Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01883:Gm18025'

179053

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm18025

Ensembl Gene

ENSMUSG00000095406

Gene Name

predicted gene, 18025

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01883

Quality Score

Status

Chromosome

Chromosomal Location

34340273-34341134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34340692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 134 (I134F)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000209750] [ENSMUST00000209902] [ENSMUST00000209990] [ENSMUST00000210724] [ENSMUST00000211752]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000166546
AA Change: I134F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132241
Gene: ENSMUSG00000095406
AA Change: I134F

Domain	Start	End	E-Value	Type
low complexity region	1	32	N/A	INTRINSIC
Pfam:Ribosomal_S5	81	143	8.7e-32	PFAM
Pfam:Ribosomal_S5_C	164	235	3e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209750

Predicted Effect

probably benign
Transcript: ENSMUST00000209902

Predicted Effect

probably benign
Transcript: ENSMUST00000209990

Predicted Effect

probably benign
Transcript: ENSMUST00000210724

Predicted Effect

probably benign
Transcript: ENSMUST00000211752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221733

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox3	C	A	1: 58,177,442 (GRCm39)	P219Q	probably damaging	Het
Arl2	A	G	19: 6,187,521 (GRCm39)	L109P	probably damaging	Het
Bhlha9	T	C	11: 76,563,924 (GRCm39)	S184P	probably benign	Het
C2cd3	G	A	7: 100,023,693 (GRCm39)	R93H	possibly damaging	Het
Cdcp1	A	G	9: 123,012,663 (GRCm39)	F295L	probably benign	Het
Cpsf7	A	T	19: 10,503,387 (GRCm39)	D6V	possibly damaging	Het
Fbxw28	A	T	9: 109,157,393 (GRCm39)	V285E	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Kif11	A	C	19: 37,372,791 (GRCm39)	T60P	probably benign	Het
Myo7b	T	C	18: 32,131,204 (GRCm39)	D521G	probably damaging	Het
Polg	A	G	7: 79,108,066 (GRCm39)	L583P	probably damaging	Het
Ppp6r1	A	T	7: 4,642,986 (GRCm39)		probably null	Het
Rmc1	G	A	18: 12,311,296 (GRCm39)	V125I	probably benign	Het
Snap91	A	T	9: 86,657,665 (GRCm39)	W509R	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Tmem79	T	C	3: 88,237,145 (GRCm39)	N353D	probably damaging	Het

Other mutations in Gm18025

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2979:Gm18025	UTSW	12	34,340,970 (GRCm39)	missense	probably damaging	1.00
R4681:Gm18025	UTSW	12	34,340,884 (GRCm39)	missense	probably benign	0.17
R5331:Gm18025	UTSW	12	34,340,574 (GRCm39)	missense	probably benign	0.00
R5820:Gm18025	UTSW	12	34,340,631 (GRCm39)	missense	probably benign

Posted On

2014-05-07