Incidental Mutation 'IGL02104:Folh1'
| ID |
279902 |
| 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 # |
IGL02104
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
86368185-86425151 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86393638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 391
(Q391R)
|
| 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: Q391R
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773
AA Change: Q391R
| 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: Q358R
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773
AA Change: Q358R
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933440M02Rik |
T |
C |
7: 124,930,714 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb5 |
T |
A |
12: 118,904,415 (GRCm39) |
Q125L |
probably damaging |
Het |
| Acap3 |
G |
A |
4: 155,989,542 (GRCm39) |
R662H |
probably damaging |
Het |
| Aox4 |
T |
A |
1: 58,275,816 (GRCm39) |
|
probably benign |
Het |
| Aqp6 |
T |
C |
15: 99,502,159 (GRCm39) |
S285P |
probably benign |
Het |
| Arhgef5 |
A |
T |
6: 43,249,345 (GRCm39) |
Q32L |
probably damaging |
Het |
| B3gnt6 |
G |
T |
7: 97,843,308 (GRCm39) |
D217E |
probably damaging |
Het |
| Cfap251 |
T |
A |
5: 123,440,761 (GRCm39) |
L1106* |
probably null |
Het |
| Chd6 |
T |
C |
2: 160,819,432 (GRCm39) |
I1338V |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,295,367 (GRCm39) |
E9G |
possibly damaging |
Het |
| Col11a1 |
T |
A |
3: 113,975,046 (GRCm39) |
|
probably null |
Het |
| Dcdc2b |
T |
A |
4: 129,504,867 (GRCm39) |
D88V |
probably benign |
Het |
| Dis3l |
T |
A |
9: 64,217,611 (GRCm39) |
K791N |
possibly damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,311,299 (GRCm39) |
Y1008* |
probably null |
Het |
| Dnah11 |
A |
G |
12: 118,156,125 (GRCm39) |
V175A |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,307,263 (GRCm39) |
|
probably null |
Het |
| Fam117b |
C |
T |
1: 59,988,278 (GRCm39) |
T219I |
probably benign |
Het |
| Fgf21 |
T |
A |
7: 45,264,648 (GRCm39) |
Q28L |
probably benign |
Het |
| Gars1 |
A |
G |
6: 55,054,682 (GRCm39) |
D663G |
probably damaging |
Het |
| Lats2 |
A |
G |
14: 57,971,469 (GRCm39) |
F69L |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,340,762 (GRCm39) |
V1038M |
probably damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,777 (GRCm39) |
V826E |
probably damaging |
Het |
| Mapkap1 |
T |
A |
2: 34,513,482 (GRCm39) |
Y497* |
probably null |
Het |
| Mast3 |
T |
C |
8: 71,240,550 (GRCm39) |
I296V |
possibly damaging |
Het |
| Mon1a |
T |
G |
9: 107,778,814 (GRCm39) |
L346R |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,912,036 (GRCm39) |
L353S |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,364,815 (GRCm39) |
Y2634H |
probably damaging |
Het |
| Mylk |
A |
G |
16: 34,635,805 (GRCm39) |
T9A |
probably benign |
Het |
| Or10j2 |
T |
C |
1: 173,098,603 (GRCm39) |
V287A |
probably damaging |
Het |
| Or14j8 |
A |
C |
17: 38,263,182 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or55b3 |
C |
A |
7: 102,126,544 (GRCm39) |
V178F |
probably damaging |
Het |
| Or5an6 |
T |
A |
19: 12,372,263 (GRCm39) |
V212D |
probably damaging |
Het |
| Or5b122 |
T |
A |
19: 13,562,968 (GRCm39) |
M57K |
probably damaging |
Het |
| Or5m8 |
G |
T |
2: 85,822,730 (GRCm39) |
D190Y |
probably damaging |
Het |
| Or7g25 |
A |
T |
9: 19,160,166 (GRCm39) |
H176Q |
probably benign |
Het |
| Pabpc2 |
A |
C |
18: 39,907,936 (GRCm39) |
Q400H |
possibly damaging |
Het |
| Pigg |
A |
G |
5: 108,489,963 (GRCm39) |
Y856C |
probably damaging |
Het |
| Plekhn1 |
A |
T |
4: 156,306,865 (GRCm39) |
V508E |
probably benign |
Het |
| Pom121l2 |
C |
A |
13: 22,166,445 (GRCm39) |
H239N |
possibly damaging |
Het |
| Prdm2 |
A |
G |
4: 142,859,997 (GRCm39) |
S1098P |
probably benign |
Het |
| Rnf212 |
A |
G |
5: 108,895,306 (GRCm39) |
I41T |
possibly damaging |
Het |
| Rngtt |
A |
G |
4: 33,320,517 (GRCm39) |
|
probably null |
Het |
| Rpn2 |
C |
T |
2: 157,163,747 (GRCm39) |
T613M |
probably damaging |
Het |
| Scd4 |
G |
T |
19: 44,333,186 (GRCm39) |
V304F |
possibly damaging |
Het |
| Sez6l |
A |
G |
5: 112,574,630 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,088,248 (GRCm39) |
R158G |
probably benign |
Het |
| Stil |
T |
C |
4: 114,898,679 (GRCm39) |
L1103P |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,670,959 (GRCm39) |
|
probably benign |
Het |
| Tmc1 |
C |
T |
19: 20,809,818 (GRCm39) |
D255N |
probably benign |
Het |
| Trank1 |
C |
A |
9: 111,219,780 (GRCm39) |
D2172E |
possibly damaging |
Het |
| Tyro3 |
G |
A |
2: 119,643,681 (GRCm39) |
R718H |
probably damaging |
Het |
| Vamp2 |
C |
A |
11: 68,981,483 (GRCm39) |
F114L |
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 |
|
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 |
2015-04-16 |
Incidental Mutation