Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03031:Gm6401'

408442

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm6401

Ensembl Gene

ENSMUSG00000095044

Gene Name

predicted gene 6401

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

IGL03031

Quality Score

Status

Chromosome

Chromosomal Location

41962708-41967927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41966894 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 73 (E73K)

Ref Sequence

ENSEMBL: ENSMUSP00000133168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064162] [ENSMUST00000164232] [ENSMUST00000168972]

Predicted Effect

probably benign
Transcript: ENSMUST00000064162

SMART Domains

Protein: ENSMUSP00000064211
Gene: ENSMUSG00000052334

Domain	Start	End	E-Value	Type
Pfam:Takusan	10	93	3.7e-35	PFAM
coiled coil region	108	141	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000163566
AA Change: E80K

SMART Domains

Protein: ENSMUSP00000129907
Gene: ENSMUSG00000095044
AA Change: E80K

Domain	Start	End	E-Value	Type
Pfam:Takusan	57	137	2.2e-26	PFAM
coiled coil region	164	186	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164232
AA Change: E73K

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133168
Gene: ENSMUSG00000095044
AA Change: E73K

Domain	Start	End	E-Value	Type
Pfam:Takusan	49	129	1.5e-26	PFAM
coiled coil region	157	179	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168972

SMART Domains

Protein: ENSMUSP00000127922
Gene: ENSMUSG00000052334

Domain	Start	End	E-Value	Type
Pfam:Takusan	10	93	8.6e-36	PFAM
coiled coil region	108	141	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,314,024	D753G	probably benign	Het
Adat2	T	C	10: 13,556,846		probably benign	Het
Ahsa2	A	G	11: 23,490,426	L275S	probably benign	Het
Arhgef38	C	T	3: 133,132,067	D118N	possibly damaging	Het
Bicra	A	T	7: 15,975,801	H1097Q	probably benign	Het
C4b	T	C	17: 34,731,130	T1389A	possibly damaging	Het
Cd180	A	G	13: 102,705,027	S194G	probably benign	Het
Chgb	C	A	2: 132,793,514	Q459K	probably benign	Het
Clvs1	G	T	4: 9,449,385		probably benign	Het
Cpox	G	A	16: 58,672,560	G186R	probably damaging	Het
Cul5	A	G	9: 53,642,675		probably benign	Het
Epsti1	G	A	14: 77,974,581	R249K	probably benign	Het
Gabrg1	A	T	5: 70,794,682	Y90*	probably null	Het
Gabrp	T	C	11: 33,554,980	R274G	probably damaging	Het
Gm597	A	G	1: 28,778,583	F123L	probably benign	Het
Gm9825	T	C	6: 7,982,857		noncoding transcript	Het
Hectd4	C	T	5: 121,348,794	T3284M	possibly damaging	Het
Hoxc9	T	C	15: 102,984,090	M245T	probably damaging	Het
Lpar6	T	C	14: 73,239,442	V281A	possibly damaging	Het
Med18	G	T	4: 132,459,613	Q192K	possibly damaging	Het
Mis18bp1	A	G	12: 65,161,930	V3A	probably benign	Het
Mpped2	G	T	2: 106,783,623		probably benign	Het
Ms4a10	A	G	19: 10,968,671	V32A	probably benign	Het
Mthfd1l	T	A	10: 4,018,601		probably null	Het
Myh1	A	T	11: 67,206,387	Q422L	possibly damaging	Het
Myo3b	A	T	2: 70,255,377	Q819L	possibly damaging	Het
Ncoa1	G	A	12: 4,274,818	T921I	possibly damaging	Het
Olfr807	A	G	10: 129,755,369	L27P	possibly damaging	Het
Olfr894	A	C	9: 38,219,065	T81P	probably damaging	Het
Olfr960	A	G	9: 39,623,398	I92V	probably damaging	Het
Phf3	A	G	1: 30,804,653	S1742P	probably benign	Het
Plxdc2	G	A	2: 16,650,232		probably null	Het
Poc5	A	G	13: 96,401,615	T263A	probably benign	Het
Prss41	T	A	17: 23,842,422	I132F	probably damaging	Het
Pxylp1	A	G	9: 96,825,142	I329T	probably benign	Het
Rbm27	T	C	18: 42,333,399		probably null	Het
Rpgrip1l	A	T	8: 91,260,783	V882E	probably damaging	Het
Sec16b	T	C	1: 157,560,799	S579P	probably benign	Het
Senp7	A	G	16: 56,175,886	E776G	probably damaging	Het
Smc2	A	G	4: 52,449,638	I207V	probably benign	Het
Spats2	A	G	15: 99,180,688	T211A	probably benign	Het
Sphkap	A	T	1: 83,276,831	S779T	probably damaging	Het
Syt11	A	T	3: 88,748,841	M1K	probably null	Het
Tacc2	A	G	7: 130,623,855	T757A	possibly damaging	Het
Tecta	A	C	9: 42,345,493	M1629R	probably benign	Het
Ufsp2	T	A	8: 45,984,100	I101N	probably damaging	Het
Unc13b	T	A	4: 43,235,368	C892S	probably damaging	Het
Ush1c	A	G	7: 46,224,937		probably benign	Het
Vwde	A	T	6: 13,208,382	V167E	probably benign	Het
Wdfy4	A	G	14: 33,140,651	L588P	probably damaging	Het
Zfyve1	T	C	12: 83,574,821	T267A	probably damaging	Het

Other mutations in Gm6401

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02943:Gm6401	APN	14	41966894	missense	possibly damaging	0.89
IGL03006:Gm6401	APN	14	41966894	missense	possibly damaging	0.89
IGL03091:Gm6401	APN	14	41964658	missense	possibly damaging	0.78
R1710:Gm6401	UTSW	14	41966883	missense	probably benign	0.04
R5048:Gm6401	UTSW	14	41967767	splice site	probably null
R5106:Gm6401	UTSW	14	41965506	missense	probably damaging	1.00
R6257:Gm6401	UTSW	14	41967871	missense	probably benign
R6362:Gm6401	UTSW	14	41967770	missense	probably benign	0.01
R6571:Gm6401	UTSW	14	41965495	missense	probably damaging	0.99
R6599:Gm6401	UTSW	14	41966864	nonsense	probably null
R6802:Gm6401	UTSW	14	41966917	missense	probably damaging	0.98

Posted On

2016-08-02