Mutagenetix > Incidental Mutations

Incidental Mutation 'R5529:Ky'

433586

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000035606

Gene Name

kyphoscoliosis peptidase

Synonyms

D9Mgc44e

MMRRC Submission

043087-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.316) question?

Stock #

R5529 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102505750-102546239 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102542075 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 427 (S427L)

Ref Sequence

ENSEMBL: ENSMUSP00000036032 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039390
AA Change: S427L

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000036032
Gene: ENSMUSG00000035606
AA Change: S427L

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

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 95.7%
20x: 92.5%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,264,881	Y2079C	probably damaging	Het
Alg2	T	C	4: 47,472,101	R236G	probably damaging	Het
Alpl	T	A	4: 137,746,422	N323I	probably damaging	Het
Anxa3	A	G	5: 96,828,379	E172G	probably benign	Het
Atp8a2	A	G	14: 59,793,865		probably null	Het
Cadps	T	C	14: 12,454,285	K1078E	probably damaging	Het
Ces2e	G	T	8: 104,929,911	V258L	probably benign	Het
Daam2	A	G	17: 49,459,057	F1041S	probably benign	Het
Dcstamp	A	G	15: 39,754,536	I114V	probably benign	Het
Ddhd2	C	T	8: 25,739,560	R496Q	probably benign	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Eml6	T	A	11: 29,764,126	R1335S	probably benign	Het
F12	T	C	13: 55,422,059	N102S	probably benign	Het
Fbn1	G	A	2: 125,373,950	L712F	probably benign	Het
Fgf1	G	T	18: 38,858,604	F37L	probably damaging	Het
Fgf14	T	A	14: 123,980,455	H212L	probably damaging	Het
Gm10036	A	T	18: 15,832,801	Q3L	probably benign	Het
Hivep1	T	C	13: 42,156,650	F789L	possibly damaging	Het
Hspg2	C	A	4: 137,551,828	T3074N	probably damaging	Het
Katnb1	C	T	8: 95,097,672	R495C	probably damaging	Het
Kdm5b	C	T	1: 134,588,003	H122Y	probably damaging	Het
Med9	T	G	11: 59,960,660	V105G	probably benign	Het
Ndufa11	T	A	17: 56,721,059	V43D	probably damaging	Het
Nlrp4b	T	A	7: 10,714,946	C359S	possibly damaging	Het
Olfr361	T	A	2: 37,084,909	I280F	possibly damaging	Het
Olfr558	A	T	7: 102,709,693	K145*	probably null	Het
Paxbp1	T	A	16: 91,030,513	Y478F	possibly damaging	Het
Pole	G	A	5: 110,332,466	E92K	probably benign	Het
Prom1	G	T	5: 44,026,768	L449M	probably damaging	Het
Psg28	G	A	7: 18,430,448	T113I	probably benign	Het
Reln	A	C	5: 21,932,715	V2493G	possibly damaging	Het
Rp1	C	T	1: 4,345,832	V1686I	probably benign	Het
Setbp1	T	C	18: 79,086,652	I122V	probably damaging	Het
Setd5	T	C	6: 113,121,568	Y721H	probably damaging	Het
Shroom1	T	C	11: 53,463,922	F223S	probably damaging	Het
Son	T	A	16: 91,655,466	L367Q	probably damaging	Het
Spred2	G	T	11: 20,021,301	D363Y	probably damaging	Het
Tbc1d8	T	G	1: 39,372,755	Y1000S	probably benign	Het
Tdp2	A	T	13: 24,838,236	K213*	probably null	Het
Tmem89	T	C	9: 108,915,477	I146T	probably damaging	Het
Vhl	T	C	6: 113,629,463	V147A	probably benign	Het
Vmn2r23	C	T	6: 123,713,451	L429F	probably benign	Het
Vrk2	T	C	11: 26,499,036	D186G	probably damaging	Het
Wisp2	T	C	2: 163,825,359		probably null	Het
Zbtb40	A	G	4: 136,983,163	F1222L	possibly damaging	Het
Zfp266	A	G	9: 20,506,734	S7P	probably damaging	Het
Zfp472	T	A	17: 32,978,433	I494K	possibly damaging	Het
Zfp655	A	G	5: 145,244,736	E468G	probably damaging	Het

Other mutations in Ky

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01515:Ky	APN	9	102542105	missense	probably benign
IGL02197:Ky	APN	9	102537786	missense	possibly damaging	0.63
PIT4802001:Ky	UTSW	9	102537773	missense	probably benign	0.00
R0384:Ky	UTSW	9	102542090	missense	probably benign	0.05
R0620:Ky	UTSW	9	102537621	missense	probably benign	0.04
R1099:Ky	UTSW	9	102537724	missense	probably damaging	1.00
R1754:Ky	UTSW	9	102541927	missense	possibly damaging	0.54
R2075:Ky	UTSW	9	102542746	missense	probably damaging	0.98
R2322:Ky	UTSW	9	102537791	critical splice donor site	probably null
R2415:Ky	UTSW	9	102541891	missense	probably damaging	1.00
R3950:Ky	UTSW	9	102542428	nonsense	probably null
R4419:Ky	UTSW	9	102542710	missense	probably damaging	1.00
R4786:Ky	UTSW	9	102541987	missense	probably benign	0.02
R5261:Ky	UTSW	9	102537599	critical splice acceptor site	probably null
R6857:Ky	UTSW	9	102542432	missense	probably damaging	1.00
R6931:Ky	UTSW	9	102537627	missense	probably damaging	1.00
R7205:Ky	UTSW	9	102542292	missense	probably damaging	1.00
R7211:Ky	UTSW	9	102509150	missense	probably benign	0.08
R7570:Ky	UTSW	9	102542329	missense	probably benign	0.00
R7642:Ky	UTSW	9	102542270	missense	probably benign	0.32
R7644:Ky	UTSW	9	102537773	missense	probably benign	0.00
R7910:Ky	UTSW	9	102541942	missense	possibly damaging	0.54
R7991:Ky	UTSW	9	102541942	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- GCAGTCAATGGGAAAGCCAC -3'
(R):5'- TCATCGCCATGAAGGGATG -3'

Sequencing Primer
(F):5'- CAATCACCATCGAGAGCCGG -3'
(R):5'- TTCCACGCTAAAGCTGATGG -3'

Posted On

2016-10-06