Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

IGL03031

Quality Score

Status

Chromosome

Chromosomal Location

41784668-41789884 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41788851 bp (GRCm39)

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]

AlphaFold

F6T8D7

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: 71,353,183 (GRCm39)	D753G	probably benign	Het
Adat2	T	C	10: 13,432,590 (GRCm39)		probably benign	Het
Ahsa2	A	G	11: 23,440,426 (GRCm39)	L275S	probably benign	Het
Arhgef38	C	T	3: 132,837,828 (GRCm39)	D118N	possibly damaging	Het
Bicra	A	T	7: 15,709,726 (GRCm39)	H1097Q	probably benign	Het
C4b	T	C	17: 34,950,104 (GRCm39)	T1389A	possibly damaging	Het
Cd180	A	G	13: 102,841,535 (GRCm39)	S194G	probably benign	Het
Chgb	C	A	2: 132,635,434 (GRCm39)	Q459K	probably benign	Het
Clvs1	G	T	4: 9,449,385 (GRCm39)		probably benign	Het
Cpox	G	A	16: 58,492,923 (GRCm39)	G186R	probably damaging	Het
Cul5	A	G	9: 53,553,975 (GRCm39)		probably benign	Het
Epsti1	G	A	14: 78,212,021 (GRCm39)	R249K	probably benign	Het
Gabrg1	A	T	5: 70,952,025 (GRCm39)	Y90*	probably null	Het
Gabrp	T	C	11: 33,504,980 (GRCm39)	R274G	probably damaging	Het
Hectd4	C	T	5: 121,486,857 (GRCm39)	T3284M	possibly damaging	Het
Hoxc9	T	C	15: 102,892,522 (GRCm39)	M245T	probably damaging	Het
Lpar6	T	C	14: 73,476,882 (GRCm39)	V281A	possibly damaging	Het
Med18	G	T	4: 132,186,924 (GRCm39)	Q192K	possibly damaging	Het
Mis18bp1	A	G	12: 65,208,704 (GRCm39)	V3A	probably benign	Het
Mpped2	G	T	2: 106,613,968 (GRCm39)		probably benign	Het
Ms4a10	A	G	19: 10,946,035 (GRCm39)	V32A	probably benign	Het
Mthfd1l	T	A	10: 3,968,601 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,097,213 (GRCm39)	Q422L	possibly damaging	Het
Myo3b	A	T	2: 70,085,721 (GRCm39)	Q819L	possibly damaging	Het
Ncoa1	G	A	12: 4,324,818 (GRCm39)	T921I	possibly damaging	Het
Or10d4b	A	G	9: 39,534,694 (GRCm39)	I92V	probably damaging	Het
Or6c214	A	G	10: 129,591,238 (GRCm39)	L27P	possibly damaging	Het
Or8c16	A	C	9: 38,130,361 (GRCm39)	T81P	probably damaging	Het
Phf3	A	G	1: 30,843,734 (GRCm39)	S1742P	probably benign	Het
Plxdc2	G	A	2: 16,655,043 (GRCm39)		probably null	Het
Poc5	A	G	13: 96,538,123 (GRCm39)	T263A	probably benign	Het
Prss41	T	A	17: 24,061,396 (GRCm39)	I132F	probably damaging	Het
Pxylp1	A	G	9: 96,707,195 (GRCm39)	I329T	probably benign	Het
Rbm27	T	C	18: 42,466,464 (GRCm39)		probably null	Het
Rnps1-ps	T	C	6: 7,982,857 (GRCm39)		noncoding transcript	Het
Rpgrip1l	A	T	8: 91,987,411 (GRCm39)	V882E	probably damaging	Het
Sec16b	T	C	1: 157,388,369 (GRCm39)	S579P	probably benign	Het
Senp7	A	G	16: 55,996,249 (GRCm39)	E776G	probably damaging	Het
Smc2	A	G	4: 52,449,638 (GRCm39)	I207V	probably benign	Het
Spata31e5	A	G	1: 28,817,664 (GRCm39)	F123L	probably benign	Het
Spats2	A	G	15: 99,078,569 (GRCm39)	T211A	probably benign	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Syt11	A	T	3: 88,656,148 (GRCm39)	M1K	probably null	Het
Tacc2	A	G	7: 130,225,585 (GRCm39)	T757A	possibly damaging	Het
Tecta	A	C	9: 42,256,789 (GRCm39)	M1629R	probably benign	Het
Ufsp2	T	A	8: 46,437,137 (GRCm39)	I101N	probably damaging	Het
Unc13b	T	A	4: 43,235,368 (GRCm39)	C892S	probably damaging	Het
Ush1c	A	G	7: 45,874,361 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,208,381 (GRCm39)	V167E	probably benign	Het
Wdfy4	A	G	14: 32,862,608 (GRCm39)	L588P	probably damaging	Het
Zfyve1	T	C	12: 83,621,595 (GRCm39)	T267A	probably damaging	Het

Other mutations in Gm6401

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02943:Gm6401	APN	14	41,788,851 (GRCm39)	missense	possibly damaging	0.89
IGL03006:Gm6401	APN	14	41,788,851 (GRCm39)	missense	possibly damaging	0.89
IGL03091:Gm6401	APN	14	41,786,615 (GRCm39)	missense	possibly damaging	0.78
R1710:Gm6401	UTSW	14	41,788,840 (GRCm39)	missense	probably benign	0.04
R5048:Gm6401	UTSW	14	41,789,724 (GRCm39)	splice site	probably null
R5106:Gm6401	UTSW	14	41,787,463 (GRCm39)	missense	probably damaging	1.00
R6257:Gm6401	UTSW	14	41,789,828 (GRCm39)	missense	probably benign
R6362:Gm6401	UTSW	14	41,789,727 (GRCm39)	missense	probably benign	0.01
R6571:Gm6401	UTSW	14	41,787,452 (GRCm39)	missense	probably damaging	0.99
R6599:Gm6401	UTSW	14	41,788,821 (GRCm39)	nonsense	probably null
R6802:Gm6401	UTSW	14	41,788,874 (GRCm39)	missense	probably damaging	0.98
R8237:Gm6401	UTSW	14	41,787,452 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02