Incidental Mutation 'R8347:Folh1'
| ID |
645300 |
| 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 |
067867-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8347 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
86368185-86425151 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 86378326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 529
(R529*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001824]
[ENSMUST00000107271]
|
| AlphaFold |
O35409 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001824
AA Change: R529*
|
| SMART Domains |
Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773
AA Change: R529*
| 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 null
Transcript: ENSMUST00000107271
AA Change: R496*
|
| SMART Domains |
Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773
AA Change: R496*
| 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 |
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
A |
5: 138,561,153 (GRCm39) |
I170L |
probably benign |
Het |
| Adamts15 |
C |
T |
9: 30,813,846 (GRCm39) |
R773Q |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,797,065 (GRCm39) |
L249P |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,578,201 (GRCm39) |
F499L |
probably damaging |
Het |
| Cdhr17 |
G |
A |
5: 17,006,572 (GRCm39) |
M96I |
probably benign |
Het |
| Clec12b |
C |
T |
6: 129,357,450 (GRCm39) |
|
probably null |
Het |
| Col23a1 |
G |
A |
11: 51,462,083 (GRCm39) |
G373D |
probably damaging |
Het |
| Cse1l |
C |
T |
2: 166,769,505 (GRCm39) |
T304I |
possibly damaging |
Het |
| D6Wsu163e |
T |
A |
6: 126,932,251 (GRCm39) |
L330* |
probably null |
Het |
| Dbi |
A |
C |
1: 120,048,550 (GRCm39) |
L32R |
possibly damaging |
Het |
| Dennd2c |
A |
G |
3: 103,065,025 (GRCm39) |
Y716C |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,236,812 (GRCm39) |
M379I |
possibly damaging |
Het |
| Dpys |
T |
C |
15: 39,720,709 (GRCm39) |
D17G |
probably benign |
Het |
| Dync2h1 |
C |
T |
9: 7,116,578 (GRCm39) |
S2319N |
possibly damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,695,888 (GRCm39) |
K457E |
probably damaging |
Het |
| Efs |
A |
G |
14: 55,157,241 (GRCm39) |
C357R |
probably benign |
Het |
| Egfr |
T |
A |
11: 16,828,174 (GRCm39) |
W516R |
probably damaging |
Het |
| Fsip2 |
A |
C |
2: 82,818,198 (GRCm39) |
I4644L |
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,975,903 (GRCm39) |
Y66C |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,898,110 (GRCm39) |
L730P |
probably damaging |
Het |
| Gm19668 |
T |
C |
10: 77,634,221 (GRCm39) |
*249W |
probably null |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,759,947 (GRCm39) |
D54G |
probably benign |
Het |
| Irs2 |
C |
A |
8: 11,058,000 (GRCm39) |
S144I |
possibly damaging |
Het |
| Itgb5 |
T |
C |
16: 33,761,048 (GRCm39) |
C628R |
probably damaging |
Het |
| Kcnh4 |
A |
T |
11: 100,648,575 (GRCm39) |
V43D |
probably damaging |
Het |
| Krtap16-3 |
A |
T |
16: 88,759,507 (GRCm39) |
Y69N |
unknown |
Het |
| Lcn12 |
A |
C |
2: 25,382,045 (GRCm39) |
D176E |
possibly damaging |
Het |
| Lilrb4b |
T |
A |
10: 51,357,850 (GRCm39) |
F181L |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,880,662 (GRCm39) |
H1251Q |
probably benign |
Het |
| Nppb |
C |
A |
4: 148,070,756 (GRCm39) |
L44M |
probably damaging |
Het |
| Nutm2 |
T |
C |
13: 50,626,373 (GRCm39) |
V320A |
probably benign |
Het |
| Or4b1b |
A |
T |
2: 90,112,020 (GRCm39) |
W300R |
probably benign |
Het |
| Or52a24 |
A |
G |
7: 103,381,150 (GRCm39) |
S6G |
probably benign |
Het |
| Or5ae2 |
C |
T |
7: 84,505,963 (GRCm39) |
P131S |
probably damaging |
Het |
| Or5ak4 |
T |
A |
2: 85,162,047 (GRCm39) |
H65L |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,462,719 (GRCm39) |
M301V |
probably benign |
Het |
| Pappa |
G |
A |
4: 65,245,302 (GRCm39) |
R1530Q |
probably damaging |
Het |
| Pcgf6 |
C |
T |
19: 47,034,277 (GRCm39) |
D255N |
possibly damaging |
Het |
| Pgap3 |
TCAGCAGCAGCAGCAGCAG |
TCAGCAGCAGCAGCAG |
11: 98,281,575 (GRCm39) |
|
probably benign |
Het |
| Phip |
A |
G |
9: 82,790,816 (GRCm39) |
I710T |
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,365,247 (GRCm39) |
Y108N |
probably damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Rint1 |
C |
G |
5: 24,016,770 (GRCm39) |
L512V |
probably damaging |
Het |
| Sdad1 |
A |
C |
5: 92,446,088 (GRCm39) |
F282L |
probably benign |
Het |
| Sirt5 |
G |
T |
13: 43,533,977 (GRCm39) |
A189S |
probably benign |
Het |
| Slc14a1 |
T |
C |
18: 78,154,646 (GRCm39) |
T247A |
probably benign |
Het |
| Slc22a6 |
C |
G |
19: 8,599,169 (GRCm39) |
R267G |
probably damaging |
Het |
| Slfn3 |
A |
G |
11: 83,104,415 (GRCm39) |
K429E |
possibly damaging |
Het |
| Spag17 |
T |
C |
3: 99,934,957 (GRCm39) |
F721S |
probably benign |
Het |
| Spata31d1e |
T |
A |
13: 59,890,050 (GRCm39) |
D590V |
possibly damaging |
Het |
| St3gal1 |
G |
A |
15: 66,985,511 (GRCm39) |
R48C |
probably damaging |
Het |
| Sult2a6 |
A |
G |
7: 13,959,883 (GRCm39) |
Y217H |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,060,060 (GRCm39) |
N394S |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,323,611 (GRCm39) |
Y605* |
probably null |
Het |
| Trank1 |
T |
A |
9: 111,196,317 (GRCm39) |
L1447Q |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,446 (GRCm39) |
L690P |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,376,417 (GRCm39) |
T325A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,539,811 (GRCm39) |
T34392S |
probably benign |
Het |
| Uncx |
A |
G |
5: 139,532,571 (GRCm39) |
E212G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,679,281 (GRCm39) |
T4830A |
probably benign |
Het |
| Usp34 |
C |
A |
11: 23,362,345 (GRCm39) |
T1616N |
|
Het |
| Vars1 |
C |
T |
17: 35,234,953 (GRCm39) |
L1261F |
possibly damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,434,020 (GRCm39) |
S205P |
probably damaging |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,423 (GRCm39) |
I363K |
possibly damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,064,838 (GRCm39) |
M16K |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,962,128 (GRCm39) |
T428I |
possibly damaging |
Het |
| Yeats4 |
A |
T |
10: 117,053,374 (GRCm39) |
L129Q |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,509,784 (GRCm39) |
R187G |
probably damaging |
Het |
| Zfp853 |
A |
T |
5: 143,274,702 (GRCm39) |
L321Q |
unknown |
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 |
|
R8208:Folh1
|
UTSW |
7 |
86,375,125 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- CAGGCTCAGTGTAACAAAGGC -3'
(R):5'- GTGACCTTCCATGGAATAGTATTGAAG -3'
Sequencing Primer
(F):5'- CTCAGTGTAACAAAGGCAGGAC -3'
(R):5'- GAATGAACAGAGTACTCTGAAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation