Mutagenetix > Incidental Mutation

Incidental Mutation 'R0687:Tm7sf3'

61194

Institutional Source

Beutler Lab

Gene Symbol

Tm7sf3

Ensembl Gene

ENSMUSG00000040234

Gene Name

transmembrane 7 superfamily member 3

Synonyms

2010003B14Rik

MMRRC Submission

038872-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R0687 (G1)

Quality Score

122

Status

Not validated

Chromosome

Chromosomal Location

146503774-146536103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146523388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 163 (N163I)

Ref Sequence

ENSEMBL: ENSMUSP00000045650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037709] [ENSMUST00000127529]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037709
AA Change: N163I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000045650
Gene: ENSMUSG00000040234
AA Change: N163I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:DUF4203	291	498	8.5e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127529

SMART Domains

Protein: ENSMUSP00000118517
Gene: ENSMUSG00000040234

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147027

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa10	T	A	8: 62,545,606 (GRCm39)	D42V	possibly damaging	Het
B3gnt9	T	A	8: 105,981,415 (GRCm39)		probably benign	Het
Ccdc150	A	T	1: 54,324,790 (GRCm39)		probably null	Het
Fstl5	A	G	3: 76,615,119 (GRCm39)	I727V	possibly damaging	Het
Garre1	T	G	7: 33,944,843 (GRCm39)	Q679P	possibly damaging	Het
Mtrex	T	C	13: 113,050,895 (GRCm39)	T227A	probably damaging	Het
Nae1	C	A	8: 105,239,876 (GRCm39)	R484L	probably damaging	Het
Nudt19	T	A	7: 35,250,897 (GRCm39)	T281S	probably benign	Het
Osgin1	T	A	8: 120,172,571 (GRCm39)	V455E	probably damaging	Het
Pcnx3	A	T	19: 5,734,361 (GRCm39)	D655E	probably damaging	Het
Plch1	C	T	3: 63,623,450 (GRCm39)	V617M	probably damaging	Het
Polk	A	T	13: 96,620,525 (GRCm39)	N579K	probably damaging	Het
Scube2	C	A	7: 109,428,335 (GRCm39)	V513F	possibly damaging	Het
Spen	T	C	4: 141,215,339 (GRCm39)	M498V	unknown	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Usp24	A	T	4: 106,277,701 (GRCm39)	K2277I	probably damaging	Het

Other mutations in Tm7sf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Tm7sf3	APN	6	146,507,692 (GRCm39)	missense	possibly damaging	0.51
IGL01930:Tm7sf3	APN	6	146,512,431 (GRCm39)	missense	possibly damaging	0.71
IGL02073:Tm7sf3	APN	6	146,525,208 (GRCm39)	missense	possibly damaging	0.96
IGL02720:Tm7sf3	APN	6	146,514,872 (GRCm39)	splice site	probably benign
IGL02815:Tm7sf3	APN	6	146,514,971 (GRCm39)	splice site	probably null
IGL03255:Tm7sf3	APN	6	146,507,618 (GRCm39)	unclassified	probably benign
R0245:Tm7sf3	UTSW	6	146,520,107 (GRCm39)	missense	possibly damaging	0.53
R0402:Tm7sf3	UTSW	6	146,507,685 (GRCm39)	missense	possibly damaging	0.95
R0763:Tm7sf3	UTSW	6	146,507,787 (GRCm39)	missense	possibly damaging	0.93
R1419:Tm7sf3	UTSW	6	146,505,475 (GRCm39)	missense	possibly damaging	0.71
R1511:Tm7sf3	UTSW	6	146,511,376 (GRCm39)	missense	probably benign	0.05
R4880:Tm7sf3	UTSW	6	146,511,358 (GRCm39)	missense	possibly damaging	0.93
R5930:Tm7sf3	UTSW	6	146,505,409 (GRCm39)	missense	possibly damaging	0.53
R6160:Tm7sf3	UTSW	6	146,507,787 (GRCm39)	nonsense	probably null
R6229:Tm7sf3	UTSW	6	146,514,887 (GRCm39)	missense	possibly damaging	0.71
R6755:Tm7sf3	UTSW	6	146,511,471 (GRCm39)	splice site	probably null
R6912:Tm7sf3	UTSW	6	146,527,601 (GRCm39)	missense	possibly damaging	0.91
R6920:Tm7sf3	UTSW	6	146,507,645 (GRCm39)	missense	possibly damaging	0.71
R8913:Tm7sf3	UTSW	6	146,527,621 (GRCm39)	nonsense	probably null
R9364:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9365:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9367:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9371:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9372:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9396:Tm7sf3	UTSW	6	146,523,472 (GRCm39)	missense	possibly damaging	0.53
R9447:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9449:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9450:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9451:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9454:Tm7sf3	UTSW	6	146,520,041 (GRCm39)	missense	probably benign	0.00
R9495:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9496:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9497:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9514:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9516:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9551:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9552:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9553:Tm7sf3	UTSW	6	146,525,179 (GRCm39)	missense	possibly damaging	0.85
R9576:Tm7sf3	UTSW	6	146,511,335 (GRCm39)	missense	probably damaging	1.00
R9652:Tm7sf3	UTSW	6	146,527,698 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCTAAGCTCACAGCAGGCTTACAC -3'
(R):5'- AGGGAACTGTACCCTTCTGACCTC -3'

Sequencing Primer
(F):5'- CCGTAAGCACTAAGGAGATTATTCAG -3'
(R):5'- TCAGTCACCGGACAGCAG -3'

Posted On

2013-07-30