGGAAAATATATCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation