Mutagenetix > Incidental Mutation

Incidental Mutation 'R7644:Rspry1'

590431

Institutional Source

Beutler Lab

Gene Symbol

Rspry1

Ensembl Gene

ENSMUSG00000050079

Gene Name

ring finger and SPRY domain containing 1

Synonyms

4930470D19Rik

MMRRC Submission

045723-MU

Accession Numbers

Essential gene?

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

Stock #

R7644 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94601937-94660275 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94658768 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 567 (S567T)

Ref Sequence

ENSEMBL: ENSMUSP00000057275 (fasta)

Gene Model

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

AlphaFold

Q8BVR6

Predicted Effect

probably benign
Transcript: ENSMUST00000060389
AA Change: S567T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: S567T

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: ENSMUST00000211983
AA Change: S567T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000212729
AA Change: S443T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (86/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	C	T	2: 30,797,954 (GRCm38)	R209Q	possibly damaging	Het
2410089E03Rik	T	A	15: 8,223,127 (GRCm38)	D1944E	probably benign	Het
Abl2	A	G	1: 156,615,993 (GRCm38)	D24G	probably benign	Het
Adar	C	T	3: 89,745,519 (GRCm38)	A754V	probably benign	Het
Adcy8	C	T	15: 64,699,369 (GRCm38)	V1172I	possibly damaging	Het
Adgrl2	C	T	3: 148,839,153 (GRCm38)	V769M	probably damaging	Het
Akna	T	A	4: 63,395,397 (GRCm38)	Q163L	possibly damaging	Het
Alox15	C	T	11: 70,345,542 (GRCm38)	A511T	probably null	Het
Ano8	C	T	8: 71,484,830 (GRCm38)	G90D	probably damaging	Het
Aqp5	G	A	15: 99,594,226 (GRCm38)	R235H	probably damaging	Het
B3galt4	A	T	17: 33,950,445 (GRCm38)	V273E	probably damaging	Het
Ccdc125	C	T	13: 100,678,376 (GRCm38)		probably null	Het
Ccdc90b	A	G	7: 92,567,660 (GRCm38)	R47G	possibly damaging	Het
Celsr2	G	T	3: 108,413,490 (GRCm38)	L669I	probably damaging	Het
Clasp1	T	G	1: 118,512,750 (GRCm38)		probably null	Het
Clec4a2	C	T	6: 123,125,015 (GRCm38)	P43L	probably benign	Het
Cntn1	T	C	15: 92,310,009 (GRCm38)	I827T	probably benign	Het
Col9a1	G	T	1: 24,185,162 (GRCm38)	V142F	unknown	Het
Cts7	G	T	13: 61,356,968 (GRCm38)	Y23*	probably null	Het
Dcdc2a	T	A	13: 25,107,691 (GRCm38)	Y220N	probably damaging	Het
Dmxl1	T	G	18: 49,893,552 (GRCm38)	V1909G	probably benign	Het
Ehd2	G	A	7: 15,957,549 (GRCm38)	P286L	possibly damaging	Het
Elf3	G	T	1: 135,256,506 (GRCm38)	A208E	possibly damaging	Het
Eml5	A	G	12: 98,855,944 (GRCm38)	I775T	probably benign	Het
Ephb1	T	C	9: 101,936,194 (GRCm38)	T791A	probably damaging	Het
Fanci	C	A	7: 79,444,471 (GRCm38)	S1105*	probably null	Het
Fastkd1	T	A	2: 69,696,840 (GRCm38)		probably null	Het
Fat4	A	G	3: 39,010,241 (GRCm38)	E4782G	possibly damaging	Het
Fnta	T	C	8: 26,013,488 (GRCm38)	I90V	probably damaging	Het
Fosl1	C	T	19: 5,450,304 (GRCm38)	R84*	probably null	Het
Gdf2	T	C	14: 33,944,890 (GRCm38)	F190L	probably benign	Het
Gzmn	T	A	14: 56,167,319 (GRCm38)	Q88L	probably damaging	Het
Hat1	T	A	2: 71,410,181 (GRCm38)	L73Q	probably damaging	Het
Hdhd2	G	A	18: 76,944,175 (GRCm38)	G109E	possibly damaging	Het
Il22ra1	A	G	4: 135,733,035 (GRCm38)	N34S	probably damaging	Het
Ino80d	T	C	1: 63,058,771 (GRCm38)	T760A	probably benign	Het
Itga7	A	G	10: 128,953,501 (GRCm38)	D971G	probably benign	Het
Kdm6b	T	C	11: 69,400,206 (GRCm38)	N1574S	unknown	Het
Kel	T	C	6: 41,690,808 (GRCm38)	E400G	probably benign	Het
Kif22	G	A	7: 127,032,962 (GRCm38)	T350I	probably damaging	Het
Kif26b	A	G	1: 178,679,274 (GRCm38)	N305S	probably benign	Het
Klk12	A	C	7: 43,769,710 (GRCm38)	Q33P	probably damaging	Het
Klk1b24	G	A	7: 44,191,880 (GRCm38)		probably null	Het
Krtap31-1	T	A	11: 99,908,222 (GRCm38)	C84S	possibly damaging	Het
Ky	T	A	9: 102,537,773 (GRCm38)	S295T	probably benign	Het
Lpin3	T	A	2: 160,896,770 (GRCm38)	M214K	probably benign	Het
Mak	T	A	13: 41,030,110 (GRCm38)	N565Y	probably benign	Het
Mphosph6	T	C	8: 117,801,884 (GRCm38)	T7A	probably benign	Het
Muc6	G	C	7: 141,637,746 (GRCm38)	P2338R	probably damaging	Het
Myh11	T	C	16: 14,221,824 (GRCm38)	T814A		Het
Nmbr	T	C	10: 14,760,689 (GRCm38)	L134P	probably damaging	Het
Nup107	C	T	10: 117,770,470 (GRCm38)	V456M	probably damaging	Het
Olfr504	A	G	7: 108,565,442 (GRCm38)	S118P	possibly damaging	Het
Olfr936	C	A	9: 39,047,342 (GRCm38)	D26Y	probably damaging	Het
Pink1	A	T	4: 138,317,372 (GRCm38)	H351Q	probably damaging	Het
Piwil4	A	T	9: 14,734,415 (GRCm38)		probably null	Het
Pkd1l1	C	A	11: 8,875,758 (GRCm38)	V1498F		Het
Polb	A	G	8: 22,640,427 (GRCm38)	I161T	probably benign	Het
Polg	A	T	7: 79,451,668 (GRCm38)	L1097Q	probably damaging	Het
Prelp	T	C	1: 133,914,618 (GRCm38)	N263S	probably benign	Het
Pten	T	C	19: 32,811,834 (GRCm38)	C211R	probably damaging	Het
Ptprc	G	A	1: 138,067,907 (GRCm38)	A1012V	probably benign	Het
Ptprr	T	A	10: 116,048,228 (GRCm38)	H63Q	probably benign	Het
Rapsn	A	T	2: 91,041,954 (GRCm38)	H211L	possibly damaging	Het
Reln	T	C	5: 21,978,931 (GRCm38)	N1690S	probably benign	Het
Rpap2	A	G	5: 107,620,301 (GRCm38)	E335G	probably benign	Het
Sf3b1	G	A	1: 54,997,143 (GRCm38)	R924*	probably null	Het
Sftpb	G	A	6: 72,309,835 (GRCm38)	E241K	probably benign	Het
Smarca4	G	T	9: 21,655,654 (GRCm38)	A677S	probably benign	Het
Srrm2	G	A	17: 23,819,320 (GRCm38)	R1646Q	unknown	Het
St5	A	T	7: 109,556,793 (GRCm38)	L250*	probably null	Het
Tex15	T	A	8: 33,574,417 (GRCm38)	C1292S	probably benign	Het
Tmem140	A	G	6: 34,872,773 (GRCm38)	I75V	probably benign	Het
Trhr2	T	A	8: 122,357,322 (GRCm38)	Q313L	possibly damaging	Het
Trim35	A	G	14: 66,297,097 (GRCm38)	T10A	unknown	Het
Ttn	T	C	2: 76,919,780 (GRCm38)	I3642V	probably benign	Het
Ugt1a2	T	C	1: 88,200,785 (GRCm38)	L50P	probably damaging	Het
Unc13a	C	A	8: 71,634,538 (GRCm38)	V1522L	probably benign	Het
Usp33	A	G	3: 152,357,952 (GRCm38)	D21G	possibly damaging	Het
Vmn1r90	G	A	7: 14,561,691 (GRCm38)	Q161*	probably null	Het
Vmn2r117	A	T	17: 23,477,291 (GRCm38)	W381R	probably damaging	Het
Vmn2r16	G	C	5: 109,339,971 (GRCm38)	A237P	probably damaging	Het
Vmn2r74	A	G	7: 85,957,538 (GRCm38)	V200A	probably benign	Het
Yjefn3	C	T	8: 69,887,894 (GRCm38)	V227M	probably damaging	Het
Zfp652	T	C	11: 95,750,088 (GRCm38)	F280L	probably damaging	Het
Zfp748	G	A	13: 67,541,449 (GRCm38)	T564I	probably 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
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'- AAACAACTTCTTTAGCCTACAGAGG -3'
(R):5'- ATTCAGGGATGGCAAGTTGGATTAG -3'

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

Posted On

2019-10-24