Mutagenetix > Incidental Mutation

Incidental Mutation 'R0570:Rspry1'

46382

Institutional Source

Beutler Lab

Gene Symbol

Rspry1

Ensembl Gene

ENSMUSG00000050079

Gene Name

ring finger and SPRY domain containing 1

Synonyms

4930470D19Rik

MMRRC Submission

038761-MU

Accession Numbers

Essential gene?

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

Stock #

R0570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94601937-94660275 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94629792 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 25 (I25T)

Ref Sequence

ENSEMBL: ENSMUSP00000148724 (fasta)

Gene Model

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

AlphaFold

Q8BVR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000060389
AA Change: I149T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: I149T

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

SMART Domains

Protein: ENSMUSP00000112482
Gene: ENSMUSG00000050079

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

noncoding transcript
Transcript: ENSMUST00000154035

Predicted Effect

probably damaging
Transcript: ENSMUST00000211983
AA Change: I149T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212729
AA Change: I25T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.5731

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (85/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	C	A	8: 84,003,104 (GRCm38)		probably benign	Het
Aadacl3	C	T	4: 144,463,560 (GRCm38)	W57*	probably null	Het
Abca2	G	T	2: 25,447,405 (GRCm38)		probably null	Het
Abca3	A	G	17: 24,374,399 (GRCm38)	I257V	probably benign	Het
Adamts2	A	G	11: 50,776,136 (GRCm38)	D420G	probably damaging	Het
Adamts5	A	G	16: 85,899,247 (GRCm38)	F341L	probably damaging	Het
Ahnak	T	A	19: 9,013,698 (GRCm38)	D4115E	probably damaging	Het
Arhgap20	T	C	9: 51,840,451 (GRCm38)	S365P	possibly damaging	Het
Atrn	G	A	2: 130,980,134 (GRCm38)	V916I	probably benign	Het
Blmh	T	C	11: 76,965,825 (GRCm38)	V82A	probably damaging	Het
C1ra	A	T	6: 124,513,705 (GRCm38)	Y19F	probably benign	Het
Cactin	A	G	10: 81,323,233 (GRCm38)	E306G	probably damaging	Het
Celsr1	C	T	15: 85,903,365 (GRCm38)	R2724Q	probably benign	Het
Clca4b	T	C	3: 144,925,349 (GRCm38)	E250G	probably benign	Het
Col17a1	A	T	19: 47,665,878 (GRCm38)	S647T	possibly damaging	Het
Cope	T	A	8: 70,306,531 (GRCm38)	D74E	probably damaging	Het
Dsg1c	T	C	18: 20,270,378 (GRCm38)	I198T	probably damaging	Het
Elfn2	T	C	15: 78,673,234 (GRCm38)	N371S	probably damaging	Het
Elmo2	G	T	2: 165,304,919 (GRCm38)	A246D	probably benign	Het
Ewsr1	A	T	11: 5,085,935 (GRCm38)	M187K	possibly damaging	Het
Faap100	A	T	11: 120,374,288 (GRCm38)	S587R	possibly damaging	Het
Fam234b	C	T	6: 135,209,249 (GRCm38)	S85L	probably benign	Het
Fanca	A	T	8: 123,306,430 (GRCm38)	S292R	probably benign	Het
Fanci	G	A	7: 79,443,963 (GRCm38)	C1021Y	probably damaging	Het
Fhod3	T	C	18: 25,112,583 (GRCm38)	I1230T	probably benign	Het
Fmo5	T	C	3: 97,629,140 (GRCm38)	L27S	probably damaging	Het
Fmo9	A	G	1: 166,674,462 (GRCm38)	V147A	probably null	Het
Fnbp4	A	G	2: 90,752,957 (GRCm38)	Y309C	probably damaging	Het
Foxb1	T	C	9: 69,759,562 (GRCm38)	T229A	probably benign	Het
Gapvd1	A	G	2: 34,728,540 (GRCm38)	Y274H	probably damaging	Het
Gbp8	T	C	5: 105,017,675 (GRCm38)		probably null	Het
Gcn1l1	T	A	5: 115,592,421 (GRCm38)	L888Q	probably damaging	Het
Gm17490	T	C	2: 11,625,649 (GRCm38)		probably benign	Het
Gtf2ird2	T	A	5: 134,208,944 (GRCm38)		probably null	Het
H2-Q1	A	G	17: 35,321,397 (GRCm38)	T153A	possibly damaging	Het
Ina	A	C	19: 47,023,499 (GRCm38)	E452A	probably benign	Het
Kars	A	G	8: 111,994,862 (GRCm38)		probably null	Het
Kif1c	A	G	11: 70,704,465 (GRCm38)	E124G	probably damaging	Het
Lpin3	T	C	2: 160,904,024 (GRCm38)		probably benign	Het
Lrp1	A	T	10: 127,555,009 (GRCm38)	C3006*	probably null	Het
Lyst	T	C	13: 13,709,386 (GRCm38)	L2953P	probably benign	Het
Mb21d2	G	A	16: 28,929,572 (GRCm38)	A31V	probably benign	Het
Melk	T	C	4: 44,308,906 (GRCm38)	Y88H	probably damaging	Het
Myrf	A	G	19: 10,211,797 (GRCm38)	S857P	probably damaging	Het
Nos2	A	G	11: 78,935,361 (GRCm38)	I153M	possibly damaging	Het
Olfr732	T	G	14: 50,281,913 (GRCm38)	L113F	probably benign	Het
Otof	A	G	5: 30,371,881 (GRCm38)		probably benign	Het
Patl2	A	G	2: 122,125,308 (GRCm38)	V249A	probably damaging	Het
Pcgf5	A	G	19: 36,412,180 (GRCm38)	Y19C	probably benign	Het
Pcnt	A	T	10: 76,412,107 (GRCm38)	V951E	probably damaging	Het
Pcolce2	T	C	9: 95,638,657 (GRCm38)	V29A	probably benign	Het
Pdgfrb	A	T	18: 61,077,703 (GRCm38)	M761L	probably benign	Het
Pi16	A	T	17: 29,319,215 (GRCm38)	M1L	possibly damaging	Het
Pkd2	T	A	5: 104,455,605 (GRCm38)		probably benign	Het
Plcb2	A	G	2: 118,717,325 (GRCm38)	W474R	probably benign	Het
Psapl1	A	G	5: 36,204,280 (GRCm38)	D72G	possibly damaging	Het
Ptpn5	T	A	7: 47,078,933 (GRCm38)		probably benign	Het
Ptprg	A	G	14: 12,215,896 (GRCm38)	E1115G	probably damaging	Het
Rassf1	C	T	9: 107,557,966 (GRCm38)	T224I	probably damaging	Het
Rbpms2	T	A	9: 65,659,194 (GRCm38)	C168*	probably null	Het
Rhag	A	G	17: 40,828,913 (GRCm38)		probably benign	Het
Rhebl1	C	T	15: 98,881,153 (GRCm38)	V17I	probably benign	Het
Rnf130	A	T	11: 50,095,876 (GRCm38)	D349V	possibly damaging	Het
Rprd1a	A	G	18: 24,509,895 (GRCm38)	L60P	probably damaging	Het
Ruvbl2	C	T	7: 45,422,197 (GRCm38)	V421M	probably damaging	Het
Sap30	T	C	8: 57,482,966 (GRCm38)	N209D	possibly damaging	Het
Sfswap	T	C	5: 129,503,978 (GRCm38)		probably benign	Het
Slc1a2	G	A	2: 102,756,007 (GRCm38)	V319M	probably damaging	Het
Smad2	T	C	18: 76,289,179 (GRCm38)		probably benign	Het
Spdya	T	C	17: 71,562,590 (GRCm38)		probably null	Het
Stk39	G	A	2: 68,410,048 (GRCm38)	T113M	probably damaging	Het
Tanc1	A	G	2: 59,796,038 (GRCm38)		probably benign	Het
Tas2r122	T	C	6: 132,711,811 (GRCm38)	K40E	probably damaging	Het
Tph2	G	T	10: 115,174,134 (GRCm38)		probably benign	Het
Trip12	G	A	1: 84,751,548 (GRCm38)	S1083F	probably damaging	Het
Tsc2	A	T	17: 24,626,727 (GRCm38)	C206S	probably damaging	Het
Tsc22d4	A	G	5: 137,762,419 (GRCm38)	Q34R	possibly damaging	Het
Uroc1	G	T	6: 90,338,564 (GRCm38)	M142I	possibly damaging	Het
Uso1	T	C	5: 92,199,823 (GRCm38)	S766P	probably benign	Het
Usp21	G	A	1: 171,283,746 (GRCm38)		probably benign	Het
Usp48	T	A	4: 137,633,126 (GRCm38)	I658K	possibly damaging	Het
Vmn1r206	T	C	13: 22,620,413 (GRCm38)	H208R	probably damaging	Het
Vmn2r109	C	T	17: 20,540,675 (GRCm38)	A807T	probably damaging	Het
Zfp329	A	T	7: 12,810,452 (GRCm38)	C382S	probably damaging	Het
Zfp341	A	G	2: 154,646,068 (GRCm38)	E817G	probably benign	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
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
R7644:Rspry1	UTSW	8	94,658,768 (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'- CCAGTCATCAGACACCTGTAACAGAGT -3'
(R):5'- TGAAGACTGTCCTCGCAAAAGCAAA -3'

Sequencing Primer
(F):5'- GCCACAGCATAAAGGCCTAA -3'
(R):5'- cgctgagccatctctcc -3'

Posted On

2013-06-11