Incidental Mutation 'IGL02124:Folh1'
| ID |
280781 |
| 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 # |
IGL02124
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
86368185-86425151 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86374626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 656
(D656G)
|
| 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: D656G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773
AA Change: D656G
| 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: D623G
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773
AA Change: D623G
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
T |
C |
2: 127,028,654 (GRCm39) |
R182G |
possibly damaging |
Het |
| Casd1 |
A |
T |
6: 4,624,142 (GRCm39) |
I312F |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,413,557 (GRCm39) |
T395A |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,405,381 (GRCm39) |
I1717T |
probably benign |
Het |
| Ces1f |
A |
T |
8: 93,992,488 (GRCm39) |
V321E |
possibly damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,886,832 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,327,099 (GRCm39) |
F1416L |
unknown |
Het |
| Cplx4 |
T |
C |
18: 66,103,123 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
T |
2: 13,386,648 (GRCm39) |
I1539N |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,878,696 (GRCm39) |
T562A |
probably benign |
Het |
| Dnmt1 |
C |
A |
9: 20,819,845 (GRCm39) |
V1433F |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,680,251 (GRCm39) |
L436P |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,117,841 (GRCm39) |
I783V |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,942,553 (GRCm39) |
V482E |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,734,927 (GRCm39) |
E400V |
probably benign |
Het |
| Frem3 |
A |
C |
8: 81,339,723 (GRCm39) |
D672A |
probably damaging |
Het |
| G3bp2 |
A |
G |
5: 92,221,106 (GRCm39) |
M3T |
possibly damaging |
Het |
| Gm973 |
C |
T |
1: 59,621,632 (GRCm39) |
Q26* |
probably null |
Het |
| Hsp90b1 |
T |
C |
10: 86,541,222 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,246,125 (GRCm39) |
|
probably null |
Het |
| Lpin3 |
T |
C |
2: 160,737,753 (GRCm39) |
|
probably null |
Het |
| Mtss2 |
G |
A |
8: 111,464,256 (GRCm39) |
R295Q |
probably damaging |
Het |
| Muc5b |
G |
T |
7: 141,409,369 (GRCm39) |
W1151L |
unknown |
Het |
| Myo3a |
A |
G |
2: 22,467,538 (GRCm39) |
Y264C |
probably benign |
Het |
| Or4c123 |
A |
G |
2: 89,127,407 (GRCm39) |
V69A |
probably benign |
Het |
| Or55b3 |
T |
C |
7: 102,126,742 (GRCm39) |
T112A |
possibly damaging |
Het |
| Or5p60 |
T |
A |
7: 107,724,249 (GRCm39) |
I74L |
probably benign |
Het |
| Pecam1 |
C |
T |
11: 106,581,807 (GRCm39) |
G380S |
probably damaging |
Het |
| Phf21a |
C |
T |
2: 92,179,767 (GRCm39) |
T345I |
probably damaging |
Het |
| Polg |
G |
A |
7: 79,109,485 (GRCm39) |
S444L |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,401,027 (GRCm39) |
Y486H |
probably damaging |
Het |
| Scg5 |
G |
A |
2: 113,622,382 (GRCm39) |
|
probably benign |
Het |
| Septin5 |
G |
T |
16: 18,443,579 (GRCm39) |
D123E |
probably damaging |
Het |
| Skint6 |
G |
A |
4: 112,944,993 (GRCm39) |
T483I |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,091,581 (GRCm39) |
|
probably benign |
Het |
| Tepsin |
T |
C |
11: 119,982,547 (GRCm39) |
R440G |
probably benign |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,959,947 (GRCm39) |
V649E |
probably damaging |
Het |
| Usf3 |
C |
A |
16: 44,040,019 (GRCm39) |
Q1500K |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,568 (GRCm39) |
S116G |
probably damaging |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,035 (GRCm39) |
I312L |
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 |
|
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 |
2015-04-16 |
Incidental Mutation