Mutagenetix > Incidental Mutations

Incidental Mutation 'R4851:Tm9sf2'

373577

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf2

Ensembl Gene

ENSMUSG00000025544

Gene Name

transmembrane 9 superfamily member 2

Synonyms

D14Ertd64e, P76, 1500001N15Rik

MMRRC Submission

042463-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.824) question?

Stock #

R4851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122107038-122159604 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122141204 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 240 (K240R)

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: K240R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026624
Gene: ENSMUSG00000025544
AA Change: K240R

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

0.0777

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (99/99)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451G09Rik	A	G	16: 4,976,274		noncoding transcript	Het
Abca13	A	T	11: 9,483,890	R4148S	probably benign	Het
Acoxl	T	A	2: 128,044,391	L182Q	possibly damaging	Het
Aldh7a1	T	C	18: 56,532,016	T364A	possibly damaging	Het
App	T	C	16: 85,056,434	D252G	unknown	Het
Arid1a	A	G	4: 133,681,361	I1945T	unknown	Het
Arsk	C	T	13: 76,065,279		probably null	Het
Atad2b	G	A	12: 4,943,251	G257S	probably benign	Het
Best1	C	A	19: 9,991,698	R218L	probably damaging	Het
Cacna1e	A	T	1: 154,436,554		probably null	Het
Cdh13	C	T	8: 118,757,390	T130I	possibly damaging	Het
Cela2a	T	C	4: 141,825,591	E25G	probably benign	Het
Cgnl1	T	A	9: 71,725,032	I346F	probably damaging	Het
Chil6	C	T	3: 106,389,928	G299D	possibly damaging	Het
Cic	G	A	7: 25,272,902	R686H	probably damaging	Het
Cnpy1	T	C	5: 28,245,740	I23V	probably benign	Het
Col6a3	T	A	1: 90,779,289	Y2034F	unknown	Het
Coq10b	T	C	1: 55,071,744	Y224H	probably benign	Het
Cryge	G	T	1: 65,051,052		probably benign	Het
Cyb5rl	T	G	4: 107,084,313	S252A	probably benign	Het
Cyp2ab1	T	A	16: 20,315,064	R125S	probably damaging	Het
Dclk1	G	A	3: 55,480,390	G86R	probably damaging	Het
Dmtn	A	G	14: 70,604,814	M382T	probably damaging	Het
Dnah12	T	A	14: 26,716,629	L471*	probably null	Het
Dock10	A	T	1: 80,549,157	S782T	probably benign	Het
Egfem1	C	A	3: 29,151,883	H90N	possibly damaging	Het
Ephb6	T	A	6: 41,618,145	W698R	probably benign	Het
Exoc4	T	A	6: 33,918,408	C787S	probably damaging	Het
Exosc8	A	T	3: 54,732,102		probably benign	Het
Galc	T	A	12: 98,227,274	Q352L	probably benign	Het
Galns	A	G	8: 122,600,533	Y167H	probably damaging	Het
Glb1l	T	C	1: 75,208,884		probably benign	Het
Gm6185	A	T	1: 161,206,180		noncoding transcript	Het
Gm7694	T	C	1: 170,301,225	N245S	probably benign	Het
Gmcl1	T	G	6: 86,704,556	K385N	possibly damaging	Het
Gramd1c	A	T	16: 43,989,837	W463R	probably damaging	Het
Gtpbp8	C	G	16: 44,746,070	A90P	probably benign	Het
Hcar1	T	C	5: 123,878,668	E320G	probably benign	Het
Hhatl	T	C	9: 121,789,011	D226G	probably damaging	Het
Hist1h2bj	G	T	13: 22,043,251		probably benign	Het
Hoxc5	T	A	15: 103,015,369	I199N	probably damaging	Het
Iars2	T	C	1: 185,327,648	D121G	probably damaging	Het
Il5ra	T	A	6: 106,738,471	H134L	probably benign	Het
Isl2	T	A	9: 55,544,987	I281N	possibly damaging	Het
Kcnk13	T	C	12: 99,966,124	F60L	probably damaging	Het
Kdelr3	C	T	15: 79,524,865	T85M	possibly damaging	Het
Kdf1	A	T	4: 133,528,365	H131L	probably damaging	Het
Mipol1	T	A	12: 57,332,301	L182I	probably damaging	Het
Morc1	T	G	16: 48,561,617	S513R	probably benign	Het
Moxd2	A	T	6: 40,878,822	L611H	probably damaging	Het
Mpped2	T	C	2: 106,699,379		probably benign	Het
Mrpl51	T	C	6: 125,193,307	V92A	probably benign	Het
Mrps26	G	A	2: 130,563,761		probably benign	Het
Mrps5	A	G	2: 127,590,745	T29A	probably benign	Het
Mustn1	A	G	14: 30,879,560		probably benign	Het
Ncor2	G	A	5: 125,033,367	P858S	possibly damaging	Het
Nfasc	A	G	1: 132,602,021	F807S	probably damaging	Het
Nup50	G	A	15: 84,939,711	V422I	probably benign	Het
Olfr1044	T	A	2: 86,171,671	I49F	probably damaging	Het
Olfr1212	A	G	2: 88,958,586	N40S	probably damaging	Het
Olfr384	A	T	11: 73,603,057	H159L	probably damaging	Het
Olfr411	C	A	11: 74,346,943	V214L	probably benign	Het
Olfr417	T	A	1: 174,368,996	F26L	probably benign	Het
Olfr539	A	T	7: 140,667,313	M2L	probably benign	Het
Olfr695	A	T	7: 106,874,014	V77D	probably damaging	Het
Olfr907	T	A	9: 38,499,023	M118K	probably damaging	Het
Osbpl8	T	A	10: 111,204,800	M1K	probably null	Het
Pcdhb22	A	C	18: 37,519,034	D185A	possibly damaging	Het
Pcdhga8	G	T	18: 37,816,404	R291L	probably damaging	Het
Saysd1	A	T	14: 20,077,604	L84Q	possibly damaging	Het
Slc41a1	T	C	1: 131,830,770	I50T	probably benign	Het
Smg7	G	A	1: 152,844,269	P834S	probably benign	Het
Speer4a	C	T	5: 26,038,212	V92M	probably damaging	Het
Srf	T	C	17: 46,549,474	T461A	probably benign	Het
Ssu72	A	G	4: 155,715,596	D72G	possibly damaging	Het
Suco	T	C	1: 161,834,192	E890G	probably damaging	Het
Tenm3	A	G	8: 48,310,621		probably null	Het
Tm6sf1	A	G	7: 81,865,343	E7G	probably null	Het
Tmem52	T	A	4: 155,470,368	Y149*	probably null	Het
Tpgs2	A	T	18: 25,151,248	Y68N	possibly damaging	Het
Vmn1r205	T	A	13: 22,592,904	E9D	probably benign	Het
Vmn2r32	A	G	7: 7,479,954	V7A	possibly damaging	Het
Vmn2r80	T	C	10: 79,194,322	Y661H	possibly damaging	Het
Vps39	G	A	2: 120,321,831		probably benign	Het
Vwde	A	T	6: 13,196,048	V326D	possibly damaging	Het
Zfp641	T	A	15: 98,288,717	S342C	probably damaging	Het
Zfp961	T	C	8: 71,969,003		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
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'- CCCACACAGAGTCAGATTTGAG -3'
(R):5'- CGGTTGTAACACACGAAGCAC -3'

Sequencing Primer
(F):5'- CAGAGTCAGATTTGAGACAAATTTTG -3'
(R):5'- CACCTCGATTACGACTTAGTTTTAGG -3'

Posted On

2016-03-01