Mutagenetix > Incidental Mutation

Incidental Mutation 'R8758:Gpm6a'

671743

Institutional Source

Beutler Lab

Gene Symbol

Gpm6a

Ensembl Gene

ENSMUSG00000031517

Gene Name

glycoprotein m6a

Synonyms

M6A, Gpm6

MMRRC Submission

068598-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R8758 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55407878-55513906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55511833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 236 (S236P)

Ref Sequence

ENSEMBL: ENSMUSP00000033915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033915]

AlphaFold

P35802

Predicted Effect

probably damaging
Transcript: ENSMUST00000033915
AA Change: S236P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033915
Gene: ENSMUSG00000031517
AA Change: S236P

Domain	Start	End	E-Value	Type
PLP	157	212	1.28e-31	SMART
low complexity region	213	227	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209781

Meta Mutation Damage Score

0.8191

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in increased percentage of total body fat and total body fat mass. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	G	A	4: 39,450,811 (GRCm39)	D6N	probably benign	Het
AC157566.4	T	C	15: 76,418,382 (GRCm39)	I42M	probably benign	Het
Amer2	C	T	14: 60,616,326 (GRCm39)	R174C	probably damaging	Het
Arl8a	A	T	1: 135,082,189 (GRCm39)	D139V	possibly damaging	Het
Csmd3	A	G	15: 47,469,593 (GRCm39)	Y2525H		Het
Cwc22	T	C	2: 77,747,441 (GRCm39)	E424G	possibly damaging	Het
D930048N14Rik	A	G	11: 51,544,568 (GRCm39)	T80A	unknown	Het
Ddx25	T	A	9: 35,453,300 (GRCm39)	E483D	probably benign	Het
Dock4	A	T	12: 40,838,231 (GRCm39)	E1057D	probably benign	Het
Dock7	C	T	4: 98,949,555 (GRCm39)	R429Q		Het
Dzip3	T	C	16: 48,798,300 (GRCm39)	Y135C	probably damaging	Het
Evi5l	G	T	8: 4,255,860 (GRCm39)	A618S	probably benign	Het
Fibp	A	G	19: 5,514,970 (GRCm39)	D348G	possibly damaging	Het
Gimd1	T	A	3: 132,340,799 (GRCm39)	L105H	probably damaging	Het
Glra1	T	A	11: 55,418,191 (GRCm39)	I268F	possibly damaging	Het
Gm30191	A	G	4: 133,977,099 (GRCm39)	T104A	probably benign	Het
Gm49359	A	T	13: 62,602,150 (GRCm39)	I350K	possibly damaging	Het
Igkv4-74	AG	A	6: 69,162,311 (GRCm39)		probably null	Het
Ikzf1	A	G	11: 11,711,359 (GRCm39)	S198G	probably benign	Het
Kcna4	T	A	2: 107,126,494 (GRCm39)	D409E	probably damaging	Het
Lipt2	GGCGCCCGCGCGCG	GGCG	7: 99,808,888 (GRCm39)		probably null	Het
Mgam	T	A	6: 40,705,977 (GRCm39)	D15E	probably benign	Het
Mmrn1	A	G	6: 60,964,193 (GRCm39)	D1065G	possibly damaging	Het
Plxnc1	A	C	10: 94,758,607 (GRCm39)	V363G	possibly damaging	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Psg21	T	C	7: 18,384,678 (GRCm39)	Y356C	probably damaging	Het
Ranbp1	T	C	16: 18,059,659 (GRCm39)	D130G	probably damaging	Het
Rb1cc1	A	T	1: 6,310,451 (GRCm39)	Q283L	probably benign	Het
Rph3a	A	T	5: 121,097,365 (GRCm39)	H250Q	probably benign	Het
Secisbp2	G	A	13: 51,833,869 (GRCm39)	V670I	possibly damaging	Het
Skil	C	T	3: 31,172,686 (GRCm39)	A605V	probably damaging	Het
Slc28a3	T	C	13: 58,720,424 (GRCm39)	T312A	probably benign	Het
Ssh2	T	A	11: 77,344,843 (GRCm39)	C943S	probably benign	Het
Tgfbi	C	T	13: 56,779,894 (GRCm39)	A481V	probably damaging	Het
Tgfbr3	G	A	5: 107,297,750 (GRCm39)	P217S	probably damaging	Het
Tmem135	A	T	7: 88,954,721 (GRCm39)	W99R	probably benign	Het
Tmx1	A	G	12: 70,502,788 (GRCm39)	Y52C	possibly damaging	Het
Ube3b	A	T	5: 114,553,261 (GRCm39)		probably benign	Het
Vmn2r57	G	T	7: 41,078,163 (GRCm39)	N98K	probably damaging	Het
Vwa3b	A	G	1: 37,176,873 (GRCm39)	D40G		Het
Zfyve26	A	G	12: 79,311,083 (GRCm39)		probably benign	Het

Other mutations in Gpm6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01957:Gpm6a	APN	8	55,503,212 (GRCm39)	missense	probably benign
IGL02591:Gpm6a	APN	8	55,511,954 (GRCm39)	missense	probably damaging	1.00
IGL03257:Gpm6a	APN	8	55,490,507 (GRCm39)	missense	probably damaging	1.00
F2404:Gpm6a	UTSW	8	55,511,917 (GRCm39)	missense	probably damaging	1.00
R0533:Gpm6a	UTSW	8	55,508,409 (GRCm39)	critical splice acceptor site	probably null
R0827:Gpm6a	UTSW	8	55,511,918 (GRCm39)	missense	probably damaging	1.00
R1193:Gpm6a	UTSW	8	55,500,268 (GRCm39)	critical splice acceptor site	probably null
R1468:Gpm6a	UTSW	8	55,490,385 (GRCm39)	missense	probably damaging	0.98
R1468:Gpm6a	UTSW	8	55,490,385 (GRCm39)	missense	probably damaging	0.98
R1793:Gpm6a	UTSW	8	55,507,867 (GRCm39)	missense	probably benign	0.13
R1879:Gpm6a	UTSW	8	55,490,365 (GRCm39)	missense	probably damaging	1.00
R2157:Gpm6a	UTSW	8	55,511,833 (GRCm39)	missense	probably damaging	0.99
R4306:Gpm6a	UTSW	8	55,500,428 (GRCm39)	critical splice donor site	probably null
R4307:Gpm6a	UTSW	8	55,500,428 (GRCm39)	critical splice donor site	probably null
R4417:Gpm6a	UTSW	8	55,503,223 (GRCm39)	missense	probably damaging	1.00
R6058:Gpm6a	UTSW	8	55,511,833 (GRCm39)	missense	probably damaging	0.99
R6112:Gpm6a	UTSW	8	55,507,845 (GRCm39)	missense	probably benign
R6254:Gpm6a	UTSW	8	55,500,431 (GRCm39)	splice site	probably null
R7065:Gpm6a	UTSW	8	55,490,493 (GRCm39)	missense	probably benign	0.13
R7076:Gpm6a	UTSW	8	55,490,486 (GRCm39)	missense	probably damaging	1.00
R7912:Gpm6a	UTSW	8	55,508,469 (GRCm39)	missense	possibly damaging	0.62
R7955:Gpm6a	UTSW	8	55,511,840 (GRCm39)	missense	probably damaging	1.00
R9687:Gpm6a	UTSW	8	55,503,209 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGCCGCAGCATTCTTCTCATAC -3'
(R):5'- CCCTGCGCATCTTTGATGAG -3'

Sequencing Primer
(F):5'- GCAGCATTCTTCTCATACAAACGTG -3'
(R):5'- GTTGGATGGCCCTTAATGAAACACC -3'

Posted On

2021-04-30