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: 0.361)
|
| Stock # |
R3624 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95328569-95386905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95376405 bp (GRCm39)
|
| 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: 7,080,348 (GRCm39) |
T364A |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,790,650 (GRCm39) |
T905A |
probably damaging |
Het |
| Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
| Ankrd53 |
A |
G |
6: 83,740,244 (GRCm39) |
E104G |
possibly damaging |
Het |
| Anks1 |
T |
C |
17: 28,205,262 (GRCm39) |
F274L |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,958,486 (GRCm39) |
T668A |
probably benign |
Het |
| Coch |
A |
G |
12: 51,649,609 (GRCm39) |
I307V |
probably benign |
Het |
| Colec11 |
T |
C |
12: 28,644,907 (GRCm39) |
M196V |
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,058,688 (GRCm39) |
I248T |
probably benign |
Het |
| D17H6S53E |
A |
G |
17: 35,346,512 (GRCm39) |
E141G |
probably benign |
Het |
| Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
| Dock8 |
A |
G |
19: 25,057,241 (GRCm39) |
Q216R |
probably benign |
Het |
| Elp1 |
C |
T |
4: 56,798,708 (GRCm39) |
V85M |
possibly damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,177 (GRCm39) |
D477G |
possibly damaging |
Het |
| Esp4 |
A |
G |
17: 40,913,484 (GRCm39) |
K117R |
unknown |
Het |
| Fam186b |
A |
G |
15: 99,178,396 (GRCm39) |
L310S |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
T |
C |
17: 36,500,957 (GRCm39) |
T20A |
possibly damaging |
Het |
| Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
| Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
| Irs2 |
C |
T |
8: 11,057,643 (GRCm39) |
G263D |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,636,700 (GRCm39) |
Y38H |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,849,798 (GRCm39) |
V35A |
probably damaging |
Het |
| Klhl14 |
A |
T |
18: 21,690,953 (GRCm39) |
V499D |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,740,783 (GRCm39) |
|
probably benign |
Het |
| Loxl4 |
A |
G |
19: 42,596,015 (GRCm39) |
V146A |
probably benign |
Het |
| Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,772,245 (GRCm39) |
T1702A |
probably damaging |
Het |
| Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,315,169 (GRCm39) |
C339Y |
probably damaging |
Het |
| Mog |
T |
C |
17: 37,323,338 (GRCm39) |
H200R |
possibly damaging |
Het |
| Nadk2 |
T |
A |
15: 9,084,303 (GRCm39) |
W139R |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,152,835 (GRCm39) |
T392A |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,897,470 (GRCm39) |
L57P |
probably damaging |
Het |
| Racgap1 |
T |
A |
15: 99,540,772 (GRCm39) |
N26I |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Sgcz |
T |
C |
8: 38,420,201 (GRCm39) |
E17G |
probably damaging |
Het |
| Slc16a10 |
A |
G |
10: 40,017,890 (GRCm39) |
V48A |
probably benign |
Het |
| Smad1 |
A |
G |
8: 80,066,327 (GRCm39) |
V450A |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
| Snrpb |
C |
A |
2: 130,017,299 (GRCm39) |
R73L |
probably null |
Het |
| Spag11a |
A |
G |
8: 19,209,417 (GRCm39) |
D69G |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,090,593 (GRCm39) |
H559R |
probably damaging |
Het |
| Strn3 |
T |
C |
12: 51,707,999 (GRCm39) |
Y132C |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,645,556 (GRCm39) |
T98A |
probably benign |
Het |
| Tgm6 |
T |
A |
2: 129,993,681 (GRCm39) |
V640E |
possibly damaging |
Het |
| Trim54 |
G |
A |
5: 31,294,320 (GRCm39) |
V319M |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,894,601 (GRCm39) |
Y951C |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,921,860 (GRCm39) |
N77K |
probably damaging |
Het |
| Uhrf1 |
C |
T |
17: 56,624,023 (GRCm39) |
T482I |
probably damaging |
Het |
| Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
| Vmn1r88 |
A |
C |
7: 12,911,790 (GRCm39) |
M49L |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,792,997 (GRCm39) |
R775G |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,448,753 (GRCm39) |
F474I |
probably benign |
Het |
| Zkscan8 |
C |
T |
13: 21,704,946 (GRCm39) |
R259Q |
probably damaging |
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 |
|
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 |
|
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 |
|
| 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