Incidental Mutation 'IGL03077:Ftcd'
ID |
417734 |
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? |
Probably non essential
(E-score: 0.197)
|
Stock # |
IGL03077
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
76411482-76426172 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76417461 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 300
(I300T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001183]
|
AlphaFold |
Q91XD4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001183
AA Change: I300T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000001183 Gene: ENSMUSG00000001155 AA Change: I300T
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
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
A |
G |
17: 84,999,308 (GRCm39) |
N135D |
probably damaging |
Het |
Ak4 |
T |
C |
4: 101,277,148 (GRCm39) |
L44P |
probably damaging |
Het |
Angpt1 |
C |
A |
15: 42,339,818 (GRCm39) |
G298* |
probably null |
Het |
Appl2 |
C |
T |
10: 83,457,623 (GRCm39) |
|
probably benign |
Het |
Arhgap19 |
T |
A |
19: 41,769,760 (GRCm39) |
H341L |
probably benign |
Het |
Chmp5 |
T |
C |
4: 40,952,438 (GRCm39) |
S98P |
probably benign |
Het |
Chp1 |
A |
T |
2: 119,415,081 (GRCm39) |
Q161L |
probably benign |
Het |
Clgn |
T |
C |
8: 84,150,769 (GRCm39) |
V478A |
probably benign |
Het |
Cplane1 |
G |
A |
15: 8,242,279 (GRCm39) |
|
probably benign |
Het |
Cyp2b19 |
A |
T |
7: 26,461,809 (GRCm39) |
M210L |
probably benign |
Het |
Eif4g3 |
T |
A |
4: 137,853,166 (GRCm39) |
V244D |
probably damaging |
Het |
Gm12886 |
C |
T |
4: 121,272,697 (GRCm39) |
|
probably benign |
Het |
Klrb1f |
A |
T |
6: 129,030,765 (GRCm39) |
E92V |
probably null |
Het |
Krt23 |
A |
G |
11: 99,374,700 (GRCm39) |
|
probably benign |
Het |
Mib2 |
T |
G |
4: 155,743,900 (GRCm39) |
R47S |
probably benign |
Het |
Mindy4 |
A |
G |
6: 55,286,315 (GRCm39) |
T728A |
probably damaging |
Het |
Myh15 |
A |
G |
16: 48,916,901 (GRCm39) |
N407S |
probably benign |
Het |
Nlrp4f |
A |
G |
13: 65,342,412 (GRCm39) |
V411A |
probably benign |
Het |
Or10ag56 |
T |
C |
2: 87,140,056 (GRCm39) |
*328Q |
probably null |
Het |
Or4c12b |
A |
C |
2: 89,647,486 (GRCm39) |
D266A |
probably damaging |
Het |
Otud4 |
T |
G |
8: 80,400,087 (GRCm39) |
S934A |
probably damaging |
Het |
P3h1 |
C |
T |
4: 119,093,983 (GRCm39) |
R213W |
probably damaging |
Het |
Phrf1 |
A |
T |
7: 140,834,881 (GRCm39) |
K19* |
probably null |
Het |
Prl3b1 |
A |
T |
13: 27,429,759 (GRCm39) |
M66L |
probably benign |
Het |
Psmd7 |
T |
C |
8: 108,309,099 (GRCm39) |
T149A |
probably benign |
Het |
Samd4b |
T |
C |
7: 28,105,868 (GRCm39) |
D450G |
probably damaging |
Het |
Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
Snrpa |
G |
A |
7: 26,891,186 (GRCm39) |
T95I |
probably benign |
Het |
Traip |
A |
G |
9: 107,840,125 (GRCm39) |
|
probably benign |
Het |
Trbc1 |
T |
A |
6: 41,515,383 (GRCm39) |
|
probably benign |
Het |
Trim72 |
A |
T |
7: 127,607,013 (GRCm39) |
M181L |
probably benign |
Het |
Ttc41 |
T |
C |
10: 86,594,212 (GRCm39) |
Y882H |
probably damaging |
Het |
Vmn1r191 |
A |
C |
13: 22,363,316 (GRCm39) |
I146S |
probably benign |
Het |
Vmn2r9 |
G |
T |
5: 108,996,173 (GRCm39) |
|
probably benign |
Het |
Vps13a |
A |
G |
19: 16,688,246 (GRCm39) |
S854P |
probably benign |
Het |
Wdfy1 |
T |
C |
1: 79,692,622 (GRCm39) |
K232E |
possibly damaging |
Het |
Xpr1 |
A |
T |
1: 155,156,774 (GRCm39) |
D625E |
possibly damaging |
Het |
Zbbx |
T |
A |
3: 74,989,153 (GRCm39) |
T317S |
possibly damaging |
Het |
|
Other mutations in Ftcd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01468:Ftcd
|
APN |
10 |
76,420,421 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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 |
2016-08-02 |