Mutagenetix > Incidental Mutation

Incidental Mutation 'R5875:Tm6sf2'

455472

Institutional Source

Beutler Lab

Gene Symbol

Tm6sf2

Ensembl Gene

ENSMUSG00000036151

Gene Name

transmembrane 6 superfamily member 2

Synonyms

MMRRC Submission

044082-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5875 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70525574-70532716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70528039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 86 (D86G)

Ref Sequence

ENSEMBL: ENSMUSP00000105788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011450] [ENSMUST00000049197] [ENSMUST00000110160]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000011450

SMART Domains

Protein: ENSMUSP00000011450
Gene: ENSMUSG00000011306

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
low complexity region	88	97	N/A	INTRINSIC
SWAP	185	239	8e-20	SMART
SWAP	260	314	4.09e-17	SMART
low complexity region	344	365	N/A	INTRINSIC
low complexity region	439	452	N/A	INTRINSIC
G_patch	558	605	3.25e-17	SMART
low complexity region	628	643	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049197
AA Change: D86G

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046114
Gene: ENSMUSG00000036151
AA Change: D86G

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

possibly damaging
Transcript: ENSMUST00000110160
AA Change: D86G

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105788
Gene: ENSMUSG00000036151
AA Change: D86G

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

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.9%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	A	G	2: 127,028,737 (GRCm39)	V154A	possibly damaging	Het
Abcc1	A	G	16: 14,284,901 (GRCm39)	E1250G	possibly damaging	Het
Ajap1	A	C	4: 153,516,798 (GRCm39)	I181R	probably damaging	Het
Akap9	A	G	5: 4,127,285 (GRCm39)	Y3711C	probably benign	Het
Ark2c	T	C	18: 77,650,877 (GRCm39)		probably benign	Het
Arl1	T	C	10: 88,577,841 (GRCm39)	S137P	probably benign	Het
Atp6v0a2	G	A	5: 124,793,391 (GRCm39)	V583I	probably benign	Het
Cdca7	T	A	2: 72,313,901 (GRCm39)	M230K	probably benign	Het
Chd9	A	T	8: 91,778,464 (GRCm39)	D2841V	probably damaging	Het
Chp1	T	A	2: 119,402,296 (GRCm39)	F90Y	probably damaging	Het
Ckap5	A	G	2: 91,391,206 (GRCm39)	T345A	probably benign	Het
Clca4b	A	C	3: 144,628,650 (GRCm39)	S352R	probably benign	Het
Cmya5	A	G	13: 93,231,692 (GRCm39)	V1132A	probably benign	Het
Crb2	T	A	2: 37,677,266 (GRCm39)		probably null	Het
Crhbp	A	G	13: 95,580,304 (GRCm39)	F99L	probably benign	Het
Dnmt3l	A	T	10: 77,889,772 (GRCm39)	M210L	probably benign	Het
Dyrk2	T	A	10: 118,696,602 (GRCm39)	R219W	probably damaging	Het
Exosc1	A	G	19: 41,916,542 (GRCm39)	I78T	probably damaging	Het
Exosc9	T	C	3: 36,615,342 (GRCm39)		probably null	Het
Frmd5	A	G	2: 121,388,959 (GRCm39)		probably benign	Het
Gata2	T	C	6: 88,179,473 (GRCm39)	L315P	probably damaging	Het
Gm17067	G	A	7: 42,357,470 (GRCm39)	T344I	probably benign	Het
Gm4884	A	T	7: 40,692,360 (GRCm39)	T110S	possibly damaging	Het
Hapln3	T	C	7: 78,771,721 (GRCm39)	E56G	probably benign	Het
Helq	A	C	5: 100,944,336 (GRCm39)	I258S	probably damaging	Het
Hoxd10	T	C	2: 74,522,426 (GRCm39)	Y35H	possibly damaging	Het
Inpp5b	T	C	4: 124,674,199 (GRCm39)	V302A	possibly damaging	Het
Inpp5d	T	A	1: 87,645,696 (GRCm39)	I1027N	possibly damaging	Het
Ints2	T	C	11: 86,129,138 (GRCm39)	S482G	probably benign	Het
Itih1	C	T	14: 30,651,487 (GRCm39)	V902I	probably benign	Het
Jkampl	T	C	6: 73,446,028 (GRCm39)	I174V	possibly damaging	Het
Kctd16	T	A	18: 40,390,447 (GRCm39)		probably benign	Het
Kif27	T	C	13: 58,458,918 (GRCm39)	N971S	probably benign	Het
Klra17	T	C	6: 129,851,791 (GRCm39)	D27G	probably benign	Het
Leo1	G	C	9: 75,357,842 (GRCm39)	R412S	probably damaging	Het
Lonrf2	T	C	1: 38,846,128 (GRCm39)	N348S	probably benign	Het
Lpp	G	A	16: 24,427,059 (GRCm39)	G62E	probably benign	Het
Lyn	G	A	4: 3,745,631 (GRCm39)		probably null	Het
Macf1	T	A	4: 123,326,107 (GRCm39)	N5128I	possibly damaging	Het
Mapk7	T	A	11: 61,384,524 (GRCm39)	I61L	probably benign	Het
Mindy1	T	C	3: 95,202,125 (GRCm39)	V334A	probably damaging	Het
Muc20	G	A	16: 32,614,189 (GRCm39)	T396I	possibly damaging	Het
Myo5b	A	T	18: 74,840,973 (GRCm39)		probably null	Het
Noc4l	A	C	5: 110,799,176 (GRCm39)		probably null	Het
Oas1c	A	G	5: 120,943,627 (GRCm39)	Y171H	probably damaging	Het
Pclo	A	T	5: 14,730,614 (GRCm39)		probably benign	Het
Pmpcb	G	A	5: 21,947,944 (GRCm39)	E216K	probably benign	Het
Pskh1	G	A	8: 106,639,731 (GRCm39)	R137Q	possibly damaging	Het
Ptprb	T	G	10: 116,184,071 (GRCm39)	W1628G	probably benign	Het
Ranbp3	T	A	17: 57,014,955 (GRCm39)		probably null	Het
Sart1	T	C	19: 5,433,823 (GRCm39)	D338G	probably damaging	Het
Scn8a	T	A	15: 100,870,703 (GRCm39)	Y251*	probably null	Het
Sdk2	G	T	11: 113,720,885 (GRCm39)	T1348K	probably benign	Het
Sec16a	A	G	2: 26,323,379 (GRCm39)	Y1272H	probably damaging	Het
Slc26a1	A	T	5: 108,819,903 (GRCm39)	L432Q	probably damaging	Het
Susd1	A	T	4: 59,412,203 (GRCm39)	F117I	possibly damaging	Het
Taf5	A	T	19: 47,064,549 (GRCm39)	Y465F	probably damaging	Het
Tcstv1a	T	A	13: 120,355,630 (GRCm39)	M1L	probably benign	Het
Tectb	A	G	19: 55,178,058 (GRCm39)	D193G	possibly damaging	Het
Tex56	T	G	13: 35,116,429 (GRCm39)	C59W	probably damaging	Het
Tirap	G	A	9: 35,100,465 (GRCm39)	P73L	probably damaging	Het
Tmem161b	A	T	13: 84,442,977 (GRCm39)	H481L	probably damaging	Het
Tnrc6c	G	A	11: 117,650,534 (GRCm39)	V1763I	probably damaging	Het
Ubxn1	T	C	19: 8,849,584 (GRCm39)	S75P	probably benign	Het
Uhrf2	A	G	19: 30,066,702 (GRCm39)	K709E	probably damaging	Het
Vmn2r101	T	A	17: 19,809,092 (GRCm39)	Y74N	probably damaging	Het
Xirp2	A	G	2: 67,335,424 (GRCm39)	E81G	probably benign	Het
Zbtb45	A	G	7: 12,742,237 (GRCm39)	V7A	possibly damaging	Het
Zfp668	C	A	7: 127,465,474 (GRCm39)	R570L	possibly damaging	Het
Zmiz1	T	A	14: 25,636,390 (GRCm39)	M125K	possibly damaging	Het
Zmiz2	T	C	11: 6,355,072 (GRCm39)	L913P	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
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'- GGACCTGATGTTTCAAGCCC -3'
(R):5'- CAGTACCATCCCAGTAGCAG -3'

Sequencing Primer
(F):5'- GAGAGCCTGTAATCCCAGCAATTG -3'
(R):5'- TCCCAGTAGCAGATGAAGATGCC -3'

Posted On

2017-02-10