Incidental Mutation 'R4919:Aplf'
| ID |
378471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aplf
|
| Ensembl Gene |
ENSMUSG00000030051 |
| Gene Name |
aprataxin and PNKP like factor |
| Synonyms |
2010301N04Rik |
| MMRRC Submission |
042521-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
87605406-87649175 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87607046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 456
(D456G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032130]
[ENSMUST00000065997]
[ENSMUST00000203209]
|
| AlphaFold |
Q9D842 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032130
AA Change: D477G
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032130
Gene: ENSMUSG00000030051
AA Change: D477G
| 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 |
possibly damaging
Transcript: ENSMUST00000065997
AA Change: D456G
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066232
Gene: ENSMUSG00000030051
AA Change: D456G
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 3425401B19Rik |
T |
C |
14: 32,385,245 (GRCm39) |
D240G |
possibly damaging |
Het |
| Brd8 |
A |
G |
18: 34,740,489 (GRCm39) |
F445S |
probably damaging |
Het |
| Coro1b |
C |
T |
19: 4,200,709 (GRCm39) |
R214C |
possibly damaging |
Het |
| Dop1a |
T |
A |
9: 86,402,109 (GRCm39) |
I1101K |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,523,983 (GRCm39) |
V728A |
probably benign |
Het |
| Gosr1 |
T |
A |
11: 76,625,392 (GRCm39) |
|
probably null |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Ino80 |
T |
A |
2: 119,273,073 (GRCm39) |
T468S |
probably damaging |
Het |
| Kcnab2 |
T |
C |
4: 152,486,397 (GRCm39) |
K134E |
probably damaging |
Het |
| Klhl17 |
C |
T |
4: 156,318,344 (GRCm39) |
V93I |
possibly damaging |
Het |
| Kmt2c |
G |
T |
5: 25,519,393 (GRCm39) |
P2239Q |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,173 (GRCm39) |
F161L |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,537,246 (GRCm39) |
I14F |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,813,974 (GRCm39) |
|
probably null |
Het |
| Musk |
A |
C |
4: 58,366,899 (GRCm39) |
I506L |
probably damaging |
Het |
| Mydgf |
C |
T |
17: 56,483,953 (GRCm39) |
V158I |
probably damaging |
Het |
| Ncapd3 |
C |
T |
9: 26,963,071 (GRCm39) |
P459S |
possibly damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or13a19 |
A |
T |
7: 139,903,427 (GRCm39) |
K272* |
probably null |
Het |
| Or2w6 |
A |
T |
13: 21,842,794 (GRCm39) |
I233N |
possibly damaging |
Het |
| Or5d45 |
A |
G |
2: 88,153,992 (GRCm39) |
V19A |
probably benign |
Het |
| Pnmt |
T |
A |
11: 98,277,477 (GRCm39) |
L7Q |
probably benign |
Het |
| Rerg |
T |
C |
6: 137,033,142 (GRCm39) |
I197V |
probably damaging |
Het |
| Sgo2a |
T |
C |
1: 58,037,293 (GRCm39) |
S13P |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,910,194 (GRCm39) |
S199P |
probably benign |
Het |
| Smc1b |
T |
C |
15: 85,001,305 (GRCm39) |
|
probably benign |
Het |
| Spata7 |
T |
C |
12: 98,614,712 (GRCm39) |
S115P |
possibly damaging |
Het |
| Ssh2 |
A |
G |
11: 77,316,146 (GRCm39) |
T250A |
possibly damaging |
Het |
| Sv2a |
A |
G |
3: 96,098,071 (GRCm39) |
N558S |
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,401,305 (GRCm39) |
|
probably benign |
Het |
| Tmem39a |
A |
G |
16: 38,405,561 (GRCm39) |
Y46C |
probably benign |
Het |
| Vmn2r2 |
A |
G |
3: 64,024,578 (GRCm39) |
S668P |
possibly damaging |
Het |
| Vwa1 |
C |
A |
4: 155,855,057 (GRCm39) |
A326S |
probably benign |
Het |
| Xpo6 |
A |
G |
7: 125,752,115 (GRCm39) |
M327T |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTATTTCACTGAAGGCTGG -3'
(R):5'- AAAGTCTTGCTGAAGGTAGACATTC -3'
Sequencing Primer
(F):5'- CACTGAAGGCTGGTGTTTCAATG -3'
(R):5'- CTGGATGAAGATGACGATG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation