Incidental Mutation 'R7539:Folh1'
| ID |
583782 |
| 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 |
045611-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7539 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
86368185-86425151 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86375117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 623
(E623V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001824]
[ENSMUST00000107271]
|
| AlphaFold |
O35409 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001824
AA Change: E623V
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773
AA Change: E623V
| 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: E590V
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773
AA Change: E590V
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (63/63) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Abcf3 |
T |
C |
16: 20,371,382 (GRCm39) |
|
probably null |
Het |
| Agbl1 |
T |
C |
7: 76,075,677 (GRCm39) |
|
probably null |
Het |
| Ap5m1 |
C |
A |
14: 49,311,014 (GRCm39) |
P28Q |
probably damaging |
Het |
| Bet1l |
T |
C |
7: 140,434,457 (GRCm39) |
D83G |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,956,691 (GRCm39) |
S3571P |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,975,203 (GRCm39) |
M2037K |
possibly damaging |
Het |
| Ccdc80 |
A |
T |
16: 44,915,445 (GRCm39) |
E67V |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,746,654 (GRCm39) |
M133V |
probably benign |
Het |
| Ckmt2 |
C |
A |
13: 92,008,063 (GRCm39) |
D224Y |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,230,728 (GRCm39) |
I1002V |
probably benign |
Het |
| Crb1 |
T |
G |
1: 139,175,967 (GRCm39) |
K672T |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,370,119 (GRCm39) |
S4515P |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,818,848 (GRCm39) |
S1545P |
probably damaging |
Het |
| Dop1a |
T |
G |
9: 86,403,626 (GRCm39) |
S145A |
probably benign |
Het |
| Eps8l1 |
T |
C |
7: 4,473,036 (GRCm39) |
S92P |
probably damaging |
Het |
| Faap100 |
T |
C |
11: 120,268,464 (GRCm39) |
D103G |
possibly damaging |
Het |
| Fech |
T |
A |
18: 64,616,565 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
T |
C |
2: 57,925,242 (GRCm39) |
L841P |
probably damaging |
Het |
| Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
| Gm10577 |
C |
T |
4: 100,877,893 (GRCm39) |
V1I |
unknown |
Het |
| Grip1 |
T |
A |
10: 119,890,776 (GRCm39) |
H938Q |
probably benign |
Het |
| Gucy2g |
G |
A |
19: 55,191,586 (GRCm39) |
A955V |
probably damaging |
Het |
| Hpd |
G |
C |
5: 123,316,255 (GRCm39) |
Y165* |
probably null |
Het |
| Iqsec1 |
C |
A |
6: 90,639,873 (GRCm39) |
R955L |
probably benign |
Het |
| Masp1 |
A |
T |
16: 23,289,128 (GRCm39) |
H557Q |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,576,770 (GRCm39) |
T20M |
|
Het |
| Myo16 |
T |
C |
8: 10,411,095 (GRCm39) |
|
probably null |
Het |
| Nfkb2 |
T |
C |
19: 46,296,662 (GRCm39) |
F273L |
possibly damaging |
Het |
| Nherf2 |
G |
T |
17: 24,860,873 (GRCm39) |
A223D |
probably damaging |
Het |
| Or11l3 |
A |
T |
11: 58,516,782 (GRCm39) |
I29N |
probably damaging |
Het |
| Or1l8 |
T |
C |
2: 36,817,221 (GRCm39) |
R302G |
probably benign |
Het |
| Or2a56 |
T |
C |
6: 42,933,037 (GRCm39) |
C202R |
possibly damaging |
Het |
| Or4k49 |
T |
C |
2: 111,494,778 (GRCm39) |
V69A |
possibly damaging |
Het |
| Or52ab7 |
A |
G |
7: 102,977,701 (GRCm39) |
S3G |
probably benign |
Het |
| Or52e3 |
T |
C |
7: 102,869,273 (GRCm39) |
V116A |
possibly damaging |
Het |
| Or5b124 |
C |
T |
19: 13,610,933 (GRCm39) |
Q153* |
probably null |
Het |
| Or6c2 |
A |
T |
10: 129,362,974 (GRCm39) |
K293* |
probably null |
Het |
| Or6c69 |
T |
C |
10: 129,747,932 (GRCm39) |
T72A |
probably damaging |
Het |
| Or7e174 |
A |
T |
9: 20,012,915 (GRCm39) |
M287L |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,873,212 (GRCm39) |
I1152N |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,711,167 (GRCm39) |
T1352A |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,939,331 (GRCm39) |
N1669S |
probably damaging |
Het |
| Pinx1 |
A |
T |
14: 64,156,655 (GRCm39) |
Q194L |
probably benign |
Het |
| Podxl2 |
A |
C |
6: 88,826,311 (GRCm39) |
S268A |
probably benign |
Het |
| Polr2c |
C |
A |
8: 95,597,407 (GRCm39) |
H363N |
unknown |
Het |
| Prlr |
C |
T |
15: 10,329,109 (GRCm39) |
T528I |
probably benign |
Het |
| Rab37 |
A |
C |
11: 115,051,487 (GRCm39) |
Q198P |
probably benign |
Het |
| Rrm2b |
T |
A |
15: 37,937,595 (GRCm39) |
|
probably null |
Het |
| Serpina3b |
T |
C |
12: 104,096,970 (GRCm39) |
S84P |
possibly damaging |
Het |
| Stat4 |
A |
T |
1: 52,110,868 (GRCm39) |
|
probably null |
Het |
| Them6 |
T |
C |
15: 74,595,349 (GRCm39) |
I185T |
probably damaging |
Het |
| Tmco4 |
T |
A |
4: 138,749,010 (GRCm39) |
M316K |
probably benign |
Het |
| Tmtc4 |
G |
T |
14: 123,215,701 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
A |
T |
3: 154,667,668 (GRCm39) |
N248K |
probably benign |
Het |
| Trim43a |
T |
A |
9: 88,465,096 (GRCm39) |
L141Q |
probably benign |
Het |
| Utp20 |
C |
T |
10: 88,627,607 (GRCm39) |
V953M |
probably damaging |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,853 (GRCm39) |
T684S |
probably damaging |
Het |
| Wasl |
A |
T |
6: 24,619,197 (GRCm39) |
I441N |
unknown |
Het |
| Wfikkn2 |
T |
C |
11: 94,133,185 (GRCm39) |
D64G |
probably damaging |
Het |
| Zfp128 |
C |
A |
7: 12,624,479 (GRCm39) |
Y282* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATCACTCCAGCCCATGAG -3'
(R):5'- AGCAGCTATCCTCTCTATCACAG -3'
Sequencing Primer
(F):5'- TCCAGCCCATGAGTTTAAAACTGG -3'
(R):5'- CAGTGTCTATGAAACATATGAGCTGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation