Mutagenetix > Incidental Mutation

Incidental Mutation 'R6113:Atpsckmt'

484977

Institutional Source

Beutler Lab

Gene Symbol

Atpsckmt

Ensembl Gene

ENSMUSG00000039065

Gene Name

ATP synthase C subunit lysine N-methyltransferase

Synonyms

Fam173b, A930016P21Rik

MMRRC Submission

044262-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31601998-31621373 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31608308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 120 (Y120H)

Ref Sequence

ENSEMBL: ENSMUSP00000039094 (fasta)

Gene Model

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

AlphaFold

Q9D1Z3

Predicted Effect

probably damaging
Transcript: ENSMUST00000042702
AA Change: Y120H

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

SMART Domains

Protein: ENSMUSP00000039094
Gene: ENSMUSG00000039065
AA Change: Y120H

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

unknown
Transcript: ENSMUST00000161061
AA Change: Y42H

SMART Domains

Protein: ENSMUSP00000124619
Gene: ENSMUSG00000039065
AA Change: Y42H

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	A	16: 8,390,764 (GRCm39)	T7N	probably benign	Het
Aldh1l2	G	T	10: 83,343,998 (GRCm39)	C359*	probably null	Het
Bpifb6	G	A	2: 153,752,651 (GRCm39)	E384K	probably benign	Het
Chtf18	G	A	17: 25,941,841 (GRCm39)	R544C	probably damaging	Het
Cilp2	T	C	8: 70,335,009 (GRCm39)	D663G	probably benign	Het
Cplx3	T	A	9: 57,509,723 (GRCm39)	I92F	probably damaging	Het
Cr1l	T	C	1: 194,813,719 (GRCm39)		probably benign	Het
Cyp1a1	T	A	9: 57,609,174 (GRCm39)	F323I	probably damaging	Het
Dclk1	T	C	3: 55,397,240 (GRCm39)	Y186H	probably benign	Het
Dclre1c	T	C	2: 3,453,900 (GRCm39)	L261P	probably damaging	Het
Dcst2	T	C	3: 89,275,192 (GRCm39)	S312P	possibly damaging	Het
Dnah17	A	G	11: 118,017,101 (GRCm39)	L213P	probably damaging	Het
Dnd1	T	A	18: 36,898,448 (GRCm39)	Y102F	probably damaging	Het
Dnm1l	T	C	16: 16,158,867 (GRCm39)	N121S	probably benign	Het
Dsp	T	A	13: 38,376,023 (GRCm39)	N1269K	probably damaging	Het
Dync1h1	T	C	12: 110,586,848 (GRCm39)	V943A	probably benign	Het
Eml5	T	A	12: 98,790,933 (GRCm39)	K1322*	probably null	Het
Fgf23	A	G	6: 127,055,117 (GRCm39)	T76A	probably benign	Het
Fgf6	T	C	6: 126,992,900 (GRCm39)		probably null	Het
Fkbp15	G	A	4: 62,258,884 (GRCm39)	T124I	probably benign	Het
Gm12185	A	T	11: 48,806,167 (GRCm39)	H341Q	possibly damaging	Het
Gm20647	A	G	5: 72,487,143 (GRCm39)		probably benign	Het
Lrp2	G	C	2: 69,313,901 (GRCm39)	R2277G	possibly damaging	Het
Lrrc69	T	C	4: 14,708,673 (GRCm39)	T224A	probably benign	Het
Ly75	T	G	2: 60,199,217 (GRCm39)	I175L	probably benign	Het
Morc2b	G	T	17: 33,357,042 (GRCm39)	Y243*	probably null	Het
Myo18b	C	G	5: 113,014,251 (GRCm39)	D764H	probably damaging	Het
Naip6	T	C	13: 100,435,794 (GRCm39)	S910G	possibly damaging	Het
Nbeal1	T	A	1: 60,261,422 (GRCm39)	I21N	possibly damaging	Het
P3h2	A	T	16: 25,799,903 (GRCm39)	I430K	probably benign	Het
Pcdh9	A	G	14: 94,124,544 (GRCm39)	V542A	probably damaging	Het
Pkp3	T	A	7: 140,662,569 (GRCm39)	N60K	probably damaging	Het
Pold1	C	A	7: 44,187,124 (GRCm39)	G686C	probably damaging	Het
Prdm6	T	A	18: 53,606,673 (GRCm39)	L58Q	probably damaging	Het
Rab13	C	A	3: 90,132,173 (GRCm39)	R86S	probably benign	Het
Rad21l	A	C	2: 151,499,398 (GRCm39)	L265V	probably damaging	Het
Rec8	G	A	14: 55,859,935 (GRCm39)	A228T	probably damaging	Het
Rgs12	C	A	5: 35,177,667 (GRCm39)	R76S	probably damaging	Het
Sfmbt1	A	G	14: 30,537,141 (GRCm39)	N670D	possibly damaging	Het
Slc17a7	A	G	7: 44,824,175 (GRCm39)	T464A	possibly damaging	Het
Srcap	C	A	7: 127,159,453 (GRCm39)		probably benign	Het
Srgap2	A	T	1: 131,283,243 (GRCm39)		probably null	Het
Tenm1	C	T	X: 41,916,072 (GRCm39)	G404E	probably damaging	Het
Thpo	C	A	16: 20,547,597 (GRCm39)		probably benign	Het
Tle4	A	T	19: 14,572,952 (GRCm39)		probably null	Het
Tnfrsf14	T	C	4: 155,008,949 (GRCm39)	Q74R	possibly damaging	Het
Trav15-2-dv6-2	T	G	14: 53,887,182 (GRCm39)	V34G	probably benign	Het
Trbv13-1	C	T	6: 41,093,313 (GRCm39)	A82V	probably benign	Het
Trib1	C	T	15: 59,523,487 (GRCm39)	R174*	probably null	Het
Trpv3	G	A	11: 73,176,844 (GRCm39)	V408I	probably benign	Het
Tyk2	A	T	9: 21,019,218 (GRCm39)	V1068E	probably damaging	Het
Usp35	A	G	7: 96,973,533 (GRCm39)	S230P	probably damaging	Het
Utp25	T	C	1: 192,811,810 (GRCm39)	I46V	probably null	Het
Vav1	T	A	17: 57,608,884 (GRCm39)	D349E	probably benign	Het
Vcan	T	A	13: 89,805,655 (GRCm39)	R114*	probably null	Het
Vmn1r25	T	C	6: 57,955,557 (GRCm39)	E244G	probably benign	Het
Vmn2r5	T	C	3: 64,398,820 (GRCm39)	T720A	probably benign	Het
Wdr72	T	A	9: 74,059,923 (GRCm39)	D444E	probably benign	Het
Zfhx3	T	A	8: 109,674,053 (GRCm39)	M1701K	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
R5984:Atpsckmt	UTSW	15	31,617,065 (GRCm39)	nonsense	probably null
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'- TTCCCAGTAGACCTCAAGAAGTATG -3'
(R):5'- CTGCACTGAAGGAAGCCATC -3'

Sequencing Primer
(F):5'- GCCTCTGTCAGGTGATTG -3'
(R):5'- CGACACAATATTCATTTGGACTGTG -3'

Posted On

2017-08-16