Incidental Mutation 'R1323:Ftdc1'
| ID |
172465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ftdc1
|
| Ensembl Gene |
ENSMUSG00000075002 |
| Gene Name |
ferritin domain containing 1 |
| Synonyms |
Gm813, LOC328695, LOC385656 |
| MMRRC Submission |
039389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R1323 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
58434049-58437341 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58437278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 10
(P10L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099663]
|
| AlphaFold |
Q3UWK9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099663
AA Change: P10L
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097255
Gene: ENSMUSG00000075002
AA Change: P10L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ferritin
|
14 |
152 |
7.4e-16 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,240,937 (GRCm39) |
F933L |
possibly damaging |
Het |
| Abcc8 |
T |
G |
7: 45,766,786 (GRCm39) |
Q998P |
probably benign |
Het |
| Akr1e1 |
C |
T |
13: 4,657,547 (GRCm39) |
G17E |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,805,609 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,125,443 (GRCm39) |
I1524V |
probably damaging |
Het |
| Elovl1 |
T |
C |
4: 118,288,851 (GRCm39) |
L103P |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,259,864 (GRCm39) |
|
probably benign |
Het |
| Fam171a2 |
T |
G |
11: 102,334,951 (GRCm39) |
D62A |
probably damaging |
Het |
| Firrm |
C |
A |
1: 163,783,030 (GRCm39) |
|
probably benign |
Het |
| Frzb |
G |
A |
2: 80,243,720 (GRCm39) |
P320S |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,816,096 (GRCm39) |
G3943V |
probably damaging |
Het |
| Grm8 |
A |
G |
6: 28,125,973 (GRCm39) |
L51P |
probably damaging |
Het |
| H2af-ps2 |
T |
G |
13: 51,357,100 (GRCm39) |
|
noncoding transcript |
Het |
| Hnf4g |
T |
C |
3: 3,699,281 (GRCm39) |
S4P |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,059,527 (GRCm39) |
|
probably null |
Het |
| Mtnr1b |
A |
G |
9: 15,774,432 (GRCm39) |
F209S |
probably damaging |
Het |
| Nckipsd |
G |
A |
9: 108,689,778 (GRCm39) |
R313Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Paqr5 |
C |
T |
9: 61,868,810 (GRCm39) |
|
probably null |
Het |
| S100a14 |
T |
C |
3: 90,435,043 (GRCm39) |
V18A |
probably damaging |
Het |
| Sycp2 |
A |
T |
2: 177,989,414 (GRCm39) |
S1441R |
possibly damaging |
Het |
| Vmn2r101 |
G |
A |
17: 19,832,313 (GRCm39) |
D770N |
probably damaging |
Het |
| Zfp600 |
A |
G |
4: 146,133,261 (GRCm39) |
Y643C |
probably damaging |
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 |
|
IGL03275:Ftdc1
|
APN |
16 |
58,436,119 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCTCGCCATTGAACTACCTTC -3'
(R):5'- TCTGTCTGCTCACAAGGCCAAC -3'
Sequencing Primer
(F):5'- ATGTGAAGATGTGAATGTTAGATACC -3'
(R):5'- GTATATCAAGCAGGCTATGCCATC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation