Incidental Mutation 'R6772:Aplf'
| ID |
532209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aplf
|
| Ensembl Gene |
ENSMUSG00000030051 |
| Gene Name |
aprataxin and PNKP like factor |
| Synonyms |
2010301N04Rik |
| MMRRC Submission |
044888-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R6772 (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 87640781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 76
(E76G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032130]
[ENSMUST00000065997]
[ENSMUST00000203209]
|
| AlphaFold |
Q9D842 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032130
AA Change: E76G
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032130
Gene: ENSMUSG00000030051
AA Change: E76G
| 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: E55G
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000066232
Gene: ENSMUSG00000030051
AA Change: E55G
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
97% (36/37) |
| 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 |
|---|
| Abca16 |
A |
T |
7: 120,126,276 (GRCm39) |
D1144V |
probably damaging |
Het |
| Ankrd13a |
A |
G |
5: 114,939,804 (GRCm39) |
H477R |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,958,972 (GRCm39) |
I27F |
probably damaging |
Het |
| Bbs1 |
A |
G |
19: 4,956,618 (GRCm39) |
|
probably benign |
Het |
| Camk2a |
T |
C |
18: 61,102,092 (GRCm39) |
S332P |
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,027,663 (GRCm39) |
F1013L |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,588,092 (GRCm39) |
I707F |
possibly damaging |
Het |
| Cd4 |
G |
A |
6: 124,849,421 (GRCm39) |
T202I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,914,983 (GRCm39) |
S997P |
probably benign |
Het |
| Cfap77 |
T |
C |
2: 28,944,951 (GRCm39) |
T24A |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,621,609 (GRCm39) |
R1019H |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,063,140 (GRCm39) |
V517F |
probably benign |
Het |
| Exosc10 |
G |
A |
4: 148,665,591 (GRCm39) |
D818N |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,043,240 (GRCm39) |
G324S |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ifi206 |
T |
C |
1: 173,308,773 (GRCm39) |
M408V |
unknown |
Het |
| Kdm4a |
T |
C |
4: 117,999,752 (GRCm39) |
|
probably null |
Het |
| Neo1 |
T |
A |
9: 58,810,259 (GRCm39) |
Q1064L |
probably damaging |
Het |
| Nphp4 |
G |
A |
4: 152,628,863 (GRCm39) |
V750I |
probably benign |
Het |
| Pcdhac1 |
T |
C |
18: 37,223,289 (GRCm39) |
V34A |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,487,141 (GRCm39) |
I302V |
probably benign |
Het |
| Prl6a1 |
A |
G |
13: 27,503,031 (GRCm39) |
D209G |
probably damaging |
Het |
| Pspn |
T |
C |
17: 57,306,515 (GRCm39) |
Q138R |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,977,829 (GRCm39) |
Y134C |
probably damaging |
Het |
| Rlbp1 |
G |
A |
7: 79,033,798 (GRCm39) |
|
probably benign |
Het |
| Rpia |
T |
C |
6: 70,762,532 (GRCm39) |
I108V |
probably benign |
Het |
| Tcaf1 |
A |
T |
6: 42,652,210 (GRCm39) |
H757Q |
probably damaging |
Het |
| Ttc8 |
A |
C |
12: 98,909,848 (GRCm39) |
S143R |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,294,932 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,194,541 (GRCm39) |
K4280* |
probably null |
Het |
| Vmn2r15 |
C |
A |
5: 109,434,238 (GRCm39) |
S822I |
probably damaging |
Het |
| Vps53 |
A |
T |
11: 76,070,324 (GRCm39) |
M1K |
probably null |
Het |
| Zfp362 |
A |
G |
4: 128,684,053 (GRCm39) |
M18T |
possibly damaging |
Het |
| Zfp429 |
A |
G |
13: 67,538,317 (GRCm39) |
C376R |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,496,466 (GRCm39) |
N1395S |
probably damaging |
Het |
| Zmynd8 |
T |
A |
2: 165,649,521 (GRCm39) |
Q857H |
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 |
|
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 |
|
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'- TGACTCAACCCTAGAGTGATTTCC -3'
(R):5'- ATTGCAGTCAATGGTGCCAG -3'
Sequencing Primer
(F):5'- TCCCTGAAGCATCTGTGAAG -3'
(R):5'- AGTCAATGGTGCCAGGCTCAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation