Mutagenetix > Incidental Mutation

Incidental Mutation 'R6857:Ky'

535324

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000035606

Gene Name

kyphoscoliosis peptidase

Synonyms

D9Mgc44e

MMRRC Submission

044959-MU

Accession Numbers

Essential gene?

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

Stock #

R6857 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102382954-102423443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102419631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 546 (G546E)

Ref Sequence

ENSEMBL: ENSMUSP00000036032 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039390
AA Change: G546E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036032
Gene: ENSMUSG00000035606
AA Change: G546E

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

Meta Mutation Damage Score

0.3664

Coding Region Coverage

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

Validation Efficiency

100% (58/58)

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
Abca6	A	G	11: 110,110,514 (GRCm39)	L545P	possibly damaging	Het
Adam4	T	C	12: 81,466,723 (GRCm39)	T633A	possibly damaging	Het
Ahnak	C	T	19: 9,014,532 (GRCm39)	Q119*	probably null	Het
Anxa10	C	A	8: 62,514,051 (GRCm39)	A239S	probably benign	Het
B020011L13Rik	A	T	1: 117,729,018 (GRCm39)	H175L	probably benign	Het
Best2	A	G	8: 85,734,452 (GRCm39)	V422A	probably benign	Het
Cc2d2b	T	C	19: 40,759,309 (GRCm39)	F298S	possibly damaging	Het
Cd38	T	A	5: 44,063,540 (GRCm39)	M211K	probably damaging	Het
Cd3d	T	G	9: 44,896,902 (GRCm39)	M92R	probably damaging	Het
Cdk5rap2	C	A	4: 70,163,633 (GRCm39)	E1474*	probably null	Het
Clvs1	A	G	4: 9,449,433 (GRCm39)	K341E	probably benign	Het
Copg2	G	T	6: 30,840,533 (GRCm39)	D112E	possibly damaging	Het
Cspg4b	A	T	13: 113,456,492 (GRCm39)	N846I	probably damaging	Het
Dmxl1	A	T	18: 49,997,902 (GRCm39)	N697Y	probably damaging	Het
Dync1h1	T	C	12: 110,624,981 (GRCm39)	S3803P	possibly damaging	Het
Ecpas	T	A	4: 58,814,065 (GRCm39)	D1347V	probably damaging	Het
Epx	T	A	11: 87,760,781 (GRCm39)	K384*	probably null	Het
Fam135a	G	C	1: 24,053,870 (GRCm39)	D1222E	probably damaging	Het
Fndc1	T	A	17: 7,991,002 (GRCm39)	H898L	unknown	Het
Gapvd1	A	G	2: 34,618,389 (GRCm39)	I190T	probably damaging	Het
Hax1	T	G	3: 89,904,759 (GRCm39)	S122R	probably damaging	Het
Hdac9	T	G	12: 34,443,362 (GRCm39)	M272L	probably benign	Het
Itgb7	T	C	15: 102,131,900 (GRCm39)	S228G	probably damaging	Het
Itpr2	C	A	6: 146,298,517 (GRCm39)	E315*	probably null	Het
Kctd8	T	C	5: 69,454,045 (GRCm39)	N331D	probably benign	Het
Lao1	T	C	4: 118,821,023 (GRCm39)		probably null	Het
Mtmr12	T	A	15: 12,263,918 (GRCm39)	W427R	probably damaging	Het
Mxra8	A	G	4: 155,927,593 (GRCm39)	K434E	possibly damaging	Het
Myh4	T	C	11: 67,140,711 (GRCm39)	C676R	possibly damaging	Het
Nek7	C	T	1: 138,443,420 (GRCm39)	G178R	probably damaging	Het
Or5w17	A	T	2: 87,583,831 (GRCm39)	C169S	probably damaging	Het
Or8b50	T	C	9: 38,518,307 (GRCm39)	L182P	probably benign	Het
Or8k35	A	T	2: 86,424,608 (GRCm39)	L188H	probably damaging	Het
Paqr5	G	T	9: 61,883,370 (GRCm39)	H41N	probably damaging	Het
Plekha8	T	C	6: 54,606,920 (GRCm39)	L405P	probably damaging	Het
Plpbp	A	G	8: 27,535,454 (GRCm39)	N79S	possibly damaging	Het
Plxnd1	G	T	6: 115,970,724 (GRCm39)	A348E	probably benign	Het
Prdm9	T	C	17: 15,764,518 (GRCm39)	Q754R	probably benign	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rgs12	A	T	5: 35,187,366 (GRCm39)	K213*	probably null	Het
Serpina3m	T	C	12: 104,355,585 (GRCm39)	L84P	probably damaging	Het
Tab2	T	C	10: 7,796,177 (GRCm39)	T102A	possibly damaging	Het
Tagln3	G	T	16: 45,544,599 (GRCm39)	A24E	probably benign	Het
Tanc2	A	G	11: 105,801,114 (GRCm39)	E1110G	possibly damaging	Het
Tcf3	T	C	10: 80,252,733 (GRCm39)		probably null	Het
Tmem14a	T	C	1: 21,299,769 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,748,275 (GRCm39)	E4258V	possibly damaging	Het
Ubr4	G	A	4: 139,213,362 (GRCm39)	D5104N	possibly damaging	Het
Ugt2b37	C	G	5: 87,388,705 (GRCm39)	A503P	probably damaging	Het
Unc45b	A	G	11: 82,804,038 (GRCm39)	I72V	probably benign	Het
Vmn1r88	A	T	7: 12,912,258 (GRCm39)	M205L	possibly damaging	Het
Vmn2r109	C	T	17: 20,760,932 (GRCm39)	M808I	probably benign	Het
Wdr72	G	T	9: 74,062,323 (GRCm39)	V490L	probably damaging	Het
Zfp1004	G	T	2: 150,033,982 (GRCm39)	C132F	probably damaging	Het
Zfp998	A	T	13: 66,580,161 (GRCm39)	H107Q	probably benign	Het
Zgrf1	T	A	3: 127,375,096 (GRCm39)	V785E	probably damaging	Het
Zswim7	A	T	11: 62,171,955 (GRCm39)		probably benign	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
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'- ATCATTCACACCAGCGATGGC -3'
(R):5'- GCGATACCATGCAGCTTTAG -3'

Sequencing Primer
(F):5'- TGCGCCATCAGCTTTAGC -3'
(R):5'- ACCATGCAGCTTTAGTTTGAAGGC -3'

Posted On

2018-09-12