Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01021:Gm3278'

53978

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm3278

Ensembl Gene

ENSMUSG00000091185

Gene Name

predicted gene 3278

Synonyms

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

IGL01021

Quality Score

Status

Chromosome

Chromosomal Location

4892416-4902431 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4895222 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 159 (V159L)

Ref Sequence

ENSEMBL: ENSMUSP00000131885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164459]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164459
AA Change: V159L

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131885
Gene: ENSMUSG00000091185
AA Change: V159L

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	128	7.2e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181364

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 125,318,676	V80A	unknown	Het
Adam28	A	G	14: 68,642,114	S162P	probably benign	Het
Adamts14	G	T	10: 61,225,373	S426Y	probably damaging	Het
Ankrd24	A	G	10: 81,635,161		probably null	Het
B3galt5	C	A	16: 96,315,723	H185Q	probably benign	Het
Bod1l	A	G	5: 41,838,173		probably benign	Het
Ddx46	T	A	13: 55,666,332	Y700*	probably null	Het
Dph7	T	G	2: 24,971,923		probably null	Het
Fcho1	A	T	8: 71,713,523	Y354*	probably null	Het
Fnbp4	A	G	2: 90,777,669	M912V	probably benign	Het
Fpgt	T	A	3: 155,091,492	E42V	possibly damaging	Het
Frmd3	A	G	4: 74,074,120	I75V	possibly damaging	Het
Gm10264	G	A	12: 88,329,272	G7R	unknown	Het
Gmds	T	C	13: 32,127,030	I205V	possibly damaging	Het
Gprin1	T	A	13: 54,740,369	S31C	probably damaging	Het
Igkv4-68	T	C	6: 69,304,881	E102G	probably damaging	Het
Itga1	T	A	13: 114,997,000	Y458F	probably benign	Het
Kif20b	T	C	19: 34,938,260	V479A	possibly damaging	Het
Megf8	T	A	7: 25,338,374	W772R	probably benign	Het
Muc6	T	A	7: 141,637,162	I2533F	possibly damaging	Het
Npas3	T	C	12: 54,003,560	S258P	probably damaging	Het
Padi3	T	C	4: 140,796,334		probably benign	Het
Pmfbp1	G	T	8: 109,537,993	R897L	possibly damaging	Het
Rims1	A	T	1: 22,486,620	W407R	probably damaging	Het
Scnn1b	G	T	7: 121,918,036	D632Y	probably damaging	Het
Tas2r123	G	A	6: 132,847,406	A89T	probably benign	Het
Tbk1	T	C	10: 121,551,272	E706G	probably benign	Het
Thra	A	G	11: 98,762,928	D195G	possibly damaging	Het
Tpp2	T	A	1: 43,934,187	Y33*	probably null	Het
Usp6nl	T	A	2: 6,424,387	M220K	probably damaging	Het
Vmn2r112	C	T	17: 22,618,904	T782I	probably damaging	Het
Zbtb43	T	C	2: 33,453,759	T485A	probably benign	Het
Zfat	T	C	15: 68,170,166	I840V	possibly damaging	Het

Other mutations in Gm3278

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01788:Gm3278	APN	14	4893332	missense	probably benign	0.45
R7506:Gm3278	UTSW	14	4893441	missense	probably damaging	1.00
R7660:Gm3278	UTSW	14	4893349	missense	probably damaging	0.97
R7806:Gm3278	UTSW	14	4895172	critical splice acceptor site	probably null

Posted On

2013-06-28