Mutagenetix > Incidental Mutation

Incidental Mutation 'R6821:Rspry1'

537626

Institutional Source

Beutler Lab

Gene Symbol

Rspry1

Ensembl Gene

ENSMUSG00000050079

Gene Name

ring finger and SPRY domain containing 1

Synonyms

4930470D19Rik

MMRRC Submission

044933-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.379) question?

Stock #

R6821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95328569-95386905 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 95362059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 113 (Q113*)

Ref Sequence

ENSEMBL: ENSMUSP00000148724 (fasta)

Gene Model

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

AlphaFold

Q8BVR6

Predicted Effect

probably null
Transcript: ENSMUST00000060389
AA Change: Q237*

SMART Domains

Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: Q237*

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 null
Transcript: ENSMUST00000211983
AA Change: Q237*

Predicted Effect

probably null
Transcript: ENSMUST00000212729
AA Change: Q113*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (63/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,277,268 (GRCm39)	I417T	probably benign	Het
Adamts12	A	C	15: 11,152,134 (GRCm39)	K208T	probably benign	Het
Adamts8	T	A	9: 30,867,922 (GRCm39)	L582Q	probably benign	Het
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Ano9	A	T	7: 140,687,169 (GRCm39)	F357I	possibly damaging	Het
Aox3	T	C	1: 58,189,547 (GRCm39)	V416A	probably benign	Het
Arhgap21	A	C	2: 20,853,659 (GRCm39)	F1901C	probably benign	Het
Atp8b2	A	T	3: 89,855,480 (GRCm39)	F506I	probably damaging	Het
Atp9b	A	T	18: 80,890,463 (GRCm39)	L292H	probably damaging	Het
C2cd5	A	G	6: 142,963,712 (GRCm39)	V891A	probably damaging	Het
Ccnt2	T	C	1: 127,731,072 (GRCm39)	S650P	probably damaging	Het
Cdhr3	T	A	12: 33,085,044 (GRCm39)	N791Y	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
D630003M21Rik	A	C	2: 158,046,694 (GRCm39)	L761R	probably damaging	Het
Draxin	G	T	4: 148,200,148 (GRCm39)	Q101K	possibly damaging	Het
Dtx3l	A	T	16: 35,753,430 (GRCm39)	L392Q	probably damaging	Het
Eif3d	A	G	15: 77,845,855 (GRCm39)	S389P	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epha4	T	C	1: 77,359,582 (GRCm39)	N757S	possibly damaging	Het
Fam228b	T	C	12: 4,813,083 (GRCm39)	I96V	probably benign	Het
Gars1	A	G	6: 55,056,323 (GRCm39)	E728G	probably benign	Het
Gldn	T	C	9: 54,246,054 (GRCm39)	M535T	probably benign	Het
Gm47985	A	G	1: 151,058,787 (GRCm39)	T143A	possibly damaging	Het
Gpr6	T	C	10: 40,947,004 (GRCm39)	T193A	probably benign	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Hecw1	T	A	13: 14,438,719 (GRCm39)	Y1315F	probably damaging	Het
Hs3st2	A	G	7: 121,099,745 (GRCm39)	D197G	possibly damaging	Het
Igsf9	T	C	1: 172,312,060 (GRCm39)	I2T	probably benign	Het
Ints9	A	G	14: 65,274,907 (GRCm39)	E621G	probably benign	Het
Itm2b	G	A	14: 73,603,907 (GRCm39)	P47S	probably benign	Het
Map10	A	G	8: 126,397,138 (GRCm39)	K177R	probably benign	Het
Mdh2	T	C	5: 135,818,525 (GRCm39)	F260S	possibly damaging	Het
Mtmr11	A	G	3: 96,077,723 (GRCm39)	T573A	probably benign	Het
Mycbp2	A	T	14: 103,376,845 (GRCm39)	I3812N	probably damaging	Het
Myo15a	A	G	11: 60,415,301 (GRCm39)	N3403S	probably damaging	Het
Nvl	G	A	1: 180,954,535 (GRCm39)	Q343*	probably null	Het
Ocstamp	A	T	2: 165,239,842 (GRCm39)	S115T	probably benign	Het
Or51ai2	A	T	7: 103,586,793 (GRCm39)	I69F	probably benign	Het
Otoa	G	A	7: 120,692,070 (GRCm39)		probably null	Het
Pcdhb20	A	T	18: 37,639,175 (GRCm39)	N567I	probably damaging	Het
Pgm5	A	T	19: 24,839,011 (GRCm39)	V48E	possibly damaging	Het
Phlpp1	T	A	1: 106,314,174 (GRCm39)	S1182R	probably damaging	Het
Pik3r4	T	A	9: 105,527,805 (GRCm39)	L386Q	probably damaging	Het
Pop1	A	G	15: 34,508,785 (GRCm39)	K287E	possibly damaging	Het
Pramel23	A	T	4: 143,425,874 (GRCm39)	L23*	probably null	Het
Rad54b	A	G	4: 11,612,777 (GRCm39)	D803G	probably damaging	Het
Rbm26	G	A	14: 105,354,400 (GRCm39)		probably benign	Het
Siah2	T	A	3: 58,599,191 (GRCm39)	S16C	probably benign	Het
Sirpa	C	A	2: 129,472,017 (GRCm39)	D481E	probably damaging	Het
Slc38a7	A	C	8: 96,571,548 (GRCm39)	D227E	probably benign	Het
Smc5	A	G	19: 23,220,151 (GRCm39)	V438A	probably benign	Het
Spast	A	G	17: 74,658,957 (GRCm39)	E108G	probably benign	Het
Speg	A	G	1: 75,394,547 (GRCm39)	E1752G	possibly damaging	Het
Tanc2	T	G	11: 105,777,316 (GRCm39)		probably null	Het
Tgfbi	T	C	13: 56,773,950 (GRCm39)	I243T	possibly damaging	Het
Tlr12	T	C	4: 128,510,685 (GRCm39)	S522G	possibly damaging	Het
Trav14-3	A	G	14: 54,000,929 (GRCm39)	I47V	probably benign	Het
Tsc22d4	T	C	5: 137,760,906 (GRCm39)	V109A	possibly damaging	Het
Ttl	G	A	2: 128,910,835 (GRCm39)	R73H	probably damaging	Het
Usp34	C	T	11: 23,317,491 (GRCm39)	T850I	possibly damaging	Het
Vdac3	T	C	8: 23,070,491 (GRCm39)	Y140C	probably damaging	Het
Vmn2r120	T	C	17: 57,843,659 (GRCm39)	R62G	probably benign	Het
Vmn2r17	T	A	5: 109,577,331 (GRCm39)	Y461N	probably damaging	Het
Wt1	T	A	2: 105,002,612 (GRCm39)	F493I	probably damaging	Het

Other mutations in Rspry1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Rspry1	APN	8	95,349,608 (GRCm39)	intron	probably benign
IGL00158:Rspry1	APN	8	95,349,614 (GRCm39)	start codon destroyed	probably null	0.89
IGL01141:Rspry1	APN	8	95,376,483 (GRCm39)	missense	probably benign	0.00
IGL01860:Rspry1	APN	8	95,376,444 (GRCm39)	missense	probably benign	0.00
IGL02174:Rspry1	APN	8	95,359,768 (GRCm39)	missense	possibly damaging	0.84
IGL02819:Rspry1	APN	8	95,380,884 (GRCm39)	missense	probably benign	0.42
IGL02926:Rspry1	APN	8	95,376,439 (GRCm39)	missense	probably damaging	1.00
IGL03366:Rspry1	APN	8	95,376,962 (GRCm39)	missense	probably benign	0.00
R0570:Rspry1	UTSW	8	95,356,420 (GRCm39)	missense	probably damaging	1.00
R1833:Rspry1	UTSW	8	95,362,116 (GRCm39)	missense	probably damaging	1.00
R1988:Rspry1	UTSW	8	95,358,682 (GRCm39)	critical splice acceptor site	probably null
R2444:Rspry1	UTSW	8	95,349,735 (GRCm39)	missense	probably damaging	1.00
R3623:Rspry1	UTSW	8	95,376,405 (GRCm39)	missense	probably damaging	1.00
R3624:Rspry1	UTSW	8	95,376,405 (GRCm39)	missense	probably damaging	1.00
R4275:Rspry1	UTSW	8	95,376,389 (GRCm39)	missense	probably benign	0.00
R4888:Rspry1	UTSW	8	95,385,417 (GRCm39)	missense	probably benign	0.19
R5026:Rspry1	UTSW	8	95,376,931 (GRCm39)	missense	probably damaging	1.00
R5310:Rspry1	UTSW	8	95,349,813 (GRCm39)	missense	probably benign
R5374:Rspry1	UTSW	8	95,380,892 (GRCm39)	missense	probably benign	0.38
R5374:Rspry1	UTSW	8	95,349,636 (GRCm39)	missense	probably benign	0.00
R5387:Rspry1	UTSW	8	95,364,914 (GRCm39)	missense	possibly damaging	0.95
R5517:Rspry1	UTSW	8	95,363,388 (GRCm39)	splice site	probably null
R5631:Rspry1	UTSW	8	95,355,706 (GRCm39)	start codon destroyed	possibly damaging	0.79
R5653:Rspry1	UTSW	8	95,363,239 (GRCm39)	splice site	probably null
R6065:Rspry1	UTSW	8	95,349,615 (GRCm39)	start codon destroyed	probably null	0.98
R6220:Rspry1	UTSW	8	95,385,378 (GRCm39)	missense	probably damaging	1.00
R6276:Rspry1	UTSW	8	95,349,886 (GRCm39)	missense	probably damaging	1.00
R7390:Rspry1	UTSW	8	95,349,813 (GRCm39)	missense	probably benign
R7460:Rspry1	UTSW	8	95,376,963 (GRCm39)	missense	probably benign	0.00
R7644:Rspry1	UTSW	8	95,385,396 (GRCm39)	missense	probably benign	0.00
R7717:Rspry1	UTSW	8	95,349,750 (GRCm39)	missense	probably damaging	1.00
R7768:Rspry1	UTSW	8	95,356,469 (GRCm39)	missense	probably damaging	1.00
R7940:Rspry1	UTSW	8	95,349,635 (GRCm39)	missense	probably benign	0.22
R7978:Rspry1	UTSW	8	95,349,753 (GRCm39)	missense	probably damaging	0.98
R8087:Rspry1	UTSW	8	95,380,925 (GRCm39)	missense	probably benign	0.04
R8174:Rspry1	UTSW	8	95,376,450 (GRCm39)	missense	probably damaging	0.97
R8326:Rspry1	UTSW	8	95,366,217 (GRCm39)	missense	probably damaging	1.00
R8676:Rspry1	UTSW	8	95,358,747 (GRCm39)	missense	probably benign	0.01
R8715:Rspry1	UTSW	8	95,349,888 (GRCm39)	missense	probably damaging	0.98
R8869:Rspry1	UTSW	8	95,359,780 (GRCm39)	missense	probably damaging	0.97
R9253:Rspry1	UTSW	8	95,349,621 (GRCm39)	missense	probably damaging	1.00
R9281:Rspry1	UTSW	8	95,363,259 (GRCm39)	missense	probably damaging	1.00
R9699:Rspry1	UTSW	8	95,380,857 (GRCm39)	missense	probably benign	0.01
X0010:Rspry1	UTSW	8	95,356,429 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- CCTAACACAATGTGATACTGCTG -3'
(R):5'- ATGCTTGGAATCTTAGCTGAGAAC -3'

Sequencing Primer
(F):5'- CACAATGTGATACTGCTGAAATATCC -3'
(R):5'- GCTGAGAACAATCTTTAGTTTTGTTC -3'

Posted On

2018-10-18