Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01860:Rspry1'

178300

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rspry1

Ensembl Gene

ENSMUSG00000050079

Gene Name

ring finger and SPRY domain containing 1

Synonyms

4930470D19Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.514) question?

Stock #

IGL01860

Quality Score

Status

Chromosome

Chromosomal Location

94601937-94660275 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94649816 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 322 (N322S)

Ref Sequence

ENSEMBL: ENSMUSP00000148724 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000060389
AA Change: N446S

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

SMART Domains

Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: N446S

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 benign
Transcript: ENSMUST00000211983
AA Change: N446S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212729
AA Change: N322S

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

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,952,416	N248Y	possibly damaging	Het
Adamts13	G	A	2: 26,978,011	V128M	probably damaging	Het
Agl	A	T	3: 116,772,526		probably benign	Het
Arfgef1	A	T	1: 10,154,396	M1405K	probably damaging	Het
Atp6v1a	G	T	16: 44,099,956	L426M	probably damaging	Het
Cdc123	A	G	2: 5,803,941		probably benign	Het
Cept1	A	G	3: 106,531,128		probably benign	Het
Cipc	T	A	12: 86,960,273	D60E	probably damaging	Het
Exosc3	A	G	4: 45,319,659	I121T	probably benign	Het
Fam155a	A	T	8: 9,207,831	V439E	probably damaging	Het
Fam26f	A	G	10: 34,126,565	V174A	probably damaging	Het
Fbln5	A	G	12: 101,809,869	Y89H	probably damaging	Het
Fhod3	T	A	18: 24,903,948	I154N	probably damaging	Het
Fhod3	T	C	18: 24,897,681	F128L	probably damaging	Het
Fpgt	T	C	3: 155,086,846	T515A	probably benign	Het
Gas2l2	G	A	11: 83,422,080	T802I	probably benign	Het
Gm10424	G	A	5: 95,270,651	T162I	probably benign	Het
Gm10710	T	A	3: 83,127,849		probably benign	Het
Gm11639	T	C	11: 104,690,921	S30P	probably benign	Het
Hdac4	A	G	1: 91,933,695	M1051T	probably benign	Het
Heatr5b	A	G	17: 78,808,480	V849A	probably damaging	Het
Helb	T	C	10: 120,102,833	I579V	probably damaging	Het
Hspa1l	A	G	17: 34,978,811	I609V	probably benign	Het
Itgam	C	A	7: 128,070,943	Q136K	probably benign	Het
Kcnc1	T	C	7: 46,428,130	L452P	probably damaging	Het
Ltbp4	T	A	7: 27,319,646	T1083S	probably damaging	Het
Mki67	T	C	7: 135,698,957	I1449M	probably damaging	Het
Mpp5	T	C	12: 78,830,907	V531A	possibly damaging	Het
P2rx5	T	A	11: 73,165,559	V103E	probably damaging	Het
Pappa	A	G	4: 65,205,092	D888G	possibly damaging	Het
Pcdhb21	G	T	18: 37,514,905	M362I	probably benign	Het
Pde1a	A	G	2: 79,875,284	S333P	probably damaging	Het
Ppm1j	A	G	3: 104,784,092	T299A	probably damaging	Het
Ptdss2	A	G	7: 141,152,836	E168G	probably damaging	Het
Slc7a9	T	A	7: 35,457,060	V309E	probably damaging	Het
Slco6c1	A	G	1: 97,075,823		probably benign	Het
Tas2r120	T	A	6: 132,657,264	M103K	probably damaging	Het
Tbxas1	T	A	6: 38,948,627	F59I	probably damaging	Het
Tfpi	A	G	2: 84,444,034	S203P	probably benign	Het
Tram2	T	C	1: 21,003,859	N285S	possibly damaging	Het
Trio	T	A	15: 27,846,810	D980V	probably damaging	Het
Trpv5	T	A	6: 41,660,295	H419L	probably damaging	Het
Usp28	C	T	9: 49,032,243	R361*	probably null	Het
Vmn1r6	T	A	6: 57,002,689	L112*	probably null	Het
Vmn2r12	A	T	5: 109,092,159	N179K	probably benign	Het
Vmn2r82	G	T	10: 79,378,857	A225S	probably benign	Het
Zcchc4	A	G	5: 52,808,356	Y334C	probably damaging	Het
Zfp609	T	C	9: 65,702,834	E949G	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
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
R8326:Rspry1	UTSW	8	94639589	missense	probably damaging	1.00
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
X0010:Rspry1	UTSW	8	94629801	missense	possibly damaging	0.76

Posted On

2014-05-07