Incidental Mutation 'IGL02440:Folh1'
| ID |
293430 |
| 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 # |
IGL02440
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
86368185-86425151 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86383312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 478
(N478K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001824]
[ENSMUST00000107271]
|
| AlphaFold |
O35409 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001824
AA Change: N478K
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773
AA Change: N478K
| 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: N445K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773
AA Change: N445K
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
A |
G |
5: 67,824,777 (GRCm39) |
|
probably benign |
Het |
| Bmt2 |
C |
T |
6: 13,628,609 (GRCm39) |
R358Q |
probably damaging |
Het |
| C2cd6 |
A |
G |
1: 59,114,259 (GRCm39) |
I182T |
probably benign |
Het |
| Calr3 |
T |
C |
8: 73,185,276 (GRCm39) |
T100A |
probably benign |
Het |
| Cln3 |
T |
C |
7: 126,181,954 (GRCm39) |
K36R |
probably benign |
Het |
| Ddx25 |
C |
T |
9: 35,468,974 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,313,899 (GRCm39) |
V1677E |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,850,883 (GRCm39) |
E1684G |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,846,072 (GRCm39) |
S2989P |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,034,635 (GRCm39) |
T1845S |
possibly damaging |
Het |
| Gpr22 |
T |
C |
12: 31,759,139 (GRCm39) |
I328V |
probably damaging |
Het |
| Itln1 |
C |
T |
1: 171,359,097 (GRCm39) |
A128T |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,861,713 (GRCm39) |
T97A |
possibly damaging |
Het |
| Kank1 |
A |
G |
19: 25,410,272 (GRCm39) |
K1322R |
probably damaging |
Het |
| Klhdc2 |
A |
G |
12: 69,350,414 (GRCm39) |
Y153C |
probably damaging |
Het |
| Lonp2 |
T |
A |
8: 87,350,813 (GRCm39) |
M1K |
probably null |
Het |
| Mtor |
T |
A |
4: 148,630,886 (GRCm39) |
M2281K |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,576,104 (GRCm39) |
N1378K |
probably benign |
Het |
| Myo1e |
G |
A |
9: 70,254,022 (GRCm39) |
R557H |
probably damaging |
Het |
| Nedd4l |
T |
C |
18: 65,296,244 (GRCm39) |
|
probably null |
Het |
| Or2r3 |
T |
C |
6: 42,449,100 (GRCm39) |
D4G |
probably benign |
Het |
| Or2t46 |
A |
T |
11: 58,472,035 (GRCm39) |
M122L |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,854,374 (GRCm39) |
F257I |
probably damaging |
Het |
| Or9i16 |
A |
T |
19: 13,865,223 (GRCm39) |
M117K |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,699,052 (GRCm39) |
|
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,626,700 (GRCm39) |
T582A |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,428,458 (GRCm39) |
E509D |
probably benign |
Het |
| Poln |
A |
T |
5: 34,286,474 (GRCm39) |
D231E |
probably damaging |
Het |
| Prex2 |
G |
A |
1: 11,223,881 (GRCm39) |
R735Q |
possibly damaging |
Het |
| Prpf40b |
T |
C |
15: 99,204,747 (GRCm39) |
S263P |
probably damaging |
Het |
| Sfmbt2 |
C |
T |
2: 10,573,194 (GRCm39) |
A574V |
probably damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,058,310 (GRCm39) |
I152T |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Svep1 |
T |
C |
4: 58,145,293 (GRCm39) |
I391V |
probably benign |
Het |
| Tbx4 |
A |
G |
11: 85,781,720 (GRCm39) |
E80G |
probably damaging |
Het |
| Vmn2r22 |
A |
G |
6: 123,614,364 (GRCm39) |
Y409H |
probably benign |
Het |
| Zfp691 |
T |
G |
4: 119,027,493 (GRCm39) |
R246S |
probably damaging |
Het |
| Zfp846 |
T |
C |
9: 20,499,796 (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 |
|
|
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 |
2015-04-16 |
Incidental Mutation