Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01881:Gm3402'

179029

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm3402

Ensembl Gene

ENSMUSG00000041505

Gene Name

predicted gene 3402

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01881

Quality Score

Status

Chromosome

Chromosomal Location

146450933-146453712 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146451408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 89 (I89F)

Ref Sequence

ENSEMBL: ENSMUSP00000036997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036715] [ENSMUST00000077133] [ENSMUST00000200228]

AlphaFold

K7N5P2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036715
AA Change: I89F

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036997
Gene: ENSMUSG00000041505
AA Change: I89F

Domain	Start	End	E-Value	Type
RasGEFN	66	181	7.38e-4	SMART
low complexity region	276	298	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077133
AA Change: I89F

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000076380
Gene: ENSMUSG00000041505
AA Change: I89F

Domain	Start	End	E-Value	Type
RasGEFN	66	181	7.38e-4	SMART
low complexity region	265	279	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200228
AA Change: I89F

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143398
Gene: ENSMUSG00000041505
AA Change: I89F

Domain	Start	End	E-Value	Type
RasGEFN	66	181	7.38e-4	SMART
low complexity region	265	287	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asl	A	T	5: 130,047,379 (GRCm39)		probably benign	Het
Cd3g	A	T	9: 44,882,566 (GRCm39)	Y160N	probably damaging	Het
Exoc8	T	A	8: 125,623,090 (GRCm39)	R426W	probably damaging	Het
Fam216a	A	G	5: 122,505,698 (GRCm39)	Y114H	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Mterf4	A	G	1: 93,232,363 (GRCm39)	S163P	probably damaging	Het
Myo7b	G	A	18: 32,133,320 (GRCm39)		probably benign	Het
Pde6b	A	T	5: 108,569,366 (GRCm39)	M358L	probably benign	Het
Ppp1cb	A	G	5: 32,635,487 (GRCm39)	I44V	probably benign	Het
Slitrk3	T	C	3: 72,956,639 (GRCm39)	E711G	probably benign	Het
Trappc9	A	T	15: 72,871,841 (GRCm39)	L492Q	probably damaging	Het
Tulp2	C	T	7: 45,170,219 (GRCm39)	R297W	probably damaging	Het

Other mutations in Gm3402

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03067:Gm3402	APN	5	146,451,399 (GRCm39)	missense	possibly damaging	0.69
R7264:Gm3402	UTSW	5	146,451,472 (GRCm39)	missense	probably damaging	0.97
R7335:Gm3402	UTSW	5	146,452,043 (GRCm39)	missense	probably benign	0.05
R7806:Gm3402	UTSW	5	146,451,090 (GRCm39)	missense	probably damaging	1.00
R9345:Gm3402	UTSW	5	146,451,330 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07