Mutagenetix > Incidental Mutations

Incidental Mutation 'R0367:Tm9sf2'

30292

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf2

Ensembl Gene

ENSMUSG00000025544

Gene Name

transmembrane 9 superfamily member 2

Synonyms

D14Ertd64e, P76, 1500001N15Rik

MMRRC Submission

038573-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.896) question?

Stock #

R0367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122107038-122159604 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122155368 bp (GRCm38)

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: 76,902,114	S12P	probably damaging	Het
Alx4	T	A	2: 93,668,608	D228E	probably damaging	Het
Antxr2	T	C	5: 98,029,596	E71G	probably benign	Het
Arhgap19	C	A	19: 41,801,978	G17V	probably benign	Het
BC027072	G	T	17: 71,750,476	F735L	probably damaging	Het
C130026I21Rik	G	T	1: 85,270,103		probably benign	Het
C8a	A	C	4: 104,862,594		probably null	Het
Ccne2	T	A	4: 11,201,426		probably benign	Het
Cdc42bpg	G	A	19: 6,311,395	C317Y	probably damaging	Het
Cend1	C	A	7: 141,427,895	R4L	probably damaging	Het
Cfap44	T	C	16: 44,433,476		probably null	Het
Cpt1c	T	C	7: 44,959,575	N774S	probably benign	Het
Csmd1	C	T	8: 15,917,270	D3198N	probably damaging	Het
Dapk2	C	T	9: 66,268,886	S323F	probably damaging	Het
Ddx60	T	G	8: 62,017,749	I1425R	possibly damaging	Het
Dusp27	T	A	1: 166,100,763	T427S	probably benign	Het
Edem1	T	A	6: 108,846,752	Y370N	probably damaging	Het
Elp5	A	G	11: 69,975,141	V103A	probably benign	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
Fat1	A	G	8: 45,024,313	D2132G	probably damaging	Het
Fat2	A	T	11: 55,292,093		probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gp2	C	T	7: 119,454,568	D57N	probably damaging	Het
Gpr161	T	C	1: 165,317,236		probably benign	Het
Gstcd	G	A	3: 132,986,377		probably benign	Het
Hipk3	A	T	2: 104,431,249	C980*	probably null	Het
Htr2a	A	T	14: 74,642,209	I93L	probably damaging	Het
Itpr2	T	G	6: 146,234,008	K1775N	probably damaging	Het
Kcnt1	G	A	2: 25,907,628	V864I	probably damaging	Het
Kcnt2	A	T	1: 140,351,225	Y38F	probably damaging	Het
Limch1	G	A	5: 66,857,954		probably null	Het
Lmtk2	C	T	5: 144,174,285	R608C	possibly damaging	Het
Loxhd1	C	T	18: 77,425,757		probably benign	Het
Lpin2	A	T	17: 71,215,022	E17V	probably damaging	Het
Lrrc34	A	T	3: 30,629,993	F342I	probably benign	Het
Lyzl6	A	G	11: 103,636,752		probably null	Het
Map3k4	A	C	17: 12,258,041		probably benign	Het
Mocs3	C	T	2: 168,231,682	P350S	probably benign	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Olfr1263	A	C	2: 90,015,772	I281L	probably damaging	Het
Olfr51	A	G	11: 51,007,077	Y35C	probably damaging	Het
Olfr859	G	T	9: 19,808,543	S75I	probably damaging	Het
Pdzrn4	A	G	15: 92,757,657	E477G	possibly damaging	Het
Rab5b	C	T	10: 128,682,903	R120Q	probably benign	Het
Rims2	G	T	15: 39,462,615		probably null	Het
Samd4b	C	T	7: 28,423,448	A62T	probably damaging	Het
Scamp1	T	C	13: 94,210,580	N192S	probably benign	Het
Scnn1g	T	C	7: 121,746,579		probably benign	Het
Setd1a	T	G	7: 127,788,186		probably benign	Het
Setdb1	A	G	3: 95,349,881		probably benign	Het
Slc2a7	T	C	4: 150,166,366	S415P	probably benign	Het
Strip2	A	T	6: 29,937,651	Y526F	possibly damaging	Het
Syne2	A	G	12: 75,880,177	D69G	probably damaging	Het
Syt13	C	A	2: 92,915,251	A22E	probably benign	Het
Vmn2r49	A	T	7: 9,976,430	W792R	probably damaging	Het
Zfp292	T	C	4: 34,808,227	S1606G	probably benign	Het
Zfp518a	A	T	19: 40,912,221	H198L	probably damaging	Het

Other mutations in Tm9sf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Tm9sf2	APN	14	122143460	missense	probably damaging	1.00
IGL01995:Tm9sf2	APN	14	122143471	missense	probably benign	0.25
IGL02173:Tm9sf2	APN	14	122143423	missense	probably benign	0.13
IGL02249:Tm9sf2	APN	14	122123750	missense	probably damaging	1.00
IGL02328:Tm9sf2	APN	14	122143430	missense	possibly damaging	0.79
IGL03231:Tm9sf2	APN	14	122141252	missense	possibly damaging	0.95
R1959:Tm9sf2	UTSW	14	122126164	missense	probably benign	0.42
R2251:Tm9sf2	UTSW	14	122139731	missense	probably benign
R2504:Tm9sf2	UTSW	14	122158684	missense	probably benign	0.01
R4791:Tm9sf2	UTSW	14	122139650	missense	probably benign	0.00
R4795:Tm9sf2	UTSW	14	122149840	splice site	probably null
R4851:Tm9sf2	UTSW	14	122141204	missense	probably benign	0.00
R5063:Tm9sf2	UTSW	14	122145146	missense	probably damaging	1.00
R5117:Tm9sf2	UTSW	14	122143501	missense	probably benign	0.30
R5443:Tm9sf2	UTSW	14	122126195	missense	probably damaging	0.97
R5677:Tm9sf2	UTSW	14	122151962	critical splice acceptor site	probably null
R5966:Tm9sf2	UTSW	14	122137509	intron	probably benign
R6465:Tm9sf2	UTSW	14	122141207	missense	probably benign	0.16
R6873:Tm9sf2	UTSW	14	122145113	missense	probably damaging	1.00
R7403:Tm9sf2	UTSW	14	122141228	missense	probably benign	0.33
R7531:Tm9sf2	UTSW	14	122142412	missense	possibly damaging	0.49
R8176:Tm9sf2	UTSW	14	122137501	missense	probably benign	0.01
R8447:Tm9sf2	UTSW	14	122139768	missense	probably damaging	1.00
R8773:Tm9sf2	UTSW	14	122143471	missense	probably benign	0.21
R9039:Tm9sf2	UTSW	14	122126164	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