Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00504:Folh1'

5213

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Folh1

Ensembl Gene

ENSMUSG00000001773

Gene Name

folate hydrolase 1

Synonyms

GCP2, mopsm, glutamate carboxypeptidase II, prostate-specific membrane antigen

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00504

Quality Score

Status

Chromosome

Chromosomal Location

86368185-86425151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 86383351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 465 (R465S)

Ref Sequence

ENSEMBL: ENSMUSP00000001824 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001824] [ENSMUST00000107271]

AlphaFold

O35409

Predicted Effect

probably damaging
Transcript: ENSMUST00000001824
AA Change: R465S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773
AA Change: R465S

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:PA	171	264	2.5e-16	PFAM
Pfam:Peptidase_M28	359	561	1.2e-18	PFAM
Pfam:TFR_dimer	629	749	1.6e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107271
AA Change: R432S

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773
AA Change: R432S

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:PA	167	265	7e-18	PFAM
Pfam:Peptidase_M28	339	475	2.1e-15	PFAM
Pfam:TFR_dimer	595	718	1.1e-43	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in protection from peripheral neuropathy and ischemic brain injury. Homozygotes for a null allele show increased food intake, anxiety-like behavior, smaller sciatic nerve axons, and impaired angiogenesis. Homozygotes for a different null allele show less neuron degeneration and astrocyte damage after traumatic brain injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atpaf2	T	C	11: 60,296,629 (GRCm39)	D168G	probably damaging	Het
Bcorl1	T	G	X: 47,494,919 (GRCm39)	V1730G	probably damaging	Het
Cela3b	A	T	4: 137,150,592 (GRCm39)	V202E	probably damaging	Het
Col3a1	A	G	1: 45,386,295 (GRCm39)	D145G	probably damaging	Het
Cpsf6	A	T	10: 117,202,034 (GRCm39)		probably benign	Het
Dock5	A	G	14: 68,024,338 (GRCm39)		probably benign	Het
Garem1	T	A	18: 21,281,714 (GRCm39)	Q214L	probably damaging	Het
Ldb2	T	A	5: 44,699,026 (GRCm39)		probably null	Het
Lmln	A	G	16: 32,903,435 (GRCm39)	N283S	probably benign	Het
Mical2	A	G	7: 111,981,352 (GRCm39)	N508S	possibly damaging	Het
Obsl1	C	A	1: 75,467,518 (GRCm39)	G1419C	probably benign	Het
Pafah1b3	T	A	7: 24,995,614 (GRCm39)	T115S	probably benign	Het
Pcdhb5	C	A	18: 37,455,162 (GRCm39)	A514E	probably damaging	Het
Prl8a8	G	T	13: 27,693,593 (GRCm39)	T144K	probably damaging	Het
Rasgrp1	T	A	2: 117,136,272 (GRCm39)	K105*	probably null	Het
Rin1	T	C	19: 5,102,438 (GRCm39)	S316P	probably benign	Het
Serpinb3b	A	T	1: 107,085,411 (GRCm39)	F110Y	probably benign	Het
Sh3bgrl2	C	T	9: 83,459,607 (GRCm39)	P55L	probably benign	Het
Slc10a2	T	A	8: 5,141,668 (GRCm39)	S239C	probably damaging	Het
Slc10a2	C	A	8: 5,141,667 (GRCm39)	S239I	probably benign	Het
Slc6a15	T	C	10: 103,225,002 (GRCm39)	V30A	probably benign	Het
Sncaip	T	G	18: 53,018,035 (GRCm39)		probably null	Het
Tcerg1l	T	C	7: 137,811,533 (GRCm39)	R554G	probably damaging	Het
Tfap2b	A	G	1: 19,284,250 (GRCm39)	S35G	possibly damaging	Het
Tor1a	A	G	2: 30,857,202 (GRCm39)	I116T	probably damaging	Het
Tprg1l	A	G	4: 154,242,890 (GRCm39)	S188P	probably damaging	Het
Tut4	G	A	4: 108,407,925 (GRCm39)	R1398H	probably damaging	Het
Vcan	A	T	13: 89,839,394 (GRCm39)	V2050E	possibly damaging	Het
Zfp280d	T	C	9: 72,229,853 (GRCm39)	C362R	probably damaging	Het

Other mutations in Folh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00531:Folh1	APN	7	86,368,977 (GRCm39)	missense	possibly damaging	0.82
IGL00772:Folh1	APN	7	86,380,992 (GRCm39)	missense	probably damaging	1.00
IGL01339:Folh1	APN	7	86,375,306 (GRCm39)	missense	probably damaging	1.00
IGL01373:Folh1	APN	7	86,395,350 (GRCm39)	missense	probably benign	0.39
IGL01645:Folh1	APN	7	86,391,435 (GRCm39)	missense	probably damaging	1.00
IGL01736:Folh1	APN	7	86,391,444 (GRCm39)	missense	possibly damaging	0.96
IGL02104:Folh1	APN	7	86,393,638 (GRCm39)	missense	possibly damaging	0.93
IGL02124:Folh1	APN	7	86,374,626 (GRCm39)	missense	probably damaging	0.99
IGL02338:Folh1	APN	7	86,385,723 (GRCm39)	splice site	probably benign
IGL02440:Folh1	APN	7	86,383,312 (GRCm39)	missense	probably benign	0.09
IGL02689:Folh1	APN	7	86,412,253 (GRCm39)	splice site	probably null
IGL02976:Folh1	APN	7	86,412,126 (GRCm39)	missense	probably benign
IGL03022:Folh1	APN	7	86,395,379 (GRCm39)	missense	possibly damaging	0.76
R0090:Folh1	UTSW	7	86,375,076 (GRCm39)	splice site	probably benign
R0285:Folh1	UTSW	7	86,391,373 (GRCm39)	splice site	probably benign
R0482:Folh1	UTSW	7	86,395,309 (GRCm39)	splice site	probably benign
R0492:Folh1	UTSW	7	86,395,400 (GRCm39)	missense	probably damaging	1.00
R1079:Folh1	UTSW	7	86,421,089 (GRCm39)	missense	probably damaging	1.00
R1148:Folh1	UTSW	7	86,410,938 (GRCm39)	missense	probably damaging	1.00
R1148:Folh1	UTSW	7	86,410,938 (GRCm39)	missense	probably damaging	1.00
R1493:Folh1	UTSW	7	86,410,938 (GRCm39)	missense	probably damaging	1.00
R1778:Folh1	UTSW	7	86,410,907 (GRCm39)	critical splice donor site	probably null
R1865:Folh1	UTSW	7	86,375,114 (GRCm39)	missense	possibly damaging	0.65
R1878:Folh1	UTSW	7	86,420,950 (GRCm39)	missense	probably benign
R1906:Folh1	UTSW	7	86,391,374 (GRCm39)	splice site	probably null
R1912:Folh1	UTSW	7	86,412,175 (GRCm39)	missense	possibly damaging	0.95
R2263:Folh1	UTSW	7	86,368,973 (GRCm39)	missense	probably benign
R3001:Folh1	UTSW	7	86,372,519 (GRCm39)	missense	probably damaging	1.00
R3002:Folh1	UTSW	7	86,372,519 (GRCm39)	missense	probably damaging	1.00
R3883:Folh1	UTSW	7	86,424,864 (GRCm39)	missense	possibly damaging	0.48
R4061:Folh1	UTSW	7	86,406,170 (GRCm39)	missense	possibly damaging	0.49
R4277:Folh1	UTSW	7	86,412,123 (GRCm39)	critical splice donor site	probably null
R4507:Folh1	UTSW	7	86,406,216 (GRCm39)	missense	probably benign
R4627:Folh1	UTSW	7	86,422,460 (GRCm39)	missense	probably benign	0.00
R4652:Folh1	UTSW	7	86,393,633 (GRCm39)	nonsense	probably null
R4653:Folh1	UTSW	7	86,393,633 (GRCm39)	nonsense	probably null
R4745:Folh1	UTSW	7	86,372,482 (GRCm39)	critical splice donor site	probably null
R5571:Folh1	UTSW	7	86,383,328 (GRCm39)	missense	probably damaging	1.00
R6000:Folh1	UTSW	7	86,375,142 (GRCm39)	missense	probably benign	0.01
R6307:Folh1	UTSW	7	86,372,517 (GRCm39)	missense	probably damaging	1.00
R6474:Folh1	UTSW	7	86,424,964 (GRCm39)	missense	probably damaging	0.99
R7112:Folh1	UTSW	7	86,424,845 (GRCm39)	critical splice donor site	probably null
R7131:Folh1	UTSW	7	86,375,320 (GRCm39)	missense	probably damaging	1.00
R7449:Folh1	UTSW	7	86,380,956 (GRCm39)	missense	probably benign	0.00
R7494:Folh1	UTSW	7	86,368,907 (GRCm39)	missense	probably damaging	1.00
R7539:Folh1	UTSW	7	86,375,117 (GRCm39)	missense	probably benign	0.35
R7764:Folh1	UTSW	7	86,412,126 (GRCm39)	missense	probably benign
R7803:Folh1	UTSW	7	86,375,306 (GRCm39)	missense	probably damaging	1.00
R8105:Folh1	UTSW	7	86,395,354 (GRCm39)	missense	probably damaging	1.00
R8208:Folh1	UTSW	7	86,375,125 (GRCm39)	missense	probably damaging	0.98
R8347:Folh1	UTSW	7	86,378,326 (GRCm39)	nonsense	probably null
R9130:Folh1	UTSW	7	86,368,913 (GRCm39)	missense	probably benign	0.12
R9749:Folh1	UTSW	7	86,368,908 (GRCm39)	missense	probably damaging	1.00
R9764:Folh1	UTSW	7	86,406,158 (GRCm39)	missense	probably benign	0.03
RF007:Folh1	UTSW	7	86,424,895 (GRCm39)	missense	probably benign
Z1088:Folh1	UTSW	7	86,375,162 (GRCm39)	missense	probably benign	0.00
Z1177:Folh1	UTSW	7	86,411,030 (GRCm39)	missense	probably benign	0.00
Z1177:Folh1	UTSW	7	86,393,655 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20