Mutagenetix > Incidental Mutation

Incidental Mutation 'R8326:Rspry1'

644109

Institutional Source

Beutler Lab

Gene Symbol

Rspry1

Ensembl Gene

ENSMUSG00000050079

Gene Name

ring finger and SPRY domain containing 1

Synonyms

4930470D19Rik

MMRRC Submission

067726-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.505) question?

Stock #

R8326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94601937-94660275 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94639589 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 362 (Y362H)

Ref Sequence

ENSEMBL: ENSMUSP00000057275 (fasta)

Gene Model

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

AlphaFold

Q8BVR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000060389
AA Change: Y362H

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

SMART Domains

Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: Y362H

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: ENSMUST00000211983
AA Change: Y362H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212729
AA Change: Y238H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,827,554	T35A		Het
Adgrv1	C	T	13: 81,445,343	R4175H	probably damaging	Het
AI314180	G	T	4: 58,847,093	Q490K	probably damaging	Het
Akt3	T	C	1: 177,050,045	N386D	possibly damaging	Het
Aox2	A	T	1: 58,295,887	H282L	probably benign	Het
Asb7	G	T	7: 66,659,927	N180K	possibly damaging	Het
Cdh23	T	C	10: 60,438,812	S500G	possibly damaging	Het
Cubn	C	T	2: 13,306,463	E3084K	probably benign	Het
Cyp2r1	G	A	7: 114,553,170	T184I	probably damaging	Het
Dclk3	A	G	9: 111,467,534	R49G	probably damaging	Het
Dcp1a	C	T	14: 30,519,570	Q446*	probably null	Het
Dnah9	A	G	11: 66,117,626	I791T	probably benign	Het
Dock10	A	T	1: 80,606,175	V189D	possibly damaging	Het
Dsg4	A	G	18: 20,449,731	E142G	probably benign	Het
Dsp	A	T	13: 38,191,635	D1132V	probably damaging	Het
Dync2h1	A	G	9: 7,147,771	M953T	probably benign	Het
Ero1l	T	C	14: 45,294,348	H251R	probably damaging	Het
Fer1l5	A	G	1: 36,376,760	Y124C	probably benign	Het
Frmpd2	C	A	14: 33,511,035	P404Q	probably damaging	Het
Gpr87	G	T	3: 59,194,974		probably benign	Het
Gse1	T	C	8: 120,578,580	Y1217H	unknown	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Irf9	T	A	14: 55,605,753	D137E	probably benign	Het
Jup	G	T	11: 100,381,745	N280K	probably benign	Het
Kcna7	T	C	7: 45,409,341	F351L	probably damaging	Het
Klk13	A	T	7: 43,726,712	R270S	probably benign	Het
Msh6	C	T	17: 87,986,912	R1032C	probably damaging	Het
Myo5a	T	C	9: 75,217,989	V1855A	probably damaging	Het
Neb	T	C	2: 52,221,702	T138A	probably damaging	Het
Nfkbie	C	A	17: 45,559,308	T193K	probably damaging	Het
Nlrp4b	A	G	7: 10,718,544	K613E	probably benign	Het
Obox6	T	C	7: 15,833,556	E322G	possibly damaging	Het
Olfr111	T	G	17: 37,530,579	S201A	probably benign	Het
Olfr632	A	G	7: 103,937,602	D74G	probably damaging	Het
Olfr883	T	C	9: 38,026,718	M304T	probably benign	Het
Parn	A	T	16: 13,665,971	N36K	probably benign	Het
Ppp6r2	A	G	15: 89,280,447	E618G	probably benign	Het
Prdm13	A	G	4: 21,679,557	L311P	unknown	Het
Prkaa2	T	C	4: 105,036,298	T485A	possibly damaging	Het
Prmt2	G	T	10: 76,217,413	T256K	probably benign	Het
Slc16a14	A	T	1: 84,912,345	I413N	possibly damaging	Het
Slc8a1	T	C	17: 81,408,106	T821A	probably damaging	Het
Spock2	A	T	10: 60,126,955	K276N	probably damaging	Het
Synj1	A	T	16: 90,988,196	N257K	probably benign	Het
Taar7f	T	C	10: 24,049,913	L135P	possibly damaging	Het
Tmem132b	T	C	5: 125,787,554	F908S	probably damaging	Het
Tmem202	A	T	9: 59,519,217	V222D	probably benign	Het
Trim33	T	A	3: 103,311,454	C302*	probably null	Het
Tuba4a	G	A	1: 75,218,621	S1L		Het
Tyrp1	G	A	4: 80,850,684	E472K	probably benign	Het
V1ra8	A	G	6: 90,203,264	I150V	possibly damaging	Het
Vmn2r87	A	T	10: 130,472,311	M686K	possibly damaging	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly damaging	Het

Other mutations in Rspry1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Rspry1	APN	8	94622986	start codon destroyed	probably null	0.89
IGL00158:Rspry1	APN	8	94622980	intron	probably benign
IGL01141:Rspry1	APN	8	94649855	missense	probably benign	0.00
IGL01860:Rspry1	APN	8	94649816	missense	probably benign	0.00
IGL02174:Rspry1	APN	8	94633140	missense	possibly damaging	0.84
IGL02819:Rspry1	APN	8	94654256	missense	probably benign	0.42
IGL02926:Rspry1	APN	8	94649811	missense	probably damaging	1.00
IGL03366:Rspry1	APN	8	94650334	missense	probably benign	0.00
R0570:Rspry1	UTSW	8	94629792	missense	probably damaging	1.00
R1833:Rspry1	UTSW	8	94635488	missense	probably damaging	1.00
R1988:Rspry1	UTSW	8	94632054	critical splice acceptor site	probably null
R2444:Rspry1	UTSW	8	94623107	missense	probably damaging	1.00
R3623:Rspry1	UTSW	8	94649777	missense	probably damaging	1.00
R3624:Rspry1	UTSW	8	94649777	missense	probably damaging	1.00
R4275:Rspry1	UTSW	8	94649761	missense	probably benign	0.00
R4888:Rspry1	UTSW	8	94658789	missense	probably benign	0.19
R5026:Rspry1	UTSW	8	94650303	missense	probably damaging	1.00
R5310:Rspry1	UTSW	8	94623185	missense	probably benign
R5374:Rspry1	UTSW	8	94623008	missense	probably benign	0.00
R5374:Rspry1	UTSW	8	94654264	missense	probably benign	0.38
R5387:Rspry1	UTSW	8	94638286	missense	possibly damaging	0.95
R5517:Rspry1	UTSW	8	94636760	splice site	probably null
R5631:Rspry1	UTSW	8	94629078	start codon destroyed	possibly damaging	0.79
R5653:Rspry1	UTSW	8	94636611	splice site	probably null
R6065:Rspry1	UTSW	8	94622987	start codon destroyed	probably null	0.98
R6220:Rspry1	UTSW	8	94658750	missense	probably damaging	1.00
R6276:Rspry1	UTSW	8	94623258	missense	probably damaging	1.00
R6821:Rspry1	UTSW	8	94635431	nonsense	probably null
R7390:Rspry1	UTSW	8	94623185	missense	probably benign
R7460:Rspry1	UTSW	8	94650335	missense	probably benign	0.00
R7644:Rspry1	UTSW	8	94658768	missense	probably benign	0.00
R7717:Rspry1	UTSW	8	94623122	missense	probably damaging	1.00
R7768:Rspry1	UTSW	8	94629841	missense	probably damaging	1.00
R7940:Rspry1	UTSW	8	94623007	missense	probably benign	0.22
R7978:Rspry1	UTSW	8	94623125	missense	probably damaging	0.98
R8087:Rspry1	UTSW	8	94654297	missense	probably benign	0.04
R8174:Rspry1	UTSW	8	94649822	missense	probably damaging	0.97
R8676:Rspry1	UTSW	8	94632119	missense	probably benign	0.01
R8715:Rspry1	UTSW	8	94623260	missense	probably damaging	0.98
R8869:Rspry1	UTSW	8	94633152	missense	probably damaging	0.97
R9253:Rspry1	UTSW	8	94622993	missense	probably damaging	1.00
R9281:Rspry1	UTSW	8	94636631	missense	probably damaging	1.00
R9699:Rspry1	UTSW	8	94654229	missense	probably benign	0.01
X0010:Rspry1	UTSW	8	94629801	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- TCCCACCAGGAGCTTAAATAAGG -3'
(R):5'- TAAACGGTGCAGTGAGTCAC -3'

Sequencing Primer
(F):5'- GAAAATTCCATCCATCCTTCCCTATG -3'
(R):5'- GAATCTGGCAGCACCTAGTTACTG -3'

Posted On

2020-09-02