Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01113:Gm12888'

50921

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 #

IGL01113

Quality Score

Status

Chromosome

Chromosomal Location

121173513-121182114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121175521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 87 (C87F)

Ref Sequence

ENSEMBL: ENSMUSP00000095515 (fasta)

Gene Model

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

AlphaFold

Q3UW77

Predicted Effect

probably damaging
Transcript: ENSMUST00000097905
AA Change: C87F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095515
Gene: ENSMUSG00000073764
AA Change: C87F

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544L04Rik	A	G	7: 134,998,871 (GRCm39)		noncoding transcript	Het
Adam34l	T	C	8: 44,079,189 (GRCm39)	H345R	probably damaging	Het
Adgrv1	A	T	13: 81,637,147 (GRCm39)	F3431L	probably benign	Het
Adk	A	G	14: 21,142,461 (GRCm39)	N21S	probably damaging	Het
Cacna2d3	A	G	14: 29,022,688 (GRCm39)		probably benign	Het
Camk2d	C	A	3: 126,574,061 (GRCm39)	A156E	probably damaging	Het
Ccdc171	G	T	4: 83,580,047 (GRCm39)	W598L	probably damaging	Het
Cep85	C	T	4: 133,876,072 (GRCm39)	V445I	possibly damaging	Het
Cftr	A	G	6: 18,270,252 (GRCm39)	Y814C	probably damaging	Het
Dctn1	T	C	6: 83,156,879 (GRCm39)	S9P	probably benign	Het
Dmxl1	A	G	18: 50,045,818 (GRCm39)	K2409R	probably benign	Het
Dnaaf1	T	A	8: 120,309,317 (GRCm39)	I135N	probably damaging	Het
Eif3d	G	A	15: 77,847,515 (GRCm39)	T241M	probably damaging	Het
Etv1	T	C	12: 38,831,791 (GRCm39)		probably benign	Het
Gdpd3	C	A	7: 126,366,997 (GRCm39)	S182R	probably benign	Het
Gml	C	A	15: 74,685,576 (GRCm39)	M136I	probably benign	Het
Habp2	A	G	19: 56,298,548 (GRCm39)	T137A	probably benign	Het
Igkv6-25	C	T	6: 70,192,772 (GRCm39)	P60S	possibly damaging	Het
Mak	A	T	13: 41,195,619 (GRCm39)	W396R	probably damaging	Het
Mast4	C	A	13: 102,910,744 (GRCm39)	C441F	probably damaging	Het
Medag	T	C	5: 149,353,372 (GRCm39)	I189T	probably benign	Het
Myh1	A	G	11: 67,093,006 (GRCm39)	T71A	probably benign	Het
Nin	G	T	12: 70,078,553 (GRCm39)	L1678M	probably damaging	Het
Nol6	T	C	4: 41,115,749 (GRCm39)	D1081G	probably damaging	Het
Or1j4	A	T	2: 36,740,631 (GRCm39)	D191V	probably damaging	Het
Or6f1	A	T	7: 85,970,361 (GRCm39)	D266E	probably benign	Het
Ppp1r10	T	A	17: 36,240,451 (GRCm39)	N580K	probably damaging	Het
Rpgrip1l	T	C	8: 91,987,367 (GRCm39)		probably benign	Het
Serpinb3a	G	A	1: 106,978,789 (GRCm39)	Q57*	probably null	Het
Thumpd3	T	C	6: 113,037,021 (GRCm39)	S307P	probably benign	Het
Upf1	A	C	8: 70,790,934 (GRCm39)	D577E	probably benign	Het
Vmn2r99	T	C	17: 19,614,518 (GRCm39)	V746A	probably benign	Het
Wscd2	T	C	5: 113,708,800 (GRCm39)	V268A	probably damaging	Het

Other mutations in Gm12888

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Gm12888	APN	4	121,176,642 (GRCm39)	missense	possibly damaging	0.93
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

2013-06-21