Mutagenetix > Incidental Mutation

Incidental Mutation 'R9207:Ftcd'

698591

Institutional Source

Beutler Lab

Gene Symbol

Ftcd

Ensembl Gene

ENSMUSG00000001155

Gene Name

formiminotransferase cyclodeaminase

Synonyms

glutamate formiminotransferase

MMRRC Submission

068981-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

R9207 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76411482-76426172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76422973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 423 (I423L)

Ref Sequence

ENSEMBL: ENSMUSP00000001183 (fasta)

Gene Model

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

AlphaFold

Q91XD4

Predicted Effect

probably benign
Transcript: ENSMUST00000001183
AA Change: I423L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000001183
Gene: ENSMUSG00000001155
AA Change: I423L

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (43/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,979,657 (GRCm39)	I173S	probably damaging	Het
Actrt2	T	A	4: 154,751,920 (GRCm39)	H72L	probably benign	Het
Adgrf1	A	G	17: 43,621,164 (GRCm39)	D467G	probably benign	Het
Axdnd1	A	G	1: 156,215,616 (GRCm39)	L226P		Het
Begain	T	C	12: 108,999,250 (GRCm39)	D507G	probably damaging	Het
Bsdc1	A	G	4: 129,362,830 (GRCm39)	N134S	probably benign	Het
Ccdc39	C	A	3: 33,886,706 (GRCm39)	E301*	probably null	Het
Cdh23	A	G	10: 60,243,210 (GRCm39)	V1055A	probably damaging	Het
Efcab8	A	G	2: 153,656,339 (GRCm39)	D591G	unknown	Het
Fibcd1	G	A	2: 31,706,455 (GRCm39)	R459C	probably damaging	Het
Frem3	T	G	8: 81,340,071 (GRCm39)	V788G	possibly damaging	Het
Gad1	G	A	2: 70,409,546 (GRCm39)		probably null	Het
Gm8229	T	C	14: 44,606,238 (GRCm39)	L156P		Het
Grm7	T	C	6: 111,335,874 (GRCm39)	Y762H	probably damaging	Het
Hectd4	T	A	5: 121,433,496 (GRCm39)	V937D	possibly damaging	Het
Ifnz	T	C	4: 88,701,525 (GRCm39)	V168A	probably benign	Het
Irx4	C	G	13: 73,416,649 (GRCm39)	C348W	probably damaging	Het
Itgb4	G	T	11: 115,897,923 (GRCm39)	G1603V	probably damaging	Het
Krt32	A	G	11: 99,977,580 (GRCm39)	V162A	possibly damaging	Het
Mpped2	A	G	2: 106,697,319 (GRCm39)	T265A	probably benign	Het
Npas3	T	C	12: 54,114,818 (GRCm39)	L580P	possibly damaging	Het
Or4f47	G	A	2: 111,972,397 (GRCm39)	V36M	probably benign	Het
Or5b109	A	T	19: 13,212,400 (GRCm39)	Q262L	possibly damaging	Het
Or8b54	G	A	9: 38,686,960 (GRCm39)	M136I	possibly damaging	Het
Plec	A	G	15: 76,058,117 (GRCm39)	L3940P	probably damaging	Het
Pum2	T	C	12: 8,763,904 (GRCm39)	Y283H	probably damaging	Het
Rad54l	T	C	4: 115,967,215 (GRCm39)	H281R	probably damaging	Het
Rftn2	T	A	1: 55,224,149 (GRCm39)	Q397L	probably damaging	Het
Rnf166	C	T	8: 123,195,068 (GRCm39)	A151T	probably benign	Het
Setdb1	A	T	3: 95,246,113 (GRCm39)	I604N	possibly damaging	Het
Smr2	A	G	5: 88,256,726 (GRCm39)	T135A	unknown	Het
Snai2	C	A	16: 14,524,946 (GRCm39)	H151N	possibly damaging	Het
Spag6l	A	T	16: 16,598,492 (GRCm39)	I333N	probably benign	Het
Spta1	A	G	1: 174,039,139 (GRCm39)	T1161A	probably benign	Het
Sult2a1	G	T	7: 13,566,627 (GRCm39)	A116E	probably benign	Het
Tas2r120	T	A	6: 132,634,626 (GRCm39)	L236*	probably null	Het
Tchhl1	T	A	3: 93,377,819 (GRCm39)	N174K	possibly damaging	Het
Tex15	T	C	8: 34,065,784 (GRCm39)	L1738P	probably damaging	Het
Timp4	T	C	6: 115,224,270 (GRCm39)	Y133C	probably damaging	Het
Tmem25	A	G	9: 44,710,476 (GRCm39)		probably null	Het
Tubd1	A	T	11: 86,456,537 (GRCm39)	T399S	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Zfp110	A	T	7: 12,582,485 (GRCm39)	I378L	probably benign	Het

Other mutations in Ftcd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01468:Ftcd	APN	10	76,420,421 (GRCm39)	missense	probably benign	0.03
IGL01683:Ftcd	APN	10	76,415,963 (GRCm39)	missense	probably damaging	1.00
IGL02478:Ftcd	APN	10	76,417,255 (GRCm39)	nonsense	probably null
IGL02664:Ftcd	APN	10	76,420,439 (GRCm39)	missense	probably damaging	0.98
IGL03077:Ftcd	APN	10	76,417,461 (GRCm39)	missense	probably damaging	0.99
R1199:Ftcd	UTSW	10	76,415,653 (GRCm39)	missense	probably damaging	1.00
R1771:Ftcd	UTSW	10	76,423,202 (GRCm39)	missense	probably damaging	0.98
R1876:Ftcd	UTSW	10	76,417,403 (GRCm39)	missense	probably benign	0.26
R2260:Ftcd	UTSW	10	76,423,893 (GRCm39)	splice site	probably null
R2386:Ftcd	UTSW	10	76,417,211 (GRCm39)	missense	probably damaging	1.00
R4578:Ftcd	UTSW	10	76,425,092 (GRCm39)	missense	probably benign
R4951:Ftcd	UTSW	10	76,420,517 (GRCm39)	missense	probably benign	0.15
R5479:Ftcd	UTSW	10	76,413,850 (GRCm39)	missense	probably benign	0.00
R5524:Ftcd	UTSW	10	76,425,165 (GRCm39)	utr 3 prime	probably benign
R5567:Ftcd	UTSW	10	76,423,967 (GRCm39)	missense	probably benign	0.20
R5655:Ftcd	UTSW	10	76,423,937 (GRCm39)	missense	probably damaging	1.00
R6776:Ftcd	UTSW	10	76,425,073 (GRCm39)	missense	probably benign	0.09
R7449:Ftcd	UTSW	10	76,415,997 (GRCm39)	missense	probably benign	0.02
R8183:Ftcd	UTSW	10	76,411,541 (GRCm39)	start codon destroyed	probably null	1.00
R8250:Ftcd	UTSW	10	76,417,461 (GRCm39)	missense	probably damaging	1.00
R8284:Ftcd	UTSW	10	76,413,893 (GRCm39)	missense	probably benign	0.25
R9023:Ftcd	UTSW	10	76,417,413 (GRCm39)	missense	probably damaging	1.00
R9417:Ftcd	UTSW	10	76,417,153 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGGCCTGTAGCACACGATG -3'
(R):5'- ACACAGTCTCGGCCAGTTTC -3'

Sequencing Primer
(F):5'- CACACGATGTACATGCTGTG -3'
(R):5'- AGTTTCAGTGGCACAGCGAC -3'

Posted On

2022-02-07