Incidental Mutation 'IGL01736:Folh1'
| ID |
105685 |
| 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 # |
IGL01736
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
86368185-86425151 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86391444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 384
(T384A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001824]
[ENSMUST00000107271]
|
| AlphaFold |
O35409 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001824
AA Change: T417A
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773
AA Change: T417A
| 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: T384A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773
AA Change: T384A
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,326,503 (GRCm39) |
T290A |
possibly damaging |
Het |
| Apip |
G |
A |
2: 102,917,486 (GRCm39) |
V62M |
probably damaging |
Het |
| Appbp2 |
T |
C |
11: 85,105,143 (GRCm39) |
K141R |
possibly damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,501,624 (GRCm39) |
|
probably benign |
Het |
| B3galt2 |
A |
G |
1: 143,522,583 (GRCm39) |
T240A |
probably benign |
Het |
| Bivm |
A |
T |
1: 44,180,973 (GRCm39) |
N385I |
probably damaging |
Het |
| Brd4 |
A |
T |
17: 32,417,649 (GRCm39) |
|
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,206,789 (GRCm39) |
D352G |
possibly damaging |
Het |
| Ceacam10 |
A |
G |
7: 24,480,535 (GRCm39) |
Y102C |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,156,282 (GRCm39) |
D677G |
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,226,536 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
C |
T |
6: 73,165,360 (GRCm39) |
V582M |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,521,552 (GRCm39) |
L541P |
probably damaging |
Het |
| Gdpd3 |
T |
C |
7: 126,365,695 (GRCm39) |
L18P |
probably damaging |
Het |
| Grxcr2 |
T |
A |
18: 42,132,047 (GRCm39) |
K7N |
probably damaging |
Het |
| Gulo |
A |
G |
14: 66,234,325 (GRCm39) |
F246L |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,723,968 (GRCm39) |
D500V |
probably benign |
Het |
| Ints4 |
C |
T |
7: 97,175,849 (GRCm39) |
L647F |
probably benign |
Het |
| Kif17 |
T |
A |
4: 138,013,876 (GRCm39) |
L264Q |
possibly damaging |
Het |
| Kif21a |
T |
C |
15: 90,843,948 (GRCm39) |
N1104S |
possibly damaging |
Het |
| Ly6e |
T |
G |
15: 74,830,546 (GRCm39) |
L132R |
probably benign |
Het |
| Mis18bp1 |
T |
A |
12: 65,185,452 (GRCm39) |
H905L |
probably damaging |
Het |
| Nr2f2 |
A |
G |
7: 70,004,446 (GRCm39) |
S269P |
probably damaging |
Het |
| Or2b2b |
C |
A |
13: 21,858,787 (GRCm39) |
C109F |
probably benign |
Het |
| Or2o1 |
G |
A |
11: 49,051,354 (GRCm39) |
C171Y |
probably damaging |
Het |
| Or5d46 |
T |
A |
2: 88,170,771 (GRCm39) |
N287K |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,166,910 (GRCm39) |
I757V |
probably damaging |
Het |
| Psg23 |
A |
T |
7: 18,346,122 (GRCm39) |
I191N |
possibly damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,672,475 (GRCm39) |
|
probably null |
Het |
| Snph |
A |
T |
2: 151,436,093 (GRCm39) |
Y209* |
probably null |
Het |
| Tnfaip3 |
T |
C |
10: 18,882,649 (GRCm39) |
H256R |
probably damaging |
Het |
| Tnip3 |
T |
A |
6: 65,573,107 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,243,386 (GRCm39) |
F1130Y |
probably damaging |
Het |
| Twnk |
T |
G |
19: 44,998,627 (GRCm39) |
V515G |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,280,658 (GRCm39) |
I2324K |
probably benign |
Het |
| Vwa7 |
T |
C |
17: 35,238,827 (GRCm39) |
F305S |
probably damaging |
Het |
| Ythdc2 |
A |
T |
18: 44,983,735 (GRCm39) |
Q567L |
probably damaging |
Het |
| Zbtb11 |
T |
A |
16: 55,818,523 (GRCm39) |
I649K |
probably damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,358,204 (GRCm39) |
Y683C |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,309,152 (GRCm39) |
M793L |
possibly damaging |
Het |
| Zmym6 |
T |
G |
4: 127,002,437 (GRCm39) |
I556R |
probably damaging |
Het |
| Zswim8 |
C |
T |
14: 20,764,780 (GRCm39) |
P717S |
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 |
|
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation