Incidental Mutation 'IGL03366:Rspry1'
| ID |
420084 |
| 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: 0.456)
|
| Stock # |
IGL03366
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
94601937-94660275 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 94650334 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 382
(I382L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060389]
[ENSMUST00000211983]
[ENSMUST00000212729]
|
| AlphaFold |
Q8BVR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060389
AA Change: I506L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: I506L
| 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 benign
Transcript: ENSMUST00000211983
AA Change: I506L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212729
AA Change: I382L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2a2 |
T |
A |
7: 141,629,273 (GRCm38) |
S793T |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,508,179 (GRCm38) |
D459G |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,457,151 (GRCm38) |
D704Y |
probably damaging |
Het |
| Cry2 |
A |
G |
2: 92,413,715 (GRCm38) |
I371T |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 107,005,433 (GRCm38) |
F384I |
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,356,957 (GRCm38) |
|
probably null |
Het |
| Hecw1 |
G |
T |
13: 14,377,797 (GRCm38) |
D72E |
probably damaging |
Het |
| Htt |
T |
A |
5: 34,907,580 (GRCm38) |
W3046R |
probably damaging |
Het |
| Hydin |
A |
T |
8: 110,267,363 (GRCm38) |
N10Y |
unknown |
Het |
| Ighv8-8 |
T |
A |
12: 115,294,140 (GRCm38) |
T94S |
probably benign |
Het |
| Igkv4-58 |
A |
G |
6: 69,500,554 (GRCm38) |
S20P |
probably damaging |
Het |
| Il4i1 |
T |
C |
7: 44,837,495 (GRCm38) |
|
probably benign |
Het |
| Kif13a |
A |
T |
13: 46,764,623 (GRCm38) |
S403T |
probably benign |
Het |
| Klhl40 |
T |
C |
9: 121,783,380 (GRCm38) |
L616P |
probably damaging |
Het |
| Krt7 |
T |
C |
15: 101,427,610 (GRCm38) |
L440P |
possibly damaging |
Het |
| Lpin1 |
A |
G |
12: 16,544,677 (GRCm38) |
L755P |
probably damaging |
Het |
| Magee2 |
C |
A |
X: 104,855,528 (GRCm38) |
E506* |
probably null |
Het |
| Mast3 |
G |
A |
8: 70,781,563 (GRCm38) |
R143* |
probably null |
Het |
| Med12 |
T |
A |
X: 101,278,089 (GRCm38) |
H459Q |
probably benign |
Het |
| Mmp3 |
T |
C |
9: 7,450,149 (GRCm38) |
S294P |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,648,082 (GRCm38) |
Y714C |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,183,523 (GRCm38) |
L662S |
probably damaging |
Het |
| Notch4 |
G |
T |
17: 34,572,568 (GRCm38) |
C567F |
probably damaging |
Het |
| Nprl3 |
A |
G |
11: 32,250,256 (GRCm38) |
I20T |
probably damaging |
Het |
| Olfr1123 |
A |
T |
2: 87,418,243 (GRCm38) |
D65V |
possibly damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,498,612 (GRCm38) |
T487A |
possibly damaging |
Het |
| Phlpp2 |
A |
G |
8: 109,940,835 (GRCm38) |
E1332G |
probably benign |
Het |
| Pick1 |
T |
C |
15: 79,241,281 (GRCm38) |
S113P |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,779,867 (GRCm38) |
E1023G |
probably damaging |
Het |
| Sf3b3 |
A |
C |
8: 110,839,954 (GRCm38) |
V248G |
probably damaging |
Het |
| Smg5 |
T |
A |
3: 88,346,452 (GRCm38) |
Y126* |
probably null |
Het |
| Spert |
A |
G |
14: 75,583,389 (GRCm38) |
S299P |
probably benign |
Het |
| Spin1 |
T |
C |
13: 51,127,937 (GRCm38) |
V22A |
probably benign |
Het |
| Stab1 |
C |
T |
14: 31,150,263 (GRCm38) |
R1189Q |
possibly damaging |
Het |
| Sytl5 |
A |
G |
X: 9,963,700 (GRCm38) |
D538G |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 24,037,915 (GRCm38) |
M101K |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,935,054 (GRCm38) |
V578A |
probably damaging |
Het |
| Tmem266 |
G |
T |
9: 55,437,233 (GRCm38) |
C383F |
probably benign |
Het |
| Trim34a |
T |
C |
7: 104,260,933 (GRCm38) |
|
probably null |
Het |
| Vmn2r104 |
T |
C |
17: 20,029,604 (GRCm38) |
T802A |
probably damaging |
Het |
| Vmn2r32 |
A |
C |
7: 7,464,030 (GRCm38) |
I833S |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,426,459 (GRCm38) |
D137G |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,946,026 (GRCm38) |
S2467L |
probably benign |
Het |
|
| Other mutations in Rspry1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Rspry1
|
APN |
8 |
94,622,980 (GRCm38) |
intron |
probably benign |
|
|
IGL00158:Rspry1
|
APN |
8 |
94,622,986 (GRCm38) |
start codon destroyed |
probably null |
0.89 |
|
IGL01141:Rspry1
|
APN |
8 |
94,649,855 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01860:Rspry1
|
APN |
8 |
94,649,816 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02174:Rspry1
|
APN |
8 |
94,633,140 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL02819:Rspry1
|
APN |
8 |
94,654,256 (GRCm38) |
missense |
probably benign |
0.42 |
|
IGL02926:Rspry1
|
APN |
8 |
94,649,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0570:Rspry1
|
UTSW |
8 |
94,629,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1833:Rspry1
|
UTSW |
8 |
94,635,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1988:Rspry1
|
UTSW |
8 |
94,632,054 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2444:Rspry1
|
UTSW |
8 |
94,623,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3623:Rspry1
|
UTSW |
8 |
94,649,777 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3624:Rspry1
|
UTSW |
8 |
94,649,777 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4275:Rspry1
|
UTSW |
8 |
94,649,761 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4888:Rspry1
|
UTSW |
8 |
94,658,789 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5026:Rspry1
|
UTSW |
8 |
94,650,303 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5310:Rspry1
|
UTSW |
8 |
94,623,185 (GRCm38) |
missense |
probably benign |
|
|
R5374:Rspry1
|
UTSW |
8 |
94,654,264 (GRCm38) |
missense |
probably benign |
0.38 |
|
R5374:Rspry1
|
UTSW |
8 |
94,623,008 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5387:Rspry1
|
UTSW |
8 |
94,638,286 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5517:Rspry1
|
UTSW |
8 |
94,636,760 (GRCm38) |
splice site |
probably null |
|
|
R5631:Rspry1
|
UTSW |
8 |
94,629,078 (GRCm38) |
start codon destroyed |
possibly damaging |
0.79 |
|
R5653:Rspry1
|
UTSW |
8 |
94,636,611 (GRCm38) |
splice site |
probably null |
|
|
R6065:Rspry1
|
UTSW |
8 |
94,622,987 (GRCm38) |
start codon destroyed |
probably null |
0.98 |
|
R6220:Rspry1
|
UTSW |
8 |
94,658,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6276:Rspry1
|
UTSW |
8 |
94,623,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6821:Rspry1
|
UTSW |
8 |
94,635,431 (GRCm38) |
nonsense |
probably null |
|
|
R7390:Rspry1
|
UTSW |
8 |
94,623,185 (GRCm38) |
missense |
probably benign |
|
|
R7460:Rspry1
|
UTSW |
8 |
94,650,335 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7644:Rspry1
|
UTSW |
8 |
94,658,768 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7717:Rspry1
|
UTSW |
8 |
94,623,122 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7768:Rspry1
|
UTSW |
8 |
94,629,841 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7940:Rspry1
|
UTSW |
8 |
94,623,007 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7978:Rspry1
|
UTSW |
8 |
94,623,125 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8087:Rspry1
|
UTSW |
8 |
94,654,297 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8174:Rspry1
|
UTSW |
8 |
94,649,822 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8326:Rspry1
|
UTSW |
8 |
94,639,589 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8676:Rspry1
|
UTSW |
8 |
94,632,119 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8715:Rspry1
|
UTSW |
8 |
94,623,260 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8869:Rspry1
|
UTSW |
8 |
94,633,152 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9253:Rspry1
|
UTSW |
8 |
94,622,993 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9281:Rspry1
|
UTSW |
8 |
94,636,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9699:Rspry1
|
UTSW |
8 |
94,654,229 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0010:Rspry1
|
UTSW |
8 |
94,629,801 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
| Posted On |
2016-08-02 |
Incidental Mutation