Incidental Mutation 'R8869:Rspry1'
| ID |
676142 |
| Institutional Source |
Beutler Lab
|
| 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: 0.379)
|
| Stock # |
R8869 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95328569-95386905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 95359780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 230
(L230F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060389]
[ENSMUST00000211983]
[ENSMUST00000212729]
|
| AlphaFold |
Q8BVR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060389
AA Change: L230F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: L230F
| 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: ENSMUST00000211983
AA Change: L230F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212729
AA Change: L106F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
G |
A |
19: 55,266,523 (GRCm39) |
R114Q |
possibly damaging |
Het |
| Atp1a4 |
C |
T |
1: 172,054,690 (GRCm39) |
V980I |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,013,007 (GRCm39) |
C1895S |
probably damaging |
Het |
| Brd1 |
A |
T |
15: 88,614,729 (GRCm39) |
D55E |
probably benign |
Het |
| Cachd1 |
A |
G |
4: 100,809,280 (GRCm39) |
D255G |
probably benign |
Het |
| Ccdc168 |
A |
T |
1: 44,097,425 (GRCm39) |
D1224E |
possibly damaging |
Het |
| Ces2f |
C |
A |
8: 105,676,704 (GRCm39) |
P133T |
probably damaging |
Het |
| Cfap251 |
A |
T |
5: 123,460,505 (GRCm39) |
M1156L |
possibly damaging |
Het |
| Clock |
GGCTGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTGCTG |
5: 76,374,889 (GRCm39) |
|
probably benign |
Het |
| Cyp4f37 |
A |
T |
17: 32,844,096 (GRCm39) |
I67F |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,448,656 (GRCm39) |
I84V |
|
Het |
| Dcc |
T |
C |
18: 71,511,755 (GRCm39) |
T887A |
probably benign |
Het |
| Dhdh |
G |
T |
7: 45,137,536 (GRCm39) |
N50K |
probably benign |
Het |
| Dnah7c |
A |
T |
1: 46,671,504 (GRCm39) |
E1631V |
probably damaging |
Het |
| Dusp23 |
A |
G |
1: 172,460,293 (GRCm39) |
C53R |
possibly damaging |
Het |
| Efcab6 |
G |
A |
15: 83,928,432 (GRCm39) |
S54L |
probably damaging |
Het |
| Fcamr |
T |
C |
1: 130,739,335 (GRCm39) |
F212L |
probably damaging |
Het |
| Gfap |
G |
C |
11: 102,787,810 (GRCm39) |
A45G |
probably benign |
Het |
| Grm8 |
C |
T |
6: 27,363,752 (GRCm39) |
V588M |
probably benign |
Het |
| H1f8 |
A |
G |
6: 115,926,911 (GRCm39) |
T263A |
probably benign |
Het |
| Hoatz |
T |
A |
9: 50,992,832 (GRCm39) |
|
probably null |
Het |
| Inhca |
T |
C |
9: 103,149,831 (GRCm39) |
Y242C |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,570,368 (GRCm39) |
|
probably null |
Het |
| Mxi1 |
G |
A |
19: 53,360,126 (GRCm39) |
G283S |
probably damaging |
Het |
| Myh15 |
T |
C |
16: 48,997,366 (GRCm39) |
V1728A |
probably benign |
Het |
| Nxph2 |
T |
A |
2: 23,290,071 (GRCm39) |
V141D |
probably damaging |
Het |
| Or11l3 |
T |
C |
11: 58,515,994 (GRCm39) |
E106G |
unknown |
Het |
| Or2t26 |
A |
T |
11: 49,039,483 (GRCm39) |
Y133F |
probably damaging |
Het |
| Or4f6 |
A |
T |
2: 111,838,596 (GRCm39) |
S312T |
possibly damaging |
Het |
| Or5b121 |
A |
T |
19: 13,507,892 (GRCm39) |
N329I |
probably damaging |
Het |
| Or5d36 |
T |
A |
2: 87,901,753 (GRCm39) |
|
probably null |
Het |
| Or5h25 |
A |
G |
16: 58,930,121 (GRCm39) |
V284A |
|
Het |
| Or5w10 |
A |
T |
2: 87,375,753 (GRCm39) |
M45K |
probably damaging |
Het |
| Or8c10 |
A |
G |
9: 38,279,142 (GRCm39) |
N90S |
possibly damaging |
Het |
| Otof |
T |
A |
5: 30,578,325 (GRCm39) |
I108F |
probably benign |
Het |
| Pcdha4 |
A |
T |
18: 37,086,011 (GRCm39) |
R65* |
probably null |
Het |
| Pde11a |
T |
C |
2: 76,041,434 (GRCm39) |
H412R |
probably benign |
Het |
| Peli3 |
C |
T |
19: 4,982,541 (GRCm39) |
G375S |
probably damaging |
Het |
| Ppp6r3 |
A |
G |
19: 3,561,927 (GRCm39) |
|
probably null |
Het |
| Prcp |
T |
C |
7: 92,559,518 (GRCm39) |
V194A |
possibly damaging |
Het |
| Prkce |
T |
C |
17: 86,476,370 (GRCm39) |
|
probably null |
Het |
| Prss23 |
A |
T |
7: 89,159,887 (GRCm39) |
S61T |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,535,469 (GRCm39) |
R432H |
probably damaging |
Het |
| Rnase2a |
T |
A |
14: 51,493,101 (GRCm39) |
N88I |
possibly damaging |
Het |
| Slco1a8 |
A |
G |
6: 141,927,810 (GRCm39) |
V548A |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,365,301 (GRCm39) |
L65P |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,933,722 (GRCm39) |
Y1083H |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,986,386 (GRCm39) |
S241P |
probably damaging |
Het |
| Tmed6 |
A |
C |
8: 107,792,164 (GRCm39) |
L27R |
probably damaging |
Het |
| Tmem52 |
G |
A |
4: 155,553,788 (GRCm39) |
C32Y |
probably damaging |
Het |
| Tmprss15 |
C |
A |
16: 78,750,834 (GRCm39) |
G1022* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,730,345 (GRCm39) |
S5085G |
unknown |
Het |
| Vmn2r37 |
C |
T |
7: 9,209,854 (GRCm39) |
V553M |
possibly damaging |
Het |
| Wdr70 |
A |
T |
15: 8,123,210 (GRCm39) |
M42K |
probably benign |
Het |
| Zfp735 |
T |
A |
11: 73,602,510 (GRCm39) |
C485S |
possibly 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 |
|
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 |
|
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'- GTCTCTTTATGGTGAACTCAGTTGC -3'
(R):5'- TTTCTGTCTCTAAACATAGGCGG -3'
Sequencing Primer
(F):5'- TGGTGAACTCAGTTGCTACAC -3'
(R):5'- CATAGGCGGTGTTAAATAAAAACCC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation