Incidental Mutation 'IGL01860:Rspry1'
| ID |
178300 |
| 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 # |
IGL01860
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
94601937-94660275 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94649816 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 322
(N322S)
|
| 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: N446S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: N446S
| 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: N446S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212729
AA Change: N322S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,952,416 (GRCm38) |
N248Y |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,978,011 (GRCm38) |
V128M |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,772,526 (GRCm38) |
|
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,154,396 (GRCm38) |
M1405K |
probably damaging |
Het |
| Atp6v1a |
G |
T |
16: 44,099,956 (GRCm38) |
L426M |
probably damaging |
Het |
| Cdc123 |
A |
G |
2: 5,803,941 (GRCm38) |
|
probably benign |
Het |
| Cept1 |
A |
G |
3: 106,531,128 (GRCm38) |
|
probably benign |
Het |
| Cipc |
T |
A |
12: 86,960,273 (GRCm38) |
D60E |
probably damaging |
Het |
| Exosc3 |
A |
G |
4: 45,319,659 (GRCm38) |
I121T |
probably benign |
Het |
| Fam155a |
A |
T |
8: 9,207,831 (GRCm38) |
V439E |
probably damaging |
Het |
| Fam26f |
A |
G |
10: 34,126,565 (GRCm38) |
V174A |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,809,869 (GRCm38) |
Y89H |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 24,903,948 (GRCm38) |
I154N |
probably damaging |
Het |
| Fhod3 |
T |
C |
18: 24,897,681 (GRCm38) |
F128L |
probably damaging |
Het |
| Fpgt |
T |
C |
3: 155,086,846 (GRCm38) |
T515A |
probably benign |
Het |
| Gas2l2 |
G |
A |
11: 83,422,080 (GRCm38) |
T802I |
probably benign |
Het |
| Gm10424 |
G |
A |
5: 95,270,651 (GRCm38) |
T162I |
probably benign |
Het |
| Gm10710 |
T |
A |
3: 83,127,849 (GRCm38) |
|
probably benign |
Het |
| Gm11639 |
T |
C |
11: 104,690,921 (GRCm38) |
S30P |
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,933,695 (GRCm38) |
M1051T |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 78,808,480 (GRCm38) |
V849A |
probably damaging |
Het |
| Helb |
T |
C |
10: 120,102,833 (GRCm38) |
I579V |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 34,978,811 (GRCm38) |
I609V |
probably benign |
Het |
| Itgam |
C |
A |
7: 128,070,943 (GRCm38) |
Q136K |
probably benign |
Het |
| Kcnc1 |
T |
C |
7: 46,428,130 (GRCm38) |
L452P |
probably damaging |
Het |
| Ltbp4 |
T |
A |
7: 27,319,646 (GRCm38) |
T1083S |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,698,957 (GRCm38) |
I1449M |
probably damaging |
Het |
| Mpp5 |
T |
C |
12: 78,830,907 (GRCm38) |
V531A |
possibly damaging |
Het |
| P2rx5 |
T |
A |
11: 73,165,559 (GRCm38) |
V103E |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,205,092 (GRCm38) |
D888G |
possibly damaging |
Het |
| Pcdhb21 |
G |
T |
18: 37,514,905 (GRCm38) |
M362I |
probably benign |
Het |
| Pde1a |
A |
G |
2: 79,875,284 (GRCm38) |
S333P |
probably damaging |
Het |
| Ppm1j |
A |
G |
3: 104,784,092 (GRCm38) |
T299A |
probably damaging |
Het |
| Ptdss2 |
A |
G |
7: 141,152,836 (GRCm38) |
E168G |
probably damaging |
Het |
| Slc7a9 |
T |
A |
7: 35,457,060 (GRCm38) |
V309E |
probably damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,075,823 (GRCm38) |
|
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,657,264 (GRCm38) |
M103K |
probably damaging |
Het |
| Tbxas1 |
T |
A |
6: 38,948,627 (GRCm38) |
F59I |
probably damaging |
Het |
| Tfpi |
A |
G |
2: 84,444,034 (GRCm38) |
S203P |
probably benign |
Het |
| Tram2 |
T |
C |
1: 21,003,859 (GRCm38) |
N285S |
possibly damaging |
Het |
| Trio |
T |
A |
15: 27,846,810 (GRCm38) |
D980V |
probably damaging |
Het |
| Trpv5 |
T |
A |
6: 41,660,295 (GRCm38) |
H419L |
probably damaging |
Het |
| Usp28 |
C |
T |
9: 49,032,243 (GRCm38) |
R361* |
probably null |
Het |
| Vmn1r6 |
T |
A |
6: 57,002,689 (GRCm38) |
L112* |
probably null |
Het |
| Vmn2r12 |
A |
T |
5: 109,092,159 (GRCm38) |
N179K |
probably benign |
Het |
| Vmn2r82 |
G |
T |
10: 79,378,857 (GRCm38) |
A225S |
probably benign |
Het |
| Zcchc4 |
A |
G |
5: 52,808,356 (GRCm38) |
Y334C |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,702,834 (GRCm38) |
E949G |
possibly damaging |
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 |
|
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 |
|
IGL03366:Rspry1
|
APN |
8 |
94,650,334 (GRCm38) |
missense |
probably benign |
0.00 |
|
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 |
2014-05-07 |
Incidental Mutation