Incidental Mutation 'R6975:Aplf'
ID |
542412 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aplf
|
Ensembl Gene |
ENSMUSG00000030051 |
Gene Name |
aprataxin and PNKP like factor |
Synonyms |
2010301N04Rik |
MMRRC Submission |
045085-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R6975 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
87605406-87649175 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87623068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 358
(D358G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032130
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032130]
[ENSMUST00000065997]
[ENSMUST00000203209]
|
AlphaFold |
Q9D842 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032130
AA Change: D358G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000032130 Gene: ENSMUSG00000030051 AA Change: D358G
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 damaging
Transcript: ENSMUST00000065997
AA Change: D337G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000066232 Gene: ENSMUSG00000030051 AA Change: D337G
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 |
probably benign
Transcript: ENSMUST00000203209
|
Meta Mutation Damage Score |
0.1441 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
Validation Efficiency |
100% (46/46) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
A |
9: 124,056,687 (GRCm39) |
H100L |
probably benign |
Het |
Apaf1 |
A |
T |
10: 90,856,596 (GRCm39) |
H870Q |
probably damaging |
Het |
Atp10a |
A |
T |
7: 58,423,733 (GRCm39) |
S233C |
probably damaging |
Het |
Ccdc158 |
A |
T |
5: 92,814,579 (GRCm39) |
Y82* |
probably null |
Het |
Clba1 |
C |
T |
12: 112,773,217 (GRCm39) |
P70L |
possibly damaging |
Het |
Cubn |
T |
C |
2: 13,491,600 (GRCm39) |
D149G |
probably damaging |
Het |
Cyp4f14 |
T |
C |
17: 33,133,608 (GRCm39) |
T83A |
probably benign |
Het |
Endog |
A |
G |
2: 30,061,648 (GRCm39) |
|
probably benign |
Het |
Extl3 |
T |
C |
14: 65,304,246 (GRCm39) |
E721G |
probably benign |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Gcn1 |
A |
G |
5: 115,751,518 (GRCm39) |
H2033R |
probably damaging |
Het |
Gm12830 |
T |
C |
4: 114,702,246 (GRCm39) |
M136T |
|
Het |
Gm6871 |
T |
C |
7: 41,196,202 (GRCm39) |
|
silent |
Het |
Hoxc4 |
T |
C |
15: 102,944,098 (GRCm39) |
S159P |
probably damaging |
Het |
Ift70a2 |
T |
C |
2: 75,806,752 (GRCm39) |
R587G |
probably damaging |
Het |
Ift70a2 |
A |
T |
2: 75,808,004 (GRCm39) |
Y169* |
probably null |
Het |
Igf2bp2 |
T |
A |
16: 21,880,611 (GRCm39) |
Q494L |
probably null |
Het |
Igfn1 |
T |
A |
1: 135,896,183 (GRCm39) |
N1461I |
probably damaging |
Het |
Il23r |
C |
A |
6: 67,400,352 (GRCm39) |
K659N |
probably damaging |
Het |
Map3k11 |
A |
G |
19: 5,740,755 (GRCm39) |
S161G |
possibly damaging |
Het |
Naip6 |
T |
A |
13: 100,452,773 (GRCm39) |
Q96L |
probably damaging |
Het |
Nup133 |
T |
C |
8: 124,642,057 (GRCm39) |
E802G |
probably damaging |
Het |
Nutm1 |
G |
A |
2: 112,086,563 (GRCm39) |
S56F |
probably damaging |
Het |
Or10x4 |
T |
A |
1: 174,219,243 (GRCm39) |
S203T |
probably benign |
Het |
Or51a24 |
T |
C |
7: 103,734,002 (GRCm39) |
N95S |
probably benign |
Het |
Otop2 |
A |
T |
11: 115,220,152 (GRCm39) |
S331C |
possibly damaging |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,387,539 (GRCm39) |
R1818G |
possibly damaging |
Het |
Pms1 |
A |
T |
1: 53,228,590 (GRCm39) |
I886N |
probably damaging |
Het |
Pnpla6 |
A |
G |
8: 3,588,068 (GRCm39) |
Y1107C |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,611,062 (GRCm39) |
T362A |
probably damaging |
Het |
Rarb |
A |
G |
14: 16,574,942 (GRCm38) |
S25P |
possibly damaging |
Het |
Rnf121 |
A |
T |
7: 101,673,218 (GRCm39) |
|
probably null |
Het |
Sae1 |
T |
C |
7: 16,070,712 (GRCm39) |
Y266C |
probably damaging |
Het |
Scpep1 |
A |
T |
11: 88,838,031 (GRCm39) |
F85L |
probably damaging |
Het |
Shank1 |
T |
A |
7: 43,962,530 (GRCm39) |
|
probably null |
Het |
Slc40a1 |
T |
C |
1: 45,948,652 (GRCm39) |
K543E |
probably benign |
Het |
Slc9a9 |
A |
G |
9: 94,842,499 (GRCm39) |
Y350C |
probably damaging |
Het |
Sun2 |
G |
T |
15: 79,618,420 (GRCm39) |
Y246* |
probably null |
Het |
Tas1r2 |
T |
A |
4: 139,397,031 (GRCm39) |
I790N |
probably damaging |
Het |
Tmtc2 |
T |
C |
10: 105,158,863 (GRCm39) |
T577A |
probably benign |
Het |
Trim24 |
T |
G |
6: 37,896,427 (GRCm39) |
|
probably null |
Het |
Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
Zbtb22 |
A |
C |
17: 34,136,938 (GRCm39) |
D361A |
probably damaging |
Het |
Zfp276 |
T |
A |
8: 123,983,570 (GRCm39) |
C324* |
probably null |
Het |
Zfp536 |
A |
G |
7: 37,267,952 (GRCm39) |
L488P |
probably damaging |
Het |
|
Other mutations in Aplf |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00514:Aplf
|
APN |
6 |
87,645,390 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCCCCATTGCATCCTAAAAG -3'
(R):5'- ATAGAGGAACTTGGTGAGGTCTC -3'
Sequencing Primer
(F):5'- CTAAAAGCTTCTGGCCGGACTTAG -3'
(R):5'- TGGTGAGGTCTCTAAACATAAAGCC -3'
|
Posted On |
2018-11-28 |