Mutagenetix > Incidental Mutations

Incidental Mutation 'R8773:Tm9sf2'

664562

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf2

Ensembl Gene

ENSMUSG00000025544

Gene Name

transmembrane 9 superfamily member 2

Synonyms

D14Ertd64e, P76, 1500001N15Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.896) question?

Stock #

R8773 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122107038-122159604 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122143471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 324 (T324A)

Ref Sequence

ENSEMBL: ENSMUSP00000026624 (fasta)

Gene Model

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

AlphaFold

P58021

Predicted Effect

probably benign
Transcript: ENSMUST00000026624
AA Change: T324A

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026624
Gene: ENSMUSG00000025544
AA Change: T324A

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: T159A

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131227
Gene: ENSMUSG00000025544
AA Change: T159A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (63/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	T	2: 151,472,142	S539T	possibly damaging	Het
Abcc6	C	T	7: 45,985,145	R1136Q	probably benign	Het
Abhd12b	A	C	12: 70,166,934		probably null	Het
Agk	T	G	6: 40,357,116	V98G	possibly damaging	Het
Apbb2	A	G	5: 66,451,909	S132P	probably damaging	Het
Apc2	T	C	10: 80,306,212	S322P	probably damaging	Het
Armc3	T	C	2: 19,288,856	V486A	probably benign	Het
Asxl2	A	G	12: 3,457,200	K131E	probably damaging	Het
Atp13a4	A	G	16: 29,441,580	V560A		Het
Bnc1	C	T	7: 81,973,971	G503S	probably damaging	Het
Bsn	C	A	9: 108,110,505	V2683F	unknown	Het
Btbd7	A	T	12: 102,837,982	N266K	probably benign	Het
Cdca7l	G	A	12: 117,875,611	D350N	possibly damaging	Het
Col6a3	T	A	1: 90,768,449	D3239V	unknown	Het
Col9a1	T	A	1: 24,185,127	I130N	unknown	Het
Cr2	A	G	1: 195,158,605	W460R	probably damaging	Het
Cyb561d2	A	G	9: 107,540,384	F56S	probably damaging	Het
Dnaaf1	A	G	8: 119,575,455	I32V	probably benign	Het
Dnah11	T	A	12: 117,995,215	T2978S	possibly damaging	Het
Dsg2	T	A	18: 20,582,999	D302E	probably damaging	Het
Faf1	T	A	4: 109,842,310	F351I	possibly damaging	Het
Fam96a	A	T	9: 66,138,385	N145I	probably damaging	Het
Gimap8	C	A	6: 48,656,611	Q455K	probably benign	Het
Gm6588	T	C	5: 112,449,815	V76A	probably benign	Het
Hps6	C	G	19: 46,005,702	R693G	possibly damaging	Het
Irx1	C	T	13: 71,959,516	G349D	probably damaging	Het
Itga8	C	G	2: 12,182,684	G728A	probably damaging	Het
Lcat	T	C	8: 105,940,078	T271A	possibly damaging	Het
Mapkapk2	T	C	1: 131,055,942	H308R	probably damaging	Het
Mast1	A	T	8: 84,916,324	N947K	probably damaging	Het
Mkl1	T	C	15: 81,018,073	S349G	possibly damaging	Het
Mpeg1	A	T	19: 12,463,055	I626F	probably damaging	Het
Myh15	T	C	16: 49,195,537	S1859P	possibly damaging	Het
Nlrx1	A	T	9: 44,256,415	D728E	probably benign	Het
Olfr335-ps	A	G	2: 36,302,375	T279A	probably benign	Het
Olfr897-ps1	G	T	9: 38,309,220	V142F	probably benign	Het
Pcdhb18	A	T	18: 37,491,509	S631C	probably damaging	Het
Pcdhga11	C	A	18: 37,757,311	Y457*	probably null	Het
Pcdhga5	T	C	18: 37,696,770	I757T	probably benign	Het
Pcgf5	G	A	19: 36,411,948		probably benign	Het
Pdf	A	G	8: 107,048,468	V44A	possibly damaging	Het
Prtg	A	T	9: 72,912,301	*1192L	probably null	Het
Ptk7	A	G	17: 46,566,267	F955S	possibly damaging	Het
Rbp3	C	A	14: 33,962,535	Q1174K	possibly damaging	Het
Rufy1	T	C	11: 50,430,969	D46G	possibly damaging	Het
Sbf2	A	G	7: 110,348,995	V1216A	probably benign	Het
Serpina11	A	G	12: 103,986,463	V18A	unknown	Het
Serpinb6a	T	A	13: 33,931,560	N47I	probably damaging	Het
Shc2	T	C	10: 79,621,090	H564R	probably damaging	Het
Sirt7	T	A	11: 120,624,062	R115*	probably null	Het
Slc22a14	A	T	9: 119,230,224		probably benign	Het
Stra8	T	A	6: 34,935,646	S331T	probably damaging	Het
Tmem268	T	C	4: 63,580,293	S224P	probably benign	Het
Tmem55b	T	C	14: 50,929,046	T194A	possibly damaging	Het
Tns1	T	C	1: 73,937,248	D1147G	probably damaging	Het
Tomm22	C	T	15: 79,671,110		probably benign	Het
Top1	A	G	2: 160,714,238	Y539C	probably damaging	Het
Tpp2	T	A	1: 43,970,392		probably benign	Het
Trav3-1	T	C	14: 52,580,971	V34A	probably damaging	Het
Tspyl5	T	C	15: 33,687,092	N236D	possibly damaging	Het
Ttc41	A	G	10: 86,729,815	D411G	probably benign	Het
Vmn1r128	A	T	7: 21,349,997	M209L	probably benign	Het
Wdr66	A	G	5: 123,273,850	D515G	probably benign	Het
Xirp2	T	A	2: 67,525,183	D3429E	probably benign	Het
Zfp418	A	T	7: 7,182,798	T587S	probably benign	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
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
R9039:Tm9sf2	UTSW	14	122126164	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- ACTAGTGTTCCTGAGTGCCG -3'
(R):5'- AGATCAATTTGGGGCCAAGTG -3'

Sequencing Primer
(F):5'- CCTGAGTGCCGGGGTTAGAG -3'
(R):5'- GCCAAGTGGTTTTGTTCATGAC -3'

Posted On

2021-03-08