Mutagenetix > Incidental Mutation

Incidental Mutation 'R7001:Tm6sf2'

544545

Institutional Source

Beutler Lab

Gene Symbol

Tm6sf2

Ensembl Gene

ENSMUSG00000036151

Gene Name

transmembrane 6 superfamily member 2

Synonyms

MMRRC Submission

045106-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70525574-70532716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 70530982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 245 (D245A)

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: D243A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046114
Gene: ENSMUSG00000036151
AA Change: D243A

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: D245A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105788
Gene: ENSMUSG00000036151
AA Change: D245A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,771,272 (GRCm39)	Q154K	probably benign	Het
Aldh6a1	T	G	12: 84,488,662 (GRCm39)	T75P	probably damaging	Het
Ank2	T	A	3: 126,871,230 (GRCm39)	H98L	probably damaging	Het
Ankib1	A	G	5: 3,744,781 (GRCm39)	F800S	probably benign	Het
Arhgap10	A	T	8: 78,091,717 (GRCm39)	M434K	possibly damaging	Het
Cap1	A	T	4: 122,758,408 (GRCm39)	F257L	probably benign	Het
Cdt1	T	A	8: 123,299,249 (GRCm39)	H510Q	probably damaging	Het
Clca3b	A	C	3: 144,533,733 (GRCm39)	D547E	possibly damaging	Het
Col24a1	T	C	3: 145,004,627 (GRCm39)	V35A	probably benign	Het
Cyp2j13	A	T	4: 95,945,112 (GRCm39)	N305K	probably damaging	Het
D3Ertd751e	T	A	3: 41,712,844 (GRCm39)		probably null	Het
D6Ertd527e	G	A	6: 87,088,194 (GRCm39)	G119D	unknown	Het
Ddc	T	C	11: 11,774,870 (GRCm39)		probably null	Het
Dnah12	A	T	14: 26,601,681 (GRCm39)	Y3713F	probably damaging	Het
Dock8	T	A	19: 25,077,041 (GRCm39)	S504T	probably benign	Het
Farp2	T	C	1: 93,547,906 (GRCm39)	F941L	possibly damaging	Het
Farp2	A	G	1: 93,547,952 (GRCm39)	N956S	possibly damaging	Het
Fbxo3	T	A	2: 103,881,569 (GRCm39)	H300Q	probably damaging	Het
Fcgrt	T	C	7: 44,751,466 (GRCm39)	T131A	probably benign	Het
Fndc7	G	A	3: 108,783,964 (GRCm39)	A215V	probably benign	Het
Frem1	T	C	4: 82,904,798 (GRCm39)	E890G	probably benign	Het
Fsip2	C	A	2: 82,817,269 (GRCm39)	P4334H	probably damaging	Het
Gcdh	C	A	8: 85,617,540 (GRCm39)	V227L	probably benign	Het
Gm8267	A	C	14: 44,960,385 (GRCm39)	M120R	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Lasp1	T	G	11: 97,697,659 (GRCm39)	H26Q	probably damaging	Het
Lrrcc1	T	A	3: 14,605,155 (GRCm39)	I297N	probably damaging	Het
Map1b	A	T	13: 99,567,101 (GRCm39)	N1873K	unknown	Het
Map2	A	G	1: 66,454,646 (GRCm39)	I1179V	probably benign	Het
Mtss1	A	C	15: 58,820,183 (GRCm39)		probably benign	Het
Mtus2	A	G	5: 148,214,438 (GRCm39)	E28G	probably damaging	Het
Muc6	G	A	7: 141,217,320 (GRCm39)	T2386I	probably damaging	Het
Myo3a	G	T	2: 22,337,188 (GRCm39)	V362L	probably benign	Het
N6amt1	G	A	16: 87,151,180 (GRCm39)	V14M	probably benign	Het
Nav1	A	T	1: 135,382,349 (GRCm39)		probably null	Het
Nol6	A	G	4: 41,121,279 (GRCm39)	S326P	probably benign	Het
Olr1	T	A	6: 129,465,074 (GRCm39)	E100V	probably damaging	Het
Or52ab4	A	G	7: 102,987,428 (GRCm39)	S56G	possibly damaging	Het
Or8k37	A	T	2: 86,469,495 (GRCm39)	S186T	probably benign	Het
Otop3	T	C	11: 115,230,479 (GRCm39)	Y119H	probably damaging	Het
Prb1b	C	T	6: 132,289,527 (GRCm39)	G99E	unknown	Het
Ryr2	A	T	13: 11,809,491 (GRCm39)	M778K	probably damaging	Het
Serpina3n	G	T	12: 104,375,184 (GRCm39)	M85I	probably benign	Het
Serpine2	A	G	1: 79,772,748 (GRCm39)	F390L	probably damaging	Het
Sf3b1	A	G	1: 55,040,205 (GRCm39)	V591A	probably damaging	Het
Sf3b1	A	G	1: 55,053,640 (GRCm39)		probably null	Het
Slc26a5	C	T	5: 22,016,334 (GRCm39)	V646I	probably damaging	Het
Slitrk3	T	A	3: 72,957,942 (GRCm39)	K277*	probably null	Het
Sv2c	A	G	13: 96,118,461 (GRCm39)	S463P	probably benign	Het
Tbc1d4	G	A	14: 101,696,185 (GRCm39)	T858M	probably benign	Het
Tbx18	T	A	9: 87,609,457 (GRCm39)	I193F	probably damaging	Het
Unc119	T	C	11: 78,239,380 (GRCm39)	Y234H	probably damaging	Het
Wrn	A	T	8: 33,842,157 (GRCm39)	S46T	probably benign	Het
Zfp729a	A	T	13: 67,768,468 (GRCm39)	I587K	probably benign	Het
Zfp872	C	A	9: 22,111,912 (GRCm39)	H464N	probably damaging	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
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
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'- CTCTGCAATCTTATGGTGAACCC -3'
(R):5'- TGAAACCCTGGAGTGCTTCTG -3'

Sequencing Primer
(F):5'- TCTTATGGTGAACCCCAAGGC -3'
(R):5'- GTGTCTTAAAGCACTGGATCTCAC -3'

Posted On

2019-05-13