Mutagenetix > Incidental Mutation

Incidental Mutation 'R5984:Atpsckmt'

481575

Institutional Source

Beutler Lab

Gene Symbol

Atpsckmt

Ensembl Gene

ENSMUSG00000039065

Gene Name

ATP synthase C subunit lysine N-methyltransferase

Synonyms

Fam173b, A930016P21Rik

MMRRC Submission

043251-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R5984 (G1)

Quality Score

192.009

Status

Not validated

Chromosome

Chromosomal Location

31601998-31621373 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 31617065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 99 (R99*)

Ref Sequence

ENSEMBL: ENSMUSP00000124619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042702] [ENSMUST00000161061]

AlphaFold

Q9D1Z3

Predicted Effect

probably null
Transcript: ENSMUST00000042702
AA Change: R177*

SMART Domains

Protein: ENSMUSP00000039094
Gene: ENSMUSG00000039065
AA Change: R177*

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
SCOP:d1dusa_	87	186	2e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160146

Predicted Effect

probably null
Transcript: ENSMUST00000161061
AA Change: R99*

SMART Domains

Protein: ENSMUSP00000124619
Gene: ENSMUSG00000039065
AA Change: R99*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,439,165 (GRCm39)	L130F	probably benign	Het
Alox12	T	C	11: 70,137,881 (GRCm39)	T420A	possibly damaging	Het
Ano5	T	C	7: 51,243,412 (GRCm39)	I795T	probably damaging	Het
Crlf2	G	A	5: 109,703,469 (GRCm39)	P92L	probably damaging	Het
Dgat1	T	C	15: 76,386,458 (GRCm39)	Y492C	probably damaging	Het
Dna2	G	C	10: 62,798,285 (GRCm39)		probably null	Het
Dst	A	G	1: 34,211,344 (GRCm39)	H982R	probably benign	Het
F13b	A	G	1: 139,435,950 (GRCm39)	D252G	probably damaging	Het
Fgfr3	A	T	5: 33,887,049 (GRCm39)	E151V	probably damaging	Het
Gabpb1	T	C	2: 126,488,573 (GRCm39)	T264A	probably damaging	Het
Gemin5	T	C	11: 58,047,587 (GRCm39)	E329G	probably damaging	Het
Git1	C	T	11: 77,397,309 (GRCm39)	P721S	possibly damaging	Het
Hcn3	T	C	3: 89,055,570 (GRCm39)	E559G	probably benign	Het
Invs	G	A	4: 48,421,674 (GRCm39)	A769T	probably benign	Het
Ism2	T	A	12: 87,333,809 (GRCm39)	T79S	possibly damaging	Het
Lamb1	G	A	12: 31,377,773 (GRCm39)	E1673K	possibly damaging	Het
Lmtk2	T	A	5: 144,111,656 (GRCm39)	L792H	probably benign	Het
Lnpk	A	T	2: 74,352,543 (GRCm39)	S380T	probably benign	Het
Mff	A	G	1: 82,708,848 (GRCm39)	I66V	probably benign	Het
Mtor	A	G	4: 148,623,284 (GRCm39)	K2045E	probably benign	Het
Mycbp2	C	A	14: 103,364,120 (GRCm39)	W4393L	probably damaging	Het
Or1e31	T	A	11: 73,690,407 (GRCm39)	M59L	possibly damaging	Het
Or8k32	A	T	2: 86,368,512 (GRCm39)	V249E	probably damaging	Het
Pcdha5	A	G	18: 37,094,733 (GRCm39)	D414G	probably damaging	Het
Pknox2	T	C	9: 36,835,022 (GRCm39)	E149G	probably damaging	Het
Plxdc2	A	G	2: 16,665,666 (GRCm39)	R240G	probably benign	Het
Polr3d	A	T	14: 70,676,927 (GRCm39)	F389Y	possibly damaging	Het
Prex1	T	G	2: 166,427,664 (GRCm39)	D826A	probably damaging	Het
Prss50	T	A	9: 110,691,454 (GRCm39)	S253T	probably damaging	Het
Ptgfrn	T	C	3: 100,957,459 (GRCm39)	D705G	probably damaging	Het
Ptpn21	T	A	12: 98,655,335 (GRCm39)	N544I	probably damaging	Het
Rbm5	G	A	9: 107,622,141 (GRCm39)	P611L	probably damaging	Het
Rev3l	A	T	10: 39,618,685 (GRCm39)		probably benign	Het
Rnf139	T	C	15: 58,770,595 (GRCm39)	Y207H	probably benign	Het
Scn11a	C	T	9: 119,613,082 (GRCm39)	R836H	probably benign	Het
Slc30a1	A	G	1: 191,639,212 (GRCm39)	T32A	probably damaging	Het
Smad4	T	A	18: 73,810,982 (GRCm39)	M1L	probably benign	Het
Sos1	T	C	17: 80,759,561 (GRCm39)	D190G	possibly damaging	Het
Sptbn1	C	T	11: 30,068,464 (GRCm39)	D1677N	probably damaging	Het
Tmem132e	G	A	11: 82,335,923 (GRCm39)	D1002N	probably damaging	Het
Usp8	C	A	2: 126,584,401 (GRCm39)	Q526K	probably benign	Het
Wt1	A	G	2: 105,002,597 (GRCm39)	S488G	probably benign	Het
Zbtb43	A	G	2: 33,344,272 (GRCm39)	S318P	probably benign	Het

Other mutations in Atpsckmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00903:Atpsckmt	APN	15	31,606,261 (GRCm39)	missense	possibly damaging	0.89
IGL02715:Atpsckmt	APN	15	31,606,149 (GRCm39)	missense	probably benign	0.16
R0414:Atpsckmt	UTSW	15	31,617,148 (GRCm39)	nonsense	probably null
R0462:Atpsckmt	UTSW	15	31,617,018 (GRCm39)	missense	probably damaging	1.00
R0518:Atpsckmt	UTSW	15	31,606,103 (GRCm39)	missense	probably benign	0.05
R0521:Atpsckmt	UTSW	15	31,606,103 (GRCm39)	missense	probably benign	0.05
R1692:Atpsckmt	UTSW	15	31,602,297 (GRCm39)	critical splice donor site	probably null
R2141:Atpsckmt	UTSW	15	31,609,718 (GRCm39)	missense	probably benign	0.09
R4719:Atpsckmt	UTSW	15	31,608,243 (GRCm39)	missense	probably damaging	1.00
R6113:Atpsckmt	UTSW	15	31,608,308 (GRCm39)	missense	probably damaging	1.00
R6899:Atpsckmt	UTSW	15	31,617,257 (GRCm39)	missense	probably benign	0.03
R7575:Atpsckmt	UTSW	15	31,606,186 (GRCm39)	missense	probably damaging	1.00
R7577:Atpsckmt	UTSW	15	31,606,186 (GRCm39)	missense	probably damaging	1.00
R8024:Atpsckmt	UTSW	15	31,608,317 (GRCm39)	missense	probably damaging	1.00
R9043:Atpsckmt	UTSW	15	31,617,101 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATTGCTTGATAAGTGCCTGTGC -3'
(R):5'- CACTCAACGTCAAGGAGCTTG -3'

Sequencing Primer
(F):5'- ATAAGTGCCTGTGCCTGCG -3'
(R):5'- CTCCGTGTCTCAGATGAGGAG -3'

Posted On

2017-06-26