Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00432:Gchfr'

7078

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gchfr

Ensembl Gene

ENSMUSG00000046814

Gene Name

GTP cyclohydrolase I feedback regulator

Synonyms

2010323F13Rik, P35

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.282) question?

Stock #

IGL00432

Quality Score

Status

Chromosome

Chromosomal Location

118998269-119002870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119000229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 37 (R37G)

Ref Sequence

ENSEMBL: ENSMUSP00000060835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038439] [ENSMUST00000057454] [ENSMUST00000069711]

AlphaFold

P99025

Predicted Effect

probably benign
Transcript: ENSMUST00000038439

SMART Domains

Protein: ENSMUSP00000041841
Gene: ENSMUSG00000034278

Domain	Start	End	E-Value	Type
DnaJ	10	68	3.66e-21	SMART
coiled coil region	112	151	N/A	INTRINSIC
low complexity region	172	181	N/A	INTRINSIC
Pfam:RRM_1	187	243	1.8e-6	PFAM
Pfam:RRM_5	194	246	1.7e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000057454
AA Change: R37G

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

SMART Domains

Protein: ENSMUSP00000060835
Gene: ENSMUSG00000046814
AA Change: R37G

Domain	Start	End	E-Value	Type
Pfam:GFRP	2	84	2.8e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000069711

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated that GCHFR may play a role in regulating phenylalanine metabolism in the liver and in the production of biogenic amine neurotransmitters and nitric oxide. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	T	1: 130,670,573 (GRCm39)	Q265L	possibly damaging	Het
Akr1c18	T	A	13: 4,187,232 (GRCm39)	H168L	probably damaging	Het
Arid3b	A	G	9: 57,741,207 (GRCm39)	S80P	possibly damaging	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Brd1	A	C	15: 88,614,361 (GRCm39)	V178G	probably benign	Het
Brd2	C	T	17: 34,333,397 (GRCm39)	R26Q	probably damaging	Het
Ddr2	T	C	1: 169,825,527 (GRCm39)	M358V	probably benign	Het
Dnajc14	A	G	10: 128,642,201 (GRCm39)	D41G	probably damaging	Het
Erap1	T	G	13: 74,821,778 (GRCm39)	V711G	probably benign	Het
Gm20518	T	A	16: 17,676,362 (GRCm39)	N136I	probably damaging	Het
Grm6	A	T	11: 50,754,124 (GRCm39)		probably benign	Het
Hydin	T	A	8: 111,327,884 (GRCm39)	V4797E	probably damaging	Het
Iws1	C	A	18: 32,217,741 (GRCm39)	N448K	probably benign	Het
Lin7c	T	C	2: 109,726,798 (GRCm39)		probably benign	Het
Lrrc40	T	A	3: 157,754,087 (GRCm39)	L196Q	probably damaging	Het
Lrrtm2	C	T	18: 35,346,321 (GRCm39)	G327D	probably benign	Het
Masp1	C	T	16: 23,332,601 (GRCm39)	C78Y	probably damaging	Het
Mmd	C	T	11: 90,155,360 (GRCm39)	R101W	probably damaging	Het
Myo1d	A	G	11: 80,492,566 (GRCm39)	Y730H	probably benign	Het
Pcdh15	A	G	10: 74,126,914 (GRCm39)		probably benign	Het
Pglyrp4	G	A	3: 90,646,335 (GRCm39)	V290M	probably damaging	Het
Plxna2	G	A	1: 194,326,404 (GRCm39)	V113I	probably benign	Het
Prkch	T	A	12: 73,749,363 (GRCm39)		probably benign	Het
Rabgef1	G	T	5: 130,237,565 (GRCm39)	E213*	probably null	Het
Rdh16f2	T	A	10: 127,702,533 (GRCm39)	C37S	probably damaging	Het
Reln	A	G	5: 22,215,125 (GRCm39)	Y1109H	probably damaging	Het
Scn7a	A	T	2: 66,572,326 (GRCm39)	L215*	probably null	Het
Slc25a33	A	T	4: 149,829,376 (GRCm39)	L261H	probably damaging	Het
Slc28a3	A	T	13: 58,717,225 (GRCm39)		probably null	Het
Slc38a6	T	C	12: 73,398,577 (GRCm39)	I369T	probably benign	Het
Tgm4	A	T	9: 122,891,447 (GRCm39)		probably benign	Het
Tnr	A	G	1: 159,688,815 (GRCm39)	I426V	probably benign	Het
Vmn1r216	A	G	13: 23,283,574 (GRCm39)	I86V	probably benign	Het
Wwc1	G	A	11: 35,735,029 (GRCm39)	P949S	possibly damaging	Het
Zfp326	A	T	5: 106,044,399 (GRCm39)	I286F	probably damaging	Het

Other mutations in Gchfr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0360:Gchfr	UTSW	2	118,998,327 (GRCm39)	nonsense	probably null
R1579:Gchfr	UTSW	2	119,002,502 (GRCm39)	missense	possibly damaging	0.89
R5559:Gchfr	UTSW	2	119,000,187 (GRCm39)	missense	probably benign
R7031:Gchfr	UTSW	2	119,000,236 (GRCm39)	missense	probably benign	0.38
Z1177:Gchfr	UTSW	2	119,000,226 (GRCm39)	nonsense	probably null

Posted On

2012-04-20