Mutagenetix > Incidental Mutation

Incidental Mutation 'R3950:Ky'

307873

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000035606

Gene Name

kyphoscoliosis peptidase

Synonyms

D9Mgc44e

MMRRC Submission

040930-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R3950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102505750-102546239 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 102542428 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 545 (Q545*)

Ref Sequence

ENSEMBL: ENSMUSP00000036032 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000039390
AA Change: Q545*

SMART Domains

Protein: ENSMUSP00000036032
Gene: ENSMUSG00000035606
AA Change: Q545*

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,664,403		probably null	Het
Ahnak2	A	T	12: 112,785,789	I186N	probably damaging	Het
Appbp2	A	G	11: 85,194,706	I458T	probably damaging	Het
Arhgef25	T	C	10: 127,185,144	Y291C	probably damaging	Het
Ate1	T	C	7: 130,467,292	Y415C	probably damaging	Het
B4galt4	G	T	16: 38,768,022	A72S	probably benign	Het
C3	T	C	17: 57,225,286	R178G	probably benign	Het
Cdh23	T	C	10: 60,657,326	Y3C	probably benign	Het
Col11a1	T	C	3: 114,121,445		probably null	Het
Col22a1	A	G	15: 71,977,358	F294L	possibly damaging	Het
Dera	A	G	6: 137,837,120	Y100C	probably damaging	Het
Dync2h1	A	T	9: 7,112,061	Y276*	probably null	Het
Eea1	A	T	10: 96,042,134	N1389I	probably damaging	Het
Epha4	A	T	1: 77,399,716	Y509N	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	A	6: 23,247,420	K219*	probably null	Het
Fsd1	G	A	17: 55,995,517		probably null	Het
Haspin	A	G	11: 73,136,395	Y623H	probably damaging	Het
Hsd3b1	C	T	3: 98,856,138	V56M	possibly damaging	Het
Hyou1	C	T	9: 44,385,227	T483I	probably damaging	Het
Kdm2a	A	G	19: 4,343,232	L365S	possibly damaging	Het
Kdm6b	G	T	11: 69,405,615	P609T	probably damaging	Het
Klhl18	T	A	9: 110,428,902	Y490F	probably damaging	Het
L1td1	T	C	4: 98,737,353	L595P	probably benign	Het
Map3k20	T	G	2: 72,438,300	I550M	probably damaging	Het
Mug1	T	A	6: 121,878,530	V941E	probably damaging	Het
Ndst1	T	C	18: 60,697,139	N633S	probably benign	Het
Ninl	A	T	2: 150,952,488	I740K	possibly damaging	Het
Npepl1	A	G	2: 174,121,113	N431D	probably damaging	Het
Olfr1128	T	C	2: 87,545,065	T160A	probably damaging	Het
Pacs2	T	C	12: 113,061,113	S408P	probably damaging	Het
Pard6b	C	T	2: 168,099,194	T367I	probably damaging	Het
Pcdhga7	A	G	18: 37,716,515	E525G	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pcx	C	T	19: 4,617,967	H506Y	probably benign	Het
Pdhx	A	G	2: 103,035,241	S199P	probably damaging	Het
Pdia2	C	A	17: 26,197,616		probably null	Het
Pif1	C	A	9: 65,591,834	N445K	probably damaging	Het
Prickle4	T	C	17: 47,688,582	K349E	probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpdc1	A	T	13: 48,589,194	M173K	probably damaging	Het
Rb1	A	G	14: 73,262,662	L515P	probably damaging	Het
Rcvrn	A	G	11: 67,700,051	K154E	probably damaging	Het
Ros1	C	T	10: 52,066,388	V2059I	probably damaging	Het
Rtn4ip1	T	A	10: 43,909,897		probably null	Het
Sema5a	T	C	15: 32,689,338	Y1050H	probably damaging	Het
Slc25a28	C	T	19: 43,664,269	V318I	probably benign	Het
Srek1	G	A	13: 103,744,895	R408W	unknown	Het
Synrg	C	T	11: 83,989,815	T444I	probably damaging	Het
Ticrr	T	C	7: 79,682,069	L776S	probably damaging	Het
Tmem127	T	C	2: 127,248,657	L31P	probably damaging	Het
Tmprss15	T	A	16: 79,073,186	T190S	probably benign	Het
Trip10	T	A	17: 57,253,411		probably null	Het
Ttc6	A	G	12: 57,649,506	Y31C	probably damaging	Het
Unc80	A	T	1: 66,622,570	H1718L	possibly damaging	Het
Zbtb38	A	G	9: 96,687,546	F495S	probably damaging	Het
Zfp280d	G	T	9: 72,296,019	Q16H	possibly damaging	Het
Zfp521	A	G	18: 13,846,346	S337P	probably damaging	Het
Zswim9	T	A	7: 13,261,577	T218S	possibly 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
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
R5529:Ky	UTSW	9	102542075	missense	probably benign	0.10
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
R7988:Ky	UTSW	9	102525415	missense	probably damaging	1.00
R8708:Ky	UTSW	9	102525391	splice site	probably benign
R8726:Ky	UTSW	9	102527903	missense	probably damaging	1.00
R9146:Ky	UTSW	9	102542206	missense
R9709:Ky	UTSW	9	102542212	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATTCACACCAGCGATGG -3'
(R):5'- TGGCGATACCATGCAGCTTTAG -3'

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

Posted On

2015-04-17