Incidental Mutation 'R8174:Rspry1'
| ID |
634233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rspry1
|
| Ensembl Gene |
ENSMUSG00000050079 |
| Gene Name |
ring finger and SPRY domain containing 1 |
| Synonyms |
4930470D19Rik |
| MMRRC Submission |
067599-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R8174 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95328569-95386905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95376450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 448
(L448Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060389]
[ENSMUST00000211983]
[ENSMUST00000212729]
|
| AlphaFold |
Q8BVR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060389
AA Change: L448Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: L448Q
| 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 damaging
Transcript: ENSMUST00000211983
AA Change: L448Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212729
AA Change: L324Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (40/40) |
| 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 |
|---|
| Akap13 |
A |
G |
7: 75,378,617 (GRCm39) |
N2090S |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,650,800 (GRCm39) |
S930P |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,823,466 (GRCm39) |
I506N |
probably damaging |
Het |
| Calm1 |
G |
T |
12: 100,171,967 (GRCm39) |
V140L |
probably benign |
Het |
| Cdsn |
A |
T |
17: 35,866,529 (GRCm39) |
K353* |
probably null |
Het |
| Cldn11 |
T |
C |
3: 31,208,210 (GRCm39) |
V125A |
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,470,284 (GRCm39) |
|
probably null |
Het |
| Dlg2 |
A |
G |
7: 91,589,248 (GRCm39) |
I216V |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,311,279 (GRCm39) |
|
probably null |
Het |
| Dnajc28 |
G |
A |
16: 91,413,795 (GRCm39) |
R150* |
probably null |
Het |
| Erap1 |
A |
T |
13: 74,794,683 (GRCm39) |
Y114F |
probably benign |
Het |
| Gm14443 |
G |
A |
2: 175,011,468 (GRCm39) |
P326L |
probably damaging |
Het |
| Gm2042 |
T |
A |
12: 87,926,928 (GRCm39) |
L415Q |
probably damaging |
Het |
| Gm8797 |
T |
C |
3: 5,816,094 (GRCm39) |
I44T |
probably benign |
Het |
| Matn2 |
C |
A |
15: 34,422,555 (GRCm39) |
F547L |
probably benign |
Het |
| Mpc2 |
T |
A |
1: 165,308,458 (GRCm39) |
|
probably null |
Het |
| Or5b12b |
A |
G |
19: 12,861,268 (GRCm39) |
T8A |
probably benign |
Het |
| Or7d10 |
A |
C |
9: 19,832,020 (GRCm39) |
T172P |
probably damaging |
Het |
| Pcnx4 |
T |
A |
12: 72,603,687 (GRCm39) |
L536Q |
probably damaging |
Het |
| Phlpp2 |
G |
A |
8: 110,595,321 (GRCm39) |
R24H |
unknown |
Het |
| Pkmyt1 |
A |
T |
17: 23,952,813 (GRCm39) |
D123V |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,106,466 (GRCm39) |
M668K |
probably benign |
Het |
| Ppp1r12a |
G |
T |
10: 108,107,598 (GRCm39) |
A974S |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,090,501 (GRCm39) |
|
probably benign |
Het |
| Rabl3 |
T |
C |
16: 37,377,225 (GRCm39) |
Y61H |
probably damaging |
Het |
| Rap2a |
T |
A |
14: 120,716,269 (GRCm39) |
I44N |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,735,111 (GRCm39) |
V2779A |
probably damaging |
Het |
| Rnf43 |
G |
T |
11: 87,622,057 (GRCm39) |
R259L |
probably benign |
Het |
| Slc43a2 |
T |
G |
11: 75,434,193 (GRCm39) |
|
probably null |
Het |
| Slc6a5 |
A |
G |
7: 49,598,057 (GRCm39) |
I640M |
probably benign |
Het |
| Sp140l1 |
T |
G |
1: 85,077,261 (GRCm39) |
S102R |
probably damaging |
Het |
| Srrm2 |
C |
T |
17: 24,034,297 (GRCm39) |
P314S |
unknown |
Het |
| Strn4 |
C |
T |
7: 16,562,733 (GRCm39) |
R291C |
probably damaging |
Het |
| Syt4 |
T |
A |
18: 31,577,230 (GRCm39) |
R41S |
probably benign |
Het |
| Tfb1m |
T |
C |
17: 3,569,855 (GRCm39) |
D337G |
probably benign |
Het |
| Togaram1 |
G |
T |
12: 65,029,465 (GRCm39) |
D963Y |
possibly damaging |
Het |
| Tpsg1 |
T |
C |
17: 25,591,564 (GRCm39) |
C55R |
probably damaging |
Het |
| Tram1l1 |
A |
G |
3: 124,115,911 (GRCm39) |
K357R |
probably benign |
Het |
| Veph1 |
A |
G |
3: 66,171,316 (GRCm39) |
I42T |
probably damaging |
Het |
| Vps13b |
C |
G |
15: 35,709,456 (GRCm39) |
S1801* |
probably null |
Het |
| Zcwpw1 |
G |
A |
5: 137,817,839 (GRCm39) |
|
probably null |
Het |
| Zfp266 |
G |
A |
9: 20,418,110 (GRCm39) |
|
probably benign |
Het |
| Zmym5 |
T |
A |
14: 57,031,918 (GRCm39) |
R397* |
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 |
|
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 |
|
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'- ATGTCAGATAAGCTGCACAGG -3'
(R):5'- AATATCAAACCCTCGGGCATTGAG -3'
Sequencing Primer
(F):5'- GCAAAGATAAATGTGTTGAATGTGTG -3'
(R):5'- CTCGGGCATTGAGGTCAGATC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation