Incidental Mutation 'IGL02954:Faap100'
ID |
365041 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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: 0.378)
|
Stock # |
IGL02954
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
120260388-120269572 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120262957 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 800
(H800Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026448
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026445]
[ENSMUST00000026448]
|
AlphaFold |
A2ACJ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026445
|
SMART Domains |
Protein: ENSMUSP00000026445 Gene: ENSMUSG00000025380
Domain | Start | End | E-Value | Type |
Pfam:Fascin
|
20 |
133 |
4.9e-34 |
PFAM |
Pfam:Fascin
|
141 |
254 |
1.2e-26 |
PFAM |
Pfam:Fascin
|
266 |
376 |
8.9e-35 |
PFAM |
Pfam:Fascin
|
389 |
492 |
4.1e-22 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026448
AA Change: H800Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000026448 Gene: ENSMUSG00000025384 AA Change: H800Q
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: ENSMUST00000130476
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134771
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135635
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154826
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148520
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153015
|
Coding Region Coverage |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
T |
5: 8,782,341 (GRCm39) |
R908L |
probably benign |
Het |
Abcc9 |
T |
C |
6: 142,592,007 (GRCm39) |
N774S |
probably damaging |
Het |
Alpk2 |
C |
T |
18: 65,439,207 (GRCm39) |
V729I |
probably benign |
Het |
Atf3 |
T |
C |
1: 190,903,852 (GRCm39) |
N125D |
probably damaging |
Het |
Bcat1 |
C |
T |
6: 144,964,945 (GRCm39) |
G215D |
probably damaging |
Het |
Bptf |
G |
T |
11: 106,945,575 (GRCm39) |
Q2555K |
possibly damaging |
Het |
Cthrc1 |
A |
G |
15: 38,940,389 (GRCm39) |
|
probably benign |
Het |
Cyp2c38 |
A |
G |
19: 39,379,520 (GRCm39) |
M443T |
probably damaging |
Het |
D6Wsu163e |
C |
T |
6: 126,951,441 (GRCm39) |
|
probably benign |
Het |
Dgkg |
T |
A |
16: 22,441,003 (GRCm39) |
E3D |
probably benign |
Het |
Dnah8 |
G |
T |
17: 30,923,809 (GRCm39) |
R1259L |
probably benign |
Het |
Dnah9 |
A |
G |
11: 66,009,793 (GRCm39) |
L698P |
probably damaging |
Het |
Ebag9 |
A |
C |
15: 44,493,601 (GRCm39) |
H141P |
probably benign |
Het |
Emilin2 |
T |
C |
17: 71,563,526 (GRCm39) |
R840G |
probably benign |
Het |
Fh1 |
A |
T |
1: 175,437,301 (GRCm39) |
I266N |
probably damaging |
Het |
Fkbp15 |
A |
G |
4: 62,239,302 (GRCm39) |
|
probably benign |
Het |
Gm17334 |
A |
G |
11: 53,663,654 (GRCm39) |
|
probably benign |
Het |
Gm5773 |
G |
T |
3: 93,680,358 (GRCm39) |
W10L |
probably benign |
Het |
Gng13 |
T |
C |
17: 25,937,726 (GRCm39) |
Y18H |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,990,838 (GRCm39) |
S2113P |
probably damaging |
Het |
Ift81 |
A |
T |
5: 122,748,248 (GRCm39) |
|
probably benign |
Het |
Irak3 |
A |
C |
10: 120,012,147 (GRCm39) |
L206V |
probably damaging |
Het |
Kcng4 |
C |
T |
8: 120,359,792 (GRCm39) |
A195T |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
Nars2 |
T |
G |
7: 96,689,100 (GRCm39) |
|
probably null |
Het |
Nol8 |
T |
C |
13: 49,814,648 (GRCm39) |
V234A |
probably benign |
Het |
Or12j4 |
A |
T |
7: 140,046,353 (GRCm39) |
K80* |
probably null |
Het |
Or1o4 |
T |
A |
17: 37,591,195 (GRCm39) |
N39Y |
probably damaging |
Het |
Patz1 |
A |
G |
11: 3,241,761 (GRCm39) |
Y383C |
probably damaging |
Het |
Pdcd5 |
T |
C |
7: 35,343,089 (GRCm39) |
Y152C |
probably damaging |
Het |
Phkg1 |
A |
G |
5: 129,894,910 (GRCm39) |
W214R |
probably damaging |
Het |
Plxna1 |
A |
G |
6: 89,301,649 (GRCm39) |
L1459P |
probably damaging |
Het |
Pspc1 |
G |
A |
14: 57,009,217 (GRCm39) |
P206S |
probably benign |
Het |
St7 |
A |
T |
6: 17,848,030 (GRCm39) |
N198I |
probably damaging |
Het |
Supt3 |
A |
G |
17: 45,349,015 (GRCm39) |
D249G |
probably damaging |
Het |
Taf1c |
T |
C |
8: 120,327,225 (GRCm39) |
Y418C |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,938,153 (GRCm39) |
V965A |
possibly damaging |
Het |
Ugt2b35 |
A |
G |
5: 87,159,180 (GRCm39) |
N458S |
probably benign |
Het |
Vmn1r8 |
A |
G |
6: 57,013,315 (GRCm39) |
Y122C |
probably benign |
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 |
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 |
R6350:Faap100
|
UTSW |
11 |
120,265,406 (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 |
|
|
Posted On |
2015-12-18 |