Incidental Mutation 'R7449:Folh1'
| ID |
577561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Folh1
|
| Ensembl Gene |
ENSMUSG00000001773 |
| Gene Name |
folate hydrolase 1 |
| Synonyms |
prostate-specific membrane antigen, glutamate carboxypeptidase II, mopsm, GCP2 |
| MMRRC Submission |
045524-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7449 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
86718977-86775943 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86731748 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 506
(P506S)
|
| 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: P506S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773
AA Change: P506S
| 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: P473S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773
AA Change: P473S
| 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: 99.7%
- 20x: 99.0%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,435,908 (GRCm38) |
Y306N |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,499,073 (GRCm38) |
V3116D |
probably damaging |
Het |
| Adssl1 |
A |
T |
12: 112,634,151 (GRCm38) |
T185S |
probably damaging |
Het |
| Ago2 |
G |
A |
15: 73,146,499 (GRCm38) |
P30L |
probably damaging |
Het |
| Atp5j |
C |
T |
16: 84,831,363 (GRCm38) |
V44M |
probably benign |
Het |
| Atp7b |
T |
A |
8: 22,011,849 (GRCm38) |
I833F |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,702,341 (GRCm38) |
N4869K |
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,602,349 (GRCm38) |
D1796N |
|
Het |
| Ccng2 |
C |
G |
5: 93,273,343 (GRCm38) |
S237R |
probably benign |
Het |
| Cnga1 |
A |
G |
5: 72,605,304 (GRCm38) |
I289T |
probably benign |
Het |
| Crybg1 |
C |
A |
10: 44,004,519 (GRCm38) |
E224D |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,137,380 (GRCm38) |
L1217P |
possibly damaging |
Het |
| Ebf2 |
T |
A |
14: 67,410,020 (GRCm38) |
N339K |
probably damaging |
Het |
| Eva1c |
T |
C |
16: 90,876,193 (GRCm38) |
|
probably null |
Het |
| Fam172a |
A |
G |
13: 77,759,442 (GRCm38) |
I41V |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,698,634 (GRCm38) |
E293G |
probably damaging |
Het |
| Ftcd |
A |
T |
10: 76,580,163 (GRCm38) |
K210N |
probably benign |
Het |
| Gdf6 |
T |
A |
4: 9,844,494 (GRCm38) |
V6D |
possibly damaging |
Het |
| Ghitm |
C |
A |
14: 37,131,581 (GRCm38) |
G101C |
probably damaging |
Het |
| Gimap5 |
T |
A |
6: 48,752,904 (GRCm38) |
V136D |
probably damaging |
Het |
| Gm9745 |
T |
A |
13: 8,943,304 (GRCm38) |
H51L |
probably damaging |
Het |
| Grm4 |
C |
T |
17: 27,435,371 (GRCm38) |
G535D |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 120,229,711 (GRCm38) |
S314P |
unknown |
Het |
| Hnrnpdl |
A |
G |
5: 100,037,155 (GRCm38) |
I279T |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,389,384 (GRCm38) |
S923P |
probably damaging |
Het |
| Krt39 |
C |
A |
11: 99,518,061 (GRCm38) |
C303F |
probably benign |
Het |
| Lrrn1 |
T |
C |
6: 107,568,521 (GRCm38) |
S427P |
possibly damaging |
Het |
| Lrrn3 |
T |
A |
12: 41,453,488 (GRCm38) |
R277W |
probably damaging |
Het |
| Ltb4r1 |
T |
C |
14: 55,767,918 (GRCm38) |
L226P |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,508,140 (GRCm38) |
R85Q |
probably damaging |
Het |
| Mcoln1 |
T |
C |
8: 3,507,285 (GRCm38) |
L125P |
probably damaging |
Het |
| Nid1 |
T |
G |
13: 13,482,051 (GRCm38) |
V589G |
probably damaging |
Het |
| Nlrp5 |
T |
G |
7: 23,417,526 (GRCm38) |
F225C |
probably benign |
Het |
| Notch3 |
C |
T |
17: 32,157,966 (GRCm38) |
A322T |
probably damaging |
Het |
| Olfr299 |
A |
G |
7: 86,465,855 (GRCm38) |
H148R |
probably benign |
Het |
| Olfr69 |
G |
T |
7: 103,767,819 (GRCm38) |
Q193K |
probably benign |
Het |
| Olfr854 |
T |
A |
9: 19,566,866 (GRCm38) |
T173S |
probably benign |
Het |
| Otogl |
A |
G |
10: 107,803,663 (GRCm38) |
C1363R |
probably damaging |
Het |
| Ovol1 |
T |
A |
19: 5,553,597 (GRCm38) |
D92V |
probably benign |
Het |
| Pigt |
T |
C |
2: 164,502,499 (GRCm38) |
L356P |
probably damaging |
Het |
| Plekhg3 |
A |
G |
12: 76,566,222 (GRCm38) |
Q434R |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,079,552 (GRCm38) |
F1344L |
probably benign |
Het |
| Psmd3 |
T |
A |
11: 98,695,551 (GRCm38) |
L515Q |
probably damaging |
Het |
| Pus1 |
A |
G |
5: 110,774,586 (GRCm38) |
L405P |
probably damaging |
Het |
| Qtrt2 |
T |
A |
16: 43,881,032 (GRCm38) |
H55L |
probably benign |
Het |
| Rasgrp1 |
T |
C |
2: 117,287,943 (GRCm38) |
I522V |
probably damaging |
Het |
| Raver2 |
T |
A |
4: 101,102,663 (GRCm38) |
H113Q |
probably damaging |
Het |
| Recql4 |
T |
C |
15: 76,705,565 (GRCm38) |
D760G |
unknown |
Het |
| Rhobtb3 |
C |
T |
13: 75,910,741 (GRCm38) |
V313M |
probably benign |
Het |
| Rhox4d |
G |
A |
X: 37,518,992 (GRCm38) |
G191E |
unknown |
Het |
| Rictor |
C |
T |
15: 6,772,154 (GRCm38) |
S441L |
probably benign |
Het |
| Rnf185 |
T |
C |
11: 3,426,578 (GRCm38) |
Q135R |
probably benign |
Het |
| Sema3f |
T |
C |
9: 107,684,036 (GRCm38) |
S584G |
probably damaging |
Het |
| Sh3pxd2a |
T |
A |
19: 47,267,652 (GRCm38) |
T904S |
probably benign |
Het |
| Slc4a10 |
T |
C |
2: 62,303,946 (GRCm38) |
V1002A |
probably benign |
Het |
| Taf1b |
T |
C |
12: 24,504,993 (GRCm38) |
I55T |
probably benign |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,446,708 (GRCm38) |
|
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,874,213 (GRCm38) |
D1654V |
possibly damaging |
Het |
| Tgfb1 |
G |
A |
7: 25,704,838 (GRCm38) |
V357M |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,703,361 (GRCm38) |
P2383S |
possibly damaging |
Het |
| Trpm1 |
A |
T |
7: 64,208,975 (GRCm38) |
M382L |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,851,209 (GRCm38) |
Y3516C |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,885,233 (GRCm38) |
Y494* |
probably null |
Het |
| Ubr2 |
C |
T |
17: 46,964,788 (GRCm38) |
E811K |
probably damaging |
Het |
| Ubxn4 |
T |
A |
1: 128,244,543 (GRCm38) |
F25I |
possibly damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,459,895 (GRCm38) |
M785T |
probably damaging |
Het |
| Vmn2r99 |
G |
A |
17: 19,379,145 (GRCm38) |
D364N |
probably benign |
Het |
| Vps45 |
C |
A |
3: 96,047,136 (GRCm38) |
|
probably null |
Het |
| Wdr25 |
A |
C |
12: 109,026,441 (GRCm38) |
H426P |
probably damaging |
Het |
| Wdr83 |
A |
T |
8: 85,079,681 (GRCm38) |
W136R |
probably damaging |
Het |
| Xylt1 |
A |
C |
7: 117,592,005 (GRCm38) |
I343L |
possibly damaging |
Het |
| Znrd1as |
A |
G |
17: 36,964,383 (GRCm38) |
D16G |
probably damaging |
Het |
| Zscan4b |
T |
C |
7: 10,904,058 (GRCm38) |
Q53R |
possibly damaging |
Het |
|
| Other mutations in Folh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Folh1
|
APN |
7 |
86,734,143 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00531:Folh1
|
APN |
7 |
86,719,769 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL00772:Folh1
|
APN |
7 |
86,731,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01339:Folh1
|
APN |
7 |
86,726,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01373:Folh1
|
APN |
7 |
86,746,142 (GRCm38) |
missense |
probably benign |
0.39 |
|
IGL01645:Folh1
|
APN |
7 |
86,742,227 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01736:Folh1
|
APN |
7 |
86,742,236 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
IGL02104:Folh1
|
APN |
7 |
86,744,430 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02124:Folh1
|
APN |
7 |
86,725,418 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02338:Folh1
|
APN |
7 |
86,736,515 (GRCm38) |
splice site |
probably benign |
|
|
IGL02440:Folh1
|
APN |
7 |
86,734,104 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02689:Folh1
|
APN |
7 |
86,763,045 (GRCm38) |
splice site |
probably null |
|
|
IGL02976:Folh1
|
APN |
7 |
86,762,918 (GRCm38) |
missense |
probably benign |
|
|
IGL03022:Folh1
|
APN |
7 |
86,746,171 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R0090:Folh1
|
UTSW |
7 |
86,725,868 (GRCm38) |
splice site |
probably benign |
|
|
R0285:Folh1
|
UTSW |
7 |
86,742,165 (GRCm38) |
splice site |
probably benign |
|
|
R0482:Folh1
|
UTSW |
7 |
86,746,101 (GRCm38) |
splice site |
probably benign |
|
|
R0492:Folh1
|
UTSW |
7 |
86,746,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1079:Folh1
|
UTSW |
7 |
86,771,881 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1148:Folh1
|
UTSW |
7 |
86,761,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1148:Folh1
|
UTSW |
7 |
86,761,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1493:Folh1
|
UTSW |
7 |
86,761,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1778:Folh1
|
UTSW |
7 |
86,761,699 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1865:Folh1
|
UTSW |
7 |
86,725,906 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1878:Folh1
|
UTSW |
7 |
86,771,742 (GRCm38) |
missense |
probably benign |
|
|
R1906:Folh1
|
UTSW |
7 |
86,742,166 (GRCm38) |
splice site |
probably null |
|
|
R1912:Folh1
|
UTSW |
7 |
86,762,967 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2263:Folh1
|
UTSW |
7 |
86,719,765 (GRCm38) |
missense |
probably benign |
|
|
R3001:Folh1
|
UTSW |
7 |
86,723,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3002:Folh1
|
UTSW |
7 |
86,723,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3883:Folh1
|
UTSW |
7 |
86,775,656 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R4061:Folh1
|
UTSW |
7 |
86,756,962 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R4277:Folh1
|
UTSW |
7 |
86,762,915 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4507:Folh1
|
UTSW |
7 |
86,757,008 (GRCm38) |
missense |
probably benign |
|
|
R4627:Folh1
|
UTSW |
7 |
86,773,252 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4652:Folh1
|
UTSW |
7 |
86,744,425 (GRCm38) |
nonsense |
probably null |
|
|
R4653:Folh1
|
UTSW |
7 |
86,744,425 (GRCm38) |
nonsense |
probably null |
|
|
R4745:Folh1
|
UTSW |
7 |
86,723,274 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5571:Folh1
|
UTSW |
7 |
86,734,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6000:Folh1
|
UTSW |
7 |
86,725,934 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6307:Folh1
|
UTSW |
7 |
86,723,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6474:Folh1
|
UTSW |
7 |
86,775,756 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7112:Folh1
|
UTSW |
7 |
86,775,637 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7131:Folh1
|
UTSW |
7 |
86,726,112 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7494:Folh1
|
UTSW |
7 |
86,719,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7539:Folh1
|
UTSW |
7 |
86,725,909 (GRCm38) |
missense |
probably benign |
0.35 |
|
R7764:Folh1
|
UTSW |
7 |
86,762,918 (GRCm38) |
missense |
probably benign |
|
|
R7803:Folh1
|
UTSW |
7 |
86,726,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8105:Folh1
|
UTSW |
7 |
86,746,146 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8208:Folh1
|
UTSW |
7 |
86,725,917 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8347:Folh1
|
UTSW |
7 |
86,729,118 (GRCm38) |
nonsense |
probably null |
|
|
R9130:Folh1
|
UTSW |
7 |
86,719,705 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9749:Folh1
|
UTSW |
7 |
86,719,700 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9764:Folh1
|
UTSW |
7 |
86,756,950 (GRCm38) |
missense |
probably benign |
0.03 |
|
RF007:Folh1
|
UTSW |
7 |
86,775,687 (GRCm38) |
missense |
probably benign |
|
|
Z1088:Folh1
|
UTSW |
7 |
86,725,954 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Folh1
|
UTSW |
7 |
86,761,822 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Folh1
|
UTSW |
7 |
86,744,447 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCTTGCATATAGCTTGC -3'
(R):5'- ACCAAGAGTTTATCAAGGAATCACC -3'
Sequencing Primer
(F):5'- TCTTGCATATAGCTTGCTTAAAAATG -3'
(R):5'- TTATCAAGGAATCACCATATAGCAAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation