Incidental Mutation 'R1218:Faap100'
| ID |
262445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Faap100
|
| Ensembl Gene |
ENSMUSG00000025384 |
| Gene Name |
Fanconi anemia core complex associated protein 100 |
| Synonyms |
2310003H01Rik |
| MMRRC Submission |
039287-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.378)
|
| Stock # |
R1218 (G1)
|
| Quality Score |
90 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120260388-120269572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120269166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 91
(D91G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026448]
[ENSMUST00000044271]
[ENSMUST00000103017]
|
| AlphaFold |
A2ACJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026448
AA Change: D91G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384
AA Change: D91G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FANCAA
|
447 |
879 |
1.4e-196 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044271
|
| SMART Domains |
Protein: ENSMUSP00000035851
Gene: ENSMUSG00000039703
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UN_NPL4
|
1 |
80 |
1.1e-36 |
PFAM |
|
Pfam:zf-NPL4
|
105 |
245 |
2.1e-64 |
PFAM |
|
Pfam:NPL4
|
248 |
557 |
4.8e-129 |
PFAM |
|
ZnF_RBZ
|
582 |
606 |
8.4e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103017
|
| SMART Domains |
Protein: ENSMUSP00000099306
Gene: ENSMUSG00000039703
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UN_NPL4
|
1 |
80 |
7e-38 |
PFAM |
|
Pfam:zf-NPL4
|
104 |
246 |
1.1e-61 |
PFAM |
|
Pfam:NPL4
|
248 |
455 |
1.8e-87 |
PFAM |
|
Pfam:NPL4
|
451 |
525 |
3e-15 |
PFAM |
|
ZnF_RBZ
|
550 |
574 |
8.4e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134771
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137041
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154826
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 97.9%
- 10x: 93.3%
- 20x: 80.5%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
T |
15: 81,948,353 (GRCm39) |
T750I |
probably benign |
Het |
| 5330417H12Rik |
T |
C |
7: 107,224,024 (GRCm39) |
|
probably benign |
Het |
| 9230109A22Rik |
C |
T |
15: 25,139,024 (GRCm39) |
|
noncoding transcript |
Het |
| Ahnak |
A |
G |
19: 8,992,983 (GRCm39) |
K4756E |
probably damaging |
Het |
| Ano5 |
A |
T |
7: 51,220,169 (GRCm39) |
|
probably null |
Het |
| Bmp6 |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
13: 38,530,226 (GRCm39) |
|
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cbfa2t2 |
A |
T |
2: 154,365,839 (GRCm39) |
M350L |
probably benign |
Het |
| Ceacam20 |
A |
T |
7: 19,710,022 (GRCm39) |
M349L |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,118,495 (GRCm39) |
V768A |
probably benign |
Het |
| Chd1 |
G |
T |
17: 15,945,574 (GRCm39) |
G33C |
probably damaging |
Het |
| Dhx40 |
A |
G |
11: 86,690,310 (GRCm39) |
V237A |
probably benign |
Het |
| Dlst |
G |
T |
12: 85,170,638 (GRCm39) |
D256Y |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,026,678 (GRCm39) |
S1929T |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,654,858 (GRCm39) |
I551N |
probably damaging |
Het |
| Fbn1 |
T |
G |
2: 125,254,669 (GRCm39) |
Q198P |
possibly damaging |
Het |
| Flrt2 |
A |
G |
12: 95,745,727 (GRCm39) |
I22V |
probably benign |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| H2bc3 |
A |
G |
13: 23,931,142 (GRCm39) |
Y122C |
probably benign |
Het |
| Inava |
A |
T |
1: 136,142,140 (GRCm39) |
V653E |
probably damaging |
Het |
| Kcnn1 |
T |
C |
8: 71,305,332 (GRCm39) |
I293V |
probably benign |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Mcpt9 |
G |
T |
14: 56,266,125 (GRCm39) |
Y34* |
probably null |
Het |
| Mepe |
A |
T |
5: 104,474,939 (GRCm39) |
M7L |
probably benign |
Het |
| Mprip |
A |
G |
11: 59,634,640 (GRCm39) |
Y383C |
probably damaging |
Het |
| Mtrex |
G |
A |
13: 113,054,156 (GRCm39) |
A159V |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,083,351 (GRCm39) |
D1438V |
probably damaging |
Het |
| Napb |
T |
C |
2: 148,542,345 (GRCm39) |
Y205C |
probably damaging |
Het |
| Odf2l |
A |
G |
3: 144,854,693 (GRCm39) |
D510G |
probably damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,351 (GRCm39) |
D162G |
probably damaging |
Het |
| Oscp1 |
T |
C |
4: 125,952,532 (GRCm39) |
V20A |
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,214 (GRCm39) |
L430P |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,849,808 (GRCm39) |
D354G |
possibly damaging |
Het |
| Rims1 |
C |
A |
1: 22,522,256 (GRCm39) |
V481F |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,785,534 (GRCm39) |
I1719T |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,480,021 (GRCm39) |
H400R |
probably benign |
Het |
| Snx33 |
A |
G |
9: 56,833,269 (GRCm39) |
Y267H |
probably damaging |
Het |
| Sstr1 |
T |
A |
12: 58,260,406 (GRCm39) |
M343K |
possibly damaging |
Het |
| Stx6 |
T |
C |
1: 155,077,737 (GRCm39) |
V248A |
probably benign |
Het |
| Tbx5 |
C |
T |
5: 119,976,785 (GRCm39) |
L58F |
probably damaging |
Het |
| Tmem241 |
A |
G |
18: 12,197,271 (GRCm39) |
Y186H |
probably damaging |
Het |
| Tnfaip8l3 |
T |
C |
9: 53,934,760 (GRCm39) |
K72E |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,753,219 (GRCm39) |
I1848N |
probably damaging |
Het |
| Xrcc6 |
G |
A |
15: 81,907,142 (GRCm39) |
V155I |
probably benign |
Het |
| Zfp458 |
T |
C |
13: 67,404,273 (GRCm39) |
E722G |
probably damaging |
Het |
| Zfyve1 |
G |
T |
12: 83,594,825 (GRCm39) |
H722Q |
possibly 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 |
|
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2015-02-04 |
Incidental Mutation