Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02104:Folh1'

279902

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Folh1

Ensembl Gene

ENSMUSG00000001773

Gene Name

folate hydrolase 1

Synonyms

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02104

Quality Score

Status

Chromosome

Chromosomal Location

86718977-86775943 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86744430 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 391 (Q391R)

Ref Sequence

ENSEMBL: ENSMUSP00000001824 (fasta)

Gene Model

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

AlphaFold

O35409

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001824
AA Change: Q391R

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773
AA Change: Q391R

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: Q358R

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773
AA Change: Q358R

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	C	7: 125,331,542		noncoding transcript	Het
Abcb5	T	A	12: 118,940,680	Q125L	probably damaging	Het
Acap3	G	A	4: 155,905,085	R662H	probably damaging	Het
Aox4	T	A	1: 58,236,657		probably benign	Het
Aqp6	T	C	15: 99,604,278	S285P	probably benign	Het
Arhgef5	A	T	6: 43,272,411	Q32L	probably damaging	Het
B3gnt6	G	T	7: 98,194,101	D217E	probably damaging	Het
Chd6	T	C	2: 160,977,512	I1338V	probably benign	Het
Clic6	A	G	16: 92,498,479	E9G	possibly damaging	Het
Col11a1	T	A	3: 114,181,397		probably null	Het
Dcdc2b	T	A	4: 129,611,074	D88V	probably benign	Het
Dis3l	T	A	9: 64,310,329	K791N	possibly damaging	Het
Dmxl2	A	T	9: 54,404,015	Y1008*	probably null	Het
Dnah11	A	G	12: 118,192,390	V175A	probably benign	Het
Efl1	A	G	7: 82,658,055		probably null	Het
Fam117b	C	T	1: 59,949,119	T219I	probably benign	Het
Fgf21	T	A	7: 45,615,224	Q28L	probably benign	Het
Gars	A	G	6: 55,077,697	D663G	probably damaging	Het
Lats2	A	G	14: 57,734,012	F69L	probably damaging	Het
Lrp2	C	T	2: 69,510,418	V1038M	probably damaging	Het
Map3k1	A	T	13: 111,756,243	V826E	probably damaging	Het
Mapkap1	T	A	2: 34,623,470	Y497*	probably null	Het
Mast3	T	C	8: 70,787,906	I296V	possibly damaging	Het
Mon1a	T	G	9: 107,901,615	L346R	probably damaging	Het
Mphosph8	T	C	14: 56,674,579	L353S	probably benign	Het
Muc5ac	T	C	7: 141,811,078	Y2634H	probably damaging	Het
Mylk	A	G	16: 34,815,435	T9A	probably benign	Het
Olfr1031	G	T	2: 85,992,386	D190Y	probably damaging	Het
Olfr1440	T	A	19: 12,394,899	V212D	probably damaging	Het
Olfr1484	T	A	19: 13,585,604	M57K	probably damaging	Het
Olfr418	T	C	1: 173,271,036	V287A	probably damaging	Het
Olfr543	C	A	7: 102,477,337	V178F	probably damaging	Het
Olfr761	A	C	17: 37,952,291	H244Q	probably damaging	Het
Olfr843	A	T	9: 19,248,870	H176Q	probably benign	Het
Pabpc2	A	C	18: 39,774,883	Q400H	possibly damaging	Het
Pigg	A	G	5: 108,342,097	Y856C	probably damaging	Het
Plekhn1	A	T	4: 156,222,408	V508E	probably benign	Het
Pom121l2	C	A	13: 21,982,275	H239N	possibly damaging	Het
Prdm2	A	G	4: 143,133,427	S1098P	probably benign	Het
Rnf212	A	G	5: 108,747,440	I41T	possibly damaging	Het
Rngtt	A	G	4: 33,320,517		probably null	Het
Rpn2	C	T	2: 157,321,827	T613M	probably damaging	Het
Scd4	G	T	19: 44,344,747	V304F	possibly damaging	Het
Sez6l	A	G	5: 112,426,764		probably benign	Het
Shroom3	A	G	5: 92,940,389	R158G	probably benign	Het
Stil	T	C	4: 115,041,482	L1103P	probably damaging	Het
Tanc2	T	C	11: 105,780,133		probably benign	Het
Tmc1	C	T	19: 20,832,454	D255N	probably benign	Het
Trank1	C	A	9: 111,390,712	D2172E	possibly damaging	Het
Tyro3	G	A	2: 119,813,200	R718H	probably damaging	Het
Vamp2	C	A	11: 69,090,657	F114L	probably benign	Het
Wdr66	T	A	5: 123,302,698	L1106*	probably null	Het

Other mutations in Folh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Folh1	APN	7	86734143	missense	probably damaging	1.00
IGL00531:Folh1	APN	7	86719769	missense	possibly damaging	0.82
IGL00772:Folh1	APN	7	86731784	missense	probably damaging	1.00
IGL01339:Folh1	APN	7	86726098	missense	probably damaging	1.00
IGL01373:Folh1	APN	7	86746142	missense	probably benign	0.39
IGL01645:Folh1	APN	7	86742227	missense	probably damaging	1.00
IGL01736:Folh1	APN	7	86742236	missense	possibly damaging	0.96
IGL02124:Folh1	APN	7	86725418	missense	probably damaging	0.99
IGL02338:Folh1	APN	7	86736515	splice site	probably benign
IGL02440:Folh1	APN	7	86734104	missense	probably benign	0.09
IGL02689:Folh1	APN	7	86763045	splice site	probably null
IGL02976:Folh1	APN	7	86762918	missense	probably benign
IGL03022:Folh1	APN	7	86746171	missense	possibly damaging	0.76
R0090:Folh1	UTSW	7	86725868	splice site	probably benign
R0285:Folh1	UTSW	7	86742165	splice site	probably benign
R0482:Folh1	UTSW	7	86746101	splice site	probably benign
R0492:Folh1	UTSW	7	86746192	missense	probably damaging	1.00
R1079:Folh1	UTSW	7	86771881	missense	probably damaging	1.00
R1148:Folh1	UTSW	7	86761730	missense	probably damaging	1.00
R1148:Folh1	UTSW	7	86761730	missense	probably damaging	1.00
R1493:Folh1	UTSW	7	86761730	missense	probably damaging	1.00
R1778:Folh1	UTSW	7	86761699	critical splice donor site	probably null
R1865:Folh1	UTSW	7	86725906	missense	possibly damaging	0.65
R1878:Folh1	UTSW	7	86771742	missense	probably benign
R1906:Folh1	UTSW	7	86742166	splice site	probably null
R1912:Folh1	UTSW	7	86762967	missense	possibly damaging	0.95
R2263:Folh1	UTSW	7	86719765	missense	probably benign
R3001:Folh1	UTSW	7	86723311	missense	probably damaging	1.00
R3002:Folh1	UTSW	7	86723311	missense	probably damaging	1.00
R3883:Folh1	UTSW	7	86775656	missense	possibly damaging	0.48
R4061:Folh1	UTSW	7	86756962	missense	possibly damaging	0.49
R4277:Folh1	UTSW	7	86762915	critical splice donor site	probably null
R4507:Folh1	UTSW	7	86757008	missense	probably benign
R4627:Folh1	UTSW	7	86773252	missense	probably benign	0.00
R4652:Folh1	UTSW	7	86744425	nonsense	probably null
R4653:Folh1	UTSW	7	86744425	nonsense	probably null
R4745:Folh1	UTSW	7	86723274	critical splice donor site	probably null
R5571:Folh1	UTSW	7	86734120	missense	probably damaging	1.00
R6000:Folh1	UTSW	7	86725934	missense	probably benign	0.01
R6307:Folh1	UTSW	7	86723309	missense	probably damaging	1.00
R6474:Folh1	UTSW	7	86775756	missense	probably damaging	0.99
R7112:Folh1	UTSW	7	86775637	critical splice donor site	probably null
R7131:Folh1	UTSW	7	86726112	missense	probably damaging	1.00
R7449:Folh1	UTSW	7	86731748	missense	probably benign	0.00
R7494:Folh1	UTSW	7	86719699	missense	probably damaging	1.00
R7539:Folh1	UTSW	7	86725909	missense	probably benign	0.35
R7764:Folh1	UTSW	7	86762918	missense	probably benign
R7803:Folh1	UTSW	7	86726098	missense	probably damaging	1.00
R8105:Folh1	UTSW	7	86746146	missense	probably damaging	1.00
R8208:Folh1	UTSW	7	86725917	missense	probably damaging	0.98
R8347:Folh1	UTSW	7	86729118	nonsense	probably null
R9130:Folh1	UTSW	7	86719705	missense	probably benign	0.12
R9749:Folh1	UTSW	7	86719700	missense	probably damaging	1.00
R9764:Folh1	UTSW	7	86756950	missense	probably benign	0.03
RF007:Folh1	UTSW	7	86775687	missense	probably benign
Z1088:Folh1	UTSW	7	86725954	missense	probably benign	0.00
Z1177:Folh1	UTSW	7	86744447	missense	probably damaging	1.00
Z1177:Folh1	UTSW	7	86761822	missense	probably benign	0.00

Posted On

2015-04-16