Incidental Mutation 'R6768:Fpgs'
| ID |
532025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fpgs
|
| Ensembl Gene |
ENSMUSG00000009566 |
| Gene Name |
folylpolyglutamyl synthetase |
| Synonyms |
|
| MMRRC Submission |
044884-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R6768 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32572621-32594157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32576635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 331
(S331P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009705]
[ENSMUST00000028148]
[ENSMUST00000113272]
[ENSMUST00000127812]
[ENSMUST00000146498]
[ENSMUST00000167841]
|
| 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 |
probably benign
Transcript: ENSMUST00000028148
AA Change: S331P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000028148
Gene: ENSMUSG00000009566
AA Change: S331P
| 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 |
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 |
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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.2267 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.2%
|
| Validation Efficiency |
96% (45/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
G |
A |
12: 113,453,863 (GRCm39) |
V227I |
probably benign |
Het |
| Agtrap |
A |
G |
4: 148,166,067 (GRCm39) |
V106A |
probably benign |
Het |
| Aldh3a2 |
A |
C |
11: 61,144,536 (GRCm39) |
S341A |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,292,749 (GRCm39) |
C353S |
probably damaging |
Het |
| Casq1 |
C |
T |
1: 172,047,245 (GRCm39) |
D5N |
probably benign |
Het |
| Ccin |
G |
A |
4: 43,984,574 (GRCm39) |
R327H |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,085,390 (GRCm39) |
V252A |
probably damaging |
Het |
| Colec11 |
T |
C |
12: 28,645,100 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
G |
A |
19: 37,002,432 (GRCm39) |
T643I |
possibly damaging |
Het |
| Cstpp1 |
A |
T |
2: 91,252,303 (GRCm39) |
H19Q |
probably damaging |
Het |
| Ctcfl |
A |
G |
2: 172,959,084 (GRCm39) |
V214A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,220,793 (GRCm39) |
E2199G |
probably damaging |
Het |
| Eno2 |
T |
C |
6: 124,744,711 (GRCm39) |
E45G |
probably damaging |
Het |
| Foxa2 |
T |
C |
2: 147,885,747 (GRCm39) |
H181R |
probably damaging |
Het |
| Gm47189 |
A |
G |
14: 41,492,035 (GRCm39) |
S81P |
probably benign |
Het |
| Igsf8 |
C |
A |
1: 172,145,099 (GRCm39) |
P142Q |
probably damaging |
Het |
| Islr |
G |
T |
9: 58,064,893 (GRCm39) |
Q205K |
possibly damaging |
Het |
| Josd1 |
A |
G |
15: 79,561,323 (GRCm39) |
W162R |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,390,949 (GRCm39) |
T1492I |
probably benign |
Het |
| Meox1 |
A |
G |
11: 101,770,161 (GRCm39) |
F189L |
probably damaging |
Het |
| Mtf1 |
G |
A |
4: 124,731,578 (GRCm39) |
D385N |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,314,832 (GRCm39) |
C315* |
probably null |
Het |
| Ncaph2 |
T |
A |
15: 89,248,202 (GRCm39) |
Y166* |
probably null |
Het |
| Nr1i3 |
G |
A |
1: 171,044,966 (GRCm39) |
V270M |
probably damaging |
Het |
| Or11h4b |
A |
G |
14: 50,919,049 (GRCm39) |
L14S |
probably damaging |
Het |
| Or13c7 |
T |
C |
4: 43,854,351 (GRCm39) |
I14T |
probably benign |
Het |
| Panx3 |
T |
C |
9: 37,575,322 (GRCm39) |
K180R |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Reln |
A |
C |
5: 22,183,905 (GRCm39) |
V1698G |
probably damaging |
Het |
| Rnf213 |
G |
T |
11: 119,333,062 (GRCm39) |
R2757L |
probably damaging |
Het |
| Scgb2b26 |
G |
T |
7: 33,644,379 (GRCm39) |
T4K |
probably damaging |
Het |
| Sdhb |
A |
G |
4: 140,706,364 (GRCm39) |
E267G |
probably damaging |
Het |
| Sorbs1 |
A |
T |
19: 40,315,991 (GRCm39) |
N383K |
probably damaging |
Het |
| Stk11ip |
T |
A |
1: 75,509,279 (GRCm39) |
C766S |
probably benign |
Het |
| Taf6l |
A |
C |
19: 8,751,913 (GRCm39) |
S592A |
probably damaging |
Het |
| Tmem145 |
G |
A |
7: 25,008,061 (GRCm39) |
G235D |
probably damaging |
Het |
| Tuba3b |
T |
A |
6: 145,564,455 (GRCm39) |
|
probably null |
Het |
| Ubl7 |
A |
T |
9: 57,820,045 (GRCm39) |
E32D |
probably benign |
Het |
| Vmn1r168 |
A |
T |
7: 23,240,460 (GRCm39) |
T106S |
probably damaging |
Het |
| Vmn2r59 |
C |
A |
7: 41,661,392 (GRCm39) |
V808F |
probably benign |
Het |
| Vmn2r61 |
C |
T |
7: 41,949,748 (GRCm39) |
P723S |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Zfp11 |
G |
T |
5: 129,735,415 (GRCm39) |
D15E |
probably benign |
Het |
| Zfp428 |
G |
A |
7: 24,214,908 (GRCm39) |
G162R |
probably damaging |
Het |
| Zfp629 |
G |
A |
7: 127,209,997 (GRCm39) |
T604I |
probably benign |
Het |
| Zfpm1 |
C |
A |
8: 123,061,195 (GRCm39) |
D253E |
probably damaging |
Het |
| Zhx1 |
G |
T |
15: 57,917,499 (GRCm39) |
T249K |
probably benign |
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 |
|
|
R1558:Fpgs
|
UTSW |
2 |
32,575,852 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
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 |
|
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'- TAGGCCAGAGAGGAATGCTCAC -3'
(R):5'- TAATGCTGCCTTGGCCTTG -3'
Sequencing Primer
(F):5'- AGAGGAATGCTCACCCCGAG -3'
(R):5'- TTGCAGCTGGCCCACTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation