Incidental Mutation 'R2386:Ftcd'
| ID |
247701 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2386 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
76411482-76426172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 76417211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 240
(D240A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001183]
|
| AlphaFold |
Q91XD4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001183
AA Change: D240A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001183
Gene: ENSMUSG00000001155
AA Change: D240A
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.7%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,328,575 (GRCm39) |
D2G |
probably damaging |
Het |
| Btnl9 |
A |
G |
11: 49,069,602 (GRCm39) |
S226P |
probably damaging |
Het |
| Canx |
A |
T |
11: 50,187,933 (GRCm39) |
D558E |
probably benign |
Het |
| Cd248 |
G |
T |
19: 5,119,221 (GRCm39) |
M356I |
possibly damaging |
Het |
| Col1a1 |
A |
T |
11: 94,841,217 (GRCm39) |
D1200V |
unknown |
Het |
| Dgat2 |
A |
C |
7: 98,806,300 (GRCm39) |
V299G |
possibly damaging |
Het |
| Ercc6 |
G |
A |
14: 32,263,316 (GRCm39) |
|
probably null |
Het |
| Fgfr4 |
T |
C |
13: 55,315,714 (GRCm39) |
V747A |
probably benign |
Het |
| Hs3st3b1 |
C |
A |
11: 63,780,039 (GRCm39) |
E363* |
probably null |
Het |
| Ikbke |
A |
G |
1: 131,187,003 (GRCm39) |
L563P |
probably damaging |
Het |
| Lbhd2 |
A |
T |
12: 111,376,741 (GRCm39) |
T63S |
possibly damaging |
Het |
| Mterf1a |
A |
T |
5: 3,941,225 (GRCm39) |
D214E |
probably benign |
Het |
| Or5p53 |
A |
G |
7: 107,533,480 (GRCm39) |
Y251C |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,815,261 (GRCm39) |
E4511G |
unknown |
Het |
| Pigs |
A |
G |
11: 78,223,812 (GRCm39) |
Y108C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,391,574 (GRCm39) |
T1547A |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Rad54b |
T |
A |
4: 11,597,874 (GRCm39) |
M253K |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,859,723 (GRCm39) |
D1080G |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,196,740 (GRCm39) |
Y298H |
probably damaging |
Het |
| Tdrd9 |
A |
T |
12: 111,982,334 (GRCm39) |
D475V |
probably damaging |
Het |
| Tmem131 |
G |
A |
1: 36,868,716 (GRCm39) |
H370Y |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCATCTGGCTAGGAAACAC -3'
(R):5'- TTGTCACAGTAGAAGGCTGC -3'
Sequencing Primer
(F):5'- TCTGGCTAGGAAACACAAGTC -3'
(R):5'- CATCCAGTAAGGCCTTCAGAGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation