Mutagenetix > Incidental Mutation

Incidental Mutation 'R7768:Rspry1'

598389

Institutional Source

Beutler Lab

Gene Symbol

Rspry1

Ensembl Gene

ENSMUSG00000050079

Gene Name

ring finger and SPRY domain containing 1

Synonyms

4930470D19Rik

MMRRC Submission

045824-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.361) question?

Stock #

R7768 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95328569-95386905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95356469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 165 (D165E)

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: D165E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: D165E

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 benign
Transcript: ENSMUST00000121101

SMART Domains

Protein: ENSMUSP00000112482
Gene: ENSMUSG00000050079

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: D165E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212729
AA Change: D41E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	A	G	13: 12,297,480 (GRCm39)	V479A	possibly damaging	Het
Acy1	G	A	9: 106,310,817 (GRCm39)	T317M	possibly damaging	Het
Adgrg6	A	T	10: 14,307,410 (GRCm39)	D797E	probably benign	Het
Ank1	C	T	8: 23,588,013 (GRCm39)	A552V	probably benign	Het
Ankrd13c	A	G	3: 157,694,284 (GRCm39)	T262A	probably benign	Het
Ap4e1	A	T	2: 126,888,854 (GRCm39)	N468Y	probably damaging	Het
Apbb1	T	C	7: 105,216,295 (GRCm39)	I367V	probably benign	Het
Arl6	A	G	16: 59,452,699 (GRCm39)	I33T	probably damaging	Het
Asgr2	T	C	11: 69,996,242 (GRCm39)	I228T	probably damaging	Het
Aspn	A	G	13: 49,710,871 (GRCm39)	H172R	probably damaging	Het
Bclaf1	T	A	10: 20,215,517 (GRCm39)	F868L	probably benign	Het
Cacna1i	G	A	15: 80,265,389 (GRCm39)	R1547H	probably damaging	Het
Celsr1	G	T	15: 85,816,610 (GRCm39)	Q1778K	probably benign	Het
Cep250	T	C	2: 155,827,929 (GRCm39)	L42S		Het
Clnk	C	A	5: 38,925,501 (GRCm39)	R100L	probably damaging	Het
Cpvl	A	G	6: 53,873,476 (GRCm39)	V420A	possibly damaging	Het
Dicer1	C	A	12: 104,672,956 (GRCm39)	G825V	probably damaging	Het
Dmxl2	T	C	9: 54,288,223 (GRCm39)	Y2628C	probably damaging	Het
Dnah7b	T	A	1: 46,176,634 (GRCm39)	H751Q	probably benign	Het
Dnhd1	C	A	7: 105,370,302 (GRCm39)	R4576S	possibly damaging	Het
Dzip1	A	T	14: 119,116,910 (GRCm39)	D775E	probably benign	Het
Erich3	T	A	3: 154,453,968 (GRCm39)	M381K	probably benign	Het
Fam193a	A	G	5: 34,623,135 (GRCm39)	D1241G	possibly damaging	Het
Gbx2	A	G	1: 89,856,706 (GRCm39)	L228P	probably benign	Het
Ggt7	A	T	2: 155,348,421 (GRCm39)	M77K	possibly damaging	Het
Gpr26	T	A	7: 131,576,077 (GRCm39)	I247K	probably damaging	Het
Grip1	A	G	10: 119,874,302 (GRCm39)	T745A	probably damaging	Het
Gusb	A	T	5: 130,029,246 (GRCm39)	H178Q	probably benign	Het
Hacl1	T	C	14: 31,338,437 (GRCm39)	Y380C	probably damaging	Het
Hdac9	T	C	12: 34,440,239 (GRCm39)	H380R	possibly damaging	Het
Icam4	T	A	9: 20,941,290 (GRCm39)	L143Q	probably damaging	Het
Ikbkb	T	A	8: 23,185,252 (GRCm39)	I43F	probably damaging	Het
Ints11	G	T	4: 155,971,396 (GRCm39)	K303N	probably damaging	Het
Itpa	A	T	2: 130,509,836 (GRCm39)	N16I	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kat6a	T	A	8: 23,393,228 (GRCm39)	N235K	probably damaging	Het
Kmt2a	C	T	9: 44,731,900 (GRCm39)	V2806I	unknown	Het
Loxhd1	T	A	18: 77,472,637 (GRCm39)	F1051L	probably damaging	Het
Map2	A	G	1: 66,453,642 (GRCm39)	E844G	possibly damaging	Het
Mmp7	T	A	9: 7,697,749 (GRCm39)	Y261*	probably null	Het
Muc4	A	C	16: 32,576,568 (GRCm39)	M2023L	unknown	Het
Mybpc1	C	A	10: 88,378,234 (GRCm39)	G688V	probably damaging	Het
Myo3a	A	G	2: 22,245,954 (GRCm39)	T34A	probably damaging	Het
Nrxn2	A	G	19: 6,531,409 (GRCm39)	T683A	possibly damaging	Het
Nup160	A	G	2: 90,530,460 (GRCm39)	I444V	probably damaging	Het
Or2t29	A	T	11: 58,433,466 (GRCm39)	S292T	probably damaging	Het
Or2t29	A	T	11: 58,433,693 (GRCm39)	M216K	possibly damaging	Het
Or4f4-ps1	A	C	2: 111,330,198 (GRCm39)	K200N	possibly damaging	Het
Or8w1	T	C	2: 87,465,657 (GRCm39)	M145V	probably benign	Het
Pcdha1	A	G	18: 37,065,220 (GRCm39)	E628G	probably damaging	Het
Pcdha12	T	C	18: 37,155,404 (GRCm39)	S708P	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Pkd1l2	A	G	8: 117,781,599 (GRCm39)		probably null	Het
Pla2g6	T	C	15: 79,181,514 (GRCm39)	D577G	probably damaging	Het
Pla2r1	G	T	2: 60,279,290 (GRCm39)	D763E	probably benign	Het
Pramel18	A	C	4: 101,769,010 (GRCm39)	I454L	probably benign	Het
Psg18	A	T	7: 18,079,953 (GRCm39)	I416N	probably damaging	Het
Rapgef6	G	T	11: 54,517,414 (GRCm39)	V369F	probably damaging	Het
Rasal3	T	C	17: 32,615,767 (GRCm39)	E357G	probably damaging	Het
Rhbdl3	G	A	11: 80,221,447 (GRCm39)	R195Q	probably benign	Het
Rnf216	A	T	5: 143,084,199 (GRCm39)	M1K	probably null	Het
Rwdd2b	G	A	16: 87,233,633 (GRCm39)	L156F	probably benign	Het
Scn11a	T	A	9: 119,644,338 (GRCm39)	I141F	probably benign	Het
Sirt2	A	T	7: 28,482,284 (GRCm39)	T198S	probably benign	Het
Slc2a1	A	G	4: 118,989,644 (GRCm39)	N94D	probably damaging	Het
Slc33a1	A	G	3: 63,855,039 (GRCm39)	F407S	possibly damaging	Het
Slc38a4	A	C	15: 96,906,545 (GRCm39)	L356R	probably damaging	Het
Slc43a1	T	A	2: 84,687,215 (GRCm39)	L372Q	probably damaging	Het
Slc6a6	T	A	6: 91,716,946 (GRCm39)	I274N	probably damaging	Het
Smchd1	C	T	17: 71,718,906 (GRCm39)	G821D	probably damaging	Het
Spata33	T	C	8: 123,941,146 (GRCm39)	F65S	unknown	Het
Spmip5	A	T	19: 58,781,174 (GRCm39)	Y25N	probably damaging	Het
Stx19	A	G	16: 62,642,567 (GRCm39)	T128A	probably benign	Het
Tas2r103	T	C	6: 133,013,812 (GRCm39)	M85V	probably benign	Het
Tas2r117	C	T	6: 132,780,485 (GRCm39)	L208F	probably damaging	Het
Tcirg1	A	T	19: 3,952,900 (GRCm39)	I233N	possibly damaging	Het
Uba6	C	A	5: 86,300,779 (GRCm39)	W192L	probably benign	Het
Ube3a	T	C	7: 58,938,525 (GRCm39)	I761T	probably damaging	Het
Unc80	T	C	1: 66,549,754 (GRCm39)	S671P	possibly damaging	Het
Usp8	A	G	2: 126,593,043 (GRCm39)	Q766R	probably damaging	Het
Vmn2r103	A	G	17: 20,032,314 (GRCm39)	N696S	probably damaging	Het
Vmn2r14	G	A	5: 109,368,086 (GRCm39)	T302I	probably benign	Het
Vmn2r50	G	A	7: 9,771,298 (GRCm39)	A801V	probably damaging	Het
Vmn2r85	T	G	10: 130,254,562 (GRCm39)	Q707H	probably damaging	Het
Wsb2	G	A	5: 117,501,787 (GRCm39)	V51M	probably benign	Het
Xdh	T	C	17: 74,246,831 (GRCm39)	T78A	probably benign	Het
Zfp442	T	C	2: 150,250,241 (GRCm39)	K554E	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
R7717:Rspry1	UTSW	8	95,349,750 (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'- AGGCCTAAAGTGTTTGTAAGTCC -3'
(R):5'- TGTCCTCGCAAAAGCAAACG -3'

Sequencing Primer
(F):5'- CTTAGATGAAGGATGGTTGG -3'
(R):5'- CTGGGAATTGAACTCAGGACCTCTG -3'

Posted On

2019-11-26