Mutagenetix > Incidental Mutation

Incidental Mutation 'R5310:Rspry1'

404790

Institutional Source

Beutler Lab

Gene Symbol

Rspry1

Ensembl Gene

ENSMUSG00000050079

Gene Name

ring finger and SPRY domain containing 1

Synonyms

4930470D19Rik

MMRRC Submission

042893-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.505) question?

Stock #

R5310 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94601937-94660275 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94623185 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 67 (T67I)

Ref Sequence

ENSEMBL: ENSMUSP00000148737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060389] [ENSMUST00000121101] [ENSMUST00000211983] [ENSMUST00000212729]

AlphaFold

Q8BVR6

Predicted Effect

probably benign
Transcript: ENSMUST00000060389
AA Change: T67I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: T67I

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: ENSMUST00000121101
AA Change: T67I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112482
Gene: ENSMUSG00000050079
AA Change: T67I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211983
AA Change: T67I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212729

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

Validation Efficiency

100% (74/74)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	C	1: 26,685,088	V337G	probably benign	Het
Abca15	A	T	7: 120,332,616	I31L	possibly damaging	Het
Abca17	T	C	17: 24,281,230	K1329R	probably benign	Het
Acap2	A	G	16: 31,133,609	Y197H	probably benign	Het
Adgrv1	A	G	13: 81,476,690	V3720A	possibly damaging	Het
Alms1	T	A	6: 85,615,368	S870T	possibly damaging	Het
Anapc4	A	G	5: 52,859,159	E493G	probably benign	Het
Ap2a1	A	G	7: 44,906,065		probably null	Het
Arhgef38	A	G	3: 133,116,466	L179P	probably damaging	Het
Bicral	T	C	17: 46,813,983	D630G	possibly damaging	Het
Ccdc97	A	T	7: 25,715,776	L154Q	probably damaging	Het
Cd40	T	C	2: 165,063,563		probably null	Het
Celsr1	T	A	15: 85,926,222	N2155I	possibly damaging	Het
Cemip	A	T	7: 83,992,033	L261H	probably damaging	Het
Cep57	G	A	9: 13,818,868	H98Y	probably damaging	Het
Chrna7	A	T	7: 63,106,057	L247Q	probably damaging	Het
Cyp2c40	T	A	19: 39,778,030	M374L	probably damaging	Het
Cyp4f13	T	C	17: 32,925,821	D372G	probably damaging	Het
Dazl	C	A	17: 50,281,283	S288I	probably damaging	Het
Dnah5	T	C	15: 28,311,328	F1818L	probably damaging	Het
Echdc1	T	C	10: 29,334,208	V143A	possibly damaging	Het
Eif4enif1	T	A	11: 3,242,687	H838Q	probably damaging	Het
Erich3	A	T	3: 154,763,580	D1223V	probably damaging	Het
Fbxl2	A	G	9: 113,986,508	I229T	possibly damaging	Het
Gfm2	G	A	13: 97,163,151	A406T	probably damaging	Het
Ggnbp2	A	G	11: 84,869,968	M1T	probably null	Het
Glb1l2	C	T	9: 26,796,866		probably benign	Het
Gnl2	A	G	4: 125,052,840	K618R	probably benign	Het
Greb1	A	T	12: 16,716,759	I346K	probably benign	Het
Greb1l	G	A	18: 10,542,427	E1341K	probably damaging	Het
Gtse1	A	G	15: 85,873,792	Q533R	probably benign	Het
Hemgn	A	G	4: 46,403,927	S23P	possibly damaging	Het
Htr6	G	T	4: 139,061,666	H359Q	probably damaging	Het
Ifit1	T	C	19: 34,648,804	F447L	probably benign	Het
Kansl1	T	C	11: 104,424,858	Y118C	possibly damaging	Het
Khk	G	A	5: 30,927,029	V118M	probably benign	Het
Klra17	T	A	6: 129,868,708	K181M	probably damaging	Het
Lbh	T	C	17: 72,921,292		probably null	Het
Lmo2	T	C	2: 103,976,100	I108T	probably damaging	Het
Mgat5	T	A	1: 127,387,514		probably null	Het
Mink1	T	C	11: 70,607,343	V525A	probably benign	Het
Myo10	C	A	15: 25,778,078		probably null	Het
Nlrp2	T	C	7: 5,325,008	N682S	probably benign	Het
Nr2e3	G	A	9: 59,949,334		probably benign	Het
Olfr1415	T	C	1: 92,491,036	T240A	probably damaging	Het
Olfr467	T	C	7: 107,814,964	C129R	probably damaging	Het
Pabpc4l	T	C	3: 46,446,841	T123A	probably benign	Het
Pfas	G	A	11: 68,988,021	S1319F	probably damaging	Het
Phf3	T	C	1: 30,803,806	K2024R	probably damaging	Het
Pld4	G	A	12: 112,768,612	C501Y	probably damaging	Het
Psg16	C	T	7: 17,090,635	R115W	probably damaging	Het
Rab3gap1	G	A	1: 127,942,373		probably null	Het
Rimkla	C	A	4: 119,477,852	K111N	probably damaging	Het
Rrm2b	T	C	15: 37,927,327	E113G	probably damaging	Het
Skint6	C	A	4: 113,184,768	E292*	probably null	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slc13a1	A	G	6: 24,134,374	M170T	probably benign	Het
Slc15a5	T	C	6: 138,073,036	N127S	probably benign	Het
Slc39a10	G	A	1: 46,836,125	H6Y	probably damaging	Het
Sugct	A	T	13: 17,252,560	C338*	probably null	Het
Tbk1	A	T	10: 121,556,051	M486K	probably benign	Het
Terf1	A	T	1: 15,805,685	E3V	probably damaging	Het
Thoc5	T	A	11: 4,910,648	Y246N	probably damaging	Het
Tmem167b	G	A	3: 108,562,099		probably benign	Het
Tmem57	T	C	4: 134,837,019		probably benign	Het
Tmtc1	T	A	6: 148,355,412		probably benign	Het
Zfp322a	A	T	13: 23,357,362	M70K	possibly damaging	Het
Zfp979	A	T	4: 147,613,918	H111Q	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
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
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'- GTGTTCTTAGCAAGCAGAAGCC -3'
(R):5'- AGTCCAAAAGCGGTGGTTCC -3'

Sequencing Primer
(F):5'- CTTAGCAAGCAGAAGCCTTGGTC -3'
(R):5'- TTTCCATGACACTGGAGTCGACAG -3'

Posted On

2016-07-22