Incidental Mutation 'R5653:Rspry1'
ID |
442112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rspry1
|
Ensembl Gene |
ENSMUSG00000050079 |
Gene Name |
ring finger and SPRY domain containing 1 |
Synonyms |
4930470D19Rik |
MMRRC Submission |
043299-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.361)
|
Stock # |
R5653 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
95328569-95386905 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 95363239 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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
T |
C |
5: 36,040,756 (GRCm39) |
L663P |
probably damaging |
Het |
Atp10d |
A |
T |
5: 72,421,410 (GRCm39) |
Q682L |
probably benign |
Het |
Atp8b1 |
A |
G |
18: 64,678,268 (GRCm39) |
V876A |
probably damaging |
Het |
Bard1 |
A |
T |
1: 71,070,588 (GRCm39) |
V632E |
probably benign |
Het |
Baz1b |
A |
T |
5: 135,237,951 (GRCm39) |
E209V |
probably benign |
Het |
Bmp1 |
T |
A |
14: 70,727,534 (GRCm39) |
Y683F |
probably benign |
Het |
Cacnb1 |
A |
T |
11: 97,900,105 (GRCm39) |
|
probably null |
Het |
Capza2 |
G |
A |
6: 17,654,112 (GRCm39) |
A55T |
probably damaging |
Het |
Cc2d2a |
A |
G |
5: 43,879,804 (GRCm39) |
N1127S |
possibly damaging |
Het |
Ccdc13 |
A |
G |
9: 121,627,853 (GRCm39) |
*255R |
probably null |
Het |
Ddias |
G |
T |
7: 92,507,937 (GRCm39) |
N659K |
probably damaging |
Het |
Ddr1 |
C |
T |
17: 35,997,400 (GRCm39) |
A531T |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,740,806 (GRCm39) |
T4127A |
probably damaging |
Het |
Dnajc10 |
T |
A |
2: 80,179,712 (GRCm39) |
Y749N |
probably damaging |
Het |
Dnm1l |
A |
G |
16: 16,137,353 (GRCm39) |
L422P |
probably damaging |
Het |
Edil3 |
A |
T |
13: 89,279,931 (GRCm39) |
N203I |
probably damaging |
Het |
Egfr |
C |
T |
11: 16,861,617 (GRCm39) |
A1132V |
probably benign |
Het |
Entpd7 |
C |
T |
19: 43,679,596 (GRCm39) |
R50* |
probably null |
Het |
Fat2 |
T |
C |
11: 55,201,142 (GRCm39) |
D644G |
probably damaging |
Het |
Fhip1a |
A |
T |
3: 85,629,808 (GRCm39) |
L40Q |
probably damaging |
Het |
Galnt11 |
T |
A |
5: 25,453,856 (GRCm39) |
D27E |
probably damaging |
Het |
Gm10801 |
T |
A |
2: 98,494,396 (GRCm39) |
F158I |
probably damaging |
Het |
Gm37240 |
A |
G |
3: 84,405,102 (GRCm39) |
F234L |
probably damaging |
Het |
Gtf2ird1 |
A |
T |
5: 134,439,821 (GRCm39) |
F136L |
probably damaging |
Het |
Hspa1l |
T |
C |
17: 35,196,396 (GRCm39) |
V145A |
probably damaging |
Het |
Ice2 |
A |
G |
9: 69,335,662 (GRCm39) |
T882A |
probably benign |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kat6b |
A |
G |
14: 21,719,440 (GRCm39) |
N1264S |
probably benign |
Het |
Kcnq4 |
C |
A |
4: 120,559,608 (GRCm39) |
V531L |
probably benign |
Het |
Kif9 |
A |
T |
9: 110,353,999 (GRCm39) |
K790N |
probably damaging |
Het |
Lipe |
T |
A |
7: 25,097,833 (GRCm39) |
I37L |
probably benign |
Het |
Lrrc43 |
A |
G |
5: 123,637,643 (GRCm39) |
D270G |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,861,999 (GRCm39) |
Y782H |
probably damaging |
Het |
Mrpl52 |
T |
C |
14: 54,664,686 (GRCm39) |
S49P |
probably damaging |
Het |
Or2ak5 |
G |
A |
11: 58,611,077 (GRCm39) |
H266Y |
probably damaging |
Het |
Or2h15 |
T |
A |
17: 38,442,075 (GRCm39) |
T3S |
possibly damaging |
Het |
Or5k14 |
A |
G |
16: 58,692,847 (GRCm39) |
L222P |
probably damaging |
Het |
Or5p56 |
A |
T |
7: 107,589,592 (GRCm39) |
T7S |
probably benign |
Het |
Pcbp2 |
C |
T |
15: 102,395,524 (GRCm39) |
A141V |
probably damaging |
Het |
Pcsk9 |
T |
A |
4: 106,316,113 (GRCm39) |
Y110F |
probably damaging |
Het |
Plxna4 |
A |
G |
6: 32,494,551 (GRCm39) |
S22P |
possibly damaging |
Het |
Polq |
T |
A |
16: 36,860,896 (GRCm39) |
L506Q |
probably damaging |
Het |
Prkn |
C |
T |
17: 11,456,536 (GRCm39) |
A119V |
probably damaging |
Het |
Prx |
C |
T |
7: 27,217,029 (GRCm39) |
P510L |
probably damaging |
Het |
Ptpre |
T |
C |
7: 135,255,672 (GRCm39) |
F54L |
probably damaging |
Het |
Tnfrsf11b |
A |
T |
15: 54,123,262 (GRCm39) |
L113Q |
probably damaging |
Het |
Tnk1 |
C |
T |
11: 69,744,411 (GRCm39) |
G411S |
probably damaging |
Het |
Tor3a |
A |
G |
1: 156,484,080 (GRCm39) |
L290S |
probably damaging |
Het |
Tril |
T |
C |
6: 53,794,970 (GRCm39) |
T751A |
probably benign |
Het |
Tubgcp6 |
C |
T |
15: 88,992,815 (GRCm39) |
V547I |
possibly damaging |
Het |
Txnrd3 |
T |
C |
6: 89,631,067 (GRCm39) |
L121P |
probably benign |
Het |
Vmn1r210 |
T |
A |
13: 23,011,378 (GRCm39) |
R303* |
probably null |
Het |
Vmn2r38 |
T |
C |
7: 9,100,764 (GRCm39) |
M1V |
probably null |
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 |
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'- GCATTGAGATTGCCAGACAG -3'
(R):5'- AAGGTGCCTGGGATACTTTTCTATTAG -3'
Sequencing Primer
(F):5'- CCAGACAGTAGCTACAGTTCTTTGG -3'
(R):5'- GCGCTTGTCTAATGAGCTGAAACC -3'
|
Posted On |
2016-11-09 |