Mutagenetix > Incidental Mutations

Incidental Mutation 'R9039:Tm9sf2'

687632

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf2

Ensembl Gene

ENSMUSG00000025544

Gene Name

transmembrane 9 superfamily member 2

Synonyms

D14Ertd64e, P76, 1500001N15Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.896) question?

Stock #

R9039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122107038-122159604 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122126164 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 99 (L99I)

Ref Sequence

ENSEMBL: ENSMUSP00000026624 (fasta)

Gene Model

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

AlphaFold

P58021

Predicted Effect

probably benign
Transcript: ENSMUST00000026624
AA Change: L99I

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026624
Gene: ENSMUSG00000025544
AA Change: L99I

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

noncoding transcript
Transcript: ENSMUST00000166043

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
AA Change: L99I

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131227
Gene: ENSMUSG00000025544
AA Change: L99I

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,167,075	V692A	possibly damaging	Het
Adcy10	T	C	1: 165,518,345	I321T	probably damaging	Het
Agbl2	C	T	2: 90,815,386	T821I	probably benign	Het
Alpk1	A	G	3: 127,679,543	L937P	probably damaging	Het
Atp5b	A	G	10: 128,083,898	D45G	probably benign	Het
C8a	C	T	4: 104,822,003	R530H	probably benign	Het
Cacna1s	T	C	1: 136,088,319	S694P	probably benign	Het
Cdca7	T	A	2: 72,482,512	D162E	probably benign	Het
Cep78	G	T	19: 15,959,543	Q600K	probably benign	Het
Col4a3bp	C	T	13: 96,543,209	P16S	probably benign	Het
Coq8b	A	C	7: 27,250,586	R363S	probably benign	Het
Cpne3	A	T	4: 19,540,770	C202S	probably damaging	Het
Cyp4a14	A	T	4: 115,487,264	V468E	probably damaging	Het
Dchs1	A	T	7: 105,756,008	D2442E	probably benign	Het
Dip2a	T	C	10: 76,327,719	Y49C	probably benign	Het
Dopey1	A	G	9: 86,500,817	R268G	probably damaging	Het
Eid3	C	T	10: 82,867,731	S342L	possibly damaging	Het
Ezh2	A	G	6: 47,551,737	L296P	possibly damaging	Het
Fgfrl1	G	C	5: 108,705,573		probably null	Het
Flg2	A	G	3: 93,203,592	R976G	unknown	Het
Fsip2	C	A	2: 82,998,201	Q6781K	probably benign	Het
Gm7534	C	A	4: 134,195,547	V492F	probably damaging	Het
Golga3	C	T	5: 110,204,933	H857Y	probably benign	Het
Hmcn2	T	A	2: 31,354,634	V701E	probably damaging	Het
Il21	A	T	3: 37,232,453	I38N	probably benign	Het
Ip6k2	G	T	9: 108,804,608	G246V	probably damaging	Het
Ipo13	T	C	4: 117,900,988	Q726R	probably damaging	Het
Itsn1	A	T	16: 91,906,770	N1521Y	unknown	Het
Kif2b	A	G	11: 91,576,305	V384A	possibly damaging	Het
L3mbtl1	G	T	2: 162,966,068	R541L	probably damaging	Het
Lama3	T	A	18: 12,481,063	C1296*	probably null	Het
Lars	T	C	18: 42,257,169	D11G	probably damaging	Het
Ly6c1	C	A	15: 75,045,451	G116V	probably damaging	Het
Mmp27	C	A	9: 7,581,249	F478L	probably benign	Het
Nav1	T	A	1: 135,443,749	Q1746L	unknown	Het
Nedd9	T	C	13: 41,318,508	Y165C	probably damaging	Het
Neurod1	T	C	2: 79,454,376	Y221C	probably damaging	Het
Olfr1040	T	C	2: 86,146,281	Y151C	probably damaging	Het
Olfr1154	T	C	2: 87,903,563	T38A	probably damaging	Het
Olfr1228	G	T	2: 89,249,201	F152L	probably benign	Het
Olfr450	A	T	6: 42,817,611	I47F	probably damaging	Het
Orm3	A	G	4: 63,356,296	N33D	possibly damaging	Het
Ppp1r3a	G	A	6: 14,754,526	P241S	probably damaging	Het
Prdx6	A	T	1: 161,251,049	I23N	probably damaging	Het
Prkd3	A	T	17: 78,972,574	V334E	probably benign	Het
Prr12	A	T	7: 45,034,722	D1631E	probably damaging	Het
Pum2	T	G	12: 8,744,430	D773E	probably damaging	Het
Sidt2	A	G	9: 45,945,350	C451R	probably benign	Het
Slc37a2	A	G	9: 37,237,362	S275P	probably benign	Het
Slmap	G	T	14: 26,533,364	N54K	probably benign	Het
Susd4	A	G	1: 182,854,032	D146G	probably benign	Het
Tekt3	G	A	11: 63,081,343	R275H	possibly damaging	Het
Tkfc	A	G	19: 10,596,248	L242P	probably damaging	Het
Triqk	A	T	4: 12,980,490	D78V	probably damaging	Het
Trmo	T	C	4: 46,382,322	D258G	probably benign	Het
Tsc2	A	G	17: 24,607,515	V920A	probably benign	Het
Tspan17	C	T	13: 54,796,178	Q257*	probably null	Het
Tube1	T	A	10: 39,135,021	F45I	probably damaging	Het
Vmn1r4	A	G	6: 56,956,837	T109A	possibly damaging	Het
Vmn2r14	A	T	5: 109,220,036	Y363*	probably null	Het
Zfp324	G	T	7: 12,971,528	G548V	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
R8773:Tm9sf2	UTSW	14	122143471	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- GCCTGAGACTTAAACGTAAGC -3'
(R):5'- AAGGGTCTTTCTAAACCAAGGC -3'

Sequencing Primer
(F):5'- GCACATTCCTCATTTAAAGAGCTC -3'
(R):5'- GGTCCAGGATTTGATTCCCAGAAC -3'

Posted On

2021-11-19