Incidental Mutation 'IGL00514:Aplf'
| ID |
6345 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aplf
|
| Ensembl Gene |
ENSMUSG00000030051 |
| Gene Name |
aprataxin and PNKP like factor |
| Synonyms |
2010301N04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
IGL00514
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
87605406-87649175 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 87645390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032130]
[ENSMUST00000065997]
[ENSMUST00000203209]
|
| AlphaFold |
Q9D842 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032130
|
| SMART Domains |
Protein: ENSMUSP00000032130
Gene: ENSMUSG00000030051
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lgpa_
|
6 |
105 |
2e-11 |
SMART |
|
low complexity region
|
264 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
349 |
N/A |
INTRINSIC |
|
Pfam:zf-CCHH
|
372 |
396 |
1.7e-16 |
PFAM |
|
Pfam:zf-CCHH
|
414 |
437 |
6.8e-15 |
PFAM |
|
low complexity region
|
456 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
486 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065997
|
| SMART Domains |
Protein: ENSMUSP00000066232
Gene: ENSMUSG00000030051
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lgpa_
|
14 |
84 |
7e-6 |
SMART |
|
low complexity region
|
243 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
328 |
N/A |
INTRINSIC |
|
Pfam:zf-CCHH
|
351 |
376 |
1.7e-15 |
PFAM |
|
Pfam:zf-CCHH
|
393 |
417 |
1.9e-15 |
PFAM |
|
low complexity region
|
435 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000095740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160577
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204112
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased repair of gamma irradiation-induced DNA damage and increased microhomology at class switch recombination junctions in B cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,432,141 (GRCm39) |
E75G |
unknown |
Het |
| Ank3 |
T |
C |
10: 69,818,035 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,792,821 (GRCm39) |
F436I |
probably benign |
Het |
| Blmh |
A |
G |
11: 76,857,839 (GRCm39) |
D327G |
probably damaging |
Het |
| Bmt2 |
A |
T |
6: 13,628,752 (GRCm39) |
H310Q |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,576,013 (GRCm39) |
K110E |
unknown |
Het |
| Cyp2c68 |
T |
C |
19: 39,700,939 (GRCm39) |
D293G |
probably damaging |
Het |
| Ears2 |
T |
A |
7: 121,638,985 (GRCm39) |
K480* |
probably null |
Het |
| Efhc1 |
C |
T |
1: 21,049,705 (GRCm39) |
Q522* |
probably null |
Het |
| Ehd4 |
G |
A |
2: 119,921,694 (GRCm39) |
P521S |
probably damaging |
Het |
| Endov |
G |
T |
11: 119,382,291 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
T |
G |
7: 129,769,441 (GRCm39) |
T648P |
probably benign |
Het |
| Hsf5 |
A |
G |
11: 87,513,922 (GRCm39) |
Y329C |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,929,590 (GRCm39) |
S1308T |
probably benign |
Het |
| Mill1 |
A |
T |
7: 17,998,566 (GRCm39) |
T259S |
possibly damaging |
Het |
| Ms4a4c |
C |
T |
19: 11,396,400 (GRCm39) |
A111V |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,110,610 (GRCm39) |
R1507M |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,256,384 (GRCm39) |
D210N |
probably benign |
Het |
| Neo1 |
G |
T |
9: 58,829,202 (GRCm39) |
|
probably benign |
Het |
| Nipsnap2 |
A |
G |
5: 129,831,915 (GRCm39) |
D236G |
probably damaging |
Het |
| Plekhh2 |
G |
T |
17: 84,903,734 (GRCm39) |
|
probably null |
Het |
| Prox2 |
A |
T |
12: 85,141,552 (GRCm39) |
M217K |
probably benign |
Het |
| Rgl2 |
G |
A |
17: 34,152,110 (GRCm39) |
G299E |
probably benign |
Het |
| Rragb |
T |
G |
X: 151,954,294 (GRCm39) |
C370W |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,393,945 (GRCm39) |
N209K |
probably damaging |
Het |
| Sec61g |
A |
T |
11: 16,451,817 (GRCm39) |
|
probably benign |
Het |
| Slc38a7 |
A |
G |
8: 96,567,105 (GRCm39) |
|
probably benign |
Het |
| Smcr8 |
A |
T |
11: 60,669,193 (GRCm39) |
K114* |
probably null |
Het |
| Stag3 |
T |
C |
5: 138,298,397 (GRCm39) |
L730P |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,190,280 (GRCm39) |
L183P |
probably damaging |
Het |
| Tbk1 |
A |
T |
10: 121,388,155 (GRCm39) |
C637S |
probably benign |
Het |
| Tmem30c |
A |
T |
16: 57,090,437 (GRCm39) |
Y257N |
probably damaging |
Het |
| Trpm3 |
C |
T |
19: 22,965,023 (GRCm39) |
T1506M |
probably benign |
Het |
| Yes1 |
A |
C |
5: 32,812,473 (GRCm39) |
K248Q |
probably benign |
Het |
| Zfp638 |
A |
T |
6: 83,933,680 (GRCm39) |
K811N |
probably damaging |
Het |
|
| Other mutations in Aplf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Aplf
|
APN |
6 |
87,618,882 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02267:Aplf
|
APN |
6 |
87,635,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0294:Aplf
|
UTSW |
6 |
87,623,227 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0352:Aplf
|
UTSW |
6 |
87,630,866 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0445:Aplf
|
UTSW |
6 |
87,640,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0959:Aplf
|
UTSW |
6 |
87,623,065 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1127:Aplf
|
UTSW |
6 |
87,623,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1583:Aplf
|
UTSW |
6 |
87,623,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2878:Aplf
|
UTSW |
6 |
87,645,409 (GRCm39) |
nonsense |
probably null |
|
|
R3617:Aplf
|
UTSW |
6 |
87,648,865 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4708:Aplf
|
UTSW |
6 |
87,640,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:Aplf
|
UTSW |
6 |
87,623,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4919:Aplf
|
UTSW |
6 |
87,607,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4941:Aplf
|
UTSW |
6 |
87,623,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4941:Aplf
|
UTSW |
6 |
87,645,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5208:Aplf
|
UTSW |
6 |
87,619,008 (GRCm39) |
splice site |
probably null |
|
|
R5575:Aplf
|
UTSW |
6 |
87,623,129 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6271:Aplf
|
UTSW |
6 |
87,623,230 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6381:Aplf
|
UTSW |
6 |
87,635,959 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6772:Aplf
|
UTSW |
6 |
87,640,781 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6906:Aplf
|
UTSW |
6 |
87,607,068 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6975:Aplf
|
UTSW |
6 |
87,623,068 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7015:Aplf
|
UTSW |
6 |
87,618,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7038:Aplf
|
UTSW |
6 |
87,630,805 (GRCm39) |
nonsense |
probably null |
|
|
R7296:Aplf
|
UTSW |
6 |
87,623,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7778:Aplf
|
UTSW |
6 |
87,635,184 (GRCm39) |
splice site |
probably null |
|
|
R8259:Aplf
|
UTSW |
6 |
87,606,987 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8260:Aplf
|
UTSW |
6 |
87,606,987 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9047:Aplf
|
UTSW |
6 |
87,640,779 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9570:Aplf
|
UTSW |
6 |
87,640,781 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2012-04-20 |
Incidental Mutation