Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4802001:Ky'

556739

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000035606

Gene Name

kyphoscoliosis peptidase

Synonyms

D9Mgc44e

Accession Numbers

Essential gene?

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

Stock #

PIT4802001 (G1)

Quality Score

194.009

Status

Not validated

Chromosome

Chromosomal Location

102382954-102423443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102414972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 295 (S295T)

Ref Sequence

ENSEMBL: ENSMUSP00000036032 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039390
AA Change: S295T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000036032
Gene: ENSMUSG00000035606
AA Change: S295T

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

Coding Region Coverage

1x: 93.6%
3x: 91.0%
10x: 85.4%
20x: 73.7%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,902,172 (GRCm39)	D741E	probably benign	Het
Abca16	A	G	7: 120,139,351 (GRCm39)	D1461G	probably benign	Het
Adam6a	G	T	12: 113,509,078 (GRCm39)	D484Y	probably damaging	Het
Akap5	T	C	12: 76,376,706 (GRCm39)	Y713H	probably damaging	Het
AW554918	A	G	18: 25,473,132 (GRCm39)	E312G	possibly damaging	Het
Car4	G	A	11: 84,855,231 (GRCm39)	A157T	probably damaging	Het
Chst9	A	T	18: 15,585,849 (GRCm39)	M238K	probably benign	Het
Ctbp2	G	A	7: 132,589,974 (GRCm39)	H397Y	possibly damaging	Het
Cyp3a59	A	G	5: 146,039,611 (GRCm39)	M295V	probably benign	Het
Daglb	T	C	5: 143,488,803 (GRCm39)	Y586H	probably benign	Het
Ehbp1l1	G	T	19: 5,769,603 (GRCm39)	P567T	possibly damaging	Het
Emilin2	A	G	17: 71,580,464 (GRCm39)	I754T	probably damaging	Het
Esyt2	G	A	12: 116,329,457 (GRCm39)	A672T	probably benign	Het
Evx1	G	T	6: 52,291,175 (GRCm39)	E116*	probably null	Het
Exph5	T	C	9: 53,286,278 (GRCm39)	S1120P	probably damaging	Het
Fam184a	A	T	10: 53,560,450 (GRCm39)	L515*	probably null	Het
Flt4	T	A	11: 49,523,996 (GRCm39)	D525E	probably benign	Het
Galt	T	C	4: 41,756,764 (GRCm39)	W135R	probably damaging	Het
Ifitm6	A	T	7: 140,596,648 (GRCm39)	C42S	probably damaging	Het
Ift172	A	G	5: 31,442,610 (GRCm39)	S186P	probably benign	Het
Kcnk3	A	G	5: 30,779,712 (GRCm39)	E254G	probably damaging	Het
Kmt2b	A	G	7: 30,278,996 (GRCm39)	S1509P	probably damaging	Het
Lrba	T	A	3: 86,571,801 (GRCm39)	Y2368*	probably null	Het
Mtmr4	T	A	11: 87,501,953 (GRCm39)	V669E	probably benign	Het
Myh10	C	T	11: 68,655,918 (GRCm39)	R471C	probably damaging	Het
Nav1	G	A	1: 135,380,671 (GRCm39)	T1416I	unknown	Het
Nrip1	A	C	16: 76,090,157 (GRCm39)	S467A	probably damaging	Het
Ntrk1	T	A	3: 87,695,941 (GRCm39)	N190Y	probably damaging	Het
Or14a256	A	T	7: 86,265,763 (GRCm39)	L30Q	probably null	Het
Or5h25	A	C	16: 58,930,964 (GRCm39)	M3R	probably benign	Het
Pdxp	A	G	15: 78,802,611 (GRCm39)	S282G	probably damaging	Het
Phtf2	A	T	5: 21,006,904 (GRCm39)	S220T	probably damaging	Het
Piezo2	A	T	18: 63,157,540 (GRCm39)	V2390E	probably damaging	Het
Pop1	T	G	15: 34,529,229 (GRCm39)	L783R	probably benign	Het
Prf1	G	A	10: 61,135,972 (GRCm39)	A83T	probably benign	Het
Rab4b	A	G	7: 26,875,267 (GRCm39)	V50A	probably benign	Het
Rtn1	T	A	12: 72,351,100 (GRCm39)	T370S	probably benign	Het
Sdr16c5	T	A	4: 4,012,423 (GRCm39)	I123F	probably damaging	Het
Smg6	T	A	11: 75,046,991 (GRCm39)	V1228D	probably damaging	Het
Smim19	A	G	8: 22,963,539 (GRCm39)	V23A	probably benign	Het
Sox13	A	T	1: 133,313,996 (GRCm39)	I346N	probably damaging	Het
Tap1	T	A	17: 34,412,165 (GRCm39)	Y457N	probably damaging	Het
Tbck	C	T	3: 132,458,427 (GRCm39)	P686S	probably damaging	Het
Tcof1	A	G	18: 60,965,010 (GRCm39)	S570P	unknown	Het
Tmc5	A	T	7: 118,271,449 (GRCm39)	M921L	probably benign	Het
Ttc6	A	G	12: 57,772,462 (GRCm39)	Y1594C	possibly damaging	Het
Virma	T	A	4: 11,546,008 (GRCm39)	H1615Q	probably damaging	Het
Vmn1r19	T	A	6: 57,382,037 (GRCm39)	Y197N	probably damaging	Het
Vps13c	T	C	9: 67,845,068 (GRCm39)	F2051L	probably damaging	Het
Wdr6	C	T	9: 108,451,765 (GRCm39)	C706Y	probably damaging	Het
Zfand4	A	G	6: 116,261,736 (GRCm39)	N100D	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
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

Predicted Primers

PCR Primer
(F):5'- TAGCACTCAAGCCCCTTCTCAG -3'
(R):5'- AAATTCAGCTCCTTGCAAGC -3'

Sequencing Primer
(F):5'- ATGTCCCATCCCCAGGGTTG -3'
(R):5'- CGACCTGGAACCAGCTTTTG -3'

Posted On

2019-06-07