Incidental Mutation 'R8250:Ftcd'
| ID |
640292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ftcd
|
| Ensembl Gene |
ENSMUSG00000001155 |
| Gene Name |
formiminotransferase cyclodeaminase |
| Synonyms |
glutamate formiminotransferase |
| MMRRC Submission |
067676-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R8250 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
76411482-76426172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 76417461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 300
(I300R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001183]
|
| AlphaFold |
Q91XD4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001183
AA Change: I300R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001183
Gene: ENSMUSG00000001155
AA Change: I300R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 86,260,846 (GRCm39) |
E1027V |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,627,908 (GRCm39) |
G238R |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 36,971,811 (GRCm39) |
S515P |
probably damaging |
Het |
| Ccdc27 |
A |
T |
4: 154,126,245 (GRCm39) |
D81E |
unknown |
Het |
| Csrnp3 |
A |
G |
2: 65,852,562 (GRCm39) |
E330G |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
| Fxr1 |
T |
A |
3: 34,101,178 (GRCm39) |
Y161* |
probably null |
Het |
| Gabrg2 |
C |
T |
11: 41,858,379 (GRCm39) |
V250I |
probably benign |
Het |
| Gmcl1 |
T |
C |
6: 86,698,384 (GRCm39) |
D171G |
possibly damaging |
Het |
| Grk2 |
A |
G |
19: 4,339,962 (GRCm39) |
F375S |
probably damaging |
Het |
| Kat2b |
T |
A |
17: 53,970,564 (GRCm39) |
I650N |
probably damaging |
Het |
| Lhfpl6 |
T |
C |
3: 52,950,759 (GRCm39) |
I11T |
probably benign |
Het |
| Mbtd1 |
A |
G |
11: 93,801,176 (GRCm39) |
Y141C |
probably damaging |
Het |
| Mon1b |
A |
T |
8: 114,366,351 (GRCm39) |
E449V |
probably damaging |
Het |
| Mrpl47 |
T |
C |
3: 32,785,382 (GRCm39) |
N112S |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,767,392 (GRCm39) |
H865Q |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,351,310 (GRCm39) |
N1895S |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,879,318 (GRCm39) |
I693V |
probably benign |
Het |
| Oip5 |
A |
G |
2: 119,446,110 (GRCm39) |
S133P |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,586,566 (GRCm39) |
I95V |
probably damaging |
Het |
| Or10v1 |
A |
T |
19: 11,873,741 (GRCm39) |
M119L |
probably damaging |
Het |
| Or52l1 |
T |
C |
7: 104,830,518 (GRCm39) |
M16V |
|
Het |
| Or8k20 |
T |
C |
2: 86,106,498 (GRCm39) |
E111G |
probably damaging |
Het |
| P2rx3 |
A |
C |
2: 84,852,735 (GRCm39) |
V221G |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,556 (GRCm39) |
N56S |
possibly damaging |
Het |
| Psmd11 |
T |
C |
11: 80,336,752 (GRCm39) |
S135P |
possibly damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Sall3 |
T |
C |
18: 81,016,743 (GRCm39) |
D395G |
probably benign |
Het |
| Scube2 |
T |
C |
7: 109,463,377 (GRCm39) |
N62S |
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,423,182 (GRCm39) |
S275T |
probably damaging |
Het |
| Sirpb1a |
A |
T |
3: 15,444,104 (GRCm39) |
L382Q |
possibly damaging |
Het |
| Snrpn |
T |
A |
7: 59,636,633 (GRCm39) |
|
probably null |
Het |
| Sox5 |
A |
T |
6: 144,100,777 (GRCm39) |
S71T |
possibly damaging |
Het |
| Synpo2l |
G |
T |
14: 20,712,344 (GRCm39) |
T321K |
probably benign |
Het |
| Tex15 |
G |
A |
8: 34,055,233 (GRCm39) |
E285K |
probably null |
Het |
| Tmem126b |
G |
A |
7: 90,118,317 (GRCm39) |
L188F |
probably damaging |
Het |
| Ttll2 |
T |
C |
17: 7,618,767 (GRCm39) |
T387A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,667,155 (GRCm39) |
Y11484H |
unknown |
Het |
| Vmn2r76 |
T |
A |
7: 85,875,231 (GRCm39) |
Y582F |
possibly damaging |
Het |
| Zfp786 |
A |
T |
6: 47,797,729 (GRCm39) |
L403Q |
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 |
|
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 |
|
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'- CTTCTGACACACCCGGAG -3'
(R):5'- AAATGGAAACTCTTCTAATCACAAGT -3'
Sequencing Primer
(F):5'- GGAGGCACTGATCTCACCTTTG -3'
(R):5'- AGCCTACTTAGTGAGTTCCAGTCAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation