Mutagenetix > Incidental Mutation

Incidental Mutation 'R0367:Tm9sf2'

30292

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf2

Ensembl Gene

ENSMUSG00000025544

Gene Name

transmembrane 9 superfamily member 2

Synonyms

1500001N15Rik, P76, D14Ertd64e

MMRRC Submission

038573-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R0367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122344450-122397016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122392780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 432 (F432S)

Ref Sequence

ENSEMBL: ENSMUSP00000131227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026624] [ENSMUST00000171318]

AlphaFold

P58021

Predicted Effect

probably benign
Transcript: ENSMUST00000026624
AA Change: F597S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000026624
Gene: ENSMUSG00000025544
AA Change: F597S

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
Pfam:EMP70	74	619	4.5e-209	PFAM
transmembrane domain	630	652	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171318
AA Change: F432S

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131227
Gene: ENSMUSG00000025544
AA Change: F432S

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
Pfam:EMP70	73	112	5.9e-9	PFAM
Pfam:EMP70	109	455	1e-172	PFAM
transmembrane domain	465	487	N/A	INTRINSIC

Meta Mutation Damage Score

0.1626

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,049,961 (GRCm39)	S12P	probably damaging	Het
Alx4	T	A	2: 93,498,953 (GRCm39)	D228E	probably damaging	Het
Antxr2	T	C	5: 98,177,455 (GRCm39)	E71G	probably benign	Het
Arhgap19	C	A	19: 41,790,417 (GRCm39)	G17V	probably benign	Het
C8a	A	C	4: 104,719,791 (GRCm39)		probably null	Het
Ccne2	T	A	4: 11,201,426 (GRCm39)		probably benign	Het
Cdc42bpg	G	A	19: 6,361,425 (GRCm39)	C317Y	probably damaging	Het
Cend1	C	A	7: 141,007,808 (GRCm39)	R4L	probably damaging	Het
Cfap44	T	C	16: 44,253,839 (GRCm39)		probably null	Het
Cpt1c	T	C	7: 44,608,999 (GRCm39)	N774S	probably benign	Het
Csmd1	C	T	8: 15,967,270 (GRCm39)	D3198N	probably damaging	Het
Dapk2	C	T	9: 66,176,168 (GRCm39)	S323F	probably damaging	Het
Ddx60	T	G	8: 62,470,783 (GRCm39)	I1425R	possibly damaging	Het
Edem1	T	A	6: 108,823,713 (GRCm39)	Y370N	probably damaging	Het
Elp5	A	G	11: 69,865,967 (GRCm39)	V103A	probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fat1	A	G	8: 45,477,350 (GRCm39)	D2132G	probably damaging	Het
Fat2	A	T	11: 55,182,919 (GRCm39)		probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gp2	C	T	7: 119,053,791 (GRCm39)	D57N	probably damaging	Het
Gpr161	T	C	1: 165,144,805 (GRCm39)		probably benign	Het
Gstcd	G	A	3: 132,692,138 (GRCm39)		probably benign	Het
Hipk3	A	T	2: 104,261,594 (GRCm39)	C980*	probably null	Het
Htr2a	A	T	14: 74,879,649 (GRCm39)	I93L	probably damaging	Het
Itpr2	T	G	6: 146,135,506 (GRCm39)	K1775N	probably damaging	Het
Kcnt1	G	A	2: 25,797,640 (GRCm39)	V864I	probably damaging	Het
Kcnt2	A	T	1: 140,278,963 (GRCm39)	Y38F	probably damaging	Het
Limch1	G	A	5: 67,015,297 (GRCm39)		probably null	Het
Lmtk2	C	T	5: 144,111,103 (GRCm39)	R608C	possibly damaging	Het
Loxhd1	C	T	18: 77,513,453 (GRCm39)		probably benign	Het
Lpin2	A	T	17: 71,522,017 (GRCm39)	E17V	probably damaging	Het
Lrrc34	A	T	3: 30,684,142 (GRCm39)	F342I	probably benign	Het
Lyzl6	A	G	11: 103,527,578 (GRCm39)		probably null	Het
Map3k4	A	C	17: 12,476,928 (GRCm39)		probably benign	Het
Mocs3	C	T	2: 168,073,602 (GRCm39)	P350S	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Or1ad8	A	G	11: 50,897,904 (GRCm39)	Y35C	probably damaging	Het
Or4c52	A	C	2: 89,846,116 (GRCm39)	I281L	probably damaging	Het
Or7e168	G	T	9: 19,719,839 (GRCm39)	S75I	probably damaging	Het
Pcare	G	T	17: 72,057,471 (GRCm39)	F735L	probably damaging	Het
Pdzrn4	A	G	15: 92,655,538 (GRCm39)	E477G	possibly damaging	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rims2	G	T	15: 39,326,011 (GRCm39)		probably null	Het
Samd4b	C	T	7: 28,122,873 (GRCm39)	A62T	probably damaging	Het
Scamp1	T	C	13: 94,347,088 (GRCm39)	N192S	probably benign	Het
Scnn1g	T	C	7: 121,345,802 (GRCm39)		probably benign	Het
Setd1a	T	G	7: 127,387,358 (GRCm39)		probably benign	Het
Setdb1	A	G	3: 95,257,192 (GRCm39)		probably benign	Het
Slc2a7	T	C	4: 150,250,823 (GRCm39)	S415P	probably benign	Het
Sp140l2	G	T	1: 85,247,824 (GRCm39)		probably benign	Het
Strip2	A	T	6: 29,937,650 (GRCm39)	Y526F	possibly damaging	Het
Styxl2	T	A	1: 165,928,332 (GRCm39)	T427S	probably benign	Het
Syne2	A	G	12: 75,926,951 (GRCm39)	D69G	probably damaging	Het
Syt13	C	A	2: 92,745,596 (GRCm39)	A22E	probably benign	Het
Vmn2r49	A	T	7: 9,710,357 (GRCm39)	W792R	probably damaging	Het
Zfp292	T	C	4: 34,808,227 (GRCm39)	S1606G	probably benign	Het
Zfp518a	A	T	19: 40,900,665 (GRCm39)	H198L	probably damaging	Het

Other mutations in Tm9sf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Tm9sf2	APN	14	122,380,872 (GRCm39)	missense	probably damaging	1.00
IGL01995:Tm9sf2	APN	14	122,380,883 (GRCm39)	missense	probably benign	0.25
IGL02173:Tm9sf2	APN	14	122,380,835 (GRCm39)	missense	probably benign	0.13
IGL02249:Tm9sf2	APN	14	122,361,162 (GRCm39)	missense	probably damaging	1.00
IGL02328:Tm9sf2	APN	14	122,380,842 (GRCm39)	missense	possibly damaging	0.79
IGL03231:Tm9sf2	APN	14	122,378,664 (GRCm39)	missense	possibly damaging	0.95
R1959:Tm9sf2	UTSW	14	122,363,576 (GRCm39)	missense	probably benign	0.42
R2251:Tm9sf2	UTSW	14	122,377,143 (GRCm39)	missense	probably benign
R2504:Tm9sf2	UTSW	14	122,396,096 (GRCm39)	missense	probably benign	0.01
R4791:Tm9sf2	UTSW	14	122,377,062 (GRCm39)	missense	probably benign	0.00
R4795:Tm9sf2	UTSW	14	122,387,252 (GRCm39)	splice site	probably null
R4851:Tm9sf2	UTSW	14	122,378,616 (GRCm39)	missense	probably benign	0.00
R5063:Tm9sf2	UTSW	14	122,382,558 (GRCm39)	missense	probably damaging	1.00
R5117:Tm9sf2	UTSW	14	122,380,913 (GRCm39)	missense	probably benign	0.30
R5443:Tm9sf2	UTSW	14	122,363,607 (GRCm39)	missense	probably damaging	0.97
R5677:Tm9sf2	UTSW	14	122,389,374 (GRCm39)	critical splice acceptor site	probably null
R5966:Tm9sf2	UTSW	14	122,374,921 (GRCm39)	intron	probably benign
R6465:Tm9sf2	UTSW	14	122,378,619 (GRCm39)	missense	probably benign	0.16
R6873:Tm9sf2	UTSW	14	122,382,525 (GRCm39)	missense	probably damaging	1.00
R7403:Tm9sf2	UTSW	14	122,378,640 (GRCm39)	missense	probably benign	0.33
R7531:Tm9sf2	UTSW	14	122,379,824 (GRCm39)	missense	possibly damaging	0.49
R8176:Tm9sf2	UTSW	14	122,374,913 (GRCm39)	missense	probably benign	0.01
R8447:Tm9sf2	UTSW	14	122,377,180 (GRCm39)	missense	probably damaging	1.00
R8773:Tm9sf2	UTSW	14	122,380,883 (GRCm39)	missense	probably benign	0.21
R9039:Tm9sf2	UTSW	14	122,363,576 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- GCACCTTTAATGAAGTGGGAAATGCAG -3'
(R):5'- CATAACAAATAATGCTGAGCTGGGCTG -3'

Sequencing Primer
(F):5'- GTGGGAAATGCAGCGTTC -3'
(R):5'- CTGGGCTGATGATTCCATAAAG -3'

Posted On

2013-04-24