Incidental Mutation 'R3969:Faap100'
| ID |
366522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Faap100
|
| Ensembl Gene |
ENSMUSG00000025384 |
| Gene Name |
Fanconi anemia core complex associated protein 100 |
| Synonyms |
2310003H01Rik |
| MMRRC Submission |
040937-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.378)
|
| Stock # |
R3969 (G1)
|
| Quality Score |
33 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120260388-120269572 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 120269531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026448]
[ENSMUST00000044271]
[ENSMUST00000103017]
|
| AlphaFold |
A2ACJ2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026448
AA Change: M1K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384
AA Change: M1K
| 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: ENSMUST00000152346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153015
|
| Meta Mutation Damage Score |
0.9720 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (48/48) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
A |
G |
10: 20,835,846 (GRCm39) |
K60E |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
| Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
| Camk2d |
G |
T |
3: 126,590,608 (GRCm39) |
C273F |
possibly damaging |
Het |
| Camk4 |
T |
A |
18: 33,312,634 (GRCm39) |
I258N |
possibly damaging |
Het |
| Chia1 |
T |
G |
3: 106,028,951 (GRCm39) |
|
probably null |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,822,811 (GRCm39) |
I175T |
possibly damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Flna |
A |
T |
X: 73,279,273 (GRCm39) |
V1253E |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,269,766 (GRCm39) |
S396R |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,798,172 (GRCm39) |
C774S |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,300,133 (GRCm39) |
Y194C |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,369,739 (GRCm39) |
Q481L |
probably damaging |
Het |
| Irf5 |
A |
T |
6: 29,536,781 (GRCm39) |
Q497H |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Lins1 |
C |
T |
7: 66,357,946 (GRCm39) |
T27I |
probably benign |
Het |
| Ncstn |
A |
C |
1: 171,897,576 (GRCm39) |
V439G |
probably damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
T |
13: 49,813,492 (GRCm39) |
K162* |
probably null |
Het |
| Or7g21 |
A |
G |
9: 19,032,956 (GRCm39) |
E232G |
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
| Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
| Pecr |
G |
A |
1: 72,315,468 (GRCm39) |
T94I |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Pole3 |
G |
T |
4: 62,443,198 (GRCm39) |
N12K |
possibly damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,990,263 (GRCm39) |
S71G |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,088,738 (GRCm39) |
V496A |
probably benign |
Het |
| Slc26a1 |
A |
G |
5: 108,821,818 (GRCm39) |
S24P |
probably benign |
Het |
| Tspoap1 |
A |
T |
11: 87,653,272 (GRCm39) |
N113Y |
probably damaging |
Het |
| Usp17lc |
A |
T |
7: 103,067,626 (GRCm39) |
H307L |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,652,801 (GRCm39) |
W498R |
probably damaging |
Het |
| Vmn2r94 |
C |
A |
17: 18,478,647 (GRCm39) |
Q33H |
possibly damaging |
Het |
| Wwc2 |
T |
C |
8: 48,309,358 (GRCm39) |
D808G |
unknown |
Het |
| Ybx2 |
G |
A |
11: 69,831,242 (GRCm39) |
R84Q |
probably damaging |
Het |
| Zfp462 |
C |
T |
4: 55,012,402 (GRCm39) |
S308F |
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 |
|
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'- ATACCTGGTCGGGAAACTGG -3'
(R):5'- TGCTAAGCCACGGTGTTTGG -3'
Sequencing Primer
(F):5'- CTGGTCGGGAAACTGGTACAC -3'
(R):5'- CACGGTGTTTGGGGGCG -3'
|
| Posted On |
2015-12-28 |
Incidental Mutation