Incidental Mutation 'IGL03275:Ftdc1'
| ID |
415395 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ftdc1
|
| Ensembl Gene |
ENSMUSG00000075002 |
| Gene Name |
ferritin domain containing 1 |
| Synonyms |
Gm813, LOC328695, LOC385656 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL03275
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
58434049-58437341 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58436119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 68
(Y68C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099663]
|
| AlphaFold |
Q3UWK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099663
AA Change: Y68C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097255
Gene: ENSMUSG00000075002
AA Change: Y68C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ferritin
|
14 |
152 |
7.4e-16 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
T |
A |
8: 73,198,968 (GRCm39) |
L125H |
probably damaging |
Het |
| 2210408I21Rik |
A |
T |
13: 77,446,674 (GRCm39) |
T816S |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,415,033 (GRCm39) |
I1438N |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,869,219 (GRCm39) |
Y134H |
probably damaging |
Het |
| Btnl1 |
A |
T |
17: 34,604,486 (GRCm39) |
K422N |
probably damaging |
Het |
| Ccdc158 |
T |
A |
5: 92,777,491 (GRCm39) |
I941F |
probably benign |
Het |
| Crnn |
A |
G |
3: 93,056,725 (GRCm39) |
K504E |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,207,106 (GRCm39) |
I1308L |
probably benign |
Het |
| Cwf19l1 |
T |
C |
19: 44,111,696 (GRCm39) |
M246V |
probably benign |
Het |
| Desi1 |
T |
A |
15: 81,887,963 (GRCm39) |
I36F |
probably damaging |
Het |
| Foxf2 |
A |
G |
13: 31,810,514 (GRCm39) |
N151S |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,305,376 (GRCm39) |
V35A |
possibly damaging |
Het |
| Gabrg3 |
T |
C |
7: 56,423,095 (GRCm39) |
Y201C |
probably damaging |
Het |
| Grb10 |
T |
A |
11: 11,883,591 (GRCm39) |
T500S |
possibly damaging |
Het |
| Hsdl2 |
A |
G |
4: 59,617,747 (GRCm39) |
*371W |
probably null |
Het |
| Irf7 |
C |
A |
7: 140,845,059 (GRCm39) |
R49L |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,060,375 (GRCm39) |
|
probably benign |
Het |
| Jam3 |
T |
C |
9: 27,012,545 (GRCm39) |
T201A |
probably damaging |
Het |
| Msantd5f6 |
T |
A |
4: 73,321,653 (GRCm39) |
R127S |
possibly damaging |
Het |
| Mst1 |
T |
C |
9: 107,961,587 (GRCm39) |
S606P |
possibly damaging |
Het |
| Or5p59 |
T |
A |
7: 107,702,815 (GRCm39) |
C100S |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,955,654 (GRCm39) |
E2800G |
probably damaging |
Het |
| Ptpro |
C |
T |
6: 137,427,004 (GRCm39) |
P292S |
probably damaging |
Het |
| Rab10 |
A |
T |
12: 3,306,959 (GRCm39) |
Y79N |
probably damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,787,125 (GRCm39) |
|
probably null |
Het |
| Slc2a3 |
C |
T |
6: 122,713,701 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
T |
C |
19: 4,782,689 (GRCm39) |
Y542H |
possibly damaging |
Het |
| Tas2r110 |
T |
C |
6: 132,845,061 (GRCm39) |
F31L |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,666,143 (GRCm39) |
C222S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,547,688 (GRCm39) |
S32161P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,775,451 (GRCm39) |
S1864P |
probably damaging |
Het |
| Vmn1r228 |
A |
G |
17: 20,997,104 (GRCm39) |
I138T |
probably damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,151,243 (GRCm39) |
T124S |
probably benign |
Het |
|
| Other mutations in Ftdc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02701:Ftdc1
|
APN |
16 |
58,436,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02839:Ftdc1
|
APN |
16 |
58,436,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0946:Ftdc1
|
UTSW |
16 |
58,435,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1323:Ftdc1
|
UTSW |
16 |
58,437,278 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1323:Ftdc1
|
UTSW |
16 |
58,437,278 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1548:Ftdc1
|
UTSW |
16 |
58,436,202 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2382:Ftdc1
|
UTSW |
16 |
58,436,239 (GRCm39) |
splice site |
probably null |
|
|
R2871:Ftdc1
|
UTSW |
16 |
58,434,342 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2871:Ftdc1
|
UTSW |
16 |
58,434,342 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2873:Ftdc1
|
UTSW |
16 |
58,434,342 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2874:Ftdc1
|
UTSW |
16 |
58,434,342 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4690:Ftdc1
|
UTSW |
16 |
58,434,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5097:Ftdc1
|
UTSW |
16 |
58,434,227 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5822:Ftdc1
|
UTSW |
16 |
58,436,075 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6234:Ftdc1
|
UTSW |
16 |
58,435,034 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6382:Ftdc1
|
UTSW |
16 |
58,434,273 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7170:Ftdc1
|
UTSW |
16 |
58,436,091 (GRCm39) |
nonsense |
probably null |
|
|
R8119:Ftdc1
|
UTSW |
16 |
58,437,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9082:Ftdc1
|
UTSW |
16 |
58,437,294 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9360:Ftdc1
|
UTSW |
16 |
58,434,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9718:Ftdc1
|
UTSW |
16 |
58,434,974 (GRCm39) |
missense |
probably benign |
0.02 |
|
RF016:Ftdc1
|
UTSW |
16 |
58,437,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Ftdc1
|
UTSW |
16 |
58,434,322 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2016-08-02 |
Incidental Mutation