Mutagenetix > Incidental Mutation

Incidental Mutation 'R0502:Tm6sf2'

47203

Institutional Source

Beutler Lab

Gene Symbol

Tm6sf2

Ensembl Gene

ENSMUSG00000036151

Gene Name

transmembrane 6 superfamily member 2

Synonyms

MMRRC Submission

038697-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0502 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70525574-70532716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70530591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 224 (Y224N)

Ref Sequence

ENSEMBL: ENSMUSP00000105788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049197] [ENSMUST00000110160]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000049197
AA Change: Y222N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046114
Gene: ENSMUSG00000036151
AA Change: Y222N

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	64	84	N/A	INTRINSIC
transmembrane domain	104	126	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	171	190	N/A	INTRINSIC
Pfam:DUF2781	216	357	4e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110160
AA Change: Y224N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105788
Gene: ENSMUSG00000036151
AA Change: Y224N

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	64	84	N/A	INTRINSIC
transmembrane domain	104	126	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	171	190	N/A	INTRINSIC
Pfam:DUF2781	218	357	1.3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149928

Meta Mutation Damage Score

0.1775

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (63/63)

MGI Phenotype

PHENOTYPE: Homozygotes for a null allele show hepatosteatosis, hypocholesterolemia, increased serum alanine transaminase level, reduced VLDL-TG secretion, small VLDL particles, and lipid accumulation in enterocytes. Homozygotes for another null allele show reduced total cholesterol and LDL cholesterol levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,322 (GRCm39)	H755R	possibly damaging	Het
Ano1	A	G	7: 144,150,952 (GRCm39)	L821P	probably damaging	Het
Apol10b	T	A	15: 77,476,349 (GRCm39)		probably benign	Het
Atp2c2	A	G	8: 120,461,316 (GRCm39)	E279G	probably null	Het
Ccar2	A	G	14: 70,378,431 (GRCm39)	S625P	probably benign	Het
Ccdc110	A	G	8: 46,387,761 (GRCm39)		probably benign	Het
Cep350	A	T	1: 155,776,629 (GRCm39)		probably null	Het
Chd3	A	G	11: 69,244,931 (GRCm39)	V1203A	probably damaging	Het
Col24a1	A	G	3: 145,251,071 (GRCm39)		probably benign	Het
Col6a6	A	T	9: 105,644,550 (GRCm39)	M1246K	probably benign	Het
Crot	A	G	5: 9,026,075 (GRCm39)	V304A	possibly damaging	Het
Dapk1	T	A	13: 60,878,662 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,671,319 (GRCm39)	S984T	probably damaging	Het
Dmbt1	G	A	7: 130,699,403 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,258,704 (GRCm39)	E1965V	probably damaging	Het
Dpp4	G	T	2: 62,195,332 (GRCm39)	N315K	probably damaging	Het
Eeig2	G	A	3: 108,900,001 (GRCm39)	R116C	probably damaging	Het
Fat4	T	A	3: 39,057,073 (GRCm39)	S4256R	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gpatch4	A	G	3: 87,962,672 (GRCm39)	D295G	probably benign	Het
Gpbar1	A	T	1: 74,318,551 (GRCm39)	I265F	probably benign	Het
Gria1	T	G	11: 57,080,542 (GRCm39)	V175G	probably damaging	Het
Hacl1	A	T	14: 31,344,941 (GRCm39)		probably benign	Het
Hnrnpc	A	G	14: 52,312,629 (GRCm39)		probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Ifnar1	T	A	16: 91,298,639 (GRCm39)	C419S	probably damaging	Het
Irx4	T	A	13: 73,414,703 (GRCm39)		probably null	Het
Itga2	T	G	13: 114,982,392 (GRCm39)	N1038H	probably benign	Het
Kif16b	C	T	2: 142,554,075 (GRCm39)	D908N	probably benign	Het
Lamc1	A	G	1: 153,122,678 (GRCm39)		probably benign	Het
Lrig3	A	G	10: 125,844,605 (GRCm39)	T690A	probably damaging	Het
Lrp2	T	C	2: 69,341,361 (GRCm39)	K940E	probably damaging	Het
Macf1	A	G	4: 123,363,608 (GRCm39)	S1775P	probably damaging	Het
Mrps27	G	T	13: 99,546,303 (GRCm39)		probably benign	Het
Ncam1	A	G	9: 49,481,118 (GRCm39)		probably benign	Het
Nopchap1	A	G	10: 83,197,920 (GRCm39)	D42G	probably damaging	Het
Or2z2	T	C	11: 58,346,140 (GRCm39)	I212V	possibly damaging	Het
Or51a5	A	T	7: 102,771,643 (GRCm39)	M112K	possibly damaging	Het
Pbrm1	T	G	14: 30,786,777 (GRCm39)	D631E	probably benign	Het
Pdc	A	T	1: 150,204,165 (GRCm39)		probably benign	Het
Pkd1	T	C	17: 24,793,766 (GRCm39)	S1818P	probably damaging	Het
Ptpru	T	C	4: 131,520,954 (GRCm39)	N784S	probably benign	Het
Rab35	G	A	5: 115,783,723 (GRCm39)	R170Q	probably benign	Het
Rerg	A	T	6: 137,033,305 (GRCm39)	C123*	probably null	Het
Ros1	A	G	10: 52,070,919 (GRCm39)		probably benign	Het
Siglece	A	G	7: 43,309,355 (GRCm39)	Y68H	probably damaging	Het
Slc28a2	T	A	2: 122,288,762 (GRCm39)		probably null	Het
Slc4a11	T	C	2: 130,530,077 (GRCm39)	K234E	probably damaging	Het
Sqor	C	T	2: 122,639,970 (GRCm39)	P158S	probably benign	Het
Tcerg1	C	T	18: 42,656,021 (GRCm39)	P110S	unknown	Het
Tmem39b	A	C	4: 129,580,779 (GRCm39)	Y238D	possibly damaging	Het
Ttll10	T	C	4: 156,132,005 (GRCm39)		probably benign	Het
Ubap2l	A	T	3: 89,916,520 (GRCm39)	L898Q	probably damaging	Het
Uggt1	A	T	1: 36,199,027 (GRCm39)	V1207E	probably damaging	Het
Uhrf2	A	G	19: 30,070,176 (GRCm39)	D775G	probably damaging	Het
Utp25	A	T	1: 192,797,136 (GRCm39)		probably benign	Het
Vmn1r196	G	A	13: 22,477,557 (GRCm39)	M65I	probably benign	Het
Vmn1r87	T	G	7: 12,865,583 (GRCm39)	T235P	probably damaging	Het
Vmn2r96	T	A	17: 18,804,262 (GRCm39)	M504K	probably benign	Het
Zdbf2	A	T	1: 63,344,449 (GRCm39)	I943F	possibly damaging	Het
Zfp78	A	G	7: 6,376,157 (GRCm39)	D22G	probably damaging	Het
Zfp827	C	T	8: 79,905,706 (GRCm39)		probably null	Het
Zfyve9	A	T	4: 108,576,961 (GRCm39)	L40*	probably null	Het

Other mutations in Tm6sf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Tm6sf2	APN	8	70,530,565 (GRCm39)	missense	probably damaging	1.00
IGL01382:Tm6sf2	APN	8	70,531,018 (GRCm39)	missense	probably damaging	1.00
IGL01625:Tm6sf2	APN	8	70,528,733 (GRCm39)	missense	probably null	1.00
decadence	UTSW	8	70,528,174 (GRCm39)	missense	probably damaging	1.00
R0145:Tm6sf2	UTSW	8	70,530,518 (GRCm39)	splice site	probably benign
R0333:Tm6sf2	UTSW	8	70,530,564 (GRCm39)	missense	probably damaging	1.00
R1427:Tm6sf2	UTSW	8	70,528,232 (GRCm39)	missense	probably damaging	0.96
R1665:Tm6sf2	UTSW	8	70,531,580 (GRCm39)	splice site	probably benign
R1863:Tm6sf2	UTSW	8	70,532,375 (GRCm39)	missense	probably damaging	0.99
R2106:Tm6sf2	UTSW	8	70,532,396 (GRCm39)	missense	probably benign	0.36
R4974:Tm6sf2	UTSW	8	70,528,128 (GRCm39)	intron	probably benign
R5358:Tm6sf2	UTSW	8	70,526,939 (GRCm39)	missense	possibly damaging	0.90
R5875:Tm6sf2	UTSW	8	70,528,039 (GRCm39)	missense	possibly damaging	0.58
R5914:Tm6sf2	UTSW	8	70,528,213 (GRCm39)	missense	probably damaging	0.99
R6214:Tm6sf2	UTSW	8	70,525,724 (GRCm39)	missense	possibly damaging	0.69
R6215:Tm6sf2	UTSW	8	70,525,724 (GRCm39)	missense	possibly damaging	0.69
R6567:Tm6sf2	UTSW	8	70,528,174 (GRCm39)	missense	probably damaging	1.00
R7001:Tm6sf2	UTSW	8	70,530,982 (GRCm39)	missense	probably damaging	0.99
R7180:Tm6sf2	UTSW	8	70,528,656 (GRCm39)	missense	probably benign	0.22
R7448:Tm6sf2	UTSW	8	70,530,589 (GRCm39)	missense	possibly damaging	0.48
R8098:Tm6sf2	UTSW	8	70,526,972 (GRCm39)	missense	probably damaging	1.00
R9259:Tm6sf2	UTSW	8	70,530,585 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTATACTCGGGAGAGCCTCCTTG -3'
(R):5'- GAGCCCACAATAATCACTCTGGTCC -3'

Sequencing Primer
(F):5'- CTTGGCACTCAGGGAGGTAG -3'
(R):5'- TCAGAGTTGGTGAAGAACTTCC -3'

Posted On

2013-06-12