Incidental Mutation 'R5517:Rspry1'
ID |
431353 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rspry1
|
Ensembl Gene |
ENSMUSG00000050079 |
Gene Name |
ring finger and SPRY domain containing 1 |
Synonyms |
4930470D19Rik |
MMRRC Submission |
043076-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.361)
|
Stock # |
R5517 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
95328569-95386905 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 95363388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148724
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060389]
[ENSMUST00000211983]
[ENSMUST00000212729]
|
AlphaFold |
Q8BVR6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000060389
|
SMART Domains |
Protein: ENSMUSP00000057275 Gene: ENSMUSG00000050079
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: ENSMUST00000154035
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211983
|
Predicted Effect |
probably null
Transcript: ENSMUST00000212729
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.5%
|
Validation Efficiency |
99% (67/68) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
C |
T |
17: 36,269,233 (GRCm39) |
R675K |
possibly damaging |
Het |
Aire |
A |
T |
10: 77,875,525 (GRCm39) |
S282T |
probably benign |
Het |
Ak9 |
A |
G |
10: 41,216,887 (GRCm39) |
E283G |
probably benign |
Het |
Akap9 |
T |
A |
5: 4,051,665 (GRCm39) |
D1477E |
possibly damaging |
Het |
Ap2a1 |
T |
C |
7: 44,556,405 (GRCm39) |
D273G |
possibly damaging |
Het |
Apob |
T |
C |
12: 8,040,906 (GRCm39) |
L664P |
probably damaging |
Het |
Arhgap35 |
A |
T |
7: 16,297,414 (GRCm39) |
F550L |
probably damaging |
Het |
Armc2 |
T |
C |
10: 41,839,846 (GRCm39) |
E373G |
probably benign |
Het |
Atp8b2 |
C |
A |
3: 89,853,338 (GRCm39) |
A726S |
probably benign |
Het |
C030048H21Rik |
T |
A |
2: 26,145,899 (GRCm39) |
Q87L |
probably damaging |
Het |
Cd244a |
T |
A |
1: 171,405,542 (GRCm39) |
|
probably benign |
Het |
Cdk10 |
T |
A |
8: 123,957,326 (GRCm39) |
|
probably null |
Het |
Cenpe |
C |
A |
3: 134,929,026 (GRCm39) |
P310Q |
probably damaging |
Het |
Chuk |
T |
A |
19: 44,085,972 (GRCm39) |
|
probably null |
Het |
Crebl2 |
T |
C |
6: 134,828,139 (GRCm39) |
S104P |
probably benign |
Het |
Ddo |
A |
G |
10: 40,523,726 (GRCm39) |
K239E |
probably benign |
Het |
Defb5 |
A |
G |
8: 19,300,868 (GRCm39) |
|
probably null |
Het |
Dhx35 |
T |
A |
2: 158,676,832 (GRCm39) |
M422K |
probably damaging |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Gatm |
G |
A |
2: 122,426,024 (GRCm39) |
T409I |
probably damaging |
Het |
Gdpd1 |
A |
T |
11: 86,950,332 (GRCm39) |
D80E |
probably damaging |
Het |
Gspt1 |
C |
A |
16: 11,071,843 (GRCm39) |
G7C |
unknown |
Het |
Hells |
G |
A |
19: 38,943,244 (GRCm39) |
S516N |
probably benign |
Het |
Ints1 |
A |
G |
5: 139,738,542 (GRCm39) |
S2069P |
possibly damaging |
Het |
Kank4 |
G |
A |
4: 98,663,118 (GRCm39) |
T690M |
probably damaging |
Het |
Kcnq4 |
T |
C |
4: 120,573,006 (GRCm39) |
N265S |
possibly damaging |
Het |
Kif5b |
C |
A |
18: 6,220,954 (GRCm39) |
A385S |
probably benign |
Het |
Map2 |
T |
C |
1: 66,454,415 (GRCm39) |
S1102P |
probably benign |
Het |
Mcm7 |
A |
G |
5: 138,163,133 (GRCm39) |
S340P |
possibly damaging |
Het |
Mcrs1 |
C |
T |
15: 99,144,876 (GRCm39) |
R246H |
possibly damaging |
Het |
Myo16 |
T |
A |
8: 10,610,226 (GRCm39) |
M1189K |
probably benign |
Het |
Or4d2 |
A |
T |
11: 87,783,892 (GRCm39) |
I286N |
probably damaging |
Het |
Or4k52 |
G |
T |
2: 111,610,804 (GRCm39) |
M46I |
probably benign |
Het |
Or7g29 |
G |
A |
9: 19,287,063 (GRCm39) |
T38I |
probably damaging |
Het |
Otog |
A |
G |
7: 45,923,995 (GRCm39) |
N1118S |
probably damaging |
Het |
Pakap |
T |
C |
4: 57,855,987 (GRCm39) |
Y439H |
probably damaging |
Het |
Pcdhb7 |
G |
T |
18: 37,474,846 (GRCm39) |
|
probably benign |
Het |
Picalm |
C |
T |
7: 89,819,806 (GRCm39) |
T189I |
possibly damaging |
Het |
Ptx4 |
T |
A |
17: 25,343,760 (GRCm39) |
S337T |
possibly damaging |
Het |
Rad51ap2 |
C |
T |
12: 11,508,313 (GRCm39) |
S745L |
probably benign |
Het |
Scn5a |
T |
G |
9: 119,324,779 (GRCm39) |
I1350L |
probably damaging |
Het |
Sgk2 |
T |
C |
2: 162,839,755 (GRCm39) |
L121P |
probably damaging |
Het |
Slc17a1 |
A |
T |
13: 24,056,575 (GRCm39) |
|
probably benign |
Het |
Slc6a12 |
A |
G |
6: 121,331,298 (GRCm39) |
N183S |
probably benign |
Het |
Smg9 |
C |
A |
7: 24,114,338 (GRCm39) |
|
probably benign |
Het |
Spred1 |
G |
A |
2: 117,008,195 (GRCm39) |
S367N |
probably damaging |
Het |
Srpra |
T |
C |
9: 35,122,646 (GRCm39) |
V21A |
probably benign |
Het |
Taar2 |
A |
T |
10: 23,816,627 (GRCm39) |
I56F |
possibly damaging |
Het |
Taf1a |
T |
G |
1: 183,177,323 (GRCm39) |
L67R |
probably damaging |
Het |
Tbc1d10b |
C |
A |
7: 126,797,779 (GRCm39) |
R787S |
possibly damaging |
Het |
Topbp1 |
T |
A |
9: 103,213,313 (GRCm39) |
N1044K |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,232,871 (GRCm39) |
T886A |
probably benign |
Het |
Vmn2r26 |
A |
G |
6: 124,027,676 (GRCm39) |
D472G |
probably damaging |
Het |
Zyg11a |
T |
C |
4: 108,061,943 (GRCm39) |
N286S |
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 |
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'- TCCCTGGAAGGAAACATTGG -3'
(R):5'- TCATCTGAAAGGTGCCTGGG -3'
Sequencing Primer
(F):5'- GAAACATTGGTAGAAATTTAATCCCC -3'
(R):5'- AAAGGTGCCTGGGATACTTTTC -3'
|
Posted On |
2016-10-05 |