Incidental Mutation 'R1558:Fpgs'
| ID |
170394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fpgs
|
| Ensembl Gene |
ENSMUSG00000009566 |
| Gene Name |
folylpolyglutamyl synthetase |
| Synonyms |
|
| MMRRC Submission |
039597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R1558 (G1)
|
| Quality Score |
129 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32572621-32594157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32575852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 364
(T364A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009705]
[ENSMUST00000028148]
[ENSMUST00000113272]
[ENSMUST00000127812]
[ENSMUST00000167841]
[ENSMUST00000146498]
|
| AlphaFold |
P48760 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009705
|
| SMART Domains |
Protein: ENSMUSP00000009705
Gene: ENSMUSG00000026814
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
346 |
N/A |
INTRINSIC |
|
ZP
|
362 |
569 |
1.29e-2 |
SMART |
|
transmembrane domain
|
587 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
634 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028148
AA Change: T364A
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000028148
Gene: ENSMUSG00000009566
AA Change: T364A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SCOP:d1jbwa2
|
43 |
327 |
1e-59 |
SMART |
|
PDB:1O5Z|A
|
99 |
389 |
2e-37 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113272
|
| SMART Domains |
Protein: ENSMUSP00000108897
Gene: ENSMUSG00000026814
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
345 |
N/A |
INTRINSIC |
|
ZP
|
361 |
568 |
1.29e-2 |
SMART |
|
transmembrane domain
|
586 |
608 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
633 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123171
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127812
|
| SMART Domains |
Protein: ENSMUSP00000116434
Gene: ENSMUSG00000009566
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jbwa2
|
40 |
243 |
3e-48 |
SMART |
|
PDB:1O5Z|A
|
56 |
243 |
4e-30 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185043
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142186
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156792
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167841
|
| SMART Domains |
Protein: ENSMUSP00000130585
Gene: ENSMUSG00000026814
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
346 |
N/A |
INTRINSIC |
|
ZP
|
362 |
569 |
1.29e-2 |
SMART |
|
transmembrane domain
|
587 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
625 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156306
|
| SMART Domains |
Protein: ENSMUSP00000122186
Gene: ENSMUSG00000026814
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
36 |
N/A |
INTRINSIC |
|
ZP
|
52 |
283 |
1.23e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146498
|
| SMART Domains |
Protein: ENSMUSP00000141899
Gene: ENSMUSG00000009566
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jbwa2
|
40 |
126 |
2e-14 |
SMART |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, therefore, is essential for folate homeostasis and the survival of proliferating cells. This enzyme catalyzes the ATP-dependent addition of glutamate moieties to folate and folate derivatives. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
A |
4: 53,092,887 (GRCm39) |
Q299L |
probably null |
Het |
| Adamts9 |
T |
G |
6: 92,885,692 (GRCm39) |
K399N |
possibly damaging |
Het |
| Alox12b |
T |
C |
11: 69,056,711 (GRCm39) |
F369S |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,483,301 (GRCm39) |
Y236H |
probably benign |
Het |
| Ankrd36 |
T |
C |
11: 5,585,329 (GRCm39) |
L380P |
probably damaging |
Het |
| Atp2a1 |
C |
T |
7: 126,051,844 (GRCm39) |
A468T |
possibly damaging |
Het |
| Caprin1 |
A |
T |
2: 103,606,332 (GRCm39) |
F303I |
possibly damaging |
Het |
| Casp7 |
A |
T |
19: 56,421,684 (GRCm39) |
R41* |
probably null |
Het |
| Ccdc66 |
T |
A |
14: 27,208,463 (GRCm39) |
H753L |
probably benign |
Het |
| Ccnc |
T |
C |
4: 21,742,671 (GRCm39) |
M166T |
probably benign |
Het |
| Cdkl3 |
T |
A |
11: 51,923,337 (GRCm39) |
M538K |
possibly damaging |
Het |
| Cemip2 |
T |
A |
19: 21,775,346 (GRCm39) |
Y196* |
probably null |
Het |
| Cercam |
G |
A |
2: 29,766,251 (GRCm39) |
A345T |
probably benign |
Het |
| Chmp3 |
T |
A |
6: 71,537,954 (GRCm39) |
C60* |
probably null |
Het |
| Ddx1 |
C |
T |
12: 13,289,542 (GRCm39) |
G125S |
probably damaging |
Het |
| Defb7 |
A |
G |
8: 19,547,567 (GRCm39) |
D24G |
probably benign |
Het |
| Dgcr8 |
A |
T |
16: 18,077,452 (GRCm39) |
Y653N |
probably damaging |
Het |
| Dsc2 |
T |
C |
18: 20,183,208 (GRCm39) |
D70G |
probably damaging |
Het |
| Erich3 |
T |
G |
3: 154,419,705 (GRCm39) |
N266K |
probably damaging |
Het |
| Fastk |
A |
T |
5: 24,649,045 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
G |
3: 38,943,135 (GRCm39) |
N676S |
probably damaging |
Het |
| Fermt1 |
A |
T |
2: 132,776,739 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,523,463 (GRCm39) |
T1149A |
possibly damaging |
Het |
| Foxo3 |
A |
G |
10: 42,073,068 (GRCm39) |
V483A |
probably damaging |
Het |
| Gm12185 |
A |
G |
11: 48,806,262 (GRCm39) |
S310P |
probably damaging |
Het |
| Gm15056 |
A |
T |
8: 21,391,949 (GRCm39) |
|
probably benign |
Het |
| Hcn1 |
T |
C |
13: 118,112,112 (GRCm39) |
V692A |
unknown |
Het |
| Izumo3 |
A |
C |
4: 92,035,140 (GRCm39) |
C26G |
probably damaging |
Het |
| Kcnf1 |
T |
C |
12: 17,225,474 (GRCm39) |
Y249C |
probably damaging |
Het |
| Kcnj6 |
T |
C |
16: 94,563,358 (GRCm39) |
E380G |
possibly damaging |
Het |
| Kdm3b |
A |
G |
18: 34,942,149 (GRCm39) |
T747A |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,258,622 (GRCm39) |
G1370R |
probably damaging |
Het |
| Mei1 |
G |
A |
15: 81,991,334 (GRCm39) |
R504Q |
probably damaging |
Het |
| Mgat4f |
G |
A |
1: 134,318,512 (GRCm39) |
G428D |
probably damaging |
Het |
| Mipol1 |
T |
C |
12: 57,379,127 (GRCm39) |
I195T |
probably damaging |
Het |
| Ncor2 |
G |
A |
5: 125,110,610 (GRCm39) |
T1350I |
probably damaging |
Het |
| Npy |
A |
G |
6: 49,800,705 (GRCm39) |
E43G |
probably damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,603 (GRCm39) |
I273F |
probably benign |
Het |
| Or5w19 |
T |
A |
2: 87,698,459 (GRCm39) |
N41K |
probably damaging |
Het |
| Or8d2 |
T |
A |
9: 38,760,200 (GRCm39) |
N263K |
probably benign |
Het |
| Pcdhb3 |
T |
C |
18: 37,434,634 (GRCm39) |
L200P |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,258,756 (GRCm39) |
H570Y |
possibly damaging |
Het |
| Phf8-ps |
T |
A |
17: 33,284,679 (GRCm39) |
I708F |
probably benign |
Het |
| Pkd1l2 |
A |
C |
8: 117,808,991 (GRCm39) |
D66E |
possibly damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,108,467 (GRCm39) |
D1170G |
possibly damaging |
Het |
| Poln |
T |
A |
5: 34,190,143 (GRCm39) |
H672L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,479,904 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Ptrhd1 |
A |
G |
12: 4,286,505 (GRCm39) |
Y132C |
probably damaging |
Het |
| Pwwp3a |
G |
T |
10: 80,068,778 (GRCm39) |
R307S |
probably benign |
Het |
| Riok1 |
G |
T |
13: 38,234,831 (GRCm39) |
R300L |
probably damaging |
Het |
| Sbf2 |
G |
T |
7: 110,027,553 (GRCm39) |
T481K |
probably damaging |
Het |
| Sidt2 |
A |
T |
9: 45,863,098 (GRCm39) |
M11K |
probably damaging |
Het |
| Slc66a1 |
A |
T |
4: 139,027,391 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,299,280 (GRCm39) |
R992* |
probably null |
Het |
| Tmem8b |
C |
A |
4: 43,681,134 (GRCm39) |
R384S |
possibly damaging |
Het |
| Trim28 |
T |
C |
7: 12,761,761 (GRCm39) |
Y243H |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,764,192 (GRCm39) |
M266T |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,539,437 (GRCm39) |
S368T |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Ttc6 |
G |
A |
12: 57,733,132 (GRCm39) |
V1092I |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,534,465 (GRCm39) |
T927I |
probably damaging |
Het |
| Zfr |
C |
T |
15: 12,140,730 (GRCm39) |
T259I |
unknown |
Het |
|
| Other mutations in Fpgs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Fpgs
|
APN |
2 |
32,576,559 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00493:Fpgs
|
APN |
2 |
32,578,009 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02397:Fpgs
|
APN |
2 |
32,575,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02867:Fpgs
|
APN |
2 |
32,575,891 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02889:Fpgs
|
APN |
2 |
32,575,891 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03082:Fpgs
|
APN |
2 |
32,575,769 (GRCm39) |
nonsense |
probably null |
|
|
IGL03126:Fpgs
|
APN |
2 |
32,573,135 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0243:Fpgs
|
UTSW |
2 |
32,582,506 (GRCm39) |
nonsense |
probably null |
|
|
R0312:Fpgs
|
UTSW |
2 |
32,574,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1326:Fpgs
|
UTSW |
2 |
32,582,592 (GRCm39) |
splice site |
probably null |
|
|
R1624:Fpgs
|
UTSW |
2 |
32,581,200 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1934:Fpgs
|
UTSW |
2 |
32,577,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3706:Fpgs
|
UTSW |
2 |
32,578,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4439:Fpgs
|
UTSW |
2 |
32,577,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4440:Fpgs
|
UTSW |
2 |
32,577,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4868:Fpgs
|
UTSW |
2 |
32,582,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4979:Fpgs
|
UTSW |
2 |
32,577,379 (GRCm39) |
unclassified |
probably benign |
|
|
R5279:Fpgs
|
UTSW |
2 |
32,582,779 (GRCm39) |
intron |
probably benign |
|
|
R6337:Fpgs
|
UTSW |
2 |
32,577,953 (GRCm39) |
nonsense |
probably null |
|
|
R6648:Fpgs
|
UTSW |
2 |
32,574,799 (GRCm39) |
nonsense |
probably null |
|
|
R6668:Fpgs
|
UTSW |
2 |
32,577,618 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6768:Fpgs
|
UTSW |
2 |
32,576,635 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7134:Fpgs
|
UTSW |
2 |
32,576,641 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7360:Fpgs
|
UTSW |
2 |
32,584,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7868:Fpgs
|
UTSW |
2 |
32,573,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8957:Fpgs
|
UTSW |
2 |
32,575,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9081:Fpgs
|
UTSW |
2 |
32,577,500 (GRCm39) |
unclassified |
probably benign |
|
|
Z1176:Fpgs
|
UTSW |
2 |
32,582,672 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCTGTACCATGTAGCGGCATCAC -3'
(R):5'- AGCAGGACAGCTCATTCCAGGAAC -3'
Sequencing Primer
(F):5'- ATCAGCCCTAAGGGGGTTATTAC -3'
(R):5'- CCCAGAGACAGCCATTAGTAAGTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation