Incidental Mutation 'IGL00158:Rspry1'
ID |
27964 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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: 0.361)
|
Stock # |
IGL00158
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
95328569-95386905 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 95349608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148724
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060389]
[ENSMUST00000121101]
[ENSMUST00000211983]
[ENSMUST00000212729]
|
AlphaFold |
Q8BVR6 |
Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000121101
|
SMART Domains |
Protein: ENSMUSP00000112482 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211983
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212729
|
Coding Region Coverage |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
T |
A |
18: 10,647,869 (GRCm39) |
D300V |
possibly damaging |
Het |
Agap1 |
A |
G |
1: 89,591,518 (GRCm39) |
|
probably benign |
Het |
Best3 |
A |
G |
10: 116,840,446 (GRCm39) |
|
probably benign |
Het |
Cfap43 |
T |
G |
19: 47,818,914 (GRCm39) |
I125L |
probably benign |
Het |
Cntn1 |
A |
G |
15: 92,148,758 (GRCm39) |
E335G |
possibly damaging |
Het |
Csmd3 |
A |
T |
15: 48,150,891 (GRCm39) |
S396T |
possibly damaging |
Het |
Cxxc5 |
T |
G |
18: 35,993,745 (GRCm39) |
*318G |
probably null |
Het |
Dpep3 |
T |
C |
8: 106,705,779 (GRCm39) |
T49A |
probably benign |
Het |
Elf1 |
T |
A |
14: 79,817,789 (GRCm39) |
M436K |
possibly damaging |
Het |
Ephx2 |
T |
G |
14: 66,330,286 (GRCm39) |
I310L |
probably benign |
Het |
Fancm |
A |
G |
12: 65,122,510 (GRCm39) |
T11A |
possibly damaging |
Het |
Ganab |
G |
T |
19: 8,879,959 (GRCm39) |
A73S |
probably benign |
Het |
Glp1r |
T |
G |
17: 31,120,891 (GRCm39) |
L14R |
possibly damaging |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Krtap9-1 |
C |
T |
11: 99,764,680 (GRCm39) |
P139S |
unknown |
Het |
L2hgdh |
T |
C |
12: 69,748,208 (GRCm39) |
D306G |
possibly damaging |
Het |
Liat1 |
T |
C |
11: 75,894,192 (GRCm39) |
S190P |
probably benign |
Het |
Lrriq4 |
A |
G |
3: 30,705,104 (GRCm39) |
|
probably null |
Het |
Mbd3 |
T |
G |
10: 80,229,717 (GRCm39) |
|
probably benign |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mug1 |
T |
C |
6: 121,842,768 (GRCm39) |
S585P |
probably damaging |
Het |
Nat8f4 |
C |
A |
6: 85,877,969 (GRCm39) |
A185S |
probably benign |
Het |
Nlrc5 |
C |
T |
8: 95,228,839 (GRCm39) |
|
probably benign |
Het |
Or8b12 |
T |
A |
9: 37,657,685 (GRCm39) |
I85N |
possibly damaging |
Het |
Or8g23 |
T |
A |
9: 38,971,159 (GRCm39) |
M268L |
probably benign |
Het |
Peg3 |
T |
A |
7: 6,713,273 (GRCm39) |
I650F |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,213,279 (GRCm39) |
N142K |
probably damaging |
Het |
Qser1 |
T |
A |
2: 104,596,401 (GRCm39) |
D1537V |
probably damaging |
Het |
Rbm44 |
T |
A |
1: 91,084,831 (GRCm39) |
D684E |
probably benign |
Het |
Rnf19a |
A |
C |
15: 36,265,948 (GRCm39) |
S50A |
probably damaging |
Het |
Rnf31 |
A |
G |
14: 55,829,776 (GRCm39) |
|
probably null |
Het |
Sap130 |
C |
A |
18: 31,831,819 (GRCm39) |
P769T |
probably benign |
Het |
Slc22a16 |
T |
A |
10: 40,471,278 (GRCm39) |
M483K |
probably damaging |
Het |
Slc27a1 |
T |
C |
8: 72,037,416 (GRCm39) |
|
probably null |
Het |
Slc35a5 |
A |
T |
16: 44,972,971 (GRCm39) |
C65* |
probably null |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Ubqlnl |
T |
C |
7: 103,798,372 (GRCm39) |
E375G |
probably benign |
Het |
Uggt2 |
G |
A |
14: 119,286,688 (GRCm39) |
T692I |
possibly damaging |
Het |
Vmn1r211 |
A |
T |
13: 23,036,272 (GRCm39) |
C132S |
probably benign |
Het |
Vmn2r61 |
A |
T |
7: 41,950,175 (GRCm39) |
N865I |
possibly damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,506,795 (GRCm39) |
M839K |
|
Het |
Xrn2 |
T |
A |
2: 146,878,670 (GRCm39) |
S455R |
probably benign |
Het |
Zan |
T |
A |
5: 137,452,519 (GRCm39) |
T1521S |
unknown |
Het |
Zfp326 |
A |
G |
5: 106,054,911 (GRCm39) |
M361V |
possibly damaging |
Het |
Zfp472 |
A |
G |
17: 33,196,498 (GRCm39) |
Y191C |
possibly damaging |
Het |
|
Other mutations in Rspry1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-04-17 |