Incidental Mutation 'R7940:Rspry1'
| ID |
649007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rspry1
|
| Ensembl Gene |
ENSMUSG00000050079 |
| Gene Name |
ring finger and SPRY domain containing 1 |
| Synonyms |
4930470D19Rik |
| MMRRC Submission |
045986-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R7940 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95328569-95386905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 95349635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 8
(V8L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060389]
[ENSMUST00000121101]
[ENSMUST00000211983]
[ENSMUST00000212729]
|
| AlphaFold |
Q8BVR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060389
AA Change: V8L
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: V8L
| 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 |
possibly damaging
Transcript: ENSMUST00000121101
AA Change: V8L
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112482
Gene: ENSMUSG00000050079
AA Change: V8L
| 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
AA Change: V8L
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212729
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (56/57) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
G |
7: 130,952,767 (GRCm39) |
M238T |
probably benign |
Het |
| Acacb |
C |
T |
5: 114,304,108 (GRCm39) |
S177F |
possibly damaging |
Het |
| Afap1l2 |
A |
G |
19: 56,902,597 (GRCm39) |
V822A |
probably damaging |
Het |
| Alpk3 |
C |
T |
7: 80,743,693 (GRCm39) |
P1170L |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,227,596 (GRCm39) |
I1234V |
probably damaging |
Het |
| Ascc1 |
G |
A |
10: 59,848,381 (GRCm39) |
V103M |
probably null |
Het |
| Brca2 |
C |
G |
5: 150,462,198 (GRCm39) |
T654S |
probably benign |
Het |
| Cblb |
T |
C |
16: 51,972,899 (GRCm39) |
F410S |
probably damaging |
Het |
| Cep95 |
T |
A |
11: 106,686,974 (GRCm39) |
N94K |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cpe |
T |
A |
8: 65,047,945 (GRCm39) |
S440C |
probably damaging |
Het |
| Cspg4 |
C |
T |
9: 56,795,381 (GRCm39) |
Q1039* |
probably null |
Het |
| Cul5 |
A |
T |
9: 53,535,069 (GRCm39) |
S612T |
probably benign |
Het |
| Dapl1 |
T |
C |
2: 59,315,112 (GRCm39) |
|
probably null |
Het |
| Deptor |
C |
T |
15: 55,072,244 (GRCm39) |
T241M |
probably benign |
Het |
| Dnaaf1 |
A |
G |
8: 120,309,454 (GRCm39) |
T181A |
possibly damaging |
Het |
| Dnajc11 |
G |
T |
4: 152,053,045 (GRCm39) |
Q156H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,206,757 (GRCm39) |
V975A |
possibly damaging |
Het |
| Elf3 |
T |
A |
1: 135,184,866 (GRCm39) |
S107C |
probably damaging |
Het |
| Enpp2 |
T |
A |
15: 54,770,324 (GRCm39) |
D105V |
probably damaging |
Het |
| Fgd6 |
G |
A |
10: 93,956,344 (GRCm39) |
V1008I |
probably benign |
Het |
| Frmpd2 |
C |
T |
14: 33,276,850 (GRCm39) |
R1157* |
probably null |
Het |
| Gabrg2 |
A |
C |
11: 41,858,474 (GRCm39) |
V218G |
probably benign |
Het |
| Gdpgp1 |
C |
T |
7: 79,888,953 (GRCm39) |
A328V |
probably damaging |
Het |
| Glis1 |
C |
G |
4: 107,489,571 (GRCm39) |
F719L |
probably damaging |
Het |
| Glis1 |
A |
T |
4: 107,489,572 (GRCm39) |
N720Y |
probably damaging |
Het |
| Grin2c |
G |
T |
11: 115,146,107 (GRCm39) |
A546D |
probably damaging |
Het |
| Gtf3c5 |
G |
A |
2: 28,458,592 (GRCm39) |
T433I |
possibly damaging |
Het |
| Jmjd6 |
C |
A |
11: 116,734,055 (GRCm39) |
|
probably benign |
Het |
| Kctd14 |
T |
C |
7: 97,106,891 (GRCm39) |
S49P |
probably damaging |
Het |
| Lamc2 |
T |
A |
1: 153,006,521 (GRCm39) |
K877* |
probably null |
Het |
| Lgr4 |
T |
A |
2: 109,836,858 (GRCm39) |
S397R |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,262,541 (GRCm39) |
I4420N |
possibly damaging |
Het |
| Lyn |
A |
G |
4: 3,783,089 (GRCm39) |
K441E |
possibly damaging |
Het |
| Minpp1 |
A |
T |
19: 32,463,359 (GRCm39) |
S7C |
possibly damaging |
Het |
| Mrps9 |
T |
A |
1: 42,901,808 (GRCm39) |
D105E |
probably damaging |
Het |
| Ncoa1 |
C |
A |
12: 4,363,095 (GRCm39) |
A247S |
possibly damaging |
Het |
| Or52b4i |
G |
A |
7: 102,191,515 (GRCm39) |
R124H |
possibly damaging |
Het |
| Or8c15 |
T |
C |
9: 38,120,496 (GRCm39) |
V47A |
probably benign |
Het |
| Pabir1 |
G |
A |
19: 24,454,552 (GRCm39) |
R57W |
probably benign |
Het |
| Pakap |
A |
G |
4: 57,883,026 (GRCm39) |
K790E |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,430,022 (GRCm39) |
V1250I |
probably damaging |
Het |
| Pcdha12 |
A |
T |
18: 37,153,409 (GRCm39) |
T43S |
probably damaging |
Het |
| Pkn2 |
G |
A |
3: 142,516,480 (GRCm39) |
R549C |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Polq |
T |
A |
16: 36,881,004 (GRCm39) |
M1056K |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,803,793 (GRCm39) |
N455K |
probably benign |
Het |
| Rhbdf1 |
T |
A |
11: 32,166,258 (GRCm39) |
M1L |
possibly damaging |
Het |
| Slc6a20b |
A |
G |
9: 123,436,666 (GRCm39) |
V249A |
probably damaging |
Het |
| Smok2b |
A |
T |
17: 13,455,046 (GRCm39) |
H402L |
possibly damaging |
Het |
| Supt20 |
A |
T |
3: 54,620,620 (GRCm39) |
N393I |
probably benign |
Het |
| Tcp11l1 |
T |
C |
2: 104,528,993 (GRCm39) |
K102E |
probably damaging |
Het |
| Tpbgl |
T |
C |
7: 99,274,798 (GRCm39) |
Y353C |
probably damaging |
Het |
| Usp24 |
A |
T |
4: 106,287,741 (GRCm39) |
Q2465L |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,605,946 (GRCm39) |
M286K |
probably damaging |
Het |
| Wnt16 |
C |
A |
6: 22,291,188 (GRCm39) |
N205K |
possibly damaging |
Het |
| Xkr7 |
C |
A |
2: 152,874,135 (GRCm39) |
F67L |
probably damaging |
Het |
| Zfp473 |
T |
G |
7: 44,384,000 (GRCm39) |
E111A |
probably damaging |
Het |
| Zfp74 |
T |
C |
7: 29,631,867 (GRCm39) |
K126E |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATTGAGTAGTCAAGACCTTCTG -3'
(R):5'- GGACTGTACTGTTCTCAGCCTG -3'
Sequencing Primer
(F):5'- TCTCTTGTAGAACTGCCAGTG -3'
(R):5'- CTGTTGCTGGTGGGTGTCAAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation