Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02611:Gm17654'

300477

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm17654

Ensembl Gene

Gene Name

predicted gene, 17654

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

IGL02611

Quality Score

Status

Chromosome

Chromosomal Location

43813141-43816606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43816462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 47 (T47I)

Gene Model

predicted gene model for transcript(s):

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166110
AA Change: T47I

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130744
Gene: ENSMUSG00000095743
AA Change: T47I

Domain	Start	End	E-Value	Type
Pfam:Takusan	57	137	1e-26	PFAM
coiled coil region	164	186	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Chac1	T	A	2: 119,183,934 (GRCm39)	Y179N	probably damaging	Het
Cyp2c37	T	G	19: 39,982,309 (GRCm39)	F103L	probably benign	Het
Dmp1	A	T	5: 104,360,380 (GRCm39)	D352V	probably damaging	Het
Dpp8	T	C	9: 64,963,075 (GRCm39)	I443T	probably benign	Het
Furin	G	A	7: 80,041,526 (GRCm39)	A544V	probably benign	Het
Galntl6	A	G	8: 58,411,450 (GRCm39)	M260T	probably damaging	Het
Hadha	A	G	5: 30,333,941 (GRCm39)		probably benign	Het
Itfg2	T	A	6: 128,401,688 (GRCm39)	N30I	probably damaging	Het
Kntc1	T	A	5: 123,950,128 (GRCm39)	L1977H	probably damaging	Het
Lats1	T	C	10: 7,581,551 (GRCm39)	F779L	possibly damaging	Het
Ltbp4	T	C	7: 27,010,080 (GRCm39)	Y1160C	probably damaging	Het
Mcm7	C	A	5: 138,165,701 (GRCm39)	S401I	probably damaging	Het
Or2ag1b	G	T	7: 106,287,996 (GRCm39)	T314K	probably benign	Het
Or52n20	A	T	7: 104,320,614 (GRCm39)	D235V	possibly damaging	Het
Pcdh8	C	T	14: 80,005,107 (GRCm39)	V876I	probably benign	Het
Pfpl	T	C	19: 12,407,647 (GRCm39)	S633P	probably benign	Het
Psg29	G	A	7: 16,942,716 (GRCm39)	R239Q	probably benign	Het
St18	T	A	1: 6,839,114 (GRCm39)		probably benign	Het
Syt2	G	A	1: 134,669,620 (GRCm39)	C87Y	possibly damaging	Het
Unc79	A	G	12: 103,131,967 (GRCm39)	T2300A	probably damaging	Het

Other mutations in Gm17654

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Gm17654	APN	14	43,816,455 (GRCm39)	missense	unknown
IGL01352:Gm17654	APN	14	43,813,331 (GRCm39)	missense	probably damaging	1.00
IGL02750:Gm17654	APN	14	43,815,656 (GRCm39)	splice site	probably benign
R5213:Gm17654	UTSW	14	43,816,559 (GRCm39)	missense	probably damaging	0.98
R5504:Gm17654	UTSW	14	43,815,494 (GRCm39)	missense	unknown
R6340:Gm17654	UTSW	14	43,815,534 (GRCm39)	missense	unknown
R7054:Gm17654	UTSW	14	43,813,327 (GRCm39)	missense
R9624:Gm17654	UTSW	14	43,815,492 (GRCm39)	missense

Posted On

2015-04-16