Mutagenetix > Incidental Mutation

Incidental Mutation 'R9146:Ky'

694650

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000035606

Gene Name

kyphoscoliosis peptidase

Synonyms

D9Mgc44e

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R9146 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102382954-102423443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102419405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 471 (P471S)

Ref Sequence

ENSEMBL: ENSMUSP00000036032 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000036032
Gene: ENSMUSG00000035606
AA Change: P471S

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

Meta Mutation Damage Score

0.2954

Coding Region Coverage

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

Validation Efficiency

98% (54/55)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	G	A	5: 137,289,077 (GRCm39)	G261D	probably damaging	Het
Adgrv1	T	A	13: 81,561,291 (GRCm39)	T5408S	probably benign	Het
Aff3	T	C	1: 38,359,200 (GRCm39)	N362D	probably benign	Het
Aff4	A	G	11: 53,298,963 (GRCm39)	N956S	probably benign	Het
Alg10b	A	G	15: 90,112,401 (GRCm39)	E415G	probably damaging	Het
Ate1	T	C	7: 130,069,022 (GRCm39)	Y415C	probably damaging	Het
Cage1	T	C	13: 38,207,005 (GRCm39)	D280G	probably benign	Het
Catsperg1	G	C	7: 28,909,912 (GRCm39)	P72R	probably benign	Het
Cep290	A	G	10: 100,377,665 (GRCm39)	E1565G	probably benign	Het
Csmd1	T	A	8: 16,048,832 (GRCm39)	Y2290F	probably benign	Het
Cyp2c39	A	T	19: 39,527,344 (GRCm39)	H230L		Het
Efhb	A	G	17: 53,769,644 (GRCm39)	S222P	probably benign	Het
Emilin2	G	A	17: 71,581,331 (GRCm39)	T465M	probably damaging	Het
Ep400	A	T	5: 110,849,635 (GRCm39)	Y1431*	probably null	Het
Gm10912	T	C	2: 103,897,053 (GRCm39)	V64A	possibly damaging	Het
Gpat2	T	C	2: 127,273,206 (GRCm39)	S197P	possibly damaging	Het
Hc	T	C	2: 34,924,571 (GRCm39)	Y452C	probably damaging	Het
Hectd4	T	C	5: 121,487,097 (GRCm39)	I3364T	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,474,141 (GRCm39)	T4767M	probably benign	Het
Hspa4l	A	G	3: 40,736,101 (GRCm39)	D595G	probably benign	Het
Kdm1a	G	T	4: 136,329,739 (GRCm39)	T53K	unknown	Het
Kirrel1	T	C	3: 87,003,015 (GRCm39)	D126G	probably damaging	Het
Kit	T	A	5: 75,810,305 (GRCm39)	D822E	probably damaging	Het
Kiz	C	T	2: 146,705,740 (GRCm39)	T100M	probably benign	Het
Kmt2a	T	A	9: 44,725,938 (GRCm39)	K3663*	probably null	Het
Krt8	T	A	15: 101,907,370 (GRCm39)	I238F	probably damaging	Het
Lca5l	T	C	16: 95,960,998 (GRCm39)	E493G	probably damaging	Het
Lrrc2	C	T	9: 110,808,582 (GRCm39)	T273I	probably damaging	Het
Mcoln2	T	C	3: 145,869,303 (GRCm39)	S31P	probably benign	Het
Mmp1a	A	G	9: 7,464,997 (GRCm39)	D77G	probably damaging	Het
Mrgprb8	T	A	7: 48,039,200 (GRCm39)	C290*	probably null	Het
Nfe2l3	G	T	6: 51,410,172 (GRCm39)	A96S	probably damaging	Het
Notch2	A	G	3: 98,011,854 (GRCm39)	D624G	probably damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or52n2	T	A	7: 104,542,452 (GRCm39)	I128F	probably damaging	Het
Or6c7	T	C	10: 129,323,392 (GRCm39)	V171A	possibly damaging	Het
Pcdh10	G	A	3: 45,334,351 (GRCm39)	A222T	probably benign	Het
Piezo1	G	A	8: 123,227,002 (GRCm39)	H420Y		Het
Pik3r1	C	A	13: 101,825,136 (GRCm39)		probably benign	Het
Plcb1	T	A	2: 135,182,615 (GRCm39)	Y642N	probably damaging	Het
Ralgapa2	T	A	2: 146,184,252 (GRCm39)	H1538L	probably benign	Het
Raph1	A	G	1: 60,558,137 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,334,499 (GRCm39)	F3237S		Het
Sctr	A	G	1: 119,982,010 (GRCm39)	D286G	probably damaging	Het
Smyd3	A	G	1: 178,920,529 (GRCm39)	S202P	probably damaging	Het
Ssh2	G	A	11: 77,328,502 (GRCm39)	G356E	probably damaging	Het
Stat3	A	T	11: 100,784,492 (GRCm39)	S629R	probably benign	Het
Stc2	A	G	11: 31,317,847 (GRCm39)	V58A	probably damaging	Het
Tcerg1l	T	A	7: 137,831,588 (GRCm39)	D463V	probably damaging	Het
Tctn1	A	G	5: 122,389,745 (GRCm39)	V259A	possibly damaging	Het
Tmem248	A	G	5: 130,260,851 (GRCm39)	T139A	probably benign	Het
Trip12	G	T	1: 84,771,881 (GRCm39)	A89E	possibly damaging	Het
Vmn2r54	C	T	7: 12,366,647 (GRCm39)	V96I	probably benign	Het
Vmn2r79	C	T	7: 86,650,681 (GRCm39)	Q156*	probably null	Het
Zfp831	C	A	2: 174,487,461 (GRCm39)	T712N	possibly damaging	Het
Zfy1	A	T	Y: 726,033 (GRCm39)	H577Q	possibly damaging	Het
Zscan4-ps2	T	G	7: 11,251,679 (GRCm39)	S238R	possibly 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
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
R9709:Ky	UTSW	9	102,419,411 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAGCTGCAGATCTTCGCC -3'
(R):5'- AGATGAAGTTCCCTTGTTCCTGC -3'

Sequencing Primer
(F):5'- TGCAGATCTTCGCCAAGGG -3'
(R):5'- GCCTCTTCTTCACAAAGATCTTAAGG -3'

Posted On

2022-01-20