Mutagenetix > Incidental Mutation

Incidental Mutation 'R5130:Fahd1'

394978

Institutional Source

Beutler Lab

Gene Symbol

Fahd1

Ensembl Gene

ENSMUSG00000045316

Gene Name

fumarylacetoacetate hydrolase domain containing 1

Synonyms

1110025H10Rik

MMRRC Submission

042718-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.337) question?

Stock #

R5130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25067870-25069276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25068733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 115 (C115R)

Ref Sequence

ENSEMBL: ENSMUSP00000055827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024974] [ENSMUST00000049642] [ENSMUST00000118788] [ENSMUST00000130989] [ENSMUST00000149716] [ENSMUST00000154363] [ENSMUST00000164251] [ENSMUST00000169200]

AlphaFold

Q8R0F8

Predicted Effect

probably benign
Transcript: ENSMUST00000024974

SMART Domains

Protein: ENSMUSP00000024974
Gene: ENSMUSG00000024158

Domain	Start	End	E-Value	Type
Lactamase_B	11	173	2.61e-32	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000049642
AA Change: C115R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055827
Gene: ENSMUSG00000045316
AA Change: C115R

Domain	Start	End	E-Value	Type
Pfam:FAA_hydrolase	22	223	4e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118788

SMART Domains

Protein: ENSMUSP00000113051
Gene: ENSMUSG00000024158

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
low complexity region	24	34	N/A	INTRINSIC
Lactamase_B	60	222	2.61e-32	SMART
Pfam:HAGH_C	223	304	5.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130989

SMART Domains

Protein: ENSMUSP00000120734
Gene: ENSMUSG00000024158

Domain	Start	End	E-Value	Type
Lactamase_B	11	166	1.53e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149716

SMART Domains

Protein: ENSMUSP00000114838
Gene: ENSMUSG00000024158

Domain	Start	End	E-Value	Type
Lactamase_B	11	132	1.22e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154363

SMART Domains

Protein: ENSMUSP00000114672
Gene: ENSMUSG00000024158

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
low complexity region	24	34	N/A	INTRINSIC
Pfam:Lactamase_B	56	106	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164251

SMART Domains

Protein: ENSMUSP00000129904
Gene: ENSMUSG00000024158

Domain	Start	End	E-Value	Type
Lactamase_B	11	173	2.61e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169200

SMART Domains

Protein: ENSMUSP00000126514
Gene: ENSMUSG00000024158

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
Lactamase_B	23	150	2.66e-1	SMART

Meta Mutation Damage Score

0.3051

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.4%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	C	1: 161,780,184 (GRCm39)	N110S	possibly damaging	Het
Acss3	T	C	10: 106,840,586 (GRCm39)	I392V	possibly damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Arhgef11	A	G	3: 87,633,321 (GRCm39)	H696R	possibly damaging	Het
Baiap3	G	T	17: 25,464,316 (GRCm39)	D847E	probably benign	Het
Cdc27	T	C	11: 104,425,600 (GRCm39)	K72R	probably benign	Het
Cry2	T	C	2: 92,254,944 (GRCm39)	E137G	probably benign	Het
Dhodh	A	T	8: 110,322,388 (GRCm39)	L237Q	possibly damaging	Het
Dscam	A	T	16: 96,620,979 (GRCm39)	N576K	probably benign	Het
Eng	A	G	2: 32,571,518 (GRCm39)	N636S	probably damaging	Het
Ephx2	A	T	14: 66,345,511 (GRCm39)	I151K	probably damaging	Het
Fer1l4	T	A	2: 155,891,386 (GRCm39)	I143F	possibly damaging	Het
Iqgap3	C	A	3: 88,016,161 (GRCm39)	N981K	probably damaging	Het
Kcna5	T	C	6: 126,511,496 (GRCm39)	I211V	probably benign	Het
Mcm9	A	T	10: 53,506,495 (GRCm39)	V14E	possibly damaging	Het
Mlh1	A	G	9: 111,058,906 (GRCm39)		probably null	Het
Mylk	A	G	16: 34,809,367 (GRCm39)	K1775E	probably damaging	Het
Myo18b	T	C	5: 113,021,769 (GRCm39)	D541G	probably benign	Het
Ncapd2	A	T	6: 125,146,887 (GRCm39)	M1233K	possibly damaging	Het
Nf2	A	T	11: 4,779,862 (GRCm39)		probably benign	Het
Nova2	C	T	7: 18,660,069 (GRCm39)	T22I	unknown	Het
Or3a1d	A	T	11: 74,237,993 (GRCm39)	M19K	probably damaging	Het
Or7g28	T	A	9: 19,272,369 (GRCm39)	Y94F	possibly damaging	Het
Or8b12	T	A	9: 37,657,805 (GRCm39)	I125N	probably damaging	Het
Pcdha2	A	T	18: 37,073,722 (GRCm39)	N451I	probably damaging	Het
Pcdhb12	T	A	18: 37,568,877 (GRCm39)	F8I	probably benign	Het
Pdzph1	A	C	17: 59,229,604 (GRCm39)	L1018W	probably damaging	Het
Prdm9	T	C	17: 15,764,729 (GRCm39)	R684G	probably benign	Het
Rabep1	T	A	11: 70,795,557 (GRCm39)	V261E	probably damaging	Het
Ros1	T	A	10: 52,040,037 (GRCm39)	Y318F	possibly damaging	Het
Samd9l	A	T	6: 3,374,548 (GRCm39)	D904E	possibly damaging	Het
Siah3	A	T	14: 75,763,381 (GRCm39)	K211*	probably null	Het
Slc5a8	T	A	10: 88,762,077 (GRCm39)	N572K	probably benign	Het
Slfn8	A	G	11: 82,894,647 (GRCm39)	F664S	probably benign	Het
Sowahb	T	A	5: 93,190,630 (GRCm39)	K696N	possibly damaging	Het
St7l	A	T	3: 104,803,080 (GRCm39)	H330L	probably damaging	Het
Tnrc6c	T	A	11: 117,629,176 (GRCm39)		probably null	Het
Ttc28	G	T	5: 111,040,722 (GRCm39)	V37F	probably benign	Het
Uaca	C	A	9: 60,787,510 (GRCm39)	Q1409K	probably damaging	Het
V1rd19	T	A	7: 23,702,537 (GRCm39)	M1K	probably null	Het
Vmn1r225	A	G	17: 20,723,047 (GRCm39)	R163G	possibly damaging	Het
Wdr87-ps	T	C	7: 29,228,699 (GRCm39)		noncoding transcript	Het
Zc3h3	C	A	15: 75,651,139 (GRCm39)	V694L	probably damaging	Het
Zfp442	G	T	2: 150,251,530 (GRCm39)	T123K	possibly damaging	Het
Zmym1	A	T	4: 126,942,451 (GRCm39)	S646T	probably damaging	Het

Other mutations in Fahd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02057:Fahd1	APN	17	25,068,570 (GRCm39)	missense	probably damaging	1.00
IGL02663:Fahd1	APN	17	25,068,478 (GRCm39)	missense	probably damaging	1.00
IGL02677:Fahd1	APN	17	25,068,504 (GRCm39)	missense	probably damaging	1.00
R0508:Fahd1	UTSW	17	25,068,975 (GRCm39)	missense	probably benign	0.22
R1915:Fahd1	UTSW	17	25,068,622 (GRCm39)	missense	possibly damaging	0.80
R2022:Fahd1	UTSW	17	25,068,814 (GRCm39)	missense	probably benign	0.01
R2314:Fahd1	UTSW	17	25,068,570 (GRCm39)	missense	probably damaging	1.00
R6746:Fahd1	UTSW	17	25,068,915 (GRCm39)	missense	probably damaging	1.00
R8220:Fahd1	UTSW	17	25,068,864 (GRCm39)	missense	probably damaging	0.98
R8546:Fahd1	UTSW	17	25,069,057 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CGGTCAAGATAAGATCTCCTTCTTCC -3'
(R):5'- AGGGCTCACCGGTGTTAATG -3'

Sequencing Primer
(F):5'- CTTAGAAACATAGCTGATGATGTAGG -3'
(R):5'- CGGTGTTAATGCCCGCTTACTG -3'

Posted On

2016-06-21