Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01344:Fahd2a'

74988

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fahd2a

Ensembl Gene

ENSMUSG00000027371

Gene Name

fumarylacetoacetate hydrolase domain containing 2A

Synonyms

1500003K14Rik, B430104H02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01344

Quality Score

Status

Chromosome

Chromosomal Location

127278135-127286485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127283987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 18 (K18E)

Ref Sequence

ENSEMBL: ENSMUSP00000028848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028848]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028848
AA Change: K18E

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028848
Gene: ENSMUSG00000027371
AA Change: K18E

Domain	Start	End	E-Value	Type
low complexity region	47	53	N/A	INTRINSIC
Pfam:FAA_hydrolase	107	313	3.1e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146757

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	A	G	2: 156,699,020 (GRCm39)		probably benign	Het
Aak1	A	G	6: 86,923,139 (GRCm39)	K237R	possibly damaging	Het
Antxrl	A	C	14: 33,797,554 (GRCm39)	M510L	probably benign	Het
Bdp1	T	C	13: 100,214,588 (GRCm39)	D417G	probably benign	Het
C3	T	G	17: 57,531,880 (GRCm39)	N250T	probably benign	Het
Cacna2d1	T	A	5: 16,575,629 (GRCm39)	I1073K	probably benign	Het
Ccin	A	T	4: 43,984,069 (GRCm39)	N159Y	probably damaging	Het
Cep76	T	C	18: 67,756,467 (GRCm39)	T455A	possibly damaging	Het
Chaf1a	T	A	17: 56,371,104 (GRCm39)	V663E	probably damaging	Het
Chit1	T	C	1: 134,079,052 (GRCm39)	F454S	probably damaging	Het
Cimip2a	A	T	2: 25,110,345 (GRCm39)	I86F	possibly damaging	Het
Clasp2	A	G	9: 113,642,360 (GRCm39)		probably null	Het
Ctcfl	G	T	2: 172,936,527 (GRCm39)	A615E	possibly damaging	Het
Edaradd	T	C	13: 12,493,371 (GRCm39)	D107G	probably damaging	Het
Efl1	T	C	7: 82,330,688 (GRCm39)		probably benign	Het
Eps15l1	A	G	8: 73,136,169 (GRCm39)		probably null	Het
Fbxl20	A	T	11: 97,990,926 (GRCm39)	C147*	probably null	Het
Gsap	G	T	5: 21,447,881 (GRCm39)		probably null	Het
Gtse1	A	T	15: 85,746,267 (GRCm39)		probably null	Het
Kcp	A	T	6: 29,498,950 (GRCm39)		probably null	Het
Llgl2	A	G	11: 115,742,019 (GRCm39)	D687G	probably benign	Het
Mcpt8	T	A	14: 56,321,402 (GRCm39)	I21F	probably damaging	Het
Met	C	A	6: 17,547,031 (GRCm39)	S888Y	probably benign	Het
Mrtfa	T	C	15: 80,900,503 (GRCm39)	T663A	probably damaging	Het
Ngf	A	G	3: 102,427,628 (GRCm39)	T130A	probably benign	Het
Otud7b	T	A	3: 96,058,297 (GRCm39)		probably benign	Het
Preb	C	T	5: 31,113,388 (GRCm39)	V349M	probably damaging	Het
Prmt1	G	T	7: 44,627,059 (GRCm39)		probably benign	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Ptprt	T	A	2: 161,393,737 (GRCm39)	D1209V	probably damaging	Het
Rigi	G	A	4: 40,208,883 (GRCm39)	T698I	probably damaging	Het
Sh3bp4	A	G	1: 89,080,958 (GRCm39)	N925S	probably benign	Het
Skint3	T	A	4: 112,147,519 (GRCm39)	M414K	possibly damaging	Het
Skor1	A	T	9: 63,049,560 (GRCm39)	S787R	possibly damaging	Het
Slc12a7	T	A	13: 73,940,856 (GRCm39)	I288N	probably damaging	Het
Smg1	A	G	7: 117,790,059 (GRCm39)		probably benign	Het
Tpp2	C	T	1: 44,022,422 (GRCm39)	T940I	probably benign	Het
Trappc11	A	T	8: 47,972,739 (GRCm39)	I278N	probably damaging	Het
Umodl1	G	A	17: 31,215,238 (GRCm39)	V1021I	probably damaging	Het
Usp24	T	C	4: 106,236,582 (GRCm39)	S1059P	possibly damaging	Het

Other mutations in Fahd2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1897:Fahd2a	UTSW	2	127,278,530 (GRCm39)	missense	probably damaging	1.00
R4190:Fahd2a	UTSW	2	127,280,486 (GRCm39)	missense	probably benign	0.19
R4993:Fahd2a	UTSW	2	127,278,284 (GRCm39)	missense	probably benign	0.08
R5327:Fahd2a	UTSW	2	127,283,878 (GRCm39)	missense	possibly damaging	0.92
R7473:Fahd2a	UTSW	2	127,282,376 (GRCm39)	missense	probably damaging	0.97
R9197:Fahd2a	UTSW	2	127,278,284 (GRCm39)	missense	possibly damaging	0.70
R9725:Fahd2a	UTSW	2	127,278,304 (GRCm39)	missense	probably benign	0.04

Posted On

2013-10-07