Mutagenetix > Incidental Mutation

Incidental Mutation 'R9253:Rspry1'

701660

Institutional Source

Beutler Lab

Gene Symbol

Rspry1

Ensembl Gene

ENSMUSG00000050079

Gene Name

ring finger and SPRY domain containing 1

Synonyms

4930470D19Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9253 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94601937-94660275 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94622993 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 3 (V3D)

Ref Sequence

ENSEMBL: ENSMUSP00000057275 (fasta)

Gene Model

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

AlphaFold

Q8BVR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000060389
AA Change: V3D

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

SMART Domains

Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: V3D

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 damaging
Transcript: ENSMUST00000121101
AA Change: V3D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112482
Gene: ENSMUSG00000050079
AA Change: V3D

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 damaging
Transcript: ENSMUST00000211983
AA Change: V3D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212729

Meta Mutation Damage Score

0.7609

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

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
Adamts19	A	G	18: 58,969,941 (GRCm38)	N685D	probably damaging	Het
Adh4	A	T	3: 138,424,099 (GRCm38)	I229F	probably damaging	Het
Aldh3b1	T	A	19: 3,915,315 (GRCm38)	S399C	probably damaging	Het
Arhgef28	C	T	13: 97,988,271 (GRCm38)	G501D	probably benign	Het
Asb1	C	A	1: 91,540,829 (GRCm38)	T6N	unknown	Het
Asb18	C	T	1: 89,954,463 (GRCm38)	V382I	probably benign	Het
AU041133	T	C	10: 82,151,386 (GRCm38)	I291T	probably benign	Het
B4galnt2	C	T	11: 95,868,350 (GRCm38)		silent	Het
Bcl7c	T	C	7: 127,707,231 (GRCm38)		probably benign	Het
Brinp1	T	C	4: 68,792,846 (GRCm38)	N375S	possibly damaging	Het
C6	A	G	15: 4,735,197 (GRCm38)	Q125R	probably benign	Het
Card14	T	C	11: 119,321,933 (GRCm38)	S108P	probably benign	Het
Clec4a2	C	A	6: 123,123,649 (GRCm38)	T21N	probably damaging	Het
Cntnap2	C	T	6: 46,001,178 (GRCm38)	L256F	probably benign	Het
Cobll1	G	A	2: 65,151,159 (GRCm38)	T29I	probably benign	Het
Coq4	A	T	2: 29,795,421 (GRCm38)	D149V	probably damaging	Het
Dync1i1	T	C	6: 5,769,698 (GRCm38)	L91S	probably benign	Het
Fat2	T	A	11: 55,310,571 (GRCm38)	D559V	probably damaging	Het
Gm4779	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	X: 101,793,311 (GRCm38)		probably benign	Het
Gm996	T	C	2: 25,577,160 (GRCm38)	H913R	possibly damaging	Het
Gsdmc	A	T	15: 63,804,558 (GRCm38)	V12E	probably damaging	Het
H2-Ab1	T	C	17: 34,267,404 (GRCm38)	S146P	probably damaging	Het
Heatr5b	A	G	17: 78,827,994 (GRCm38)	V236A	probably benign	Het
Hfe2	T	C	3: 96,528,394 (GRCm38)	S323P	probably benign	Het
Hmgcr	C	T	13: 96,660,137 (GRCm38)	C215Y	probably damaging	Het
L3mbtl1	G	T	2: 162,947,712 (GRCm38)	A57S	probably benign	Het
Lilr4b	G	A	10: 51,481,767 (GRCm38)	V186I	probably damaging	Het
Map1a	T	C	2: 121,302,342 (GRCm38)	V1213A	probably benign	Het
Marf1	T	C	16: 14,117,308 (GRCm38)	E1532G	probably damaging	Het
Mcm6	T	C	1: 128,351,527 (GRCm38)	Y174C	probably damaging	Het
Miga2	T	A	2: 30,371,227 (GRCm38)	V178E	probably benign	Het
Myh11	T	A	16: 14,256,495 (GRCm38)	I174F		Het
Ndufv1	G	T	19: 4,009,412 (GRCm38)	A211E	probably damaging	Het
Nicn1	C	T	9: 108,294,509 (GRCm38)	R163C	possibly damaging	Het
Nlgn3	T	C	X: 101,308,784 (GRCm38)	V179A	probably damaging	Het
Nrp1	T	C	8: 128,502,663 (GRCm38)	V874A	possibly damaging	Het
Nsf	C	T	11: 103,913,316 (GRCm38)	G197S	probably null	Het
Olfr118	A	T	17: 37,672,746 (GRCm38)	H241L	probably benign	Het
Olfr1395	T	C	11: 49,148,995 (GRCm38)	M246T	probably damaging	Het
Pacs2	A	G	12: 113,050,517 (GRCm38)	D196G	probably benign	Het
Pbxip1	A	G	3: 89,443,705 (GRCm38)	D118G	probably benign	Het
Pcdhb11	A	T	18: 37,421,476 (GRCm38)		probably benign	Het
Pgk2	C	T	17: 40,208,342 (GRCm38)	G65D	probably damaging	Het
Plcd3	T	C	11: 103,079,634 (GRCm38)	D193G	probably benign	Het
Plcl2	T	G	17: 50,608,099 (GRCm38)	M712R	probably damaging	Het
Plxna1	G	A	6: 89,357,540 (GRCm38)	Q36*	probably null	Het
Plxnb2	A	G	15: 89,167,812 (GRCm38)	V68A	probably benign	Het
Polr2b	A	G	5: 77,345,377 (GRCm38)	I1069V	probably benign	Het
Rbfox1	A	G	16: 7,294,109 (GRCm38)	T200A	probably benign	Het
Serpinb6d	T	C	13: 33,671,222 (GRCm38)	M293T	probably damaging	Het
Slc4a8	A	G	15: 100,783,032 (GRCm38)	R72G	probably benign	Het
Smarca5	A	C	8: 80,719,715 (GRCm38)	L452W	probably damaging	Het
Srcin1	T	C	11: 97,525,551 (GRCm38)	K952E	probably damaging	Het
Synpo2l	G	T	14: 20,666,670 (GRCm38)	Q79K	possibly damaging	Het
Tmem174	T	C	13: 98,637,295 (GRCm38)	E9G	possibly damaging	Het
Tmem270	T	C	5: 134,901,790 (GRCm38)	T206A	probably damaging	Het
Ttn	T	A	2: 76,732,607 (GRCm38)	T28668S	possibly damaging	Het
Vmn1r118	A	T	7: 20,911,892 (GRCm38)	S152R	possibly damaging	Het
Vmn2r25	T	A	6: 123,840,001 (GRCm38)	Q207L	probably damaging	Het
Vmn2r81	T	A	10: 79,293,748 (GRCm38)	S824R	probably damaging	Het
Vps54	G	A	11: 21,308,771 (GRCm38)	V733I	probably benign	Het
Zfp518b	G	T	5: 38,672,258 (GRCm38)	D801E	probably benign	Het
Zgrf1	C	A	3: 127,598,779 (GRCm38)	P1316Q	probably damaging	Het
Zzef1	C	A	11: 72,848,637 (GRCm38)		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
R0570:Rspry1	UTSW	8	94,629,792 (GRCm38)	missense	probably damaging	1.00
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
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'- AGTGATTGAGTAGTCAAGACCTTC -3'
(R):5'- AGGGACTGTACTGTTCTCAGC -3'

Sequencing Primer
(F):5'- CTTTCTCTTTTCCTCTCTTGTAGAAC -3'
(R):5'- GACTGTACTGTTCTCAGCCTGTTG -3'

Posted On

2022-03-25