Incidental Mutation 'R2893:Faap100'
| ID |
260678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Faap100
|
| Ensembl Gene |
ENSMUSG00000025384 |
| Gene Name |
Fanconi anemia core complex associated protein 100 |
| Synonyms |
2310003H01Rik |
| MMRRC Submission |
040481-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.378)
|
| Stock # |
R2893 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120260388-120269572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120265451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 475
(D475G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026448]
|
| AlphaFold |
A2ACJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026448
AA Change: D475G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384
AA Change: D475G
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Abl1 |
T |
G |
2: 31,687,624 (GRCm39) |
S521R |
probably benign |
Het |
| Acox3 |
A |
G |
5: 35,757,192 (GRCm39) |
I344V |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
| Atoh8 |
A |
T |
6: 72,211,856 (GRCm39) |
F98Y |
probably benign |
Het |
| Caskin2 |
C |
T |
11: 115,692,103 (GRCm39) |
G894E |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,208,110 (GRCm39) |
K779E |
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,432,786 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,362,950 (GRCm39) |
D1687G |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fhip2a |
C |
T |
19: 57,372,601 (GRCm39) |
P617L |
probably benign |
Het |
| Gm13090 |
T |
A |
4: 151,175,157 (GRCm39) |
L78* |
probably null |
Het |
| Ikbke |
G |
A |
1: 131,197,961 (GRCm39) |
P382S |
probably damaging |
Het |
| Il4i1 |
A |
G |
7: 44,487,414 (GRCm39) |
I130V |
probably damaging |
Het |
| Islr2 |
A |
T |
9: 58,105,149 (GRCm39) |
S704T |
probably damaging |
Het |
| Itga10 |
A |
G |
3: 96,562,416 (GRCm39) |
N733D |
probably benign |
Het |
| Itih2 |
C |
T |
2: 10,107,008 (GRCm39) |
G662D |
possibly damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,493 (GRCm39) |
Q269R |
probably damaging |
Het |
| Kcnj3 |
A |
T |
2: 55,337,027 (GRCm39) |
I298F |
probably damaging |
Het |
| Kdr |
A |
G |
5: 76,107,496 (GRCm39) |
F1016L |
probably damaging |
Het |
| Miga2 |
A |
T |
2: 30,268,306 (GRCm39) |
|
probably null |
Het |
| Or51ai2 |
A |
T |
7: 103,587,389 (GRCm39) |
R267S |
probably damaging |
Het |
| Per2 |
C |
A |
1: 91,373,325 (GRCm39) |
Q154H |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,149,848 (GRCm39) |
|
noncoding transcript |
Het |
| Rad18 |
G |
A |
6: 112,652,734 (GRCm39) |
Q288* |
probably null |
Het |
| Rapsn |
A |
T |
2: 90,867,169 (GRCm39) |
D157V |
probably damaging |
Het |
| Slc2a8 |
A |
T |
2: 32,864,966 (GRCm39) |
W394R |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,138,237 (GRCm39) |
S1136P |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,544,197 (GRCm39) |
V2108D |
probably damaging |
Het |
| Trappc10 |
C |
T |
10: 78,029,235 (GRCm39) |
V1101M |
probably benign |
Het |
| Ttbk2 |
C |
A |
2: 120,576,091 (GRCm39) |
|
probably null |
Het |
| Usp8 |
A |
T |
2: 126,600,075 (GRCm39) |
Q998L |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,699 (GRCm39) |
F17S |
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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- GAATACACAAGGTCCAGCCCTG -3'
(R):5'- GGCAGAGAAAGATGTCCTCC -3'
Sequencing Primer
(F):5'- TCCAGGCTGAAGCTGCTG -3'
(R):5'- CAGAGAAAGATGTCCTCCTTCGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation