Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02525:Gm17078'

297036

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm17078

Ensembl Gene

ENSMUSG00000094715

Gene Name

predicted gene 17078

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

IGL02525

Quality Score

Status

Chromosome

Chromosomal Location

51606807-51611310 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51611223 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 19 (N19S)

Ref Sequence

ENSEMBL: ENSMUSP00000137655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096170] [ENSMUST00000167617]

Predicted Effect

probably benign
Transcript: ENSMUST00000096170

SMART Domains

Protein: ENSMUSP00000093884
Gene: ENSMUSG00000079244

Domain	Start	End	E-Value	Type
Pfam:Takusan	56	144	1.3e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167617
AA Change: N19S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137655
Gene: ENSMUSG00000094715
AA Change: N19S

Domain	Start	End	E-Value	Type
Pfam:Takusan	53	136	4.5e-27	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	T	8: 24,611,044	V701I	probably benign	Het
Adam18	A	G	8: 24,641,767		probably benign	Het
Adamts20	G	T	15: 94,283,078		probably null	Het
Adgrf5	G	T	17: 43,449,963	V850F	probably damaging	Het
Agap2	T	A	10: 127,083,201		probably null	Het
Ap4b1	G	A	3: 103,812,848	R62K	probably damaging	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Ccdc12	T	A	9: 110,711,101	D120E	probably damaging	Het
Ccdc22	A	G	X: 7,595,010	S529P	probably damaging	Het
Col1a2	A	G	6: 4,531,355		probably benign	Het
Ddx59	A	T	1: 136,417,005	Q138L	probably benign	Het
Dlc1	A	T	8: 36,579,646	F1091L	probably damaging	Het
Dnah1	C	T	14: 31,305,833	V682M	probably benign	Het
Dock9	C	T	14: 121,640,126	D404N	probably damaging	Het
Eif2b4	A	G	5: 31,189,618	V402A	probably damaging	Het
Erlin1	T	C	19: 44,039,195	H268R	probably benign	Het
Ermard	T	C	17: 15,059,339		probably benign	Het
Fam43a	A	G	16: 30,600,778	K60R	probably benign	Het
Frmd4b	T	A	6: 97,412,533	D78V	probably damaging	Het
Gabrq	A	G	X: 72,836,824	T308A	possibly damaging	Het
Gipr	A	G	7: 19,159,765	C328R	possibly damaging	Het
Gm17541	T	C	12: 4,689,907		probably benign	Het
Gm21759	T	C	5: 8,179,967		probably benign	Het
Gm7964	A	G	7: 83,756,042		noncoding transcript	Het
Gspt1	A	G	16: 11,230,990	V318A	probably damaging	Het
Gtf2ird2	A	G	5: 134,216,477	S526G	probably benign	Het
Hey2	A	G	10: 30,842,647	M1T	probably null	Het
Hipk3	T	C	2: 104,471,412	D145G	probably damaging	Het
Ick	A	G	9: 78,160,393	K390E	probably benign	Het
Itgae	A	G	11: 73,130,951	D886G	probably damaging	Het
Ktn1	T	A	14: 47,724,743		probably null	Het
Med12l	A	G	3: 59,068,368	K239R	probably benign	Het
Milr1	A	T	11: 106,765,275	M124L	probably benign	Het
Mon1b	G	T	8: 113,638,823	R261L	possibly damaging	Het
Mterf1a	G	A	5: 3,891,583	S95F	probably benign	Het
Myef2	C	A	2: 125,114,058		probably benign	Het
Nfrkb	T	A	9: 31,414,516	I1085N	possibly damaging	Het
Olfr275	A	T	4: 52,825,616	Y73F	probably damaging	Het
Olfr924	T	A	9: 38,848,240	M42K	possibly damaging	Het
Prodh	G	A	16: 18,072,468	Q430*	probably null	Het
Pstk	G	T	7: 131,371,193	R7L	probably benign	Het
Ptgr1	C	A	4: 58,978,067	E108D	probably benign	Het
Ptpn9	T	A	9: 57,036,725	Y294*	probably null	Het
Rnls	C	T	19: 33,138,214	V153M	possibly damaging	Het
Ros1	T	C	10: 52,116,042	T1362A	possibly damaging	Het
Samt3	G	A	X: 86,046,921	A140T	possibly damaging	Het
Sbpl	T	A	17: 23,954,863	M16L	unknown	Het
Sephs1	G	A	2: 4,906,596	C327Y	probably damaging	Het
Slc13a1	A	T	6: 24,137,136	I93N	probably damaging	Het
Slc34a1	T	C	13: 55,403,238		probably benign	Het
Slc7a9	T	C	7: 35,453,435	S93P	probably damaging	Het
Slx4	A	G	16: 3,980,597	S1444P	probably damaging	Het
Stk32b	C	T	5: 37,531,633	V116M	probably damaging	Het
Supt5	A	G	7: 28,318,947		probably benign	Het
Syne2	T	A	12: 76,101,003	S6439T	probably damaging	Het
Taar7d	A	G	10: 24,028,096	D292G	possibly damaging	Het
Tal2	A	T	4: 53,785,971	I51F	probably damaging	Het
Thegl	T	A	5: 77,016,553	D134E	probably benign	Het
Tk2	A	T	8: 104,243,400	N77K	probably benign	Het
Tmprss3	T	A	17: 31,194,891		probably benign	Het
Tnfrsf10b	T	C	14: 69,782,376	M319T	probably damaging	Het
Trim24	A	G	6: 37,945,718	R417G	probably damaging	Het
Ttn	C	A	2: 76,764,314	G18717*	probably null	Het
Vmn2r102	A	G	17: 19,681,185	T525A	probably benign	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Wnt3	C	T	11: 103,812,470	R260W	probably damaging	Het
Xdh	T	A	17: 73,924,995	Q240L	possibly damaging	Het
Zbtb5	T	C	4: 44,994,731	T218A	probably benign	Het
Znfx1	C	T	2: 167,037,537	E776K	probably benign	Het

Other mutations in Gm17078

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02983:Gm17078	APN	14	51611190	missense	probably benign	0.00
R5028:Gm17078	UTSW	14	51611242	missense	probably null	0.99
R6438:Gm17078	UTSW	14	51611238	missense	probably benign	0.41

Posted On

2015-04-16