Mutagenetix > Incidental Mutations

Incidental Mutation 'R5117:Tm9sf2'

392705

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf2

Ensembl Gene

ENSMUSG00000025544

Gene Name

transmembrane 9 superfamily member 2

Synonyms

D14Ertd64e, P76, 1500001N15Rik

MMRRC Submission

042705-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.896) question?

Stock #

R5117 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122107038-122159604 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 122143501 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 169 (Q169K)

Ref Sequence

ENSEMBL: ENSMUSP00000131227 (fasta)

Gene Model

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

AlphaFold

P58021

Predicted Effect

probably benign
Transcript: ENSMUST00000026624
AA Change: Q334K

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000026624
Gene: ENSMUSG00000025544
AA Change: Q334K

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: Q169K

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131227
Gene: ENSMUSG00000025544
AA Change: Q169K

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

0.0843

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

100% (67/67)

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
2010315B03Rik	G	A	9: 124,293,085	T403I	probably benign	Het
4921509C19Rik	T	C	2: 151,472,540	E406G	probably benign	Het
Abca8b	T	C	11: 109,966,803	E641G	probably damaging	Het
Agrn	T	C	4: 156,185,553	N49S	probably benign	Het
BC005561	A	G	5: 104,520,255	Y881C	probably damaging	Het
Cacna1b	A	G	2: 24,732,328	S215P	probably damaging	Het
Cacna1g	T	A	11: 94,432,503	I1292F	probably damaging	Het
Card14	T	A	11: 119,338,250	I662N	probably damaging	Het
Cep135	A	G	5: 76,631,429	K762R	probably benign	Het
Ces1b	A	G	8: 93,073,209		probably null	Het
Erich6	T	G	3: 58,623,205	I448L	probably benign	Het
Fads3	T	G	19: 10,041,958		probably null	Het
Fam234a	A	G	17: 26,213,538	F546L	probably benign	Het
Gm10717	T	C	9: 3,025,625	L70S	probably benign	Het
Gm11787	G	T	4: 3,509,524		noncoding transcript	Het
Gm5519	A	G	19: 33,825,071	*171W	probably null	Het
Grasp	A	G	15: 101,230,537	D152G	probably damaging	Het
Grid2	T	C	6: 63,256,933	I26T	probably benign	Het
Hmcn2	T	G	2: 31,458,049	C4902W	possibly damaging	Het
Hsp90aa1	T	C	12: 110,695,264	N106S	possibly damaging	Het
Il18	A	T	9: 50,581,509	N125I	possibly damaging	Het
Ints9	G	T	14: 64,993,091	E156*	probably null	Het
Kalrn	T	C	16: 34,033,601		probably null	Het
Klkb1	A	T	8: 45,289,112	D43E	possibly damaging	Het
Lipo3	A	T	19: 33,559,552	M256K	probably benign	Het
Lrrc29	T	A	8: 105,312,860	R595*	probably null	Het
Mapk6	C	A	9: 75,397,735	M133I	possibly damaging	Het
Med21	T	A	6: 146,647,283		probably benign	Het
Myrf	T	A	19: 10,212,493	E984V	probably damaging	Het
Naga	A	C	15: 82,337,456	M28R	probably damaging	Het
Nphp4	T	G	4: 152,524,232		probably null	Het
Nr1h4	T	C	10: 89,478,422	N295D	probably damaging	Het
Olfr1408	T	C	1: 173,130,917	Q100R	possibly damaging	Het
Olfr543	T	C	7: 102,477,502	M123V	probably damaging	Het
Olfr702	A	T	7: 106,823,662	I288N	probably damaging	Het
Parp9	C	A	16: 35,971,832		probably null	Het
Pax4	T	C	6: 28,446,279	I72V	probably benign	Het
Pcdh7	A	G	5: 57,721,748	I542V	probably benign	Het
Pcdhgb7	C	T	18: 37,752,886	R370W	probably damaging	Het
Pik3r1	G	A	13: 101,692,236	T18I	probably benign	Het
Ppara	A	G	15: 85,777,761	I68V	probably benign	Het
Ptch2	T	A	4: 117,105,949	I211N	probably damaging	Het
Senp6	G	A	9: 80,130,746	V715M	probably damaging	Het
Serf2	C	T	2: 121,450,703	P41L	possibly damaging	Het
Serpina12	T	C	12: 104,037,750	I208V	possibly damaging	Het
Serpinf2	T	C	11: 75,432,500	D460G	probably benign	Het
Sh3d21	T	C	4: 126,151,872	E338G	probably damaging	Het
Slc7a11	T	C	3: 50,379,150	D384G	probably damaging	Het
Snx15	A	G	19: 6,124,151		probably null	Het
Supt16	A	G	14: 52,183,092	F84L	probably damaging	Het
Trim56	A	T	5: 137,113,978	V228E	probably benign	Het
Triqk	T	A	4: 12,980,390		probably null	Het
Ttc21a	T	A	9: 119,966,565	I1155N	possibly damaging	Het
Ube3b	T	G	5: 114,419,631	Y1059D	probably damaging	Het
Vmn2r14	T	C	5: 109,216,095	T652A	probably benign	Het
Wdr4	A	G	17: 31,499,824	V304A	probably benign	Het
Wwp2	T	C	8: 107,554,062	S646P	possibly damaging	Het
Zfand5	T	A	19: 21,279,645	S130T	probably benign	Het
Zfp599	A	T	9: 22,250,100	Y256*	probably null	Het
Zfp703	C	T	8: 26,979,205	P299L	probably damaging	Het
Zfyve16	T	A	13: 92,505,689	I1209L	possibly 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
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'- ACTAGTGTTCCTGAGTGCCG -3'
(R):5'- TAGATCAATTTGGGGCCAAGTGG -3'

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

Posted On

2016-06-15