Incidental Mutation 'R6350:Faap100'
| ID |
514162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Faap100
|
| Ensembl Gene |
ENSMUSG00000025384 |
| Gene Name |
Fanconi anemia core complex associated protein 100 |
| Synonyms |
2310003H01Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.386)
|
| Stock # |
R6350 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120260388-120269572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120265406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 490
(V490E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026448]
|
| AlphaFold |
A2ACJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026448
AA Change: V490E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384
AA Change: V490E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FANCAA
|
447 |
879 |
1.4e-196 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134771
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154826
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,947,764 (GRCm39) |
K554E |
possibly damaging |
Het |
| Acsf2 |
T |
C |
11: 94,449,156 (GRCm39) |
M609V |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,367,256 (GRCm39) |
T30A |
probably benign |
Het |
| Adam32 |
T |
C |
8: 25,353,445 (GRCm39) |
K715E |
possibly damaging |
Het |
| Cdk5r1 |
T |
C |
11: 80,369,068 (GRCm39) |
L245P |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,147,579 (GRCm39) |
V926A |
probably damaging |
Het |
| Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,708,278 (GRCm39) |
H138Q |
probably damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,415 (GRCm39) |
L35P |
probably damaging |
Het |
| Il3ra |
A |
G |
14: 14,348,903 (GRCm38) |
D99G |
probably benign |
Het |
| Kcnmb1 |
A |
G |
11: 33,914,711 (GRCm39) |
K4R |
probably damaging |
Het |
| Larp1 |
T |
A |
11: 57,940,657 (GRCm39) |
D594E |
probably benign |
Het |
| Lnpep |
G |
T |
17: 17,783,071 (GRCm39) |
H577N |
probably benign |
Het |
| Mief1 |
T |
C |
15: 80,133,804 (GRCm39) |
I287T |
probably damaging |
Het |
| Mras |
T |
C |
9: 99,293,560 (GRCm39) |
S27G |
probably damaging |
Het |
| Myh7b |
T |
A |
2: 155,470,680 (GRCm39) |
C1043S |
probably benign |
Het |
| N4bp1 |
T |
C |
8: 87,588,596 (GRCm39) |
D114G |
probably damaging |
Het |
| Nsmce4a |
A |
T |
7: 130,140,829 (GRCm39) |
I219K |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,105,533 (GRCm39) |
I848F |
probably benign |
Het |
| Or2p2 |
T |
C |
13: 21,256,775 (GRCm39) |
E232G |
probably benign |
Het |
| Or4f62 |
T |
A |
2: 111,986,542 (GRCm39) |
I82N |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,293,855 (GRCm39) |
S36T |
probably benign |
Het |
| Pcdhb15 |
G |
A |
18: 37,608,414 (GRCm39) |
V549M |
probably damaging |
Het |
| Prl2c5 |
T |
C |
13: 13,357,631 (GRCm39) |
|
probably null |
Het |
| Ptbp3 |
A |
T |
4: 59,482,624 (GRCm39) |
D386E |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 130,382,512 (GRCm39) |
L451P |
probably damaging |
Het |
| Repin1 |
A |
G |
6: 48,574,562 (GRCm39) |
D497G |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,776,282 (GRCm39) |
F1085S |
probably damaging |
Het |
| Slc6a18 |
G |
A |
13: 73,826,044 (GRCm39) |
A2V |
possibly damaging |
Het |
| Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
probably damaging |
Het |
| Zmynd15 |
T |
C |
11: 70,355,257 (GRCm39) |
V388A |
probably damaging |
Het |
|
| Other mutations in Faap100 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Faap100
|
APN |
11 |
120,262,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02954:Faap100
|
APN |
11 |
120,262,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Faap100
|
UTSW |
11 |
120,261,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0034:Faap100
|
UTSW |
11 |
120,262,973 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0207:Faap100
|
UTSW |
11 |
120,265,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0432:Faap100
|
UTSW |
11 |
120,264,702 (GRCm39) |
splice site |
probably benign |
|
|
R0570:Faap100
|
UTSW |
11 |
120,265,114 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0748:Faap100
|
UTSW |
11 |
120,262,997 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0782:Faap100
|
UTSW |
11 |
120,267,530 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1218:Faap100
|
UTSW |
11 |
120,269,166 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1612:Faap100
|
UTSW |
11 |
120,267,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1720:Faap100
|
UTSW |
11 |
120,265,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1758:Faap100
|
UTSW |
11 |
120,268,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2881:Faap100
|
UTSW |
11 |
120,265,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2893:Faap100
|
UTSW |
11 |
120,265,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3969:Faap100
|
UTSW |
11 |
120,269,531 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4824:Faap100
|
UTSW |
11 |
120,266,412 (GRCm39) |
splice site |
probably null |
|
|
R4911:Faap100
|
UTSW |
11 |
120,262,939 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5152:Faap100
|
UTSW |
11 |
120,268,458 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5155:Faap100
|
UTSW |
11 |
120,268,458 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5327:Faap100
|
UTSW |
11 |
120,268,458 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5328:Faap100
|
UTSW |
11 |
120,268,458 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5386:Faap100
|
UTSW |
11 |
120,268,458 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5480:Faap100
|
UTSW |
11 |
120,267,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5541:Faap100
|
UTSW |
11 |
120,268,458 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5629:Faap100
|
UTSW |
11 |
120,267,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5911:Faap100
|
UTSW |
11 |
120,267,958 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6285:Faap100
|
UTSW |
11 |
120,267,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Faap100
|
UTSW |
11 |
120,269,590 (GRCm39) |
splice site |
probably null |
|
|
R7046:Faap100
|
UTSW |
11 |
120,268,200 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7539:Faap100
|
UTSW |
11 |
120,268,464 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7781:Faap100
|
UTSW |
11 |
120,265,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8345:Faap100
|
UTSW |
11 |
120,267,856 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8679:Faap100
|
UTSW |
11 |
120,263,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8715:Faap100
|
UTSW |
11 |
120,265,299 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8942:Faap100
|
UTSW |
11 |
120,267,856 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8956:Faap100
|
UTSW |
11 |
120,268,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9313:Faap100
|
UTSW |
11 |
120,267,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9590:Faap100
|
UTSW |
11 |
120,269,545 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGCACCTGAATACACAAGG -3'
(R):5'- GGCAGAGAAAGATGTCCTCC -3'
Sequencing Primer
(F):5'- TGAATACACAAGGTCCAGCCCTG -3'
(R):5'- CAGAGAAAGATGTCCTCCTTCGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation