Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02689:Folh1'

303675

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 #

IGL02689

Quality Score

Status

Chromosome

Chromosomal Location

86368185-86425151 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 86412253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102892 (fasta)

Gene Model

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

AlphaFold

O35409

Predicted Effect

probably null
Transcript: ENSMUST00000001824

SMART Domains

Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773

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 null
Transcript: ENSMUST00000107271

SMART Domains

Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209082

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	G	T	4: 86,835,692 (GRCm39)	A235S	probably benign	Het
Add2	A	G	6: 86,084,388 (GRCm39)	I479V	possibly damaging	Het
Anapc11	T	A	11: 120,490,168 (GRCm39)	M28K	probably benign	Het
Anapc15-ps	T	C	10: 95,508,993 (GRCm39)	S87G	probably benign	Het
Atraid	T	C	5: 31,209,826 (GRCm39)	L46P	probably damaging	Het
Ccdc80	T	A	16: 44,916,772 (GRCm39)	Y509*	probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cecr2	T	A	6: 120,739,128 (GRCm39)	L1257Q	probably damaging	Het
Csn1s2b	A	G	5: 87,957,780 (GRCm39)	I5V	probably benign	Het
Dhps	T	C	8: 85,800,379 (GRCm39)	Y221H	possibly damaging	Het
Dmxl1	T	C	18: 49,997,962 (GRCm39)	S717P	probably damaging	Het
Dppa5a	G	T	9: 78,275,113 (GRCm39)	S63Y	probably damaging	Het
Eif3l	A	T	15: 78,970,719 (GRCm39)	D331V	possibly damaging	Het
Gbp9	G	T	5: 105,253,662 (GRCm39)	Q18K	probably benign	Het
Grm5	A	G	7: 87,251,918 (GRCm39)	K56R	probably damaging	Het
H2-M3	T	A	17: 37,581,432 (GRCm39)	Y31*	probably null	Het
Herc2	T	C	7: 55,815,031 (GRCm39)		probably benign	Het
Itga7	G	T	10: 128,782,687 (GRCm39)	A675S	possibly damaging	Het
Lipo5	G	A	19: 33,445,186 (GRCm39)	H128Y	unknown	Het
Or2bd2	T	C	7: 6,443,574 (GRCm39)	L225P	possibly damaging	Het
Or5b121	A	G	19: 13,507,171 (GRCm39)	I89V	probably benign	Het
Pdk4	C	T	6: 5,487,408 (GRCm39)	V281I	probably benign	Het
Pkn3	G	A	2: 29,970,858 (GRCm39)	G202D	probably damaging	Het
Rcbtb1	A	G	14: 59,462,149 (GRCm39)	N260S	probably damaging	Het
Sipa1l1	T	C	12: 82,487,594 (GRCm39)	F1623L	probably benign	Het
Slfn8	A	G	11: 82,907,934 (GRCm39)	F203S	probably damaging	Het
St6gal2	T	C	17: 55,789,596 (GRCm39)	L210S	probably damaging	Het
Taf5	T	C	19: 47,065,704 (GRCm39)		probably benign	Het
Taok2	A	G	7: 126,475,270 (GRCm39)	F226S	probably damaging	Het
Timm10b	A	G	7: 105,289,839 (GRCm39)		probably benign	Het
Tmx3	A	G	18: 90,555,240 (GRCm39)	N319S	possibly damaging	Het
Trmt1	G	T	8: 85,426,385 (GRCm39)		probably benign	Het

Other mutations in Folh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Folh1	APN	7	86,383,351 (GRCm39)	missense	probably damaging	1.00
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
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

2015-04-16