Incidental Mutation 'IGL02926:Rspry1'
| ID |
363892 |
| 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 # |
IGL02926
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
95328569-95386905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95376439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 320
(N320K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060389]
[ENSMUST00000211983]
[ENSMUST00000212729]
|
| AlphaFold |
Q8BVR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060389
AA Change: N444K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: N444K
| 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 damaging
Transcript: ENSMUST00000211983
AA Change: N444K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212729
AA Change: N320K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
T |
6: 85,618,432 (GRCm39) |
D2826V |
probably damaging |
Het |
| Alpl |
C |
T |
4: 137,469,945 (GRCm39) |
A460T |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,976,963 (GRCm39) |
|
probably benign |
Het |
| C4b |
C |
T |
17: 34,949,686 (GRCm39) |
R1468Q |
possibly damaging |
Het |
| Calu |
A |
G |
6: 29,366,919 (GRCm39) |
T44A |
possibly damaging |
Het |
| Cgn |
T |
C |
3: 94,685,326 (GRCm39) |
K399R |
probably benign |
Het |
| Ciao3 |
A |
G |
17: 26,001,128 (GRCm39) |
H460R |
probably benign |
Het |
| Cyp2t4 |
G |
A |
7: 26,857,228 (GRCm39) |
V356M |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,044,604 (GRCm39) |
D683G |
probably damaging |
Het |
| Dhcr24 |
T |
A |
4: 106,443,552 (GRCm39) |
I410N |
probably damaging |
Het |
| Dmap1 |
T |
A |
4: 117,539,085 (GRCm39) |
E17V |
probably benign |
Het |
| Dnaaf9 |
C |
T |
2: 130,554,286 (GRCm39) |
R921K |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,535,109 (GRCm39) |
I2717T |
possibly damaging |
Het |
| Epb41l3 |
G |
T |
17: 69,554,741 (GRCm39) |
K280N |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,208,290 (GRCm39) |
M432K |
probably damaging |
Het |
| Fgf5 |
C |
A |
5: 98,409,874 (GRCm39) |
A141E |
probably damaging |
Het |
| Fto |
T |
A |
8: 92,211,795 (GRCm39) |
F373L |
probably damaging |
Het |
| Gpatch1 |
T |
C |
7: 35,007,694 (GRCm39) |
D122G |
probably damaging |
Het |
| Ints11 |
T |
C |
4: 155,972,568 (GRCm39) |
|
probably null |
Het |
| Jarid2 |
A |
G |
13: 45,056,405 (GRCm39) |
Q398R |
probably benign |
Het |
| Kcnh1 |
A |
G |
1: 191,959,208 (GRCm39) |
D254G |
probably damaging |
Het |
| Lamc3 |
C |
T |
2: 31,825,738 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
C |
T |
2: 31,825,737 (GRCm39) |
|
probably benign |
Het |
| Ltbp4 |
T |
C |
7: 27,028,297 (GRCm39) |
|
probably null |
Het |
| Mcm6 |
A |
G |
1: 128,267,119 (GRCm39) |
Y575H |
probably damaging |
Het |
| Myh9 |
A |
C |
15: 77,671,826 (GRCm39) |
Y422D |
probably damaging |
Het |
| Or4c35 |
T |
C |
2: 89,808,506 (GRCm39) |
L128P |
probably damaging |
Het |
| Or5b105 |
A |
C |
19: 13,080,187 (GRCm39) |
N160K |
possibly damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,021 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,206,682 (GRCm39) |
|
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,246,881 (GRCm39) |
E251G |
probably damaging |
Het |
| Psg27 |
A |
T |
7: 18,291,054 (GRCm39) |
V383E |
probably damaging |
Het |
| Ptprn |
A |
T |
1: 75,224,517 (GRCm39) |
H946Q |
possibly damaging |
Het |
| Rbl1 |
A |
G |
2: 157,009,333 (GRCm39) |
V734A |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,760,965 (GRCm39) |
V3219D |
probably damaging |
Het |
| Ryr2 |
C |
A |
13: 11,774,721 (GRCm39) |
W1145L |
probably damaging |
Het |
| Scel |
A |
T |
14: 103,813,683 (GRCm39) |
R319* |
probably null |
Het |
| Stxbp2 |
C |
T |
8: 3,685,629 (GRCm39) |
T226I |
probably benign |
Het |
| Tac1 |
A |
T |
6: 7,562,410 (GRCm39) |
N106I |
possibly damaging |
Het |
| Trim13 |
G |
T |
14: 61,842,693 (GRCm39) |
|
probably null |
Het |
| Tspan31 |
T |
G |
10: 126,904,778 (GRCm39) |
|
probably null |
Het |
| Usp36 |
C |
T |
11: 118,155,609 (GRCm39) |
V723M |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,566,504 (GRCm39) |
N1219K |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,836,742 (GRCm39) |
T2934K |
probably 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 |
|
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 |
2015-12-18 |
Incidental Mutation