Mutagenetix > Incidental Mutation

Incidental Mutation 'R0661:Tm6sf1'

61839

Institutional Source

Beutler Lab

Gene Symbol

Tm6sf1

Ensembl Gene

ENSMUSG00000038623

Gene Name

transmembrane 6 superfamily member 1

Synonyms

C630016D09Rik

MMRRC Submission

038846-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R0661 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

81508749-81534182 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 81515093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041890] [ENSMUST00000119543] [ENSMUST00000119543] [ENSMUST00000126334]

AlphaFold

P58749

Predicted Effect

probably null
Transcript: ENSMUST00000041890

SMART Domains

Protein: ENSMUSP00000038017
Gene: ENSMUSG00000038623

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
transmembrane domain	32	54	N/A	INTRINSIC
transmembrane domain	63	82	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	167	189	N/A	INTRINSIC
Pfam:DUF2781	217	356	6.9e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000119543

SMART Domains

Protein: ENSMUSP00000112400
Gene: ENSMUSG00000038623

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	47	69	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
Pfam:DUF2781	126	267	9.7e-40	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000119543

SMART Domains

Protein: ENSMUSP00000112400
Gene: ENSMUSG00000038623

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	47	69	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
Pfam:DUF2781	126	267	9.7e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124616

Predicted Effect

probably benign
Transcript: ENSMUST00000126334

SMART Domains

Protein: ENSMUSP00000121292
Gene: ENSMUSG00000038623

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
transmembrane domain	32	54	N/A	INTRINSIC
transmembrane domain	63	82	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134861

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207657

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	T	A	3: 20,370,163 (GRCm39)	T148S	possibly damaging	Het
Anks3	A	G	16: 4,766,198 (GRCm39)	F124L	probably damaging	Het
Ar	T	A	X: 97,194,171 (GRCm39)	Y262N	probably damaging	Het
Asxl1	T	A	2: 153,242,644 (GRCm39)	S1065T	possibly damaging	Het
Brip1	A	T	11: 86,001,189 (GRCm39)	I749N	possibly damaging	Het
C1ra	T	A	6: 124,499,336 (GRCm39)	H507Q	probably benign	Het
Cdk9	G	A	2: 32,599,832 (GRCm39)	T135I	probably damaging	Het
Col1a1	A	G	11: 94,840,215 (GRCm39)	T1088A	unknown	Het
Cpne2	T	C	8: 95,282,667 (GRCm39)	I283T	possibly damaging	Het
Dcaf17	T	C	2: 70,918,779 (GRCm39)	L451P	probably damaging	Het
Dhx57	C	T	17: 80,576,293 (GRCm39)	C599Y	probably damaging	Het
Drd1	T	A	13: 54,207,057 (GRCm39)	N379Y	possibly damaging	Het
Fsip2	A	G	2: 82,816,513 (GRCm39)	D4082G	possibly damaging	Het
Grin2a	G	T	16: 9,810,336 (GRCm39)	P21Q	probably damaging	Het
Heyl	G	T	4: 123,139,824 (GRCm39)	V128F	probably damaging	Het
Hoxd12	A	G	2: 74,506,236 (GRCm39)	E216G	probably damaging	Het
Inpp4b	C	A	8: 82,468,091 (GRCm39)	A18E	possibly damaging	Het
Invs	G	A	4: 48,421,861 (GRCm39)	R831H	probably benign	Het
Lrrk2	T	C	15: 91,671,219 (GRCm39)	V2000A	probably damaging	Het
Msh3	T	C	13: 92,481,604 (GRCm39)	N303D	possibly damaging	Het
Or11g27	A	G	14: 50,771,552 (GRCm39)	T228A	probably benign	Het
Or5an9	T	C	19: 12,187,068 (GRCm39)	L46P	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Pcdh18	A	C	3: 49,707,767 (GRCm39)	S902R	possibly damaging	Het
Prdm15	A	T	16: 97,630,882 (GRCm39)	V190E	probably benign	Het
Ranbp2	T	G	10: 58,314,555 (GRCm39)	S1758R	probably benign	Het
Rimbp2	A	G	5: 128,863,774 (GRCm39)	V738A	probably benign	Het
Rtl5	T	C	X: 101,114,056 (GRCm39)	H138R	possibly damaging	Het
Sec11a	A	G	7: 80,584,787 (GRCm39)	V50A	probably damaging	Het
Shroom1	T	C	11: 53,357,764 (GRCm39)	S772P	possibly damaging	Het
Slc26a6	T	C	9: 108,736,312 (GRCm39)		probably null	Het
Slf1	A	G	13: 77,231,715 (GRCm39)	W555R	probably benign	Het
Spx	A	G	6: 142,359,565 (GRCm39)	S5G	possibly damaging	Het
Tcp1	T	C	17: 13,142,200 (GRCm39)	V398A	probably benign	Het
Tsbp1	A	T	17: 34,678,887 (GRCm39)	I217F	possibly damaging	Het
Ufsp2	T	A	8: 46,432,270 (GRCm39)	M1K	probably null	Het
Usf1	G	A	1: 171,245,067 (GRCm39)	R196Q	probably damaging	Het
Vmn2r75	G	A	7: 85,814,866 (GRCm39)	A209V	probably benign	Het
Yme1l1	T	A	2: 23,081,054 (GRCm39)	M442K	probably damaging	Het
Zfand3	A	G	17: 30,354,372 (GRCm39)	E63G	probably damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het

Other mutations in Tm6sf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02115:Tm6sf1	APN	7	81,525,551 (GRCm39)	missense	probably damaging	1.00
IGL02145:Tm6sf1	APN	7	81,513,000 (GRCm39)	nonsense	probably null
IGL02472:Tm6sf1	APN	7	81,525,572 (GRCm39)	splice site	probably benign
IGL02862:Tm6sf1	APN	7	81,520,504 (GRCm39)	missense	probably damaging	0.98
R0083:Tm6sf1	UTSW	7	81,515,093 (GRCm39)	critical splice donor site	probably null
R0108:Tm6sf1	UTSW	7	81,515,093 (GRCm39)	critical splice donor site	probably null
R3019:Tm6sf1	UTSW	7	81,525,813 (GRCm39)	missense	probably benign	0.01
R4562:Tm6sf1	UTSW	7	81,509,209 (GRCm39)	missense	probably damaging	1.00
R4825:Tm6sf1	UTSW	7	81,515,008 (GRCm39)	missense	probably damaging	0.97
R4851:Tm6sf1	UTSW	7	81,515,091 (GRCm39)	missense	probably null	1.00
R5285:Tm6sf1	UTSW	7	81,509,200 (GRCm39)	missense	possibly damaging	0.94
R6454:Tm6sf1	UTSW	7	81,525,801 (GRCm39)	missense	probably damaging	1.00
R7624:Tm6sf1	UTSW	7	81,518,458 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CTGTGTAGATGACGCCCACAGAATC -3'
(R):5'- TGGTTGGTAGGGACTTCCAAAAGC -3'

Sequencing Primer
(F):5'- CAGAATCTTCTGGGACACCTAGTG -3'
(R):5'- gcttcccaaatgctgagattac -3'

Posted On

2013-07-30