Mutagenetix > Incidental Mutation

Incidental Mutation 'R0333:Tm6sf2'

38336

Institutional Source

Beutler Lab

Gene Symbol

Tm6sf2

Ensembl Gene

ENSMUSG00000036151

Gene Name

transmembrane 6 superfamily member 2

Synonyms

MMRRC Submission

038542-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0333 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

70525574-70532716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70530564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 215 (R215C)

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: R213C

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

SMART Domains

Protein: ENSMUSP00000046114
Gene: ENSMUSG00000036151
AA Change: R213C

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: R215C

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

SMART Domains

Protein: ENSMUSP00000105788
Gene: ENSMUSG00000036151
AA Change: R215C

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

0.7500

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (53/53)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alas1	T	C	9: 106,118,480 (GRCm39)	N214S	probably benign	Het
Antxr1	A	G	6: 87,165,820 (GRCm39)		probably benign	Het
Atxn7l3	A	T	11: 102,185,818 (GRCm39)		probably null	Het
Cab39l	A	G	14: 59,737,060 (GRCm39)	E60G	probably damaging	Het
Cdc5l	G	T	17: 45,704,142 (GRCm39)		probably benign	Het
Cux2	T	C	5: 121,998,671 (GRCm39)	E1423G	probably benign	Het
Dbndd1	G	T	8: 124,233,512 (GRCm39)	Q165K	probably damaging	Het
Drd1	C	A	13: 54,208,082 (GRCm39)	C37F	probably damaging	Het
Elp3	G	A	14: 65,828,042 (GRCm39)	P11L	probably benign	Het
F830045P16Rik	A	G	2: 129,314,777 (GRCm39)	Y167H	probably damaging	Het
Gimap3	G	A	6: 48,742,664 (GRCm39)	Q89*	probably null	Het
H2ac25	C	A	11: 58,845,685 (GRCm39)	S41*	probably null	Het
Herc1	G	A	9: 66,371,981 (GRCm39)		probably null	Het
Ipo11	A	G	13: 107,007,271 (GRCm39)	V603A	probably benign	Het
Kifap3	G	A	1: 163,624,833 (GRCm39)	A130T	probably damaging	Het
Klhl23	A	G	2: 69,664,241 (GRCm39)	Y530C	probably damaging	Het
Map4k1	C	T	7: 28,699,186 (GRCm39)		probably benign	Het
Mroh2b	T	A	15: 4,960,600 (GRCm39)	L778M	probably damaging	Het
Mtdh	T	C	15: 34,118,247 (GRCm39)	S344P	possibly damaging	Het
Ncoa3	T	G	2: 165,896,211 (GRCm39)	N371K	probably damaging	Het
Ncor2	C	A	5: 125,111,408 (GRCm39)		probably benign	Het
Nrn1l	A	G	8: 106,621,052 (GRCm39)	E48G	probably benign	Het
Nudcd1	A	G	15: 44,264,683 (GRCm39)	I271T	probably benign	Het
Or1e17	A	T	11: 73,831,593 (GRCm39)	I174F	possibly damaging	Het
Or2t1	T	C	14: 14,328,498 (GRCm38)	L129P	probably damaging	Het
Pard3b	A	G	1: 62,269,371 (GRCm39)	N653S	probably benign	Het
Plekhg1	A	C	10: 3,914,419 (GRCm39)	K1380N	probably damaging	Het
Ppara	T	A	15: 85,675,161 (GRCm39)	I210N	probably damaging	Het
Ppp2r5b	A	G	19: 6,279,077 (GRCm39)		probably benign	Het
Prkn	T	C	17: 11,286,027 (GRCm39)	F6L	probably damaging	Het
Prr14l	A	G	5: 32,985,337 (GRCm39)	L1386P	probably damaging	Het
Ralgapa1	A	G	12: 55,829,685 (GRCm39)		probably benign	Het
Reln	A	T	5: 22,134,240 (GRCm39)	L2563I	probably damaging	Het
Rps7	A	G	12: 28,681,200 (GRCm39)		probably benign	Het
Rslcan18	T	C	13: 67,246,686 (GRCm39)	K309E	probably damaging	Het
Sec14l5	C	T	16: 4,984,930 (GRCm39)	T92M	probably damaging	Het
Slc22a8	G	A	19: 8,585,514 (GRCm39)		probably benign	Het
Smad2	G	A	18: 76,395,692 (GRCm39)	A44T	probably damaging	Het
Smcr8	T	C	11: 60,671,048 (GRCm39)	V732A	possibly damaging	Het
Spata2l	A	G	8: 123,960,371 (GRCm39)	F306S	probably damaging	Het
Stab2	T	C	10: 86,677,491 (GRCm39)	D2552G	probably benign	Het
Tctn3	A	T	19: 40,595,711 (GRCm39)	L358H	possibly damaging	Het
Tk2	C	T	8: 104,975,146 (GRCm39)		probably benign	Het
Tmbim6	T	C	15: 99,304,555 (GRCm39)	I204T	probably damaging	Het
Tubgcp2	C	A	7: 139,579,260 (GRCm39)	W675C	probably damaging	Het
Usp48	T	A	4: 137,321,794 (GRCm39)	I62N	probably damaging	Het
Vmn2r74	T	C	7: 85,601,491 (GRCm39)	T716A	probably benign	Het
Vps13b	C	A	15: 35,879,949 (GRCm39)	T3008K	probably damaging	Het
Wnk1	G	A	6: 119,905,124 (GRCm39)		probably benign	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
R0502:Tm6sf2	UTSW	8	70,530,591 (GRCm39)	missense	probably damaging	0.98
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'- TCCTATACCCCTGACATGGTGAGTG -3'
(R):5'- GGTCAGAGTTGGTGAAGAACTTCCTTG -3'

Sequencing Primer
(F):5'- ccaacaccacacctaagcc -3'
(R):5'- AAGAACTTCCTTGGGTGATCAG -3'

Posted On

2013-05-23