Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03091:Gm6401'

418364

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 #

IGL03091

Quality Score

Status

Chromosome

Chromosomal Location

41784668-41789884 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41786615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 184 (T184A)

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: T191A

SMART Domains

Protein: ENSMUSP00000129907
Gene: ENSMUSG00000095044
AA Change: T191A

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: T184A

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133168
Gene: ENSMUSG00000095044
AA Change: T184A

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	A	T	4: 126,352,982 (GRCm39)	Y314N	probably damaging	Het
Aknad1	A	G	3: 108,659,219 (GRCm39)	T78A	possibly damaging	Het
Arhgap33	G	A	7: 30,227,718 (GRCm39)	P494S	probably damaging	Het
Babam2	T	A	5: 31,943,022 (GRCm39)		probably null	Het
Ces2g	T	C	8: 105,691,386 (GRCm39)	V174A	probably damaging	Het
Chd1l	G	A	3: 97,470,863 (GRCm39)	R811C	probably damaging	Het
Crot	A	T	5: 9,016,897 (GRCm39)	H598Q	probably benign	Het
Dtx2	C	T	5: 136,041,228 (GRCm39)	S211L	probably damaging	Het
Duox2	T	G	2: 122,119,955 (GRCm39)	M852L	probably benign	Het
Fmc1	G	T	6: 38,516,170 (GRCm39)	S72I	probably damaging	Het
Fut1	T	C	7: 45,268,951 (GRCm39)	C302R	probably damaging	Het
Gsdma2	C	T	11: 98,542,828 (GRCm39)	T29I	probably damaging	Het
Lgi2	C	A	5: 52,721,307 (GRCm39)		probably null	Het
Lipe	A	G	7: 25,080,180 (GRCm39)	L926P	probably damaging	Het
Lrp1	T	A	10: 127,394,993 (GRCm39)	I2511F	probably benign	Het
Med10	T	C	13: 69,963,816 (GRCm39)		probably benign	Het
Nbea	A	G	3: 55,992,725 (GRCm39)	S294P	probably damaging	Het
Neb	T	A	2: 52,161,324 (GRCm39)	H2156L	probably benign	Het
Neo1	A	T	9: 58,885,951 (GRCm39)	N335K	probably damaging	Het
Nox3	G	T	17: 3,716,119 (GRCm39)	Q429K	probably benign	Het
Odad4	T	A	11: 100,441,076 (GRCm39)	Y102*	probably null	Het
Pkd1l1	T	C	11: 8,805,564 (GRCm39)	R1671G	probably damaging	Het
Plec	T	C	15: 76,073,503 (GRCm39)	T504A	possibly damaging	Het
Pou5f1	G	T	17: 35,820,939 (GRCm39)	R127L	probably benign	Het
Prkdc	T	A	16: 15,523,174 (GRCm39)		probably benign	Het
Rassf8	T	A	6: 145,761,536 (GRCm39)	N287K	probably benign	Het
Rdh16	T	C	10: 127,649,502 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,782,911 (GRCm39)	A1901V	possibly damaging	Het
Scnn1g	A	G	7: 121,345,906 (GRCm39)	Y343C	probably damaging	Het
Sema5a	A	G	15: 32,538,880 (GRCm39)		probably benign	Het
Slc9b2	G	A	3: 135,034,791 (GRCm39)	V310M	probably damaging	Het
Stox2	T	A	8: 47,646,222 (GRCm39)	I477F	possibly damaging	Het
Terb1	A	T	8: 105,195,786 (GRCm39)	H548Q	probably benign	Het
Tsks	G	A	7: 44,607,319 (GRCm39)	M547I	possibly damaging	Het
Tuba8	G	A	6: 121,197,403 (GRCm39)	E22K	probably damaging	Het
Wee2	T	C	6: 40,438,968 (GRCm39)	F364L	probably benign	Het
Zfp644	A	G	5: 106,784,724 (GRCm39)	Y608H	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
IGL03031:Gm6401	APN	14	41,788,851 (GRCm39)	missense	possibly damaging	0.89
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