Incidental Mutation 'IGL01468:Ftcd'
ID |
88162 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ftcd
|
Ensembl Gene |
ENSMUSG00000001155 |
Gene Name |
formiminotransferase cyclodeaminase |
Synonyms |
glutamate formiminotransferase |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
IGL01468
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
76411482-76426172 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76420421 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 385
(D385G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001183]
|
AlphaFold |
Q91XD4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001183
AA Change: D385G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000001183 Gene: ENSMUSG00000001155 AA Change: D385G
Domain | Start | End | E-Value | Type |
FTCD_N
|
3 |
180 |
1.6e-120 |
SMART |
FTCD
|
181 |
325 |
6.92e-93 |
SMART |
Pfam:FTCD_C
|
339 |
520 |
1.3e-68 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137347
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146344
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
A |
10: 79,839,711 (GRCm39) |
V781I |
probably benign |
Het |
Aldh5a1 |
G |
T |
13: 25,095,536 (GRCm39) |
|
probably benign |
Het |
Arhgap12 |
T |
C |
18: 6,057,576 (GRCm39) |
T435A |
probably benign |
Het |
Atrnl1 |
G |
A |
19: 57,688,144 (GRCm39) |
V870I |
probably benign |
Het |
Cerkl |
A |
T |
2: 79,173,559 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
T |
A |
6: 47,248,305 (GRCm39) |
L13* |
probably null |
Het |
Cr2 |
G |
A |
1: 194,850,843 (GRCm39) |
P208S |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,908,612 (GRCm39) |
D1075G |
probably benign |
Het |
Dhx57 |
T |
A |
17: 80,563,039 (GRCm39) |
K863* |
probably null |
Het |
Dnaaf5 |
C |
A |
5: 139,137,235 (GRCm39) |
|
probably null |
Het |
Fbxw7 |
T |
A |
3: 84,879,806 (GRCm39) |
I336K |
probably benign |
Het |
Gm10153 |
T |
C |
7: 141,743,778 (GRCm39) |
S117G |
unknown |
Het |
Gzmb |
T |
C |
14: 56,497,772 (GRCm39) |
Y156C |
probably benign |
Het |
Herc3 |
T |
A |
6: 58,831,880 (GRCm39) |
D83E |
probably benign |
Het |
Kif2b |
A |
G |
11: 91,467,191 (GRCm39) |
V364A |
probably damaging |
Het |
Mknk2 |
A |
G |
10: 80,503,498 (GRCm39) |
|
probably benign |
Het |
Or7a36 |
A |
T |
10: 78,819,696 (GRCm39) |
Q24L |
probably damaging |
Het |
Pgm1 |
A |
T |
4: 99,819,367 (GRCm39) |
N197I |
possibly damaging |
Het |
Prss39 |
C |
T |
1: 34,538,481 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
T |
C |
5: 93,088,201 (GRCm39) |
V236A |
probably damaging |
Het |
Slc17a8 |
C |
T |
10: 89,427,883 (GRCm39) |
|
probably null |
Het |
Slc24a3 |
A |
G |
2: 145,455,500 (GRCm39) |
Y463C |
probably benign |
Het |
Slc4a7 |
A |
G |
14: 14,737,480 (GRCm38) |
E149G |
probably damaging |
Het |
Synj1 |
G |
A |
16: 90,807,060 (GRCm39) |
|
probably benign |
Het |
Tas2r138 |
T |
A |
6: 40,589,410 (GRCm39) |
M279L |
probably benign |
Het |
Terb1 |
A |
G |
8: 105,208,799 (GRCm39) |
|
probably benign |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Trmt5 |
C |
T |
12: 73,327,878 (GRCm39) |
V442I |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,840,071 (GRCm39) |
I383V |
possibly damaging |
Het |
Uchl4 |
A |
G |
9: 64,142,998 (GRCm39) |
T160A |
possibly damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,182,382 (GRCm39) |
M439K |
possibly damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Vmn2r52 |
A |
T |
7: 9,892,868 (GRCm39) |
L757Q |
probably damaging |
Het |
Zfp518a |
T |
C |
19: 40,904,475 (GRCm39) |
V1468A |
probably benign |
Het |
Zxdc |
A |
T |
6: 90,350,761 (GRCm39) |
E404V |
probably damaging |
Het |
|
Other mutations in Ftcd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01683:Ftcd
|
APN |
10 |
76,415,963 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02478:Ftcd
|
APN |
10 |
76,417,255 (GRCm39) |
nonsense |
probably null |
|
IGL02664:Ftcd
|
APN |
10 |
76,420,439 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03077:Ftcd
|
APN |
10 |
76,417,461 (GRCm39) |
missense |
probably damaging |
0.99 |
R1199:Ftcd
|
UTSW |
10 |
76,415,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R1771:Ftcd
|
UTSW |
10 |
76,423,202 (GRCm39) |
missense |
probably damaging |
0.98 |
R1876:Ftcd
|
UTSW |
10 |
76,417,403 (GRCm39) |
missense |
probably benign |
0.26 |
R2260:Ftcd
|
UTSW |
10 |
76,423,893 (GRCm39) |
splice site |
probably null |
|
R2386:Ftcd
|
UTSW |
10 |
76,417,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R4578:Ftcd
|
UTSW |
10 |
76,425,092 (GRCm39) |
missense |
probably benign |
|
R4951:Ftcd
|
UTSW |
10 |
76,420,517 (GRCm39) |
missense |
probably benign |
0.15 |
R5479:Ftcd
|
UTSW |
10 |
76,413,850 (GRCm39) |
missense |
probably benign |
0.00 |
R5524:Ftcd
|
UTSW |
10 |
76,425,165 (GRCm39) |
utr 3 prime |
probably benign |
|
R5567:Ftcd
|
UTSW |
10 |
76,423,967 (GRCm39) |
missense |
probably benign |
0.20 |
R5655:Ftcd
|
UTSW |
10 |
76,423,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R6776:Ftcd
|
UTSW |
10 |
76,425,073 (GRCm39) |
missense |
probably benign |
0.09 |
R7449:Ftcd
|
UTSW |
10 |
76,415,997 (GRCm39) |
missense |
probably benign |
0.02 |
R8183:Ftcd
|
UTSW |
10 |
76,411,541 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R8250:Ftcd
|
UTSW |
10 |
76,417,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R8284:Ftcd
|
UTSW |
10 |
76,413,893 (GRCm39) |
missense |
probably benign |
0.25 |
R9023:Ftcd
|
UTSW |
10 |
76,417,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R9207:Ftcd
|
UTSW |
10 |
76,422,973 (GRCm39) |
missense |
probably benign |
|
R9417:Ftcd
|
UTSW |
10 |
76,417,153 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-11-18 |