Incidental Mutation 'IGL02338:Folh1'
ID |
288978 |
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 # |
IGL02338
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
86368185-86425151 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 86385723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102892
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001824]
[ENSMUST00000107271]
|
AlphaFold |
O35409 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001824
|
SMART Domains |
Protein: ENSMUSP00000001824 Gene: ENSMUSG00000001773
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
|
SMART Domains |
Protein: ENSMUSP00000102892 Gene: ENSMUSG00000001773
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahdc1 |
G |
A |
4: 132,789,860 (GRCm39) |
C367Y |
possibly damaging |
Het |
AI182371 |
T |
A |
2: 34,975,728 (GRCm39) |
I279L |
probably benign |
Het |
Ambp |
A |
T |
4: 63,061,934 (GRCm39) |
C332S |
probably damaging |
Het |
App |
T |
C |
16: 84,970,407 (GRCm39) |
T14A |
probably benign |
Het |
Asap1 |
A |
T |
15: 63,995,519 (GRCm39) |
|
probably null |
Het |
Aurka |
T |
C |
2: 172,201,778 (GRCm39) |
R242G |
probably benign |
Het |
BC034090 |
G |
A |
1: 155,093,217 (GRCm39) |
P747L |
probably damaging |
Het |
Bcl6b |
T |
C |
11: 70,119,918 (GRCm39) |
D23G |
probably damaging |
Het |
Cabp2 |
A |
C |
19: 4,134,154 (GRCm39) |
E42A |
possibly damaging |
Het |
Ccdc14 |
G |
A |
16: 34,542,173 (GRCm39) |
S557N |
probably benign |
Het |
Ccdc146 |
G |
T |
5: 21,524,604 (GRCm39) |
|
probably benign |
Het |
Cenpf |
T |
A |
1: 189,412,615 (GRCm39) |
Q216L |
probably damaging |
Het |
Ces1b |
G |
A |
8: 93,783,675 (GRCm39) |
P515L |
possibly damaging |
Het |
Col6a5 |
A |
T |
9: 105,755,829 (GRCm39) |
N2198K |
probably damaging |
Het |
Csmd2 |
A |
G |
4: 128,288,859 (GRCm39) |
S1133G |
possibly damaging |
Het |
Cspg5 |
G |
A |
9: 110,085,335 (GRCm39) |
R502H |
probably benign |
Het |
Cyp2g1 |
A |
G |
7: 26,514,229 (GRCm39) |
|
probably benign |
Het |
Dnajc27 |
A |
G |
12: 4,146,229 (GRCm39) |
Y86C |
probably damaging |
Het |
Dnm1 |
T |
C |
2: 32,202,783 (GRCm39) |
D715G |
probably damaging |
Het |
Dock1 |
G |
T |
7: 134,734,804 (GRCm39) |
L1317F |
possibly damaging |
Het |
Fanci |
T |
A |
7: 79,083,279 (GRCm39) |
Y727* |
probably null |
Het |
Fbxw20 |
T |
A |
9: 109,055,046 (GRCm39) |
T168S |
probably benign |
Het |
Gas7 |
A |
T |
11: 67,573,557 (GRCm39) |
S379C |
probably damaging |
Het |
Gbp2b |
A |
G |
3: 142,309,987 (GRCm39) |
E259G |
probably benign |
Het |
Gm8325 |
T |
C |
3: 60,784,805 (GRCm39) |
|
noncoding transcript |
Het |
Gpr75 |
A |
T |
11: 30,841,730 (GRCm39) |
T212S |
probably benign |
Het |
Itgb4 |
A |
G |
11: 115,898,795 (GRCm39) |
T1711A |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,184,796 (GRCm39) |
S453G |
probably benign |
Het |
Maneal |
A |
G |
4: 124,754,276 (GRCm39) |
|
probably benign |
Het |
Marco |
A |
T |
1: 120,422,508 (GRCm39) |
I58N |
possibly damaging |
Het |
Mtcl1 |
A |
G |
17: 66,686,965 (GRCm39) |
I647T |
probably damaging |
Het |
Mtfr1l |
A |
T |
4: 134,258,054 (GRCm39) |
V56D |
probably damaging |
Het |
Npy1r |
G |
A |
8: 67,156,954 (GRCm39) |
V125I |
probably damaging |
Het |
Or1j19 |
C |
T |
2: 36,676,557 (GRCm39) |
Q7* |
probably null |
Het |
Or52n20 |
T |
C |
7: 104,320,888 (GRCm39) |
|
probably benign |
Het |
Or7g25 |
A |
G |
9: 19,159,960 (GRCm39) |
L245P |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,867,210 (GRCm39) |
L362* |
probably null |
Het |
Pdlim2 |
T |
C |
14: 70,411,906 (GRCm39) |
D42G |
probably damaging |
Het |
Plcb4 |
T |
A |
2: 135,842,100 (GRCm39) |
I89N |
possibly damaging |
Het |
Prrc2b |
T |
A |
2: 32,104,047 (GRCm39) |
M1175K |
probably benign |
Het |
Pzp |
T |
A |
6: 128,463,133 (GRCm39) |
N1423I |
probably benign |
Het |
Retnla |
G |
A |
16: 48,664,561 (GRCm39) |
C105Y |
probably damaging |
Het |
Samd8 |
T |
A |
14: 21,825,544 (GRCm39) |
S167T |
possibly damaging |
Het |
Scg2 |
A |
G |
1: 79,414,210 (GRCm39) |
M171T |
possibly damaging |
Het |
Slc30a5 |
A |
G |
13: 100,939,941 (GRCm39) |
V658A |
probably damaging |
Het |
Slc41a2 |
T |
C |
10: 83,152,455 (GRCm39) |
R7G |
possibly damaging |
Het |
Slc44a2 |
A |
G |
9: 21,258,338 (GRCm39) |
T500A |
probably damaging |
Het |
Slc44a4 |
G |
T |
17: 35,142,786 (GRCm39) |
G396V |
possibly damaging |
Het |
Smarca5 |
A |
G |
8: 81,446,199 (GRCm39) |
|
probably benign |
Het |
St8sia6 |
T |
A |
2: 13,798,156 (GRCm39) |
R34W |
probably damaging |
Het |
Stk-ps2 |
T |
A |
1: 46,069,337 (GRCm39) |
|
noncoding transcript |
Het |
Stn1 |
T |
C |
19: 47,502,329 (GRCm39) |
Y235C |
probably damaging |
Het |
Tbx15 |
A |
G |
3: 99,259,800 (GRCm39) |
Y557C |
probably damaging |
Het |
Tgfbr1 |
G |
A |
4: 47,393,490 (GRCm39) |
|
probably null |
Het |
Thsd7b |
G |
T |
1: 129,523,508 (GRCm39) |
V181L |
probably damaging |
Het |
Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
Trpm4 |
T |
G |
7: 44,976,422 (GRCm39) |
R51S |
probably damaging |
Het |
Vmn1r91 |
A |
T |
7: 19,835,671 (GRCm39) |
T197S |
probably damaging |
Het |
Vmn2r-ps158 |
T |
C |
7: 42,697,160 (GRCm39) |
I739T |
probably damaging |
Het |
Xrn1 |
A |
G |
9: 95,859,880 (GRCm39) |
D424G |
probably benign |
Het |
Yap1 |
A |
G |
9: 7,962,282 (GRCm39) |
|
probably null |
Het |
Zer1 |
T |
C |
2: 30,003,405 (GRCm39) |
D4G |
probably damaging |
Het |
Zfp462 |
A |
T |
4: 55,010,292 (GRCm39) |
I753F |
possibly damaging |
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 |
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 |