Mutagenetix > Incidental Mutation

Incidental Mutation 'R6229:Tm7sf3'

504550

Institutional Source

Beutler Lab

Gene Symbol

Tm7sf3

Ensembl Gene

ENSMUSG00000040234

Gene Name

transmembrane 7 superfamily member 3

Synonyms

2010003B14Rik

MMRRC Submission

044358-MU

Accession Numbers

Essential gene?

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

Stock #

R6229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146503774-146536103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146514887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 310 (F310S)

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: F310S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045650
Gene: ENSMUSG00000040234
AA Change: F310S

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.0%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	A	1: 120,099,213 (GRCm39)		probably null	Het
Adamts6	G	A	13: 104,483,900 (GRCm39)		probably null	Het
Add3	C	A	19: 53,223,277 (GRCm39)	A343D	probably benign	Het
Ankub1	T	C	3: 57,572,528 (GRCm39)	D398G	probably benign	Het
Apbb1	C	T	7: 105,222,937 (GRCm39)	A225T	probably damaging	Het
Apbb1	C	A	7: 105,222,938 (GRCm39)	W224C	probably damaging	Het
Arhgef40	A	T	14: 52,227,547 (GRCm39)	Q431L	probably benign	Het
Calm4	A	G	13: 3,888,038 (GRCm39)	D48G	possibly damaging	Het
Ccdc18	A	T	5: 108,319,484 (GRCm39)	I502L	probably benign	Het
Cftr	T	C	6: 18,220,683 (GRCm39)	S185P	probably damaging	Het
Chd2	C	A	7: 73,101,471 (GRCm39)	K1418N	possibly damaging	Het
Cmya5	A	C	13: 93,229,814 (GRCm39)	V1758G	probably benign	Het
Cpsf4l	T	C	11: 113,599,680 (GRCm39)	K35R	possibly damaging	Het
Cyp2c68	A	T	19: 39,727,622 (GRCm39)	V119E	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah3	G	T	7: 119,564,711 (GRCm39)	Q2651K	probably benign	Het
Eif4g2	T	C	7: 110,676,920 (GRCm39)		probably null	Het
Enc1	A	G	13: 97,381,999 (GRCm39)	R170G	probably benign	Het
Enpp2	T	C	15: 54,741,228 (GRCm39)	R357G	probably damaging	Het
Epb41l2	A	G	10: 25,375,734 (GRCm39)	K58E	possibly damaging	Het
Fis1	A	G	5: 136,994,528 (GRCm39)		probably null	Het
Fmo9	A	C	1: 166,505,126 (GRCm39)	M89R	possibly damaging	Het
Gm6096	A	C	7: 33,950,676 (GRCm39)	I72L	possibly damaging	Het
Golga5	G	A	12: 102,450,740 (GRCm39)	M464I	probably benign	Het
Got1l1	T	C	8: 27,688,464 (GRCm39)		probably null	Het
Ift56	T	A	6: 38,371,975 (GRCm39)	N188K	probably benign	Het
Igfbpl1	A	G	4: 45,813,517 (GRCm39)	Y233H	probably damaging	Het
Il18r1	T	C	1: 40,513,923 (GRCm39)	I43T	probably benign	Het
Ints8	T	C	4: 11,252,891 (GRCm39)	N64D	probably damaging	Het
Kalrn	A	G	16: 33,875,441 (GRCm39)	S44P	probably damaging	Het
Kif13b	G	T	14: 64,976,016 (GRCm39)	G444W	probably damaging	Het
Lmo1	A	G	7: 108,742,832 (GRCm39)	C13R	probably damaging	Het
Lrfn2	T	A	17: 49,404,160 (GRCm39)	M761K	possibly damaging	Het
Lrrd1	T	C	5: 3,913,887 (GRCm39)	I719T	probably damaging	Het
Madd	A	T	2: 90,974,015 (GRCm39)	V1423E	probably damaging	Het
Mbnl1	T	A	3: 60,528,749 (GRCm39)		probably null	Het
Mrps28	T	C	3: 8,965,097 (GRCm39)	D114G	probably damaging	Het
Muc6	T	A	7: 141,226,792 (GRCm39)	M1412L	probably benign	Het
Myf6	T	C	10: 107,330,280 (GRCm39)	K96E	possibly damaging	Het
Myrf	A	G	19: 10,197,162 (GRCm39)	V462A	probably benign	Het
Nbeal1	T	C	1: 60,287,524 (GRCm39)	S923P	possibly damaging	Het
Nckap1l	T	C	15: 103,381,549 (GRCm39)	L430P	possibly damaging	Het
Nfatc2ip	C	T	7: 125,995,113 (GRCm39)		probably null	Het
Or11g24	A	G	14: 50,662,662 (GRCm39)	R229G	probably benign	Het
Or12e10	G	T	2: 87,640,431 (GRCm39)	C89F	probably damaging	Het
Or2w4	T	C	13: 21,795,819 (GRCm39)	I107V	probably benign	Het
Or7g33	T	A	9: 19,449,014 (GRCm39)	I71F	possibly damaging	Het
Plin2	A	G	4: 86,586,903 (GRCm39)	V5A	probably benign	Het
Pramel31	T	C	4: 144,090,199 (GRCm39)	M413T	probably benign	Het
Ptprm	T	A	17: 66,995,295 (GRCm39)	D1311V	probably damaging	Het
Recql5	A	T	11: 115,821,540 (GRCm39)	I72N	probably damaging	Het
Sall2	A	T	14: 52,550,648 (GRCm39)	M847K	probably benign	Het
Slc23a1	T	C	18: 35,752,577 (GRCm39)	R567G	probably benign	Het
Slc28a1	G	A	7: 80,774,753 (GRCm39)	R200H	probably benign	Het
Smc4	T	A	3: 68,937,580 (GRCm39)	Y843*	probably null	Het
Syne2	C	A	12: 75,967,994 (GRCm39)	Q915K	probably benign	Het
Tas2r131	T	A	6: 132,933,985 (GRCm39)	I275F	probably damaging	Het
Tcf20	T	C	15: 82,739,081 (GRCm39)	H790R	probably damaging	Het
Tmem9b	T	A	7: 109,344,627 (GRCm39)		probably null	Het
Tnfaip8	A	G	18: 50,184,742 (GRCm39)		probably benign	Het
Top2b	T	G	14: 16,409,838 (GRCm38)	L835R	probably damaging	Het
Trappc8	A	T	18: 21,003,802 (GRCm39)	S209T	probably benign	Het
Uap1	C	T	1: 169,994,302 (GRCm39)	R58Q	probably benign	Het
Upk3bl	A	G	5: 136,092,915 (GRCm39)		probably null	Het
Usp34	A	G	11: 23,396,778 (GRCm39)	H596R	probably damaging	Het
Vmn1r181	C	T	7: 23,683,580 (GRCm39)	A15V	probably damaging	Het
Vmn2r54	T	A	7: 12,365,883 (GRCm39)	K350N	probably benign	Het
Vmn2r89	A	G	14: 51,693,178 (GRCm39)	H176R	probably benign	Het
Vwa7	A	G	17: 35,243,241 (GRCm39)	R640G	probably benign	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
R0687:Tm7sf3	UTSW	6	146,523,388 (GRCm39)	missense	possibly damaging	0.96
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
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'- ACTGCTGCCTCCAAACTCAG -3'
(R):5'- AGGGGCCGTGATCATGTTATTC -3'

Sequencing Primer
(F):5'- CAAACTCAGGGGGTTTTCCAGTC -3'
(R):5'- GGCCGTGATCATGTTATTCTTAAGCC -3'

Posted On

2018-02-28