Mutagenetix > Incidental Mutation

Incidental Mutation 'R6401:Vcpkmt'

516171

Institutional Source

Beutler Lab

Gene Symbol

Vcpkmt

Ensembl Gene

ENSMUSG00000049882

Gene Name

valosin containing protein lysine (K) methyltransferase

Synonyms

Gm71, Mettl21d, LOC207965

MMRRC Submission

044548-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6401 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69624402-69629884 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 69629619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 48 (V48F)

Ref Sequence

ENSEMBL: ENSMUSP00000055002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035773] [ENSMUST00000058639] [ENSMUST00000182396] [ENSMUST00000183277]

AlphaFold

Q8C436

Predicted Effect

probably benign
Transcript: ENSMUST00000035773

SMART Domains

Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801

Domain	Start	End	E-Value	Type
Pfam:Histone	54	169	3.7e-13	PFAM
RhoGEF	203	388	1.98e-35	SMART
PH	443	547	1.54e-14	SMART
RasGEFN	595	740	5.8e-52	SMART
RasGEF	775	1019	2.51e-92	SMART
low complexity region	1079	1099	N/A	INTRINSIC
low complexity region	1144	1152	N/A	INTRINSIC
low complexity region	1173	1192	N/A	INTRINSIC
low complexity region	1200	1225	N/A	INTRINSIC
low complexity region	1254	1269	N/A	INTRINSIC
low complexity region	1276	1292	N/A	INTRINSIC
low complexity region	1301	1309	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000058639
AA Change: V48F

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

SMART Domains

Protein: ENSMUSP00000055002
Gene: ENSMUSG00000049882
AA Change: V48F

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	22	194	1.7e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182123

Predicted Effect

probably benign
Transcript: ENSMUST00000182396

SMART Domains

Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801

Domain	Start	End	E-Value	Type
Pfam:Histone	97	169	1e-9	PFAM
Pfam:RhoGEF	203	344	1.6e-12	PFAM
PH	410	514	1.54e-14	SMART
RasGEFN	562	707	5.8e-52	SMART
RasGEF	742	986	2.51e-92	SMART
low complexity region	1046	1066	N/A	INTRINSIC
low complexity region	1111	1119	N/A	INTRINSIC
low complexity region	1140	1159	N/A	INTRINSIC
low complexity region	1167	1192	N/A	INTRINSIC
low complexity region	1221	1236	N/A	INTRINSIC
low complexity region	1243	1259	N/A	INTRINSIC
low complexity region	1268	1276	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182646

Predicted Effect

probably benign
Transcript: ENSMUST00000183277

SMART Domains

Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801

Domain	Start	End	E-Value	Type
Pfam:Histone	97	169	8.9e-11	PFAM
RhoGEF	203	388	1.98e-35	SMART
PH	443	547	1.54e-14	SMART
RasGEFN	595	740	5.8e-52	SMART
RasGEF	775	1019	2.51e-92	SMART
low complexity region	1079	1099	N/A	INTRINSIC
low complexity region	1144	1152	N/A	INTRINSIC
low complexity region	1173	1192	N/A	INTRINSIC
low complexity region	1200	1225	N/A	INTRINSIC
low complexity region	1254	1269	N/A	INTRINSIC
low complexity region	1276	1292	N/A	INTRINSIC
low complexity region	1301	1309	N/A	INTRINSIC

Meta Mutation Damage Score

0.7862

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

93% (41/44)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit no abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano3	T	A	2: 110,605,459 (GRCm39)	N249I	probably benign	Het
Ap3s1	A	C	18: 46,891,074 (GRCm39)	I56L	probably benign	Het
Ccn5	T	C	2: 163,670,946 (GRCm39)	I151T	probably benign	Het
Cngb1	A	G	8: 96,030,367 (GRCm39)		probably benign	Het
Col2a1	T	C	15: 97,883,773 (GRCm39)	T570A	unknown	Het
Cyp3a16	T	C	5: 145,377,174 (GRCm39)	E471G	probably damaging	Het
D930020B18Rik	A	G	10: 121,477,762 (GRCm39)	N14D	possibly damaging	Het
Ext1	T	C	15: 52,969,493 (GRCm39)	E365G	possibly damaging	Het
Fbn1	C	A	2: 125,188,370 (GRCm39)	V1490F	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gm5431	T	A	11: 48,779,536 (GRCm39)	N740I	probably benign	Het
Ifi209	T	C	1: 173,472,269 (GRCm39)	M370T	probably damaging	Het
Ighv2-4	G	T	12: 113,617,082 (GRCm39)	P60Q	probably damaging	Het
Kif19b	A	T	5: 140,442,698 (GRCm39)	T80S	possibly damaging	Het
Ldb3	A	T	14: 34,299,291 (GRCm39)	L111Q	probably benign	Het
Mcmbp	G	T	7: 128,308,783 (GRCm39)	L413I	possibly damaging	Het
Mib1	T	A	18: 10,795,802 (GRCm39)	M721K	probably benign	Het
Nos3	A	G	5: 24,584,809 (GRCm39)	T738A	probably benign	Het
Notch3	T	A	17: 32,377,597 (GRCm39)	I160L	probably benign	Het
Nrxn3	C	A	12: 89,221,770 (GRCm39)	N516K	possibly damaging	Het
Nt5c2	A	G	19: 46,878,250 (GRCm39)	Y496H	probably benign	Het
Or13f5	A	C	4: 52,826,242 (GRCm39)	T282P	probably damaging	Het
Or1n1	A	T	2: 36,750,177 (GRCm39)	L61*	probably null	Het
Or5b111	T	C	19: 13,290,878 (GRCm39)	Y257C	probably damaging	Het
Polm	A	T	11: 5,779,491 (GRCm39)	W436R	probably damaging	Het
Prex2	T	A	1: 11,256,951 (GRCm39)	I1221N	probably benign	Het
Rfpl4b	T	C	10: 38,696,941 (GRCm39)	H220R	possibly damaging	Het
Rgs12	T	C	5: 35,177,676 (GRCm39)	F79L	probably damaging	Het
Rxfp2	A	G	5: 149,966,595 (GRCm39)	D111G	probably benign	Het
Smg7	A	G	1: 152,715,887 (GRCm39)		probably null	Het
Spata22	T	C	11: 73,224,180 (GRCm39)	S34P	probably damaging	Het
St7	T	A	6: 17,855,317 (GRCm39)		probably null	Het
Stk31	A	G	6: 49,400,372 (GRCm39)	E399G	probably damaging	Het
Tcp10b	C	A	17: 13,292,466 (GRCm39)	N296K	probably damaging	Het
Tonsl	T	C	15: 76,517,866 (GRCm39)	Y645C	probably damaging	Het
Ttn	A	T	2: 76,800,206 (GRCm39)	M334K	probably benign	Het
Vmn2r112	T	A	17: 22,822,532 (GRCm39)	Y403*	probably null	Het
Vwa7	G	A	17: 35,236,286 (GRCm39)		probably null	Het
Wscd2	A	T	5: 113,726,206 (GRCm39)	*572C	probably null	Het
Xpo7	A	G	14: 70,919,787 (GRCm39)	L676P	probably damaging	Het
Zbtb32	A	C	7: 30,291,244 (GRCm39)	L17W	probably damaging	Het

Other mutations in Vcpkmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4131001:Vcpkmt	UTSW	12	69,629,552 (GRCm39)	missense	probably benign	0.01
R0519:Vcpkmt	UTSW	12	69,629,102 (GRCm39)	missense	probably benign	0.00
R1926:Vcpkmt	UTSW	12	69,629,519 (GRCm39)	missense	probably damaging	0.99
R9729:Vcpkmt	UTSW	12	69,627,936 (GRCm39)	missense	probably damaging	1.00
RF003:Vcpkmt	UTSW	12	69,629,598 (GRCm39)	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- ATCAGTGACTATAACATCTGCCC -3'
(R):5'- ACTTTGAGAGTCACGCATGC -3'

Sequencing Primer
(F):5'- TCGTTGAGGTACAGGCGC -3'
(R):5'- AGTCACGCATGCGCCTTG -3'

Posted On

2018-05-04