Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02197:Ky'

284087

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ensembl Gene

ENSMUSG00000035606

Gene Name

kyphoscoliosis peptidase

Synonyms

D9Mgc44e

Accession Numbers

Essential gene?

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

Stock #

IGL02197

Quality Score

Status

Chromosome

Chromosomal Location

102382954-102423443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102414985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 299 (F299S)

Ref Sequence

ENSEMBL: ENSMUSP00000036032 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039390
AA Change: F299S

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036032
Gene: ENSMUSG00000035606
AA Change: F299S

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

Coding Region Coverage

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	T	C	2: 20,885,117 (GRCm39)	S526G	probably benign	Het
Atad2b	A	T	12: 5,068,056 (GRCm39)	N1018I	possibly damaging	Het
Baz1b	A	G	5: 135,237,951 (GRCm39)	E209G	probably benign	Het
Bltp1	A	G	3: 36,960,884 (GRCm39)	T445A	probably damaging	Het
Capn11	T	A	17: 45,950,782 (GRCm39)	T264S	probably benign	Het
Cdh1	A	G	8: 107,380,418 (GRCm39)	E187G	probably benign	Het
Cps1	A	G	1: 67,196,923 (GRCm39)	I325V	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dmbt1	A	G	7: 130,687,152 (GRCm39)		probably benign	Het
Dnaaf3	T	C	7: 4,530,496 (GRCm39)	D203G	probably damaging	Het
Eif2ak3	A	G	6: 70,878,441 (GRCm39)	Y1045C	probably benign	Het
Fam13a	T	A	6: 58,912,586 (GRCm39)	D689V	possibly damaging	Het
Fnip1	T	A	11: 54,384,200 (GRCm39)	L342I	probably damaging	Het
Frk	T	A	10: 34,360,330 (GRCm39)	N110K	probably damaging	Het
Gm5134	T	C	10: 75,790,536 (GRCm39)		probably null	Het
Gm53	T	C	11: 96,142,549 (GRCm39)		noncoding transcript	Het
Gm9312	A	T	12: 24,302,163 (GRCm39)		noncoding transcript	Het
Gm9936	A	G	5: 114,995,152 (GRCm39)		probably benign	Het
Hk3	A	G	13: 55,162,281 (GRCm39)	F108L	probably damaging	Het
Homer2	A	T	7: 81,260,147 (GRCm39)	S296T	probably benign	Het
Itga2b	T	A	11: 102,357,145 (GRCm39)	H245L	probably benign	Het
Lama5	A	G	2: 179,849,012 (GRCm39)	Y224H	possibly damaging	Het
Leng9	G	T	7: 4,151,723 (GRCm39)	L318I	probably damaging	Het
Lpin1	A	G	12: 16,608,408 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,297,224 (GRCm39)	I3246V	probably benign	Het
Map2k3	A	G	11: 60,837,590 (GRCm39)	Y230C	probably damaging	Het
Myef2	T	C	2: 124,955,959 (GRCm39)		probably null	Het
Myh3	A	T	11: 66,989,409 (GRCm39)	I1510L	probably benign	Het
Mypn	T	C	10: 62,959,057 (GRCm39)	D1088G	possibly damaging	Het
Nek9	C	A	12: 85,354,704 (GRCm39)	V745L	probably null	Het
Neu1	T	A	17: 35,153,641 (GRCm39)	V355D	possibly damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Or4c107	A	G	2: 88,789,028 (GRCm39)	T73A	probably benign	Het
Or6e1	T	C	14: 54,519,409 (GRCm39)	*314W	probably null	Het
Papola	A	T	12: 105,795,442 (GRCm39)	N631I	possibly damaging	Het
Pcnx1	T	C	12: 81,965,878 (GRCm39)	S682P	probably benign	Het
Pcnx1	T	C	12: 82,039,925 (GRCm39)	S2071P	possibly damaging	Het
Pga5	A	G	19: 10,649,277 (GRCm39)		probably benign	Het
Phlda1	T	A	10: 111,343,014 (GRCm39)	M250K	probably damaging	Het
Phox2b	A	G	5: 67,253,869 (GRCm39)		probably benign	Het
Pkdrej	A	G	15: 85,699,994 (GRCm39)	Y1981H	possibly damaging	Het
Pold1	G	A	7: 44,191,663 (GRCm39)	P108S	probably benign	Het
Ptprg	T	G	14: 12,220,613 (GRCm38)	F442V	probably damaging	Het
Rab36	A	G	10: 74,887,874 (GRCm39)	I248M	probably damaging	Het
Scnn1b	G	A	7: 121,502,113 (GRCm39)	R257Q	probably null	Het
Sdc1	A	G	12: 8,840,835 (GRCm39)	Q200R	possibly damaging	Het
Slc10a7	A	G	8: 79,242,292 (GRCm39)	T60A	probably damaging	Het
Snx13	A	G	12: 35,156,800 (GRCm39)	D484G	probably damaging	Het
Tlr1	G	A	5: 65,083,797 (GRCm39)	T260M	probably damaging	Het
Tpcn1	A	G	5: 120,691,596 (GRCm39)	V286A	probably damaging	Het
Traip	T	G	9: 107,845,936 (GRCm39)	L343R	possibly damaging	Het
Unc13b	A	G	4: 43,165,828 (GRCm39)	H204R	probably damaging	Het
Unc80	A	G	1: 66,569,224 (GRCm39)	S960G	probably benign	Het
V1ra8	C	T	6: 90,180,184 (GRCm39)	P129L	probably benign	Het
Vps13b	T	A	15: 35,930,202 (GRCm39)	F3980I	probably benign	Het
Vps13d	T	C	4: 144,854,879 (GRCm39)	N2248S	probably benign	Het
Vps26c	G	T	16: 94,302,549 (GRCm39)		probably benign	Het
Wnk4	T	C	11: 101,154,783 (GRCm39)	L324P	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
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
R5261:Ky	UTSW	9	102,414,798 (GRCm39)	critical splice acceptor site	probably null
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

Posted On

2015-04-16