Mutagenetix > Incidental Mutation

Incidental Mutation 'R2314:Fahd1'

245439

Institutional Source

Beutler Lab

Gene Symbol

Fahd1

Ensembl Gene

ENSMUSG00000045316

Gene Name

fumarylacetoacetate hydrolase domain containing 1

Synonyms

1110025H10Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.360) question?

Stock #

R2314 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25067870-25069276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25068570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 169 (I169N)

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: I169N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055827
Gene: ENSMUSG00000045316
AA Change: I169N

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,309,322 (GRCm39)	S39P	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Anxa6	T	A	11: 54,902,561 (GRCm39)	I58F	probably damaging	Het
Ccdc30	T	A	4: 119,181,763 (GRCm39)	K582*	probably null	Het
Cebpz	A	G	17: 79,227,976 (GRCm39)		probably null	Het
Clstn3	T	A	6: 124,427,676 (GRCm39)	D473V	probably benign	Het
Cry1	A	T	10: 84,969,175 (GRCm39)	C550S	probably benign	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dolk	G	T	2: 30,175,497 (GRCm39)	L183M	probably damaging	Het
Dpys	T	C	15: 39,691,486 (GRCm39)	T279A	possibly damaging	Het
Drd4	T	C	7: 140,873,854 (GRCm39)	Y140H	probably damaging	Het
Duox1	C	A	2: 122,164,211 (GRCm39)	C890*	probably null	Het
Epha2	T	A	4: 141,046,325 (GRCm39)	V508E	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fgfr1	C	T	8: 26,060,909 (GRCm39)	S527F	probably damaging	Het
Flywch1	A	G	17: 23,982,000 (GRCm39)	V68A	probably benign	Het
Gm21834	A	T	17: 58,049,210 (GRCm39)	V2E	possibly damaging	Het
Gm7853	A	T	14: 35,811,621 (GRCm39)		noncoding transcript	Het
Igf2r	T	A	17: 12,934,830 (GRCm39)	H713L	probably benign	Het
Iqgap3	T	C	3: 88,023,338 (GRCm39)	V543A	probably benign	Het
Kcnq5	T	A	1: 21,549,595 (GRCm39)		probably null	Het
Lsm1	C	T	8: 26,275,712 (GRCm39)	P5S	possibly damaging	Het
Marchf1	T	C	8: 66,574,442 (GRCm39)	M1T	probably null	Het
Myocd	T	C	11: 65,091,633 (GRCm39)	H103R	probably damaging	Het
Myom2	C	T	8: 15,113,927 (GRCm39)	T25I	probably damaging	Het
Nck1	T	C	9: 100,380,003 (GRCm39)	K83E	probably damaging	Het
Nid2	A	G	14: 19,839,829 (GRCm39)	D806G	probably benign	Het
Onecut2	G	T	18: 64,474,268 (GRCm39)	R254L	probably damaging	Het
Or51k1	T	A	7: 103,661,436 (GRCm39)	M158L	probably benign	Het
Plxna1	A	C	6: 89,301,298 (GRCm39)	L1534R	probably damaging	Het
Polb	C	A	8: 23,130,018 (GRCm39)	A185S	possibly damaging	Het
Pou3f3	T	C	1: 42,737,651 (GRCm39)	V449A	probably damaging	Het
Pskh1	C	T	8: 106,640,145 (GRCm39)	T275I	probably damaging	Het
Rab18	C	A	18: 6,788,516 (GRCm39)	A161D	probably damaging	Het
Rrp8	T	C	7: 105,384,011 (GRCm39)	R164G	probably benign	Het
Sacs	T	A	14: 61,445,208 (GRCm39)	I2418K	probably benign	Het
Scrn1	T	C	6: 54,502,631 (GRCm39)	E136G	probably benign	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Slitrk6	C	T	14: 110,989,387 (GRCm39)	A107T	probably damaging	Het
Spata31e2	T	C	1: 26,723,783 (GRCm39)	S466G	probably benign	Het
Tktl2	T	A	8: 66,965,795 (GRCm39)	F451Y	probably damaging	Het
Tnks1bp1	G	A	2: 84,889,259 (GRCm39)	V529M	probably benign	Het
Trps1	T	C	15: 50,524,742 (GRCm39)	K874E	probably damaging	Het
Ttll9	T	A	2: 152,825,047 (GRCm39)	D75E	probably benign	Het
Ttn	A	G	2: 76,596,368 (GRCm39)	Y20182H	probably damaging	Het
Ufc1	A	T	1: 171,116,821 (GRCm39)	C116S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Zfp809	A	G	9: 22,149,976 (GRCm39)	K158E	possibly damaging	Het
Zfp81	A	G	17: 33,553,597 (GRCm39)	Y406H	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
R5130:Fahd1	UTSW	17	25,068,733 (GRCm39)	missense	probably damaging	0.98
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'- GTCCCAGGTCTTTTAGATCACG -3'
(R):5'- CATGACTGCCAGAGATGTGC -3'

Sequencing Primer
(F):5'- GGCACTCTACTCTCAGTATTCTG -3'
(R):5'- CTGCCAGAGATGTGCAGGAG -3'

Posted On

2014-10-30