Incidental Mutation 'R1127:Aplf'
ID |
96298 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aplf
|
Ensembl Gene |
ENSMUSG00000030051 |
Gene Name |
aprataxin and PNKP like factor |
Synonyms |
2010301N04Rik |
MMRRC Submission |
039200-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R1127 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
87605406-87649175 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87623273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 269
(T269A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032130]
[ENSMUST00000065997]
[ENSMUST00000203209]
|
AlphaFold |
Q9D842 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032130
AA Change: T290A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000032130 Gene: ENSMUSG00000030051 AA Change: T290A
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
AA Change: T269A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000066232 Gene: ENSMUSG00000030051 AA Change: T269A
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203776
|
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.1%
- 20x: 80.6%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700088E04Rik |
T |
C |
15: 79,019,403 (GRCm39) |
D179G |
probably benign |
Het |
Aadacl2fm2 |
G |
A |
3: 59,659,314 (GRCm39) |
E256K |
probably benign |
Het |
Adh7 |
C |
T |
3: 137,927,490 (GRCm39) |
A12V |
probably benign |
Het |
Ankhd1 |
T |
A |
18: 36,767,399 (GRCm39) |
N1179K |
probably damaging |
Het |
Ankrd50 |
T |
C |
3: 38,511,336 (GRCm39) |
T344A |
probably benign |
Het |
Cavin4 |
T |
C |
4: 48,663,637 (GRCm39) |
S6P |
probably damaging |
Het |
Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
Cyp2c66 |
A |
T |
19: 39,151,812 (GRCm39) |
N176Y |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,522,253 (GRCm39) |
D3980V |
probably damaging |
Het |
Drc7 |
G |
T |
8: 95,799,416 (GRCm39) |
E530D |
probably damaging |
Het |
Dst |
A |
G |
1: 34,314,358 (GRCm39) |
T6434A |
probably damaging |
Het |
Dtx3l |
A |
G |
16: 35,759,127 (GRCm39) |
S41P |
possibly damaging |
Het |
Eef1b2 |
G |
A |
1: 63,218,616 (GRCm39) |
|
probably null |
Het |
Eml3 |
C |
T |
19: 8,913,672 (GRCm39) |
T43I |
probably damaging |
Het |
Fam110b |
T |
A |
4: 5,799,434 (GRCm39) |
L284Q |
probably damaging |
Het |
Gpr33 |
A |
C |
12: 52,070,252 (GRCm39) |
H262Q |
probably damaging |
Het |
Igfals |
T |
G |
17: 25,099,455 (GRCm39) |
L182R |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,126,205 (GRCm39) |
F496L |
possibly damaging |
Het |
Muc4 |
T |
A |
16: 32,569,343 (GRCm39) |
H134Q |
possibly damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Nxn |
A |
T |
11: 76,164,895 (GRCm39) |
C205* |
probably null |
Het |
Oga |
G |
A |
19: 45,740,594 (GRCm39) |
R914* |
probably null |
Het |
Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
Or52h9 |
C |
A |
7: 104,202,293 (GRCm39) |
H56N |
possibly damaging |
Het |
Pamr1 |
A |
T |
2: 102,469,698 (GRCm39) |
I415F |
possibly damaging |
Het |
Ppp4r4 |
G |
A |
12: 103,545,327 (GRCm39) |
G200E |
probably damaging |
Het |
Pramel29 |
G |
A |
4: 143,933,694 (GRCm39) |
T471I |
probably damaging |
Het |
Prdm16 |
C |
A |
4: 154,613,256 (GRCm39) |
S57I |
probably damaging |
Het |
Psmd11 |
A |
G |
11: 80,362,410 (GRCm39) |
K157R |
possibly damaging |
Het |
Ptprn2 |
G |
A |
12: 117,175,628 (GRCm39) |
|
probably null |
Het |
Pus7 |
G |
A |
5: 23,973,793 (GRCm39) |
H234Y |
probably benign |
Het |
Rd3l |
A |
G |
12: 111,946,717 (GRCm39) |
Y20H |
probably benign |
Het |
Stk31 |
A |
G |
6: 49,386,141 (GRCm39) |
D160G |
probably damaging |
Het |
Sycp2 |
C |
T |
2: 178,016,159 (GRCm39) |
E768K |
possibly damaging |
Het |
Tango6 |
T |
C |
8: 107,415,527 (GRCm39) |
V116A |
probably benign |
Het |
Ttn |
C |
T |
2: 76,697,574 (GRCm39) |
|
probably benign |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Xylb |
T |
C |
9: 119,212,443 (GRCm39) |
I427T |
probably damaging |
Het |
Zc3h7a |
T |
G |
16: 10,956,939 (GRCm39) |
D890A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTTCTTCTGAACAGCCCAGCAC -3'
(R):5'- GGAGCATCGTCTCACGTTTCCTTTG -3'
Sequencing Primer
(F):5'- GTCTGTGTGCAAAGCATCAG -3'
(R):5'- gaactctctctgttagggcac -3'
|
Posted On |
2014-01-05 |