Incidental Mutation 'R0094:Ap5z1'
ID |
64001 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap5z1
|
Ensembl Gene |
ENSMUSG00000039623 |
Gene Name |
adaptor-related protein complex 5, zeta 1 subunit |
Synonyms |
C330006K01Rik |
MMRRC Submission |
038380-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.213)
|
Stock # |
R0094 (G1)
|
Quality Score |
101 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
142449699-142464465 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 142462567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 626
(V626M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143179
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038699]
[ENSMUST00000196055]
|
AlphaFold |
Q3U829 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038699
AA Change: V642M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000041863 Gene: ENSMUSG00000039623 AA Change: V642M
Domain | Start | End | E-Value | Type |
low complexity region
|
271 |
294 |
N/A |
INTRINSIC |
Pfam:SPG48
|
319 |
437 |
2.9e-45 |
PFAM |
low complexity region
|
579 |
584 |
N/A |
INTRINSIC |
low complexity region
|
617 |
628 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196055
AA Change: V626M
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000143179 Gene: ENSMUSG00000039623 AA Change: V626M
Domain | Start | End | E-Value | Type |
low complexity region
|
271 |
294 |
N/A |
INTRINSIC |
Pfam:SPG48
|
318 |
758 |
2.6e-181 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196405
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197293
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198135
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
T |
A |
9: 46,218,184 (GRCm39) |
T185S |
possibly damaging |
Het |
Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
Cacna2d3 |
C |
T |
14: 28,892,460 (GRCm39) |
|
probably null |
Het |
Cfap77 |
A |
T |
2: 28,874,446 (GRCm39) |
V128D |
probably damaging |
Het |
Colgalt1 |
T |
C |
8: 72,075,802 (GRCm39) |
V483A |
probably damaging |
Het |
Dcdc2b |
T |
C |
4: 129,504,104 (GRCm39) |
|
probably null |
Het |
Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
Dtx1 |
A |
G |
5: 120,820,689 (GRCm39) |
Y455H |
probably damaging |
Het |
Frmpd1 |
C |
A |
4: 45,284,899 (GRCm39) |
S1240* |
probably null |
Het |
Gypa |
T |
A |
8: 81,227,560 (GRCm39) |
H69Q |
unknown |
Het |
Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
Mroh7 |
C |
T |
4: 106,560,381 (GRCm39) |
G641E |
probably damaging |
Het |
Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
Pigs |
T |
A |
11: 78,230,864 (GRCm39) |
N370K |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
Rfc4 |
G |
T |
16: 22,934,178 (GRCm39) |
Q208K |
probably benign |
Het |
Rpa2 |
T |
C |
4: 132,497,893 (GRCm39) |
S52P |
probably damaging |
Het |
Sirpb1c |
G |
T |
3: 15,892,922 (GRCm39) |
T94K |
possibly damaging |
Het |
Sis |
A |
T |
3: 72,828,770 (GRCm39) |
N1136K |
probably damaging |
Het |
Spp2 |
T |
A |
1: 88,348,402 (GRCm39) |
|
probably null |
Het |
Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
Vmn1r213 |
A |
G |
13: 23,195,819 (GRCm39) |
H134R |
probably damaging |
Het |
Vmn2r59 |
T |
C |
7: 41,661,722 (GRCm39) |
R698G |
probably benign |
Het |
|
Other mutations in Ap5z1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01382:Ap5z1
|
APN |
5 |
142,458,006 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01456:Ap5z1
|
APN |
5 |
142,453,791 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01656:Ap5z1
|
APN |
5 |
142,456,069 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02079:Ap5z1
|
APN |
5 |
142,462,868 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02134:Ap5z1
|
APN |
5 |
142,460,214 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02662:Ap5z1
|
APN |
5 |
142,462,644 (GRCm39) |
splice site |
probably null |
|
IGL02805:Ap5z1
|
APN |
5 |
142,456,038 (GRCm39) |
unclassified |
probably benign |
|
R0057:Ap5z1
|
UTSW |
5 |
142,456,144 (GRCm39) |
unclassified |
probably benign |
|
R0057:Ap5z1
|
UTSW |
5 |
142,456,144 (GRCm39) |
unclassified |
probably benign |
|
R0395:Ap5z1
|
UTSW |
5 |
142,456,317 (GRCm39) |
unclassified |
probably benign |
|
R0811:Ap5z1
|
UTSW |
5 |
142,461,546 (GRCm39) |
missense |
probably benign |
0.00 |
R0812:Ap5z1
|
UTSW |
5 |
142,461,546 (GRCm39) |
missense |
probably benign |
0.00 |
R1241:Ap5z1
|
UTSW |
5 |
142,455,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R1248:Ap5z1
|
UTSW |
5 |
142,460,255 (GRCm39) |
missense |
probably benign |
0.02 |
R1374:Ap5z1
|
UTSW |
5 |
142,456,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R1616:Ap5z1
|
UTSW |
5 |
142,457,991 (GRCm39) |
missense |
probably benign |
0.10 |
R1923:Ap5z1
|
UTSW |
5 |
142,458,096 (GRCm39) |
missense |
probably benign |
0.30 |
R2423:Ap5z1
|
UTSW |
5 |
142,462,532 (GRCm39) |
missense |
probably benign |
0.02 |
R3790:Ap5z1
|
UTSW |
5 |
142,456,168 (GRCm39) |
missense |
probably benign |
|
R4859:Ap5z1
|
UTSW |
5 |
142,459,748 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4965:Ap5z1
|
UTSW |
5 |
142,453,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R5147:Ap5z1
|
UTSW |
5 |
142,452,265 (GRCm39) |
missense |
probably benign |
0.02 |
R5311:Ap5z1
|
UTSW |
5 |
142,453,442 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5531:Ap5z1
|
UTSW |
5 |
142,453,536 (GRCm39) |
missense |
probably benign |
|
R5569:Ap5z1
|
UTSW |
5 |
142,460,206 (GRCm39) |
missense |
probably damaging |
0.99 |
R5725:Ap5z1
|
UTSW |
5 |
142,454,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R7287:Ap5z1
|
UTSW |
5 |
142,459,802 (GRCm39) |
missense |
probably damaging |
0.99 |
R7407:Ap5z1
|
UTSW |
5 |
142,452,330 (GRCm39) |
missense |
probably benign |
0.06 |
R7537:Ap5z1
|
UTSW |
5 |
142,463,053 (GRCm39) |
missense |
probably benign |
0.06 |
R7894:Ap5z1
|
UTSW |
5 |
142,456,191 (GRCm39) |
nonsense |
probably null |
|
R7894:Ap5z1
|
UTSW |
5 |
142,452,039 (GRCm39) |
missense |
probably benign |
0.34 |
R7895:Ap5z1
|
UTSW |
5 |
142,456,313 (GRCm39) |
critical splice donor site |
probably null |
|
R8022:Ap5z1
|
UTSW |
5 |
142,455,904 (GRCm39) |
critical splice donor site |
probably null |
|
R8244:Ap5z1
|
UTSW |
5 |
142,459,735 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8823:Ap5z1
|
UTSW |
5 |
142,460,191 (GRCm39) |
missense |
probably benign |
0.19 |
R8867:Ap5z1
|
UTSW |
5 |
142,463,011 (GRCm39) |
missense |
probably benign |
0.05 |
R9673:Ap5z1
|
UTSW |
5 |
142,463,113 (GRCm39) |
missense |
probably benign |
0.32 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGGCTCCTTAATGGGTGGCAAG -3'
(R):5'- AGGGCTTCCAGGGCTTCAAAGAAC -3'
Sequencing Primer
(F):5'- CCTTAATGGGTGGCAAGTTTTCC -3'
(R):5'- CCAGGGCTTCAAAGAACTTGTTG -3'
|
Posted On |
2013-08-06 |