Mutagenetix > Incidental Mutations

Incidental Mutation 'R1199:Ftcd'

101218

Institutional Source

Beutler Lab

Gene Symbol

Ftcd

Ensembl Gene

ENSMUSG00000001155

Gene Name

formiminotransferase cyclodeaminase

Synonyms

glutamate formiminotransferase

MMRRC Submission

039269-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R1199 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

76575648-76590338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76579819 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 135 (R135H)

Ref Sequence

ENSEMBL: ENSMUSP00000001183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001183]

Predicted Effect

probably damaging
Transcript: ENSMUST00000001183
AA Change: R135H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001183
Gene: ENSMUSG00000001155
AA Change: R135H

Domain	Start	End	E-Value	Type
FTCD_N	3	180	1.6e-120	SMART
FTCD	181	325	6.92e-93	SMART
Pfam:FTCD_C	339	520	1.3e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137347

Meta Mutation Damage Score

0.2333

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

96% (55/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	T	9: 108,393,477	H80L	possibly damaging	Het
A1bg	A	T	15: 60,919,635		probably null	Het
Aco2	C	T	15: 81,895,193	S33L	probably damaging	Het
Agrn	T	A	4: 156,172,299	Y1283F	probably benign	Het
Akap6	T	C	12: 52,796,190	V107A	probably damaging	Het
Amph	G	A	13: 19,142,028	V643M	probably damaging	Het
Btnl9	A	T	11: 49,180,747	V83E	probably damaging	Het
Camk2a	T	A	18: 60,952,324	C131*	probably null	Het
Ccdc14	C	T	16: 34,723,828	T852M	probably damaging	Het
Cntn4	T	C	6: 106,353,597		probably benign	Het
Cp	T	G	3: 19,977,152	S585R	probably damaging	Het
Cpt1b	G	A	15: 89,419,010	A614V	probably benign	Het
Crygn	T	C	5: 24,751,148	Y153C	probably damaging	Het
Dennd1a	A	T	2: 37,961,716	D53E	probably damaging	Het
Deptor	T	C	15: 55,252,010	C357R	probably benign	Het
Dnajc28	C	A	16: 91,618,642		probably benign	Het
Eml6	G	A	11: 29,755,044	A1500V	possibly damaging	Het
Fgd5	T	A	6: 91,986,978	L64Q	possibly damaging	Het
Fgfbp1	A	G	5: 43,979,597	Y118H	probably damaging	Het
Gm5174	A	T	10: 86,657,325		noncoding transcript	Het
Gpr37l1	A	T	1: 135,166,972	L178Q	probably damaging	Het
Gtf2ird1	A	G	5: 134,411,064	V104A	possibly damaging	Het
Irs1	T	A	1: 82,289,626	S290C	probably damaging	Het
Kel	C	T	6: 41,688,591	V532I	possibly damaging	Het
Kif1c	A	G	11: 70,708,601	E442G	possibly damaging	Het
Klhdc10	T	A	6: 30,449,494	V185D	probably damaging	Het
Lpp	C	T	16: 24,681,860	R141C	probably damaging	Het
Olfr1025-ps1	A	G	2: 85,918,035	I37V	probably benign	Het
Olfr68	A	T	7: 103,777,985	M120K	probably damaging	Het
Pcnx2	G	T	8: 125,887,314	P466H	possibly damaging	Het
Pcsk1	A	T	13: 75,096,413		probably benign	Het
Pkd2l2	T	C	18: 34,438,216		probably null	Het
Pomt1	A	G	2: 32,250,492	N454S	probably benign	Het
Samhd1	A	T	2: 157,109,461	I452N	probably damaging	Het
Sez6	A	G	11: 77,953,885	Q178R	probably benign	Het
Slc25a44	A	G	3: 88,420,986	V66A	probably damaging	Het
Slc46a2	T	C	4: 59,914,189	T245A	probably benign	Het
Slc4a4	G	A	5: 89,215,794		probably null	Het
Spata6	T	A	4: 111,799,145	C329S	possibly damaging	Het
Srrm2	A	T	17: 23,817,751		probably benign	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Svil	T	A	18: 5,059,217		probably benign	Het
Tenm3	G	T	8: 48,235,582	S2323R	probably damaging	Het
Tsc1	G	A	2: 28,665,626	R245Q	probably damaging	Het
Ttn	A	G	2: 76,908,756	V3813A	probably benign	Het
Ttn	G	A	2: 76,950,044	T1121M	possibly damaging	Het
Ush2a	G	A	1: 188,759,795	V3094I	probably benign	Het
Vcan	A	G	13: 89,679,794		probably null	Het
Vmn1r189	A	T	13: 22,102,658	L3Q	probably damaging	Het
Vmn1r60	A	C	7: 5,544,972	V43G	probably damaging	Het
Vmn2r110	A	G	17: 20,583,263	I350T	probably benign	Het
Vmn2r86	T	A	10: 130,448,574		probably benign	Het
Xrn1	A	G	9: 95,981,761		probably benign	Het
Zfp251	C	T	15: 76,854,236	R219Q	possibly damaging	Het

Other mutations in Ftcd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01468:Ftcd	APN	10	76584587	missense	probably benign	0.03
IGL01683:Ftcd	APN	10	76580129	missense	probably damaging	1.00
IGL02478:Ftcd	APN	10	76581421	nonsense	probably null
IGL02664:Ftcd	APN	10	76584605	missense	probably damaging	0.98
IGL03077:Ftcd	APN	10	76581627	missense	probably damaging	0.99
R1771:Ftcd	UTSW	10	76587368	missense	probably damaging	0.98
R1876:Ftcd	UTSW	10	76581569	missense	probably benign	0.26
R2260:Ftcd	UTSW	10	76588059	splice site	probably null
R2386:Ftcd	UTSW	10	76581377	missense	probably damaging	1.00
R4578:Ftcd	UTSW	10	76589258	missense	probably benign
R4951:Ftcd	UTSW	10	76584683	missense	probably benign	0.15
R5479:Ftcd	UTSW	10	76578016	missense	probably benign	0.00
R5524:Ftcd	UTSW	10	76589331	utr 3 prime	probably benign
R5567:Ftcd	UTSW	10	76588133	missense	probably benign	0.20
R5655:Ftcd	UTSW	10	76588103	missense	probably damaging	1.00
R6776:Ftcd	UTSW	10	76589239	missense	probably benign	0.09
R7449:Ftcd	UTSW	10	76580163	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGTTTTGGGTAAGCCAGAGGCATC -3'
(R):5'- CTCCCGCAGGTTAAGAGCAATACG -3'

Sequencing Primer
(F):5'- GCCAGAGGCATCTGAATTGC -3'
(R):5'- CAATGAGGAACTTCCGTGC -3'

Posted On

2014-01-15