Incidental Mutation 'R7717:Rspry1'
| ID |
594980 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7717 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95328569-95386905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 95349750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 46
(C46F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060389]
[ENSMUST00000121101]
[ENSMUST00000211983]
[ENSMUST00000212729]
|
| AlphaFold |
Q8BVR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060389
AA Change: C46F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: C46F
| 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: ENSMUST00000121101
AA Change: C46F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112482
Gene: ENSMUSG00000050079
AA Change: C46F
| 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 damaging
Transcript: ENSMUST00000211983
AA Change: C46F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212729
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
T |
C |
17: 43,761,644 (GRCm39) |
L1113P |
probably damaging |
Het |
| Aldh3b3 |
T |
C |
19: 4,013,970 (GRCm39) |
L57P |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,559,251 (GRCm39) |
D132G |
probably benign |
Het |
| Cep290 |
C |
T |
10: 100,328,543 (GRCm39) |
R111W |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,250,298 (GRCm39) |
D792G |
probably damaging |
Het |
| Col20a1 |
C |
T |
2: 180,649,408 (GRCm39) |
R1029W |
probably damaging |
Het |
| Csf3r |
A |
G |
4: 125,931,403 (GRCm39) |
Y462C |
probably damaging |
Het |
| Cthrc1 |
T |
C |
15: 38,940,511 (GRCm39) |
V38A |
probably benign |
Het |
| Cxcr2 |
T |
C |
1: 74,197,998 (GRCm39) |
V164A |
probably benign |
Het |
| Efr3b |
A |
G |
12: 4,034,574 (GRCm39) |
S199P |
probably damaging |
Het |
| Elavl4 |
A |
G |
4: 110,063,663 (GRCm39) |
C342R |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,042,356 (GRCm39) |
|
probably null |
Het |
| Gm14190 |
A |
T |
11: 99,581,476 (GRCm39) |
C31S |
unknown |
Het |
| Golt1b |
T |
A |
6: 142,339,769 (GRCm39) |
V78D |
probably damaging |
Het |
| Gsdmc3 |
T |
A |
15: 63,741,061 (GRCm39) |
D29V |
probably damaging |
Het |
| Itih1 |
T |
A |
14: 30,653,142 (GRCm39) |
D766V |
probably damaging |
Het |
| Larp1b |
C |
T |
3: 40,926,879 (GRCm39) |
S251F |
probably damaging |
Het |
| Lrp8 |
A |
G |
4: 107,691,940 (GRCm39) |
T115A |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,395,126 (GRCm39) |
S100P |
probably benign |
Het |
| Lss |
T |
C |
10: 76,381,286 (GRCm39) |
V424A |
possibly damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,597,073 (GRCm39) |
V568A |
possibly damaging |
Het |
| Myo10 |
A |
T |
15: 25,732,056 (GRCm39) |
T311S |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,172,578 (GRCm39) |
V779A |
probably benign |
Het |
| Or10ak12 |
A |
T |
4: 118,666,130 (GRCm39) |
S310R |
probably damaging |
Het |
| Or11h23 |
T |
A |
14: 50,948,219 (GRCm39) |
L144Q |
probably damaging |
Het |
| Or2ag16 |
A |
G |
7: 106,351,843 (GRCm39) |
W251R |
possibly damaging |
Het |
| Or2n1e |
C |
A |
17: 38,586,471 (GRCm39) |
Q270K |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,320,152 (GRCm39) |
T29A |
probably benign |
Het |
| Or5b21 |
A |
T |
19: 12,839,159 (GRCm39) |
I7F |
probably benign |
Het |
| Pak1 |
T |
A |
7: 97,535,555 (GRCm39) |
D215E |
probably benign |
Het |
| Pde7b |
A |
G |
10: 20,282,937 (GRCm39) |
F355L |
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,978,236 (GRCm39) |
Q397K |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,194,787 (GRCm39) |
S204P |
|
Het |
| Pirb |
T |
C |
7: 3,720,782 (GRCm39) |
K239E |
not run |
Het |
| Pirb |
C |
T |
7: 3,720,800 (GRCm39) |
G233R |
not run |
Het |
| Pnp |
G |
A |
14: 51,188,460 (GRCm39) |
M211I |
probably benign |
Het |
| Pot1a |
A |
T |
6: 25,758,822 (GRCm39) |
L319Q |
probably benign |
Het |
| Sanbr |
A |
C |
11: 23,556,757 (GRCm39) |
C408G |
probably benign |
Het |
| Sec11c |
C |
T |
18: 65,945,783 (GRCm39) |
T82M |
possibly damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,827,134 (GRCm39) |
V414A |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 36,755,762 (GRCm39) |
F79L |
probably damaging |
Het |
| Vmn2r2 |
A |
G |
3: 64,042,019 (GRCm39) |
V232A |
possibly damaging |
Het |
| Zbtb17 |
T |
C |
4: 141,193,394 (GRCm39) |
S593P |
probably damaging |
Het |
| Zfp143 |
T |
G |
7: 109,685,427 (GRCm39) |
C419G |
possibly damaging |
Het |
| Zfp804b |
T |
C |
5: 6,821,293 (GRCm39) |
N590S |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCTTCTCCAGCATTCAGTTG -3'
(R):5'- GTATTACCGCCAGTGTGTCC -3'
Sequencing Primer
(F):5'- GAATAGAATGCAAGTTCAGTTCCAC -3'
(R):5'- GTGTCCAGCACTAACCCATC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation