Mutagenetix > Incidental Mutation

Incidental Mutation 'R1833:Rspry1'

204959

Institutional Source

Beutler Lab

Gene Symbol

Rspry1

Ensembl Gene

ENSMUSG00000050079

Gene Name

ring finger and SPRY domain containing 1

Synonyms

4930470D19Rik

MMRRC Submission

039860-MU

Accession Numbers

Essential gene?

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

Stock #

R1833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94601937-94660275 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94635488 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 132 (T132A)

Ref Sequence

ENSEMBL: ENSMUSP00000148724 (fasta)

Gene Model

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

AlphaFold

Q8BVR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000060389
AA Change: T256A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: T256A

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: ENSMUST00000154035

Predicted Effect

probably damaging
Transcript: ENSMUST00000211983
AA Change: T256A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212729
AA Change: T132A

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

99% (83/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,556,860 (GRCm38)	D143V	unknown	Het
4930438A08Rik	C	T	11: 58,288,388 (GRCm38)	Q183*	probably null	Het
9230009I02Rik	A	G	11: 51,091,466 (GRCm38)		noncoding transcript	Het
Abhd12	T	A	2: 150,848,418 (GRCm38)	D119V	probably damaging	Het
Adam1b	A	G	5: 121,502,937 (GRCm38)	I15T	possibly damaging	Het
Agtpbp1	A	T	13: 59,465,983 (GRCm38)		probably null	Het
Arfgef1	G	C	1: 10,204,890 (GRCm38)	I312M	probably benign	Het
Arid4a	C	T	12: 71,075,466 (GRCm38)	L874F	possibly damaging	Het
Bcas3	G	A	11: 85,583,949 (GRCm38)	V317I	probably benign	Het
Ccr1	T	A	9: 123,964,089 (GRCm38)	I135F	probably damaging	Het
Ces2h	A	G	8: 105,020,373 (GRCm38)	E547G	possibly damaging	Het
Ces3b	T	A	8: 105,085,639 (GRCm38)	D173E	probably damaging	Het
Chd3	A	G	11: 69,354,123 (GRCm38)	L1197S	probably damaging	Het
Cngb1	A	G	8: 95,242,355 (GRCm38)	L1175P	probably damaging	Het
Cyp4f17	T	C	17: 32,524,210 (GRCm38)	F286L	probably benign	Het
Dclre1a	C	T	19: 56,541,500 (GRCm38)		probably null	Het
Dennd6a	T	A	14: 26,606,954 (GRCm38)	L44H	probably damaging	Het
Dhx16	A	G	17: 35,885,619 (GRCm38)	T560A	probably benign	Het
Dusp12	T	C	1: 170,874,453 (GRCm38)	M326V	probably benign	Het
Eif3k	T	C	7: 28,971,427 (GRCm38)	I180V	probably benign	Het
Erc1	A	G	6: 119,743,429 (GRCm38)	I437T	possibly damaging	Het
Fam71d	G	A	12: 78,715,506 (GRCm38)		probably benign	Het
Farp2	T	A	1: 93,576,364 (GRCm38)		probably benign	Het
Foxa3	A	G	7: 19,014,574 (GRCm38)	L209P	probably damaging	Het
Gen1	A	T	12: 11,248,351 (GRCm38)		probably benign	Het
Gm10305	A	G	4: 99,273,126 (GRCm38)	T91A	unknown	Het
Gm10436	T	C	12: 88,178,448 (GRCm38)	E44G	possibly damaging	Het
Gm14412	T	C	2: 177,315,790 (GRCm38)	D104G	probably benign	Het
Gm340	T	C	19: 41,584,948 (GRCm38)	I714T	probably benign	Het
Gm6900	T	C	7: 10,656,588 (GRCm38)		noncoding transcript	Het
Gpx1	A	T	9: 108,339,356 (GRCm38)	Y15F	possibly damaging	Het
H2-M10.3	T	C	17: 36,367,495 (GRCm38)	Y146C	probably damaging	Het
H2-Q7	C	A	17: 35,439,699 (GRCm38)	S104R	probably benign	Het
Hephl1	T	C	9: 15,076,928 (GRCm38)	Y628C	probably damaging	Het
Hspa5	T	A	2: 34,776,053 (GRCm38)	Y636*	probably null	Het
Htt	A	G	5: 34,905,748 (GRCm38)		probably benign	Het
Idh1	T	C	1: 65,161,114 (GRCm38)	I364V	probably benign	Het
Itgae	G	T	11: 73,117,162 (GRCm38)	A423S	possibly damaging	Het
Kng2	T	C	16: 23,012,052 (GRCm38)	N169S	possibly damaging	Het
Larp4b	C	T	13: 9,151,199 (GRCm38)	T369I	possibly damaging	Het
Lonrf2	G	A	1: 38,813,276 (GRCm38)	P165S	probably benign	Het
Magi2	G	T	5: 19,227,457 (GRCm38)	G57C	probably damaging	Het
Mdn1	T	A	4: 32,720,761 (GRCm38)	H2291Q	probably damaging	Het
Mgam	T	C	6: 40,654,718 (GRCm38)		probably null	Het
Micall2	A	G	5: 139,716,753 (GRCm38)	V245A	probably benign	Het
Mipep	T	G	14: 60,872,063 (GRCm38)	Y630D	probably damaging	Het
Msx2	A	T	13: 53,468,185 (GRCm38)	M263K	probably damaging	Het
Nectin2	G	T	7: 19,717,708 (GRCm38)	P467H	probably damaging	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nlrp4b	A	T	7: 10,725,936 (GRCm38)	M455L	probably benign	Het
Oaz3	TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG	TGGAGGCAGGAGCACGGGAGGCAG	3: 94,436,042 (GRCm38)		probably benign	Het
Olfr1258	T	A	2: 89,930,301 (GRCm38)	L164*	probably null	Het
Olfr286	T	A	15: 98,226,965 (GRCm38)	I227F	probably damaging	Het
Pcx	T	A	19: 4,619,104 (GRCm38)	V710E	probably damaging	Het
Pkn2	C	T	3: 142,821,647 (GRCm38)	R347Q	probably damaging	Het
Qsox1	C	T	1: 155,791,045 (GRCm38)	G233S	probably benign	Het
Rbl1	T	A	2: 157,195,555 (GRCm38)	N224I	probably damaging	Het
Sclt1	A	G	3: 41,727,111 (GRCm38)	V91A	probably damaging	Het
Sema4f	A	T	6: 82,918,559 (GRCm38)	L331H	probably benign	Het
Sf3b3	T	A	8: 110,817,566 (GRCm38)	Q814L	probably benign	Het
Slc19a2	T	G	1: 164,262,184 (GRCm38)	Y190D	probably damaging	Het
Smarcc1	T	A	9: 110,153,811 (GRCm38)	H204Q	possibly damaging	Het
Sox6	T	C	7: 115,777,093 (GRCm38)	K135E	probably damaging	Het
Tecpr1	T	C	5: 144,208,608 (GRCm38)	Q607R	probably damaging	Het
Tgfb1i1	A	G	7: 128,249,498 (GRCm38)		probably benign	Het
Tirap	T	G	9: 35,188,703 (GRCm38)	R228S	probably benign	Het
Tmem211	A	G	5: 113,234,569 (GRCm38)		probably benign	Het
Trp53bp2	T	A	1: 182,429,016 (GRCm38)	H50Q	probably damaging	Het
Try4	A	G	6: 41,303,431 (GRCm38)	H63R	probably damaging	Het
Vmn2r25	G	A	6: 123,839,684 (GRCm38)	P313S	probably benign	Het
Vps26a	A	C	10: 62,459,046 (GRCm38)	L250V	probably benign	Het
Vwf	A	G	6: 125,642,037 (GRCm38)	H1226R	probably benign	Het
Wdtc1	TCC	TC	4: 133,308,742 (GRCm38)		probably benign	Het
Zc3hav1l	A	T	6: 38,297,946 (GRCm38)		probably benign	Het
Zfp119b	T	G	17: 55,939,271 (GRCm38)	H305P	probably damaging	Het
Zfp326	C	T	5: 105,891,169 (GRCm38)	Q134*	probably null	Het
Zfp975	C	T	7: 42,661,839 (GRCm38)	R450Q	probably benign	Het
Zfyve26	A	T	12: 79,286,258 (GRCm38)	M313K	probably benign	Het
Zscan5b	T	C	7: 6,238,966 (GRCm38)	S395P	possibly damaging	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
R0570:Rspry1	UTSW	8	94,629,792 (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'- CTCTTGATTCTCCATTAGCCAAATG -3'
(R):5'- GATAATCACCATGCTTGGAATCTTAGC -3'

Sequencing Primer
(F):5'- AAAAGCGACTTTTCTGCTGTTC -3'
(R):5'- CCATGCTTGGAATCTTAGCTGAGAAC -3'

Posted On

2014-06-23