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: 0.456) question?

Stock #

R7768 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94601937-94660275 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 94629841 bp (GRCm38)

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
1700019N19Rik	A	T	19: 58,792,742 (GRCm38)	Y25N	probably damaging	Het
Actn2	A	G	13: 12,282,594 (GRCm38)	V479A	possibly damaging	Het
Acy1	G	A	9: 106,433,618 (GRCm38)	T317M	possibly damaging	Het
Adgrg6	A	T	10: 14,431,666 (GRCm38)	D797E	probably benign	Het
Ank1	C	T	8: 23,097,997 (GRCm38)	A552V	probably benign	Het
Ankrd13c	A	G	3: 157,988,647 (GRCm38)	T262A	probably benign	Het
Ap4e1	A	T	2: 127,046,934 (GRCm38)	N468Y	probably damaging	Het
Apbb1	T	C	7: 105,567,088 (GRCm38)	I367V	probably benign	Het
Arl6	A	G	16: 59,632,336 (GRCm38)	I33T	probably damaging	Het
Asgr2	T	C	11: 70,105,416 (GRCm38)	I228T	probably damaging	Het
Aspn	A	G	13: 49,557,395 (GRCm38)	H172R	probably damaging	Het
Bclaf1	T	A	10: 20,339,771 (GRCm38)	F868L	probably benign	Het
Cacna1i	G	A	15: 80,381,188 (GRCm38)	R1547H	probably damaging	Het
Celsr1	G	T	15: 85,932,409 (GRCm38)	Q1778K	probably benign	Het
Cep250	T	C	2: 155,986,009 (GRCm38)	L42S		Het
Clnk	C	A	5: 38,768,158 (GRCm38)	R100L	probably damaging	Het
Cpvl	A	G	6: 53,896,491 (GRCm38)	V420A	possibly damaging	Het
Dicer1	C	A	12: 104,706,697 (GRCm38)	G825V	probably damaging	Het
Dmxl2	T	C	9: 54,380,939 (GRCm38)	Y2628C	probably damaging	Het
Dnah7b	T	A	1: 46,137,474 (GRCm38)	H751Q	probably benign	Het
Dnhd1	C	A	7: 105,721,095 (GRCm38)	R4576S	possibly damaging	Het
Dzip1	A	T	14: 118,879,498 (GRCm38)	D775E	probably benign	Het
Erich3	T	A	3: 154,748,331 (GRCm38)	M381K	probably benign	Het
Fam193a	A	G	5: 34,465,791 (GRCm38)	D1241G	possibly damaging	Het
Gbx2	A	G	1: 89,928,984 (GRCm38)	L228P	probably benign	Het
Ggt7	A	T	2: 155,506,501 (GRCm38)	M77K	possibly damaging	Het
Gm12800	A	C	4: 101,911,813 (GRCm38)	I454L	probably benign	Het
Gpr26	T	A	7: 131,974,348 (GRCm38)	I247K	probably damaging	Het
Grip1	A	G	10: 120,038,397 (GRCm38)	T745A	probably damaging	Het
Gusb	A	T	5: 130,000,405 (GRCm38)	H178Q	probably benign	Het
Hacl1	T	C	14: 31,616,480 (GRCm38)	Y380C	probably damaging	Het
Hdac9	T	C	12: 34,390,240 (GRCm38)	H380R	possibly damaging	Het
Icam4	T	A	9: 21,029,994 (GRCm38)	L143Q	probably damaging	Het
Ikbkb	T	A	8: 22,695,236 (GRCm38)	I43F	probably damaging	Het
Ints11	G	T	4: 155,886,939 (GRCm38)	K303N	probably damaging	Het
Itpa	A	T	2: 130,667,916 (GRCm38)	N16I	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,411,205 (GRCm38)		probably null	Het
Kat6a	T	A	8: 22,903,212 (GRCm38)	N235K	probably damaging	Het
Kmt2a	C	T	9: 44,820,603 (GRCm38)	V2806I	unknown	Het
Loxhd1	T	A	18: 77,384,941 (GRCm38)	F1051L	probably damaging	Het
Map2	A	G	1: 66,414,483 (GRCm38)	E844G	possibly damaging	Het
Mmp7	T	A	9: 7,697,748 (GRCm38)	Y261*	probably null	Het
Muc4	A	C	16: 32,756,194 (GRCm38)	M2023L	unknown	Het
Mybpc1	C	A	10: 88,542,372 (GRCm38)	G688V	probably damaging	Het
Myo3a	A	G	2: 22,241,143 (GRCm38)	T34A	probably damaging	Het
Nrxn2	A	G	19: 6,481,379 (GRCm38)	T683A	possibly damaging	Het
Nup160	A	G	2: 90,700,116 (GRCm38)	I444V	probably damaging	Het
Olfr1132	T	C	2: 87,635,313 (GRCm38)	M145V	probably benign	Het
Olfr1291-ps1	A	C	2: 111,499,853 (GRCm38)	K200N	possibly damaging	Het
Olfr329-ps	A	T	11: 58,542,867 (GRCm38)	M216K	possibly damaging	Het
Olfr329-ps	A	T	11: 58,542,640 (GRCm38)	S292T	probably damaging	Het
Pcdha1	A	G	18: 36,932,167 (GRCm38)	E628G	probably damaging	Het
Pcdha12	T	C	18: 37,022,351 (GRCm38)	S708P	probably damaging	Het
Pira2	A	T	7: 3,841,697 (GRCm38)	F445Y	probably benign	Het
Pkd1l2	A	G	8: 117,054,860 (GRCm38)		probably null	Het
Pla2g6	T	C	15: 79,297,314 (GRCm38)	D577G	probably damaging	Het
Pla2r1	G	T	2: 60,448,946 (GRCm38)	D763E	probably benign	Het
Psg18	A	T	7: 18,346,028 (GRCm38)	I416N	probably damaging	Het
Rapgef6	G	T	11: 54,626,588 (GRCm38)	V369F	probably damaging	Het
Rasal3	T	C	17: 32,396,793 (GRCm38)	E357G	probably damaging	Het
Rhbdl3	G	A	11: 80,330,621 (GRCm38)	R195Q	probably benign	Het
Rnf216	A	T	5: 143,098,444 (GRCm38)	M1K	probably null	Het
Rwdd2b	G	A	16: 87,436,745 (GRCm38)	L156F	probably benign	Het
Scn11a	T	A	9: 119,815,272 (GRCm38)	I141F	probably benign	Het
Sirt2	A	T	7: 28,782,859 (GRCm38)	T198S	probably benign	Het
Slc2a1	A	G	4: 119,132,447 (GRCm38)	N94D	probably damaging	Het
Slc33a1	A	G	3: 63,947,618 (GRCm38)	F407S	possibly damaging	Het
Slc38a4	A	C	15: 97,008,664 (GRCm38)	L356R	probably damaging	Het
Slc43a1	T	A	2: 84,856,871 (GRCm38)	L372Q	probably damaging	Het
Slc6a6	T	A	6: 91,739,965 (GRCm38)	I274N	probably damaging	Het
Smchd1	C	T	17: 71,411,911 (GRCm38)	G821D	probably damaging	Het
Spata33	T	C	8: 123,214,407 (GRCm38)	F65S	unknown	Het
Stx19	A	G	16: 62,822,204 (GRCm38)	T128A	probably benign	Het
Tas2r103	T	C	6: 133,036,849 (GRCm38)	M85V	probably benign	Het
Tas2r117	C	T	6: 132,803,522 (GRCm38)	L208F	probably damaging	Het
Tcirg1	A	T	19: 3,902,900 (GRCm38)	I233N	possibly damaging	Het
Uba6	C	A	5: 86,152,920 (GRCm38)	W192L	probably benign	Het
Ube3a	T	C	7: 59,288,777 (GRCm38)	I761T	probably damaging	Het
Unc80	T	C	1: 66,510,595 (GRCm38)	S671P	possibly damaging	Het
Usp8	A	G	2: 126,751,123 (GRCm38)	Q766R	probably damaging	Het
Vmn2r103	A	G	17: 19,812,052 (GRCm38)	N696S	probably damaging	Het
Vmn2r14	G	A	5: 109,220,220 (GRCm38)	T302I	probably benign	Het
Vmn2r50	G	A	7: 10,037,371 (GRCm38)	A801V	probably damaging	Het
Vmn2r85	T	G	10: 130,418,693 (GRCm38)	Q707H	probably damaging	Het
Wsb2	G	A	5: 117,363,722 (GRCm38)	V51M	probably benign	Het
Xdh	T	C	17: 73,939,836 (GRCm38)	T78A	probably benign	Het
Zfp442	T	C	2: 150,408,321 (GRCm38)	K554E	possibly damaging	Het

Other mutations in Rspry1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Rspry1	APN	8	94,622,980 (GRCm38)	intron	probably benign
IGL00158:Rspry1	APN	8	94,622,986 (GRCm38)	start codon destroyed	probably null	0.89
IGL01141:Rspry1	APN	8	94,649,855 (GRCm38)	missense	probably benign	0.00
IGL01860:Rspry1	APN	8	94,649,816 (GRCm38)	missense	probably benign	0.00
IGL02174:Rspry1	APN	8	94,633,140 (GRCm38)	missense	possibly damaging	0.84
IGL02819:Rspry1	APN	8	94,654,256 (GRCm38)	missense	probably benign	0.42
IGL02926:Rspry1	APN	8	94,649,811 (GRCm38)	missense	probably damaging	1.00
IGL03366:Rspry1	APN	8	94,650,334 (GRCm38)	missense	probably benign	0.00
R0570:Rspry1	UTSW	8	94,629,792 (GRCm38)	missense	probably damaging	1.00
R1833:Rspry1	UTSW	8	94,635,488 (GRCm38)	missense	probably damaging	1.00
R1988:Rspry1	UTSW	8	94,632,054 (GRCm38)	critical splice acceptor site	probably null
R2444:Rspry1	UTSW	8	94,623,107 (GRCm38)	missense	probably damaging	1.00
R3623:Rspry1	UTSW	8	94,649,777 (GRCm38)	missense	probably damaging	1.00
R3624:Rspry1	UTSW	8	94,649,777 (GRCm38)	missense	probably damaging	1.00
R4275:Rspry1	UTSW	8	94,649,761 (GRCm38)	missense	probably benign	0.00
R4888:Rspry1	UTSW	8	94,658,789 (GRCm38)	missense	probably benign	0.19
R5026:Rspry1	UTSW	8	94,650,303 (GRCm38)	missense	probably damaging	1.00
R5310:Rspry1	UTSW	8	94,623,185 (GRCm38)	missense	probably benign
R5374:Rspry1	UTSW	8	94,654,264 (GRCm38)	missense	probably benign	0.38
R5374:Rspry1	UTSW	8	94,623,008 (GRCm38)	missense	probably benign	0.00
R5387:Rspry1	UTSW	8	94,638,286 (GRCm38)	missense	possibly damaging	0.95
R5517:Rspry1	UTSW	8	94,636,760 (GRCm38)	splice site	probably null
R5631:Rspry1	UTSW	8	94,629,078 (GRCm38)	start codon destroyed	possibly damaging	0.79
R5653:Rspry1	UTSW	8	94,636,611 (GRCm38)	splice site	probably null
R6065:Rspry1	UTSW	8	94,622,987 (GRCm38)	start codon destroyed	probably null	0.98
R6220:Rspry1	UTSW	8	94,658,750 (GRCm38)	missense	probably damaging	1.00
R6276:Rspry1	UTSW	8	94,623,258 (GRCm38)	missense	probably damaging	1.00
R6821:Rspry1	UTSW	8	94,635,431 (GRCm38)	nonsense	probably null
R7390:Rspry1	UTSW	8	94,623,185 (GRCm38)	missense	probably benign
R7460:Rspry1	UTSW	8	94,650,335 (GRCm38)	missense	probably benign	0.00
R7644:Rspry1	UTSW	8	94,658,768 (GRCm38)	missense	probably benign	0.00
R7717:Rspry1	UTSW	8	94,623,122 (GRCm38)	missense	probably damaging	1.00
R7940:Rspry1	UTSW	8	94,623,007 (GRCm38)	missense	probably benign	0.22
R7978:Rspry1	UTSW	8	94,623,125 (GRCm38)	missense	probably damaging	0.98
R8087:Rspry1	UTSW	8	94,654,297 (GRCm38)	missense	probably benign	0.04
R8174:Rspry1	UTSW	8	94,649,822 (GRCm38)	missense	probably damaging	0.97
R8326:Rspry1	UTSW	8	94,639,589 (GRCm38)	missense	probably damaging	1.00
R8676:Rspry1	UTSW	8	94,632,119 (GRCm38)	missense	probably benign	0.01
R8715:Rspry1	UTSW	8	94,623,260 (GRCm38)	missense	probably damaging	0.98
R8869:Rspry1	UTSW	8	94,633,152 (GRCm38)	missense	probably damaging	0.97
R9253:Rspry1	UTSW	8	94,622,993 (GRCm38)	missense	probably damaging	1.00
R9281:Rspry1	UTSW	8	94,636,631 (GRCm38)	missense	probably damaging	1.00
R9699:Rspry1	UTSW	8	94,654,229 (GRCm38)	missense	probably benign	0.01
X0010:Rspry1	UTSW	8	94,629,801 (GRCm38)	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