Incidental Mutation 'R0030:Faap24'
| ID |
15331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Faap24
|
| Ensembl Gene |
ENSMUSG00000030493 |
| Gene Name |
Fanconi anemia core complex associated protein 24 |
| Synonyms |
C230052I12Rik |
| MMRRC Submission |
038324-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.203)
|
| Stock # |
R0030 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
35091577-35096192 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35092285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 211
(F211I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032704]
[ENSMUST00000032705]
[ENSMUST00000079414]
[ENSMUST00000085556]
[ENSMUST00000154597]
[ENSMUST00000206854]
[ENSMUST00000141704]
|
| AlphaFold |
Q8BHL6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032704
AA Change: F211I
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032704
Gene: ENSMUSG00000030493
AA Change: F211I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HHH_2
|
162 |
219 |
1.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032705
|
| SMART Domains |
Protein: ENSMUSP00000032705
Gene: ENSMUSG00000030494
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
38 |
101 |
2.42e-12 |
SMART |
|
BRO1
|
111 |
513 |
1.27e-167 |
SMART |
|
PDZ
|
524 |
594 |
1.73e-9 |
SMART |
|
low complexity region
|
623 |
637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079414
|
| SMART Domains |
Protein: ENSMUSP00000078383
Gene: ENSMUSG00000023072
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
190 |
N/A |
INTRINSIC |
|
coiled coil region
|
252 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
372 |
598 |
N/A |
INTRINSIC |
|
coiled coil region
|
670 |
732 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085556
|
| SMART Domains |
Protein: ENSMUSP00000082692
Gene: ENSMUSG00000030494
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
38 |
101 |
2.42e-12 |
SMART |
|
BRO1
|
111 |
513 |
1.27e-167 |
SMART |
|
PDZ
|
524 |
594 |
1.73e-9 |
SMART |
|
low complexity region
|
623 |
637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125041
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141001
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154597
AA Change: F211I
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115766
Gene: ENSMUSG00000030493
AA Change: F211I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HHH_2
|
162 |
219 |
2.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206854
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141704
|
| SMART Domains |
Protein: ENSMUSP00000121393
Gene: ENSMUSG00000023072
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
190 |
N/A |
INTRINSIC |
|
coiled coil region
|
252 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
372 |
598 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2165 |
| Coding Region Coverage |
- 1x: 78.5%
- 3x: 68.6%
- 10x: 42.5%
- 20x: 22.6%
|
| Validation Efficiency |
97% (72/74) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp2 |
A |
C |
6: 140,583,473 (GRCm39) |
S316R |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,822,456 (GRCm39) |
S1250P |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,022,727 (GRCm39) |
|
probably null |
Het |
| Cass4 |
G |
T |
2: 172,269,762 (GRCm39) |
E617* |
probably null |
Het |
| Cct4 |
T |
C |
11: 22,951,357 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
C |
T |
1: 110,065,798 (GRCm39) |
Q691* |
probably null |
Het |
| Crip1 |
G |
A |
12: 113,116,996 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,451,663 (GRCm39) |
D4367V |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,789,512 (GRCm39) |
V1514A |
possibly damaging |
Het |
| Eps15l1 |
A |
G |
8: 73,126,894 (GRCm39) |
S646P |
probably benign |
Het |
| Flrt3 |
A |
T |
2: 140,502,237 (GRCm39) |
Y464N |
probably damaging |
Het |
| Foxi2 |
A |
G |
7: 135,013,345 (GRCm39) |
T192A |
probably damaging |
Het |
| Gm7298 |
T |
A |
6: 121,751,009 (GRCm39) |
F695L |
probably benign |
Het |
| Ifnk |
T |
G |
4: 35,152,489 (GRCm39) |
V139G |
probably benign |
Het |
| Kif18a |
A |
T |
2: 109,163,663 (GRCm39) |
I671L |
probably benign |
Het |
| Lcn10 |
T |
C |
2: 25,575,093 (GRCm39) |
F154L |
probably damaging |
Het |
| Med12l |
T |
G |
3: 59,156,076 (GRCm39) |
L1198R |
probably damaging |
Het |
| Mmp23 |
G |
A |
4: 155,735,768 (GRCm39) |
R268* |
probably null |
Het |
| Mrps30 |
T |
C |
13: 118,519,531 (GRCm39) |
D298G |
possibly damaging |
Het |
| Myh7 |
T |
A |
14: 55,229,427 (GRCm39) |
T124S |
probably benign |
Het |
| Odf4 |
T |
A |
11: 68,817,767 (GRCm39) |
E9D |
probably benign |
Het |
| Ptchd4 |
T |
A |
17: 42,627,999 (GRCm39) |
C153* |
probably null |
Het |
| Scp2 |
T |
A |
4: 107,964,887 (GRCm39) |
|
probably null |
Het |
| Slc16a10 |
A |
G |
10: 39,952,819 (GRCm39) |
V225A |
probably benign |
Het |
| Slc66a1 |
A |
G |
4: 139,033,764 (GRCm39) |
S52P |
probably damaging |
Het |
| Tbk1 |
A |
G |
10: 121,397,529 (GRCm39) |
V381A |
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,937,482 (GRCm39) |
K1189E |
possibly damaging |
Het |
| Ttc39a |
C |
A |
4: 109,280,170 (GRCm39) |
H151N |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,554,854 (GRCm39) |
T3544M |
possibly damaging |
Het |
| Vnn1 |
A |
G |
10: 23,776,744 (GRCm39) |
H365R |
probably benign |
Het |
|
| Other mutations in Faap24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02265:Faap24
|
APN |
7 |
35,095,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02951:Faap24
|
APN |
7 |
35,092,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03351:Faap24
|
APN |
7 |
35,094,734 (GRCm39) |
nonsense |
probably null |
|
|
R0606:Faap24
|
UTSW |
7 |
35,094,388 (GRCm39) |
unclassified |
probably benign |
|
|
R1378:Faap24
|
UTSW |
7 |
35,092,326 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3749:Faap24
|
UTSW |
7 |
35,092,437 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4661:Faap24
|
UTSW |
7 |
35,094,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6279:Faap24
|
UTSW |
7 |
35,095,709 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7025:Faap24
|
UTSW |
7 |
35,092,296 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7074:Faap24
|
UTSW |
7 |
35,094,527 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7171:Faap24
|
UTSW |
7 |
35,092,279 (GRCm39) |
nonsense |
probably null |
|
|
R7249:Faap24
|
UTSW |
7 |
35,094,485 (GRCm39) |
missense |
probably benign |
|
|
R7566:Faap24
|
UTSW |
7 |
35,092,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9641:Faap24
|
UTSW |
7 |
35,094,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-17 |
Incidental Mutation