Mutagenetix > Incidental Mutation

Incidental Mutation 'R5261:Ky'

401446

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000035606

Gene Name

kyphoscoliosis peptidase

Synonyms

D9Mgc44e

MMRRC Submission

042830-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

R5261 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102382954-102423443 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 102414798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039390]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000039390

SMART Domains

Protein: ENSMUSP00000036032
Gene: ENSMUSG00000035606

Domain	Start	End	E-Value	Type
TGc	217	285	1.9e-14	SMART

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

96% (64/67)

MGI Phenotype

PHENOTYPE: Homozygotes for a spontaneous mutation exhibit severe degenerative myopathy involving postural muscles, resulting in thoraco-lumbar kyphoscoliosis with degenerative changes in intervertebral discs. Body weight is reduced and breathing is irregular. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	C	G	2: 152,282,777 (GRCm39)	P211A	probably damaging	Het
Ambra1	G	A	2: 91,715,951 (GRCm39)	V761M	probably damaging	Het
Amfr	T	A	8: 94,702,798 (GRCm39)		probably null	Het
Asphd1	C	A	7: 126,545,287 (GRCm39)	A357S	probably benign	Het
Brd3	C	A	2: 27,353,931 (GRCm39)	Q60H	probably damaging	Het
Cd96	T	A	16: 45,890,016 (GRCm39)	M336L	probably benign	Het
Cep152	T	A	2: 125,406,125 (GRCm39)	H1469L	probably benign	Het
Coro1a	G	T	7: 126,299,816 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,171,555 (GRCm39)	L871Q	probably benign	Het
Depdc5	C	T	5: 33,095,635 (GRCm39)	P824L	probably damaging	Het
Enpep	T	G	3: 129,099,075 (GRCm39)	D467A	probably damaging	Het
Extl2	G	A	3: 115,821,013 (GRCm39)	A273T	probably benign	Het
Foxi3	T	A	6: 70,937,500 (GRCm39)	F218Y	probably damaging	Het
Golga2	A	G	2: 32,194,166 (GRCm39)	M521V	probably benign	Het
Gpr142	T	A	11: 114,695,168 (GRCm39)	N44K	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,061 (GRCm39)	I440V	probably benign	Het
Gucy1b2	T	A	14: 62,642,028 (GRCm39)	K698I	probably damaging	Het
Hspa1b	T	C	17: 35,177,983 (GRCm39)	M1V	probably null	Het
Ints9	T	A	14: 65,245,521 (GRCm39)	Y260N	probably benign	Het
Khdc3	T	G	9: 73,010,768 (GRCm39)	V182G	possibly damaging	Het
Map2k1	T	A	9: 64,098,843 (GRCm39)	I263F	probably damaging	Het
Or13a18	A	C	7: 140,190,576 (GRCm39)	I166L	probably benign	Het
Or2t47	T	C	11: 58,442,877 (GRCm39)	S63G	probably benign	Het
Or5ak25	A	G	2: 85,269,241 (GRCm39)	V87A	probably benign	Het
Otogl	T	A	10: 107,613,453 (GRCm39)	H2004L	probably benign	Het
Palmd	T	C	3: 116,717,009 (GRCm39)	H496R	probably benign	Het
Papolb	C	G	5: 142,515,409 (GRCm39)	R78P	possibly damaging	Het
Pcdh10	G	A	3: 45,336,247 (GRCm39)	G854R	probably damaging	Het
Pdcd11	A	G	19: 47,101,976 (GRCm39)	I1054V	probably benign	Het
Pik3ap1	A	T	19: 41,364,545 (GRCm39)	L58Q	probably damaging	Het
Ppp2ca	A	G	11: 51,989,937 (GRCm39)	K21R	probably benign	Het
Prmt5	A	C	14: 54,745,373 (GRCm39)	I598S	probably damaging	Het
Pycr1	T	A	11: 120,532,050 (GRCm39)	I239F	probably damaging	Het
R3hdm2	C	T	10: 127,334,285 (GRCm39)	R896C	probably damaging	Het
Rev3l	C	T	10: 39,722,725 (GRCm39)	P699S	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 84,725,625 (GRCm39)		probably benign	Het
Sel1l	A	T	12: 91,791,658 (GRCm39)	M351K	possibly damaging	Het
Sesn2	A	G	4: 132,226,617 (GRCm39)	L159P	probably damaging	Het
Slc35f4	T	A	14: 49,540,946 (GRCm39)		probably benign	Het
Slc3a1	C	A	17: 85,359,403 (GRCm39)	N409K	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slco1c1	T	C	6: 141,492,502 (GRCm39)	F246S	probably damaging	Het
Socs2	T	G	10: 95,228,681 (GRCm39)	I190L	unknown	Het
Srsf1	T	A	11: 87,938,684 (GRCm39)	I7N	possibly damaging	Het
Stox1	T	A	10: 62,503,620 (GRCm39)	H145L	probably damaging	Het
Trap1	A	T	16: 3,874,286 (GRCm39)	I243N	probably damaging	Het
Trav7-3	T	C	14: 53,681,207 (GRCm39)	I83T	probably benign	Het
Trmt9b	T	C	8: 36,979,078 (GRCm39)	I227T	probably benign	Het
Tuft1	A	T	3: 94,546,712 (GRCm39)	I42K	possibly damaging	Het
Umps	A	G	16: 33,787,344 (GRCm39)	V3A	probably benign	Het
Vim	A	C	2: 13,579,643 (GRCm39)	E134A	probably null	Het
Vmn1r28	C	A	6: 58,242,524 (GRCm39)	H122Q	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Vsig10l	T	A	7: 43,120,274 (GRCm39)	V760D	probably damaging	Het
Xrn1	A	G	9: 95,927,596 (GRCm39)	D1460G	probably benign	Het
Zfp282	A	G	6: 47,874,824 (GRCm39)	D343G	probably damaging	Het
Zfp35	A	G	18: 24,136,778 (GRCm39)	H374R	probably damaging	Het

Other mutations in Ky

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01515:Ky	APN	9	102,419,304 (GRCm39)	missense	probably benign
IGL02197:Ky	APN	9	102,414,985 (GRCm39)	missense	possibly damaging	0.63
PIT4802001:Ky	UTSW	9	102,414,972 (GRCm39)	missense	probably benign	0.00
R0384:Ky	UTSW	9	102,419,289 (GRCm39)	missense	probably benign	0.05
R0620:Ky	UTSW	9	102,414,820 (GRCm39)	missense	probably benign	0.04
R1099:Ky	UTSW	9	102,414,923 (GRCm39)	missense	probably damaging	1.00
R1754:Ky	UTSW	9	102,419,126 (GRCm39)	missense	possibly damaging	0.54
R2075:Ky	UTSW	9	102,419,945 (GRCm39)	missense	probably damaging	0.98
R2322:Ky	UTSW	9	102,414,990 (GRCm39)	critical splice donor site	probably null
R2415:Ky	UTSW	9	102,419,090 (GRCm39)	missense	probably damaging	1.00
R3950:Ky	UTSW	9	102,419,627 (GRCm39)	nonsense	probably null
R4419:Ky	UTSW	9	102,419,909 (GRCm39)	missense	probably damaging	1.00
R4786:Ky	UTSW	9	102,419,186 (GRCm39)	missense	probably benign	0.02
R5529:Ky	UTSW	9	102,419,274 (GRCm39)	missense	probably benign	0.10
R6857:Ky	UTSW	9	102,419,631 (GRCm39)	missense	probably damaging	1.00
R6931:Ky	UTSW	9	102,414,826 (GRCm39)	missense	probably damaging	1.00
R7205:Ky	UTSW	9	102,419,491 (GRCm39)	missense	probably damaging	1.00
R7211:Ky	UTSW	9	102,386,349 (GRCm39)	missense	probably benign	0.08
R7570:Ky	UTSW	9	102,419,528 (GRCm39)	missense	probably benign	0.00
R7642:Ky	UTSW	9	102,419,469 (GRCm39)	missense	probably benign	0.32
R7644:Ky	UTSW	9	102,414,972 (GRCm39)	missense	probably benign	0.00
R7910:Ky	UTSW	9	102,419,141 (GRCm39)	missense	possibly damaging	0.54
R7988:Ky	UTSW	9	102,402,614 (GRCm39)	missense	probably damaging	1.00
R8708:Ky	UTSW	9	102,402,590 (GRCm39)	splice site	probably benign
R8726:Ky	UTSW	9	102,405,102 (GRCm39)	missense	probably damaging	1.00
R9146:Ky	UTSW	9	102,419,405 (GRCm39)	missense
R9709:Ky	UTSW	9	102,419,411 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACATCGGATCATGGCAAGC -3'
(R):5'- CACGGACAAAACTGAGCTTC -3'

Sequencing Primer
(F):5'- AAGCAGGCCCTGGGGAG -3'
(R):5'- CTGAGCTTCGTACTTACAGGAAG -3'

Posted On

2016-07-06