Mutagenetix > Incidental Mutation

Incidental Mutation 'R6220:Rspry1'

503952

Institutional Source

Beutler Lab

Gene Symbol

Rspry1

Ensembl Gene

ENSMUSG00000050079

Gene Name

ring finger and SPRY domain containing 1

Synonyms

4930470D19Rik

MMRRC Submission

044352-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.456) question?

Stock #

R6220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94601937-94660275 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94658750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 437 (C437R)

Ref Sequence

ENSEMBL: ENSMUSP00000148724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060389] [ENSMUST00000211983] [ENSMUST00000212729]

AlphaFold

Q8BVR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000060389
AA Change: C561R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: C561R

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

noncoding transcript
Transcript: ENSMUST00000211941

Predicted Effect

probably damaging
Transcript: ENSMUST00000211983
AA Change: C561R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212729
AA Change: C437R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	T	C	19: 45,846,115 (GRCm38)	E618G	possibly damaging	Het
Abhd16b	A	G	2: 181,493,785 (GRCm38)	D160G	probably damaging	Het
Acap1	A	G	11: 69,889,679 (GRCm38)	F15S	probably damaging	Het
Adam30	A	T	3: 98,161,309 (GRCm38)	S153C	probably damaging	Het
Afp	A	T	5: 90,504,410 (GRCm38)	D420V	possibly damaging	Het
Ak9	T	A	10: 41,370,099 (GRCm38)	H729Q	unknown	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
Bcr	A	G	10: 75,062,292 (GRCm38)	T423A	probably benign	Het
Cc2d1b	C	T	4: 108,633,225 (GRCm38)	R825W	probably damaging	Het
Ctns	T	C	11: 73,193,128 (GRCm38)	T23A	probably benign	Het
Ddx54	T	A	5: 120,620,689 (GRCm38)	N332K	probably benign	Het
Dysf	T	A	6: 84,149,745 (GRCm38)	I1344N	probably damaging	Het
Elovl3	A	T	19: 46,134,500 (GRCm38)	M172L	probably benign	Het
Fbxo6	A	T	4: 148,149,522 (GRCm38)	I39N	probably damaging	Het
Filip1l	T	A	16: 57,569,989 (GRCm38)	N313K	probably benign	Het
Foxp2	C	A	6: 15,437,948 (GRCm38)	T716K	probably damaging	Het
Gm10549	C	A	18: 33,464,305 (GRCm38)		probably benign	Het
Gm10645	A	G	8: 83,165,757 (GRCm38)		probably benign	Het
Gm10735	T	C	13: 113,041,496 (GRCm38)		probably benign	Het
Gm4847	A	T	1: 166,634,972 (GRCm38)	D316E	probably damaging	Het
Gorasp2	T	C	2: 70,690,790 (GRCm38)	L388P	probably damaging	Het
Heatr5b	A	G	17: 78,773,677 (GRCm38)	L1382P	probably damaging	Het
Herc1	A	G	9: 66,433,788 (GRCm38)	Y1729C	probably damaging	Het
Ifi207	A	T	1: 173,729,546 (GRCm38)	L542H	probably damaging	Het
Ighv3-5	T	A	12: 114,262,718 (GRCm38)	N96I	probably damaging	Het
Isl1	T	C	13: 116,303,267 (GRCm38)	T182A	probably benign	Het
Jph4	T	C	14: 55,110,085 (GRCm38)	E421G	probably benign	Het
Lrrc45	T	C	11: 120,719,527 (GRCm38)	I488T	probably benign	Het
Mroh8	A	G	2: 157,233,163 (GRCm38)	I471T	probably benign	Het
Ms4a2	A	T	19: 11,617,563 (GRCm38)	D96E	probably damaging	Het
Mst1r	T	A	9: 107,907,348 (GRCm38)	N68K	probably benign	Het
Myo18b	A	G	5: 112,757,507 (GRCm38)	M2075T	possibly damaging	Het
Neb	T	C	2: 52,270,972 (GRCm38)	K2229R	probably null	Het
Nkx6-3	T	A	8: 23,153,971 (GRCm38)		probably null	Het
Nlrp1a	C	A	11: 71,142,338 (GRCm38)	S10I	probably benign	Het
Npas2	A	T	1: 39,336,061 (GRCm38)	T487S	probably benign	Het
Nrxn1	G	C	17: 91,088,476 (GRCm38)	T84R	probably benign	Het
Olfr730	C	A	14: 50,186,678 (GRCm38)	D180Y	probably damaging	Het
Otx1	C	A	11: 21,997,037 (GRCm38)	A91S	probably damaging	Het
Pcdh18	A	G	3: 49,745,251 (GRCm38)	C921R	probably damaging	Het
Pcdha9	A	G	18: 36,998,478 (GRCm38)	Y200C	probably damaging	Het
Pknox1	A	T	17: 31,603,203 (GRCm38)	R315*	probably null	Het
Rasgrp1	C	T	2: 117,284,929 (GRCm38)	W726*	probably null	Het
Rassf8	G	A	6: 145,817,133 (GRCm38)	R402H	probably damaging	Het
Rev3l	T	A	10: 39,822,779 (GRCm38)	Y1091N	probably damaging	Het
Riok3	T	G	18: 12,149,551 (GRCm38)	V349G	probably damaging	Het
Rps18	A	T	17: 33,955,136 (GRCm38)	V15E	probably damaging	Het
Rptor	A	T	11: 119,897,442 (GRCm38)	Y1323F	possibly damaging	Het
Sema5a	T	A	15: 32,686,729 (GRCm38)	Y996N	probably damaging	Het
Smarcad1	A	G	6: 65,114,329 (GRCm38)	I1011M	probably benign	Het
Supv3l1	A	T	10: 62,439,021 (GRCm38)	M295K	possibly damaging	Het
Sv2c	T	C	13: 95,976,626 (GRCm38)	D605G	probably damaging	Het
Teddm1b	G	A	1: 153,875,201 (GRCm38)	W252*	probably null	Het
Tes	T	A	6: 17,086,196 (GRCm38)	C29*	probably null	Het
Thsd4	A	G	9: 59,982,747 (GRCm38)	W856R	probably damaging	Het
Treml4	A	T	17: 48,264,848 (GRCm38)	D93V	possibly damaging	Het
Trim66	T	C	7: 109,483,093 (GRCm38)	T218A	probably damaging	Het
Tssk5	T	C	15: 76,373,773 (GRCm38)	D128G	probably damaging	Het
Ubr3	T	A	2: 70,020,475 (GRCm38)	W1746R	probably damaging	Het
Vmn2r11	T	C	5: 109,053,568 (GRCm38)	I357V	probably benign	Het
Vmn2r87	A	T	10: 130,479,938 (GRCm38)	D86E	probably benign	Het
Zfp184	T	G	13: 21,960,207 (GRCm38)	H694Q	probably damaging	Het
Zranb3	A	C	1: 127,999,404 (GRCm38)	F341L	probably benign	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
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
R7768:Rspry1	UTSW	8	94,629,841 (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'- AACAACTTCTTTAGCCTACAGAGG -3'
(R):5'- TGGCCATGGCTATAAGTTTCAATG -3'

Sequencing Primer
(F):5'- GGAGGAGGATTAAAGATAAAAATGGG -3'
(R):5'- CATTGGCTGGAATTGAGTA -3'

Posted On

2018-02-27