Incidental Mutation 'IGL03022:Folh1'
| ID |
408015 |
| 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)
|
| Stock # |
IGL03022
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
86368185-86425151 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86395379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 351
(Y351C)
|
| 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: Y351C
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773
AA Change: Y351C
| 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 |
possibly damaging
Transcript: ENSMUST00000107271
AA Change: Y318C
PolyPhen 2
Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773
AA Change: Y318C
| 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 |
|---|
| Acvr2b |
G |
T |
9: 119,256,587 (GRCm39) |
R40L |
probably benign |
Het |
| Asph |
T |
C |
4: 9,517,668 (GRCm39) |
N402D |
possibly damaging |
Het |
| Brip1 |
T |
C |
11: 85,968,776 (GRCm39) |
Y803C |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,170,234 (GRCm39) |
|
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,859,714 (GRCm39) |
T85A |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,448 (GRCm39) |
M289V |
probably benign |
Het |
| Fam193b |
T |
C |
13: 55,691,475 (GRCm39) |
N429S |
probably damaging |
Het |
| Fryl |
G |
A |
5: 73,216,726 (GRCm39) |
A2188V |
possibly damaging |
Het |
| Gtf2f1 |
C |
T |
17: 57,317,971 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
T |
C |
3: 82,016,404 (GRCm39) |
K195E |
probably benign |
Het |
| H2-Oa |
T |
C |
17: 34,313,023 (GRCm39) |
V100A |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,427,614 (GRCm39) |
K310N |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,825,439 (GRCm39) |
S254P |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,566,761 (GRCm39) |
S516P |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,645,225 (GRCm39) |
D1139G |
probably damaging |
Het |
| Nxpe4 |
T |
C |
9: 48,304,548 (GRCm39) |
S212P |
probably damaging |
Het |
| Or1ab2 |
A |
C |
8: 72,863,968 (GRCm39) |
K186T |
probably damaging |
Het |
| Or5d47 |
C |
T |
2: 87,804,341 (GRCm39) |
V223I |
probably benign |
Het |
| Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
| Parp2 |
T |
C |
14: 51,058,553 (GRCm39) |
Y528H |
probably damaging |
Het |
| Pdgfd |
T |
C |
9: 6,288,495 (GRCm39) |
Y50H |
probably damaging |
Het |
| Prkaca |
A |
G |
8: 84,721,976 (GRCm39) |
D329G |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,858,559 (GRCm39) |
|
probably benign |
Het |
| Sele |
A |
G |
1: 163,882,248 (GRCm39) |
T578A |
probably benign |
Het |
| Shroom2 |
A |
G |
X: 151,443,089 (GRCm39) |
V692A |
probably benign |
Het |
| Stxbp3 |
G |
A |
3: 108,708,072 (GRCm39) |
L410F |
probably damaging |
Het |
| Tcaf1 |
C |
A |
6: 42,655,060 (GRCm39) |
G553* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,576,862 (GRCm39) |
T24677M |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,755,967 (GRCm39) |
L13H |
probably damaging |
Het |
| Zfp106 |
C |
A |
2: 120,359,120 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
A |
G |
11: 73,973,800 (GRCm39) |
D23G |
possibly damaging |
Het |
| Zfp84 |
T |
C |
7: 29,474,759 (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 |
|
IGL02689:Folh1
|
APN |
7 |
86,412,253 (GRCm39) |
splice site |
probably null |
|
|
IGL02976:Folh1
|
APN |
7 |
86,412,126 (GRCm39) |
missense |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation