Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02593:Tm9sf5'

299800

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tm9sf5

Ensembl Gene

ENSMUSG00000079584

Gene Name

transmembrane 9 superfamily member 5

Synonyms

Gm364, LOC245423

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02593

Quality Score

Status

Chromosome

Chromosomal Location

56454514-56534127 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56467320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 245 (D245N)

Ref Sequence

ENSEMBL: ENSMUSP00000110373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114725]

AlphaFold

A2AFI6

Predicted Effect

probably benign
Transcript: ENSMUST00000114725
AA Change: D245N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000110373
Gene: ENSMUSG00000079584
AA Change: D245N

Domain	Start	End	E-Value	Type
Pfam:EMP70	83	628	2e-155	PFAM
transmembrane domain	634	668	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsg	G	T	16: 22,711,078 (GRCm39)		probably null	Het
Bbs4	C	T	9: 59,235,880 (GRCm39)	D232N	probably damaging	Het
Cdh23	A	T	10: 60,301,774 (GRCm39)		probably benign	Het
Cntn5	T	C	9: 9,833,504 (GRCm39)	N554S	probably damaging	Het
Fn1	T	C	1: 71,641,591 (GRCm39)	I1652V	probably benign	Het
Golga4	T	C	9: 118,384,634 (GRCm39)		probably benign	Het
Idh3a	T	A	9: 54,503,477 (GRCm39)		probably benign	Het
Jph2	T	C	2: 163,239,166 (GRCm39)	Y94C	probably damaging	Het
Lnx2	A	G	5: 146,969,825 (GRCm39)	S238P	possibly damaging	Het
Loxhd1	A	G	18: 77,498,235 (GRCm39)	I56V	possibly damaging	Het
Myo9b	A	C	8: 71,743,417 (GRCm39)	E159D	probably damaging	Het
Nkiras1	A	G	14: 18,278,475 (GRCm38)	N63S	possibly damaging	Het
Nnmt	A	G	9: 48,516,103 (GRCm39)		probably null	Het
Or13a22	G	A	7: 140,073,244 (GRCm39)	R231H	probably benign	Het
P2ry10	T	C	X: 106,146,302 (GRCm39)	I79T	possibly damaging	Het
Padi2	A	G	4: 140,677,153 (GRCm39)	H647R	probably damaging	Het
Pate10	T	A	9: 35,653,438 (GRCm39)	C81S	possibly damaging	Het
Ptchd4	A	G	17: 42,628,037 (GRCm39)	D166G	probably benign	Het
Scml2	T	C	X: 159,970,305 (GRCm39)	V125A	probably benign	Het
Senp2	A	G	16: 21,863,021 (GRCm39)	D556G	probably damaging	Het
Serpina3a	G	T	12: 104,084,691 (GRCm39)	V29L	probably benign	Het
Sgcz	A	T	8: 37,990,432 (GRCm39)	I307N	probably damaging	Het
Slc25a13	C	T	6: 6,042,265 (GRCm39)	V638I	probably benign	Het
Snx7	G	A	3: 117,633,609 (GRCm39)	L84F	probably damaging	Het
Ticrr	A	G	7: 79,345,214 (GRCm39)	D1693G	probably damaging	Het
Vmn2r7	C	T	3: 64,600,443 (GRCm39)	C485Y	probably damaging	Het
Vmn2r-ps129	C	T	17: 23,211,770 (GRCm39)		noncoding transcript	Het
Zfyve9	A	G	4: 108,539,420 (GRCm39)	V951A	possibly damaging	Het

Other mutations in Tm9sf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03193:Tm9sf5	APN	X	56,463,503 (GRCm39)	splice site	probably benign
X0026:Tm9sf5	UTSW	X	56,461,150 (GRCm39)	missense	possibly damaging	0.76
Z1088:Tm9sf5	UTSW	X	56,533,998 (GRCm39)	missense	probably benign	0.04
Z1176:Tm9sf5	UTSW	X	56,508,544 (GRCm39)	missense	probably benign	0.37
Z1176:Tm9sf5	UTSW	X	56,463,081 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16