Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00588:Gm12888'

6583

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm12888

Ensembl Gene

ENSMUSG00000073764

Gene Name

predicted gene 12888

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL00588

Quality Score

Status

Chromosome

Chromosomal Location

121173513-121182114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121176642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 53 (M53K)

Ref Sequence

ENSEMBL: ENSMUSP00000095515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097905]

AlphaFold

Q3UW77

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097905
AA Change: M53K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095515
Gene: ENSMUSG00000073764
AA Change: M53K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Palm_thioest	32	119	2e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arrdc5	G	A	17: 56,601,262 (GRCm39)	P288S	probably damaging	Het
Atosa	A	G	9: 74,916,863 (GRCm39)	I487M	probably damaging	Het
Cd1d1	T	C	3: 86,905,480 (GRCm39)	D171G	probably damaging	Het
Cd96	T	C	16: 45,858,917 (GRCm39)	N530S	probably benign	Het
Csn1s1	A	G	5: 87,815,118 (GRCm39)	I5V	probably benign	Het
Fam120b	T	A	17: 15,622,857 (GRCm39)	Y278*	probably null	Het
Fam186a	T	C	15: 99,825,572 (GRCm39)		probably benign	Het
Fhip1a	G	A	3: 85,579,925 (GRCm39)	T760M	probably benign	Het
Gimap6	T	C	6: 48,679,355 (GRCm39)	K227R	possibly damaging	Het
Gli3	A	T	13: 15,818,977 (GRCm39)	T260S	possibly damaging	Het
Klhl9	C	T	4: 88,639,056 (GRCm39)	S395N	probably damaging	Het
Lpp	T	C	16: 24,663,938 (GRCm39)	M280T	probably damaging	Het
Ly96	A	G	1: 16,776,452 (GRCm39)		probably null	Het
Mamdc2	T	A	19: 23,330,680 (GRCm39)	T376S	possibly damaging	Het
Man2b1	C	A	8: 85,811,267 (GRCm39)		probably null	Het
Ndufs8	G	A	19: 3,961,740 (GRCm39)	R3C	probably benign	Het
Prox1	T	C	1: 189,855,607 (GRCm39)		probably benign	Het
Prrx1	T	C	1: 163,089,536 (GRCm39)	N97S	probably damaging	Het
Rfx3	G	A	19: 27,803,476 (GRCm39)	Q270*	probably null	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Slc1a2	A	G	2: 102,586,346 (GRCm39)	I317V	probably benign	Het
Smim15	T	C	13: 108,184,063 (GRCm39)	L23P	probably damaging	Het
Tcea3	A	T	4: 136,001,003 (GRCm39)	N338Y	probably damaging	Het
Ttn	A	T	2: 76,658,071 (GRCm39)		probably benign	Het
Zfp61	T	A	7: 23,990,520 (GRCm39)	I544F	probably benign	Het
Zfp954	C	T	7: 7,118,366 (GRCm39)	A393T	probably benign	Het

Other mutations in Gm12888

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01113:Gm12888	APN	4	121,175,521 (GRCm39)	missense	probably damaging	0.99
IGL02297:Gm12888	APN	4	121,181,996 (GRCm39)	missense	probably damaging	1.00
R2064:Gm12888	UTSW	4	121,182,069 (GRCm39)	missense	unknown
R2096:Gm12888	UTSW	4	121,176,655 (GRCm39)	missense	probably benign	0.07
R2447:Gm12888	UTSW	4	121,175,547 (GRCm39)	missense	possibly damaging	0.64
R5800:Gm12888	UTSW	4	121,176,625 (GRCm39)	missense	probably damaging	0.99
R6406:Gm12888	UTSW	4	121,176,654 (GRCm39)	missense	possibly damaging	0.93
R8255:Gm12888	UTSW	4	121,181,994 (GRCm39)	missense	probably damaging	0.99
R9159:Gm12888	UTSW	4	121,176,600 (GRCm39)	missense	probably null
R9299:Gm12888	UTSW	4	121,182,044 (GRCm39)	missense	unknown
R9738:Gm12888	UTSW	4	121,175,520 (GRCm39)	nonsense	probably null
Z1176:Gm12888	UTSW	4	121,182,005 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20