Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01074:Gm5458'

278152

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm5458

Ensembl Gene

ENSMUSG00000095024

Gene Name

predicted gene 5458

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01074

Quality Score

Status

Chromosome

Chromosomal Location

19644207-19652649 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 19649760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 155 (L155I)

Ref Sequence

ENSEMBL: ENSMUSP00000093833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096121]

AlphaFold

L7N219

Predicted Effect

probably damaging
Transcript: ENSMUST00000096121
AA Change: L155I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093833
Gene: ENSMUSG00000095024
AA Change: L155I

Domain	Start	End	E-Value	Type
Pfam:Takusan	46	129	1.8e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163800
AA Change: L155I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130345
Gene: ENSMUSG00000095024
AA Change: L155I

Domain	Start	End	E-Value	Type
Pfam:Takusan	46	129	2.4e-32	PFAM
transmembrane domain	240	262	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,849,726 (GRCm39)	D1934G	possibly damaging	Het
Adcy2	A	T	13: 68,944,773 (GRCm39)	I203N	possibly damaging	Het
Asxl3	T	C	18: 22,655,902 (GRCm39)	V1304A	probably damaging	Het
Bltp3a	A	G	17: 28,098,265 (GRCm39)	I136V	possibly damaging	Het
Cmah	A	G	13: 24,648,238 (GRCm39)	D491G	possibly damaging	Het
Cobll1	A	G	2: 64,938,192 (GRCm39)	S364P	probably damaging	Het
Cspg4	T	C	9: 56,806,149 (GRCm39)	L2320P	probably damaging	Het
Defa5	T	A	8: 21,787,592 (GRCm39)	F46L	possibly damaging	Het
Erich6b	T	A	14: 75,896,208 (GRCm39)	N31K	probably benign	Het
Fcrl6	C	T	1: 172,426,680 (GRCm39)	V89M	possibly damaging	Het
Hlx	T	C	1: 184,460,010 (GRCm39)	D376G	probably damaging	Het
Hmcn1	A	G	1: 150,502,784 (GRCm39)	S3948P	possibly damaging	Het
Igf2bp2	G	A	16: 21,882,454 (GRCm39)	R416W	probably damaging	Het
Lama4	T	C	10: 38,974,484 (GRCm39)		probably null	Het
Lingo4	T	C	3: 94,310,595 (GRCm39)	V511A	probably benign	Het
Mllt3	C	A	4: 87,710,118 (GRCm39)	V29L	probably benign	Het
Mmp16	T	C	4: 18,110,584 (GRCm39)		probably benign	Het
Moxd1	A	G	10: 24,155,282 (GRCm39)	R228G	probably benign	Het
Myrfl	T	C	10: 116,615,490 (GRCm39)	N802S	possibly damaging	Het
Nmu	C	A	5: 76,491,774 (GRCm39)	V121F	probably damaging	Het
Npepps	T	C	11: 97,108,637 (GRCm39)	T760A	probably damaging	Het
Ogfod1	G	T	8: 94,789,634 (GRCm39)	W445L	probably damaging	Het
Oplah	G	A	15: 76,189,948 (GRCm39)	P222S	probably damaging	Het
Or4c116	T	C	2: 88,942,023 (GRCm39)	T278A	probably benign	Het
Slc4a4	T	A	5: 89,327,633 (GRCm39)	L699H	probably damaging	Het
Sod3	C	T	5: 52,525,540 (GRCm39)	Q80*	probably null	Het
Syne2	C	T	12: 76,078,361 (GRCm39)	Q4732*	probably null	Het
Syne2	T	C	12: 76,033,785 (GRCm39)	I3678T	probably benign	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tmem220	T	C	11: 66,922,999 (GRCm39)		probably benign	Het
Ush1c	A	G	7: 45,874,674 (GRCm39)		probably benign	Het
Wbp2nl	T	C	15: 82,198,491 (GRCm39)	S343P	possibly damaging	Het

Other mutations in Gm5458

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Gm5458	APN	14	19,649,735 (GRCm39)	missense
IGL01116:Gm5458	APN	14	19,649,760 (GRCm39)	missense	probably damaging	0.99
IGL03083:Gm5458	APN	14	19,652,451 (GRCm39)	splice site	probably null
R6183:Gm5458	UTSW	14	19,649,712 (GRCm39)	missense	probably damaging	0.96
R7737:Gm5458	UTSW	14	19,649,805 (GRCm39)	splice site	probably null

Posted On

2015-04-16