Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03366:Rspry1'

420084

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 non essential (E-score: 0.480) question?

Stock #

IGL03366

Quality Score

Status

Chromosome

Chromosomal Location

94601937-94660275 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 94650334 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 382 (I382L)

Ref Sequence

ENSEMBL: ENSMUSP00000148724 (fasta)

Gene Model

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

AlphaFold

Q8BVR6

Predicted Effect

probably benign
Transcript: ENSMUST00000060389
AA Change: I506L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: I506L

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: I506L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000212729
AA Change: I382L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2a2	T	A	7: 141,629,273	S793T	probably benign	Het
Btnl6	T	C	17: 34,508,179	D459G	probably damaging	Het
Cacna1g	C	A	11: 94,457,151	D704Y	probably damaging	Het
Cry2	A	G	2: 92,413,715	I371T	probably damaging	Het
Dock3	A	T	9: 107,005,433	F384I	probably benign	Het
Dpp4	T	C	2: 62,356,957		probably null	Het
Hecw1	G	T	13: 14,377,797	D72E	probably damaging	Het
Htt	T	A	5: 34,907,580	W3046R	probably damaging	Het
Hydin	A	T	8: 110,267,363	N10Y	unknown	Het
Ighv8-8	T	A	12: 115,294,140	T94S	probably benign	Het
Igkv4-58	A	G	6: 69,500,554	S20P	probably damaging	Het
Il4i1	T	C	7: 44,837,495		probably benign	Het
Kif13a	A	T	13: 46,764,623	S403T	probably benign	Het
Klhl40	T	C	9: 121,783,380	L616P	probably damaging	Het
Krt7	T	C	15: 101,427,610	L440P	possibly damaging	Het
Lpin1	A	G	12: 16,544,677	L755P	probably damaging	Het
Magee2	C	A	X: 104,855,528	E506*	probably null	Het
Mast3	G	A	8: 70,781,563	R143*	probably null	Het
Med12	T	A	X: 101,278,089	H459Q	probably benign	Het
Mmp3	T	C	9: 7,450,149	S294P	probably benign	Het
Muc6	T	C	7: 141,648,082	Y714C	probably damaging	Het
Myh2	T	C	11: 67,183,523	L662S	probably damaging	Het
Notch4	G	T	17: 34,572,568	C567F	probably damaging	Het
Nprl3	A	G	11: 32,250,256	I20T	probably damaging	Het
Olfr1123	A	T	2: 87,418,243	D65V	possibly damaging	Het
Pcdhb19	A	G	18: 37,498,612	T487A	possibly damaging	Het
Phlpp2	A	G	8: 109,940,835	E1332G	probably benign	Het
Pick1	T	C	15: 79,241,281	S113P	probably damaging	Het
Ptpru	T	C	4: 131,779,867	E1023G	probably damaging	Het
Sf3b3	A	C	8: 110,839,954	V248G	probably damaging	Het
Smg5	T	A	3: 88,346,452	Y126*	probably null	Het
Spert	A	G	14: 75,583,389	S299P	probably benign	Het
Spin1	T	C	13: 51,127,937	V22A	probably benign	Het
Stab1	C	T	14: 31,150,263	R1189Q	possibly damaging	Het
Sytl5	A	G	X: 9,963,700	D538G	probably damaging	Het
Taar7e	T	A	10: 24,037,915	M101K	probably damaging	Het
Taf4	A	G	2: 179,935,054	V578A	probably damaging	Het
Tmem266	G	T	9: 55,437,233	C383F	probably benign	Het
Trim34a	T	C	7: 104,260,933		probably null	Het
Vmn2r104	T	C	17: 20,029,604	T802A	probably damaging	Het
Vmn2r32	A	C	7: 7,464,030	I833S	probably damaging	Het
Vmn2r85	T	C	10: 130,426,459	D137G	probably benign	Het
Vps13c	C	T	9: 67,946,026	S2467L	probably benign	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
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
R9253:Rspry1	UTSW	8	94622993	missense	probably damaging	1.00
R9281:Rspry1	UTSW	8	94636631	missense	probably damaging	1.00
X0010:Rspry1	UTSW	8	94629801	missense	possibly damaging	0.76

Posted On

2016-08-02