Mutagenetix > Incidental Mutation

Incidental Mutation 'R2251:Tm9sf2'

241699

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf2

Ensembl Gene

ENSMUSG00000025544

Gene Name

transmembrane 9 superfamily member 2

Synonyms

1500001N15Rik, P76, D14Ertd64e

MMRRC Submission

040251-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.881) question?

Stock #

R2251 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122344450-122397016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122377143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 224 (S224T)

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: S224T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026624
Gene: ENSMUSG00000025544
AA Change: S224T

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,380,061 (GRCm39)	S79F	probably damaging	Het
Abl1	T	A	2: 31,669,131 (GRCm39)	V170E	probably damaging	Het
Akap13	C	T	7: 75,389,225 (GRCm39)	T2381M	possibly damaging	Het
Armc8	T	A	9: 99,384,653 (GRCm39)		probably null	Het
B3gnt3	A	T	8: 72,145,462 (GRCm39)	M302K	probably damaging	Het
Casp3	G	T	8: 47,090,990 (GRCm39)	W214L	probably damaging	Het
Cnot1	A	G	8: 96,489,814 (GRCm39)	V463A	probably benign	Het
Cntn2	T	C	1: 132,453,059 (GRCm39)	E411G	probably damaging	Het
Dgkg	A	T	16: 22,441,010 (GRCm39)	M1K	probably null	Het
Faap20	A	C	4: 155,335,010 (GRCm39)	E37A	possibly damaging	Het
Fam186a	T	C	15: 99,842,978 (GRCm39)	T1089A	probably benign	Het
Fgb	T	G	3: 82,950,591 (GRCm39)	T388P	probably damaging	Het
Fndc1	G	A	17: 7,972,439 (GRCm39)	R1498W	probably damaging	Het
Gch1	T	C	14: 47,426,798 (GRCm39)		probably benign	Het
Gzf1	T	C	2: 148,525,856 (GRCm39)	M109T	probably damaging	Het
H2-M10.1	A	C	17: 36,636,498 (GRCm39)	L102R	probably damaging	Het
Kpna1	T	C	16: 35,841,939 (GRCm39)	Y280H	possibly damaging	Het
Mbtps2	A	T	X: 156,342,029 (GRCm39)	F270L	probably benign	Het
Mrpl40	T	C	16: 18,694,125 (GRCm39)	H29R	probably benign	Het
N4bp2	G	A	5: 65,964,071 (GRCm39)	V707I	probably damaging	Het
Nav2	A	G	7: 49,103,025 (GRCm39)	K608E	probably damaging	Het
Nfix	T	C	8: 85,442,799 (GRCm39)	D458G	probably benign	Het
Ngdn	T	C	14: 55,260,852 (GRCm39)		probably null	Het
Nr3c1	G	T	18: 39,619,804 (GRCm39)	T161K	probably benign	Het
Or2n1e	C	T	17: 38,585,794 (GRCm39)	A44V	probably benign	Het
Or4g16	A	G	2: 111,136,655 (GRCm39)	Y35C	probably damaging	Het
Or52e15	A	T	7: 104,645,802 (GRCm39)	M103K	probably damaging	Het
Or5ak20	A	G	2: 85,184,202 (GRCm39)	S23P	possibly damaging	Het
Pbld2	G	T	10: 62,860,384 (GRCm39)		probably benign	Het
Pkd1l2	T	C	8: 117,784,177 (GRCm39)	Y700C	probably damaging	Het
Plcb2	T	C	2: 118,554,246 (GRCm39)	N69S	probably benign	Het
Pwp2	T	A	10: 78,016,922 (GRCm39)	Q266L	probably benign	Het
Rnf133	T	C	6: 23,649,174 (GRCm39)	M252V	probably benign	Het
Scn8a	A	G	15: 100,914,987 (GRCm39)	I1184V	probably benign	Het
Slc7a2	T	C	8: 41,358,658 (GRCm39)	Y334H	probably benign	Het
Smim11	T	C	16: 92,107,716 (GRCm39)	Y14H	probably benign	Het
Spata17	A	T	1: 186,780,670 (GRCm39)	L359Q	possibly damaging	Het
Spn	T	C	7: 126,736,331 (GRCm39)	K59E	probably benign	Het
Tap2	A	G	17: 34,430,928 (GRCm39)	S343G	probably damaging	Het
Tcp11l2	T	C	10: 84,440,933 (GRCm39)		probably null	Het
Tlr11	T	A	14: 50,598,249 (GRCm39)	N78K	probably benign	Het
Trpm1	G	A	7: 63,859,724 (GRCm39)	G261D	probably damaging	Het
Tut4	T	A	4: 108,377,405 (GRCm39)	D938E	probably damaging	Het
Usp3	T	C	9: 66,469,860 (GRCm39)	D87G	probably damaging	Het
Vmn1r189	T	C	13: 22,286,718 (GRCm39)	K40E	probably damaging	Het
Vps45	A	T	3: 95,964,352 (GRCm39)	D56E	probably benign	Het
Vstm2a	C	A	11: 16,318,273 (GRCm39)	Q231K	probably benign	Het
Zfp575	A	T	7: 24,285,015 (GRCm39)	C209S	probably damaging	Het
Zfp768	T	C	7: 126,943,550 (GRCm39)	T193A	probably benign	Het
Zfp867	T	A	11: 59,356,319 (GRCm39)	R38*	probably null	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
R0367:Tm9sf2	UTSW	14	122,392,780 (GRCm39)	missense	probably benign	0.06
R1959:Tm9sf2	UTSW	14	122,363,576 (GRCm39)	missense	probably benign	0.42
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'- GGACCTCTACCTTAAAACTTAGCATTG -3'
(R):5'- AAATACACTTCCCCTTTGGACC -3'

Sequencing Primer
(F):5'- CCTTAAAACTTAGCATTGTAATGGGG -3'
(R):5'- ACATAATCTCACTCTTTGGGGCAGG -3'

Posted On

2014-10-16