Incidental Mutation 'R7803:Folh1'
| ID |
600608 |
| 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 |
045858-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7803 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
86368185-86425151 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86375306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 527
(T527I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001824]
[ENSMUST00000107271]
|
| AlphaFold |
O35409 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001824
AA Change: T560I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773
AA Change: T560I
| 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 damaging
Transcript: ENSMUST00000107271
AA Change: T527I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773
AA Change: T527I
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (49/50) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
C |
A |
19: 34,220,818 (GRCm39) |
A297S |
probably benign |
Het |
| Ada |
A |
G |
2: 163,577,288 (GRCm39) |
Y67H |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,122,244 (GRCm39) |
I839T |
probably benign |
Het |
| Arg1 |
C |
T |
10: 24,792,689 (GRCm39) |
V182I |
possibly damaging |
Het |
| Cbx7 |
G |
A |
15: 79,818,024 (GRCm39) |
T26M |
unknown |
Het |
| Ceacam5 |
A |
G |
7: 17,493,317 (GRCm39) |
Y780C |
probably damaging |
Het |
| Ces2h |
A |
G |
8: 105,745,032 (GRCm39) |
M389V |
probably benign |
Het |
| Chst11 |
A |
T |
10: 83,027,020 (GRCm39) |
E149V |
possibly damaging |
Het |
| Clstn1 |
T |
C |
4: 149,716,328 (GRCm39) |
W265R |
probably damaging |
Het |
| Col4a4 |
A |
G |
1: 82,467,419 (GRCm39) |
|
probably null |
Het |
| Csrp3 |
T |
G |
7: 48,483,545 (GRCm39) |
K119T |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,446,229 (GRCm39) |
|
probably null |
Het |
| Ddx41 |
A |
G |
13: 55,679,734 (GRCm39) |
I437T |
probably damaging |
Het |
| Eif1ad4 |
T |
A |
12: 87,862,269 (GRCm39) |
C44S |
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,728,077 (GRCm39) |
D282E |
probably damaging |
Het |
| Gch1 |
T |
A |
14: 47,426,418 (GRCm39) |
T103S |
probably benign |
Het |
| Gpr149 |
A |
G |
3: 62,438,136 (GRCm39) |
S674P |
probably damaging |
Het |
| Hecw1 |
G |
T |
13: 14,408,927 (GRCm39) |
R1127S |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,646,030 (GRCm39) |
C723S |
probably benign |
Het |
| Impg2 |
T |
C |
16: 56,087,513 (GRCm39) |
S1111P |
probably damaging |
Het |
| Insl3 |
T |
C |
8: 72,141,984 (GRCm39) |
L28P |
probably damaging |
Het |
| Kifc1 |
T |
C |
17: 34,103,714 (GRCm39) |
D203G |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,760,804 (GRCm39) |
S849T |
unknown |
Het |
| Krt33b |
A |
G |
11: 99,916,084 (GRCm39) |
|
probably null |
Het |
| Lpin3 |
A |
G |
2: 160,737,310 (GRCm39) |
D119G |
possibly damaging |
Het |
| Maml2 |
GCA |
GCACCA |
9: 13,532,572 (GRCm39) |
|
probably benign |
Het |
| Maml2 |
AGC |
AGCCGC |
9: 13,532,571 (GRCm39) |
|
probably benign |
Het |
| Maml2 |
AGC |
AGCCGC |
9: 13,532,550 (GRCm39) |
|
probably benign |
Het |
| Nsun7 |
T |
A |
5: 66,433,884 (GRCm39) |
L178* |
probably null |
Het |
| Or6c1b |
A |
G |
10: 129,272,800 (GRCm39) |
N40D |
probably damaging |
Het |
| Or6c205 |
A |
T |
10: 129,086,864 (GRCm39) |
I154F |
probably benign |
Het |
| Or8g55 |
A |
T |
9: 39,785,378 (GRCm39) |
D269V |
probably benign |
Het |
| Orc6 |
T |
A |
8: 86,030,037 (GRCm39) |
S136T |
possibly damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
A |
G |
10: 94,779,377 (GRCm39) |
|
probably null |
Het |
| Prkdc |
G |
A |
16: 15,623,960 (GRCm39) |
D3308N |
probably null |
Het |
| Rtkn2 |
G |
A |
10: 67,815,643 (GRCm39) |
|
probably null |
Het |
| Sele |
T |
C |
1: 163,878,263 (GRCm39) |
S201P |
possibly damaging |
Het |
| Shq1 |
A |
G |
6: 100,648,006 (GRCm39) |
F6S |
probably damaging |
Het |
| Sparc |
A |
T |
11: 55,300,797 (GRCm39) |
I5N |
probably damaging |
Het |
| Spata31e3 |
A |
G |
13: 50,400,226 (GRCm39) |
V700A |
probably benign |
Het |
| Srm |
T |
C |
4: 148,678,402 (GRCm39) |
I238T |
probably damaging |
Het |
| Stx2 |
C |
A |
5: 129,070,627 (GRCm39) |
E97* |
probably null |
Het |
| Sugp2 |
C |
T |
8: 70,704,722 (GRCm39) |
P753L |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,937,943 (GRCm39) |
S1578T |
probably damaging |
Het |
| Tff3 |
T |
C |
17: 31,348,544 (GRCm39) |
T3A |
probably benign |
Het |
| Tmem38a |
C |
T |
8: 73,325,964 (GRCm39) |
A6V |
probably benign |
Het |
| Trbv16 |
G |
A |
6: 41,128,929 (GRCm39) |
A38T |
not run |
Het |
| Trim30a |
G |
A |
7: 104,060,604 (GRCm39) |
Q391* |
probably null |
Het |
| Ttn |
T |
G |
2: 76,606,715 (GRCm39) |
Y18065S |
probably damaging |
Het |
| Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
| Vmn2r24 |
T |
A |
6: 123,757,438 (GRCm39) |
M102K |
probably benign |
Het |
| Vmn2r69 |
G |
T |
7: 85,056,324 (GRCm39) |
H605N |
probably benign |
Het |
| Washc1 |
T |
A |
17: 66,426,055 (GRCm39) |
M451K |
possibly damaging |
Het |
| Washc3 |
G |
T |
10: 88,051,937 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
T |
15: 59,240,308 (GRCm39) |
Y112N |
probably damaging |
Het |
| Zbtb40 |
T |
A |
4: 136,744,638 (GRCm39) |
T261S |
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 |
|
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 |
|
|
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'- AAGCCTTCATTTCTTGTGGATG -3'
(R):5'- GCCTAGGGTAGTCCTTTACTAAGTTC -3'
Sequencing Primer
(F):5'- CTTCATTTCTTGTGGATGTTTCATTG -3'
(R):5'- AAGTTTACATGATCCCTGTCCGCTAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation