Incidental Mutation 'R8208:Folh1'
| ID |
636010 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Folh1
|
| Ensembl Gene |
ENSMUSG00000001773 |
| Gene Name |
folate hydrolase 1 |
| Synonyms |
GCP2, mopsm, glutamate carboxypeptidase II, prostate-specific membrane antigen |
| MMRRC Submission |
067631-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8208 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
86368185-86425151 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86375125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 620
(H620Q)
|
| 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: H620Q
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773
AA Change: H620Q
| 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: H587Q
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773
AA Change: H587Q
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (47/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
G |
A |
6: 58,642,227 (GRCm39) |
V172I |
possibly damaging |
Het |
| Agbl1 |
T |
A |
7: 76,369,916 (GRCm39) |
C924S |
unknown |
Het |
| Arhgap11a |
T |
C |
2: 113,673,284 (GRCm39) |
S100G |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,763,891 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
T |
A |
6: 4,515,260 (GRCm39) |
|
probably null |
Het |
| Colec10 |
C |
G |
15: 54,325,696 (GRCm39) |
H175Q |
possibly damaging |
Het |
| Cyp46a1 |
A |
T |
12: 108,318,171 (GRCm39) |
|
probably null |
Het |
| Dennd4b |
T |
A |
3: 90,178,278 (GRCm39) |
I501N |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,411,678 (GRCm39) |
F315L |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,860 (GRCm39) |
E367G |
probably damaging |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Galnt10 |
A |
T |
11: 57,536,398 (GRCm39) |
E5V |
possibly damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,698,381 (GRCm39) |
V172A |
probably damaging |
Het |
| Greb1l |
T |
C |
18: 10,510,703 (GRCm39) |
L599P |
probably damaging |
Het |
| Hcn2 |
T |
A |
10: 79,566,778 (GRCm39) |
M485K |
possibly damaging |
Het |
| Hirip3 |
G |
T |
7: 126,463,595 (GRCm39) |
C494F |
probably damaging |
Het |
| Hsfy2 |
A |
G |
1: 56,676,310 (GRCm39) |
F76L |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,777,426 (GRCm39) |
H24R |
possibly damaging |
Het |
| Laptm4b |
G |
A |
15: 34,277,591 (GRCm39) |
S174N |
probably damaging |
Het |
| Lgals8 |
A |
G |
13: 12,468,255 (GRCm39) |
Y125H |
probably damaging |
Het |
| Mapk14 |
A |
T |
17: 28,943,807 (GRCm39) |
Y132F |
probably damaging |
Het |
| Mxd4 |
A |
T |
5: 34,335,070 (GRCm39) |
I115N |
probably benign |
Het |
| Ndufaf1 |
T |
C |
2: 119,490,827 (GRCm39) |
T80A |
probably benign |
Het |
| Or10ag53 |
A |
G |
2: 87,083,007 (GRCm39) |
K242R |
probably benign |
Het |
| Or11h6 |
T |
C |
14: 50,880,088 (GRCm39) |
F117L |
probably benign |
Het |
| Or56a5 |
T |
A |
7: 104,792,625 (GRCm39) |
I298F |
probably damaging |
Het |
| Or5k3 |
C |
A |
16: 58,969,382 (GRCm39) |
H56Q |
probably benign |
Het |
| Pcf11 |
G |
T |
7: 92,298,731 (GRCm39) |
N1268K |
probably damaging |
Het |
| Plcl2 |
T |
C |
17: 50,915,343 (GRCm39) |
V784A |
probably damaging |
Het |
| Ptp4a2 |
C |
T |
4: 129,736,485 (GRCm39) |
T40I |
probably benign |
Het |
| Rab2b |
C |
T |
14: 52,502,224 (GRCm39) |
A159T |
possibly damaging |
Het |
| Sec61a2 |
G |
T |
2: 5,881,809 (GRCm39) |
T207K |
probably benign |
Het |
| Serpina5 |
A |
G |
12: 104,071,532 (GRCm39) |
I380V |
probably benign |
Het |
| Slc26a2 |
C |
T |
18: 61,331,806 (GRCm39) |
V542M |
probably damaging |
Het |
| Snd1 |
C |
T |
6: 28,526,054 (GRCm39) |
P144L |
possibly damaging |
Het |
| Spop |
C |
T |
11: 95,382,650 (GRCm39) |
R370C |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,074,972 (GRCm39) |
D1300G |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,878,326 (GRCm39) |
K891* |
noncoding transcript |
Het |
| Tnrc6b |
G |
A |
15: 80,742,901 (GRCm39) |
E45K |
possibly damaging |
Het |
| Tpst1 |
A |
G |
5: 130,130,751 (GRCm39) |
I74V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,556,192 (GRCm39) |
H30271R |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,606,990 (GRCm39) |
A3962S |
possibly damaging |
Het |
| Vmn1r200 |
G |
A |
13: 22,579,470 (GRCm39) |
R91H |
probably damaging |
Het |
| Vmn2r22 |
T |
A |
6: 123,614,444 (GRCm39) |
N382I |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,335,322 (GRCm39) |
S113P |
probably damaging |
Het |
| Zfp335 |
C |
A |
2: 164,735,536 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATCACTCCAGCCCATGAG -3'
(R):5'- GCAGCTATCCTCTCTATCACAGTG -3'
Sequencing Primer
(F):5'- TCCAGCCCATGAGTTTAAAACTGG -3'
(R):5'- CAGTGTCTATGAAACATATGAGCTGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation