Incidental Mutation 'R3624:Rspry1'
| ID |
269328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rspry1
|
| Ensembl Gene |
ENSMUSG00000050079 |
| Gene Name |
ring finger and SPRY domain containing 1 |
| Synonyms |
4930470D19Rik |
| MMRRC Submission |
040678-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.456)
|
| Stock # |
R3624 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
94601937-94660275 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94649777 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 309
(D309G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060389]
[ENSMUST00000211983]
[ENSMUST00000212729]
|
| AlphaFold |
Q8BVR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060389
AA Change: D433G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: D433G
| 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 damaging
Transcript: ENSMUST00000211983
AA Change: D433G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212729
AA Change: D309G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9390 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
A |
G |
11: 7,130,348 (GRCm38) |
T364A |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,642,531 (GRCm38) |
T905A |
probably damaging |
Het |
| Akap9 |
C |
A |
5: 3,976,235 (GRCm38) |
Q1297K |
possibly damaging |
Het |
| Ankrd53 |
A |
G |
6: 83,763,262 (GRCm38) |
E104G |
possibly damaging |
Het |
| Anks1 |
T |
C |
17: 27,986,288 (GRCm38) |
F274L |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,981,086 (GRCm38) |
T668A |
probably benign |
Het |
| Coch |
A |
G |
12: 51,602,826 (GRCm38) |
I307V |
probably benign |
Het |
| Colec11 |
T |
C |
12: 28,594,908 (GRCm38) |
M196V |
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,070,244 (GRCm38) |
I248T |
probably benign |
Het |
| D17H6S53E |
A |
G |
17: 35,127,536 (GRCm38) |
E141G |
probably benign |
Het |
| Dffb |
T |
C |
4: 153,965,519 (GRCm38) |
T296A |
probably damaging |
Het |
| Dock8 |
A |
G |
19: 25,079,877 (GRCm38) |
Q216R |
probably benign |
Het |
| Emilin3 |
T |
C |
2: 160,908,257 (GRCm38) |
D477G |
possibly damaging |
Het |
| Esp4 |
A |
G |
17: 40,602,593 (GRCm38) |
K117R |
unknown |
Het |
| Fam186b |
A |
G |
15: 99,280,515 (GRCm38) |
L310S |
probably benign |
Het |
| Fam208b |
T |
C |
13: 3,595,556 (GRCm38) |
T98A |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,022,334 (GRCm38) |
|
probably null |
Het |
| H2-T3 |
T |
C |
17: 36,190,065 (GRCm38) |
T20A |
possibly damaging |
Het |
| Htr1d |
T |
C |
4: 136,443,504 (GRCm38) |
I348T |
probably damaging |
Het |
| Hyal4 |
A |
T |
6: 24,765,738 (GRCm38) |
S364C |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,724,960 (GRCm38) |
Q16L |
probably benign |
Het |
| Ikbkap |
C |
T |
4: 56,798,708 (GRCm38) |
V85M |
possibly damaging |
Het |
| Irs2 |
C |
T |
8: 11,007,643 (GRCm38) |
G263D |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,914,743 (GRCm38) |
Y38H |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,965,595 (GRCm38) |
V35A |
probably damaging |
Het |
| Klhl14 |
A |
T |
18: 21,557,896 (GRCm38) |
V499D |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,842,902 (GRCm38) |
|
probably benign |
Het |
| Loxl4 |
A |
G |
19: 42,607,576 (GRCm38) |
V146A |
probably benign |
Het |
| Met |
A |
T |
6: 17,549,086 (GRCm38) |
D979V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,941,764 (GRCm38) |
T1702A |
probably damaging |
Het |
| Midn |
A |
G |
10: 80,150,310 (GRCm38) |
D78G |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,268,395 (GRCm38) |
C339Y |
probably damaging |
Het |
| Mog |
T |
C |
17: 37,012,446 (GRCm38) |
H200R |
possibly damaging |
Het |
| Nadk2 |
T |
A |
15: 9,084,223 (GRCm38) |
W139R |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 25,662,819 (GRCm38) |
T392A |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 63,061,691 (GRCm38) |
L57P |
probably damaging |
Het |
| Racgap1 |
T |
A |
15: 99,642,891 (GRCm38) |
N26I |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,579,904 (GRCm38) |
|
probably benign |
Het |
| Sgcz |
T |
C |
8: 37,953,047 (GRCm38) |
E17G |
probably damaging |
Het |
| Slc16a10 |
A |
G |
10: 40,141,894 (GRCm38) |
V48A |
probably benign |
Het |
| Smad1 |
A |
G |
8: 79,339,698 (GRCm38) |
V450A |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,789,284 (GRCm38) |
R257W |
probably damaging |
Het |
| Snrpb |
C |
A |
2: 130,175,379 (GRCm38) |
R73L |
probably null |
Het |
| Spag11a |
A |
G |
8: 19,159,401 (GRCm38) |
D69G |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,140,593 (GRCm38) |
H559R |
probably damaging |
Het |
| Strn3 |
T |
C |
12: 51,661,216 (GRCm38) |
Y132C |
possibly damaging |
Het |
| Tgm6 |
T |
A |
2: 130,151,761 (GRCm38) |
V640E |
possibly damaging |
Het |
| Trim54 |
G |
A |
5: 31,136,976 (GRCm38) |
V319M |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 64,244,853 (GRCm38) |
Y951C |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 59,272,112 (GRCm38) |
N77K |
probably damaging |
Het |
| Uhrf1 |
C |
T |
17: 56,317,023 (GRCm38) |
T482I |
probably damaging |
Het |
| Veph1 |
C |
T |
3: 66,215,437 (GRCm38) |
V224I |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,435,452 (GRCm38) |
F132I |
probably benign |
Het |
| Vmn1r88 |
A |
C |
7: 13,177,863 (GRCm38) |
M49L |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,816,038 (GRCm38) |
R775G |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,749,328 (GRCm38) |
F474I |
probably benign |
Het |
| Zkscan8 |
C |
T |
13: 21,520,776 (GRCm38) |
R259Q |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCGAGAAGCAAATCAGC -3'
(R):5'- GAGGTCAGATCAAATGGAGCTCTAG -3'
Sequencing Primer
(F):5'- GGCTTGTCATAGTTTAAATGGAAGC -3'
(R):5'- AGATCAAATGGAGCTCTAGTTAATTG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation