Mutagenetix > Incidental Mutations

Incidental Mutation 'R5966:Tm9sf2'

472437

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf2

Ensembl Gene

ENSMUSG00000025544

Gene Name

transmembrane 9 superfamily member 2

Synonyms

D14Ertd64e, P76, 1500001N15Rik

MMRRC Submission

044151-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.896) question?

Stock #

R5966 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122107038-122159604 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 122137509 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026624] [ENSMUST00000170007] [ENSMUST00000171318]

AlphaFold

P58021

Predicted Effect

probably benign
Transcript: ENSMUST00000026624

SMART Domains

Protein: ENSMUSP00000026624
Gene: ENSMUSG00000025544

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: ENSMUST00000170007

SMART Domains

Protein: ENSMUSP00000128894
Gene: ENSMUSG00000025544

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171318

SMART Domains

Protein: ENSMUSP00000131227
Gene: ENSMUSG00000025544

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

94% (79/84)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	A	G	5: 90,571,687	Y214C	probably damaging	Het
A930009A15Rik	A	T	10: 115,579,812		probably benign	Het
Acaa2	T	C	18: 74,804,152	L369S	probably damaging	Het
Akna	A	G	4: 63,394,903	S328P	probably damaging	Het
Apc	A	G	18: 34,221,087		probably benign	Het
Brca2	C	T	5: 150,543,251	T2160I	probably damaging	Het
Camsap2	A	G	1: 136,276,592	S1251P	probably damaging	Het
Ccdc110	A	G	8: 45,942,536	E488G	probably damaging	Het
Ccdc158	T	A	5: 92,650,049	I411F	probably damaging	Het
Cd163	C	T	6: 124,320,636	Q914*	probably null	Het
Cd22	T	C	7: 30,866,658	D827G	probably damaging	Het
Ces1e	A	G	8: 93,219,373		probably null	Het
Col14a1	T	C	15: 55,452,383		probably null	Het
Csmd3	T	A	15: 47,849,739	D1509V	probably damaging	Het
Ddx51	A	G	5: 110,656,851	D543G	probably damaging	Het
Diaph3	T	A	14: 86,984,825	I408F	probably damaging	Het
Dld	G	A	12: 31,340,326	P213L	probably damaging	Het
Dnah6	T	C	6: 73,060,279	T3327A	probably benign	Het
Dnttip2	T	A	3: 122,285,168		probably benign	Het
Dock10	T	C	1: 80,568,508	E791G	possibly damaging	Het
Ehd3	G	T	17: 73,827,361	W238C	probably damaging	Het
Ehd3	T	G	17: 73,827,366	L240R	probably damaging	Het
Ep400	A	G	5: 110,676,900	V2357A	unknown	Het
Fam20c	T	C	5: 138,756,177	V181A	probably damaging	Het
Gm4781	T	C	10: 100,396,952		noncoding transcript	Het
Gpatch8	A	T	11: 102,480,232	S827T	unknown	Het
Grm3	A	T	5: 9,511,930	I640N	probably damaging	Het
Gstm7	A	G	3: 107,931,431		probably benign	Het
Hdac7	G	T	15: 97,802,491	H572Q	probably damaging	Het
Ift140	C	T	17: 25,094,761	Q1389*	probably null	Het
Igfn1	A	G	1: 135,965,414	V2099A	probably damaging	Het
Ik	A	G	18: 36,755,478	N443S	possibly damaging	Het
Impact	A	G	18: 12,990,544	K315E	probably benign	Het
Insr	C	A	8: 3,258,697	R113L	probably benign	Het
Jak2	T	A	19: 29,283,554	Y317N	possibly damaging	Het
Kif18a	T	A	2: 109,292,066	V162E	probably damaging	Het
L3mbtl3	A	G	10: 26,331,864	V319A	unknown	Het
Lepr	T	C	4: 101,792,127		probably benign	Het
Lmo7	C	T	14: 101,900,502	T647I	possibly damaging	Het
Mindy3	C	T	2: 12,401,043	R147Q	probably benign	Het
Mtr	T	C	13: 12,215,567		probably null	Het
Muc4	A	T	16: 32,756,278		probably benign	Het
Nrip1	G	A	16: 76,293,583	T362M	possibly damaging	Het
Olfr1175-ps	A	G	2: 88,322,878	S276P	probably benign	Het
Olfr346	G	T	2: 36,688,062	R20L	probably null	Het
Olfr357	T	C	2: 36,996,945	I45T	possibly damaging	Het
Ovol1	G	A	19: 5,551,602	R131C	probably damaging	Het
Pcca	T	C	14: 122,668,586	V323A	probably damaging	Het
Pcdhb14	A	T	18: 37,448,242	M134L	probably benign	Het
Pecam1	G	A	11: 106,691,061	T252M	probably benign	Het
Rnd3	T	A	2: 51,132,524	I169F	probably damaging	Het
Rnmt	T	A	18: 68,311,618	D219E	probably benign	Het
Rufy1	A	T	11: 50,401,488	F491L	probably benign	Het
Ryr2	G	T	13: 11,662,238	C3242*	probably null	Het
Smurf2	G	T	11: 106,875,901	R31S	possibly damaging	Het
Sptbn1	A	G	11: 30,124,873	I1333T	probably damaging	Het
Stard9	G	A	2: 120,697,099	C1279Y	probably damaging	Het
Sugp2	T	C	8: 70,252,103		probably null	Het
Sulf1	A	T	1: 12,859,412	D301V	probably benign	Het
Tbcd	G	T	11: 121,601,911		probably benign	Het
Tlr11	T	C	14: 50,362,255	I566T	probably benign	Het
Tnfaip8l1	T	C	17: 56,171,799	F30L	probably benign	Het
Trav15-2-dv6-2	T	A	14: 53,649,976	C118S	probably damaging	Het
Ttc13	A	G	8: 124,682,220		probably benign	Het
Ubqln3	A	T	7: 104,141,699	S395T	probably benign	Het
Urb2	A	G	8: 124,028,088	D178G	probably benign	Het
Usf3	A	G	16: 44,220,859	I1901V	probably benign	Het
Vmn1r173	A	T	7: 23,702,687	I116F	probably benign	Het
Vmn1r69	T	A	7: 10,580,790	T5S	probably benign	Het
Wbp1l	C	T	19: 46,654,180	R191*	probably null	Het
Wfikkn2	C	T	11: 94,238,862	R151H	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
R0367:Tm9sf2	UTSW	14	122155368	missense	probably benign	0.06
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
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'- TTGTGCACTCGGATCACTG -3'
(R):5'- TGTAGCCTTTGACTTAGAACAAAGG -3'

Sequencing Primer
(F):5'- TGCACTCGGATCACTGACCTG -3'
(R):5'- CCTTTGACTTAGAACAAAGGCTTAGC -3'

Posted On

2017-04-03