Incidental Mutation 'R2423:Ap5z1'
| ID |
249432 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap5z1
|
| Ensembl Gene |
ENSMUSG00000039623 |
| Gene Name |
adaptor-related protein complex 5, zeta 1 subunit |
| Synonyms |
C330006K01Rik |
| MMRRC Submission |
040385-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R2423 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
142463944-142478710 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142476777 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 614
(V614A)
|
| 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: V630A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041863
Gene: ENSMUSG00000039623
AA Change: V630A
| 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: V614A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000143179
Gene: ENSMUSG00000039623
AA Change: V614A
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amer2 |
T |
C |
14: 60,379,207 (GRCm38) |
S284P |
possibly damaging |
Het |
| Arhgap9 |
A |
T |
10: 127,327,124 (GRCm38) |
|
probably null |
Het |
| Brf1 |
G |
A |
12: 113,000,199 (GRCm38) |
A53V |
probably benign |
Het |
| Cyp1a2 |
C |
T |
9: 57,679,949 (GRCm38) |
R353Q |
probably damaging |
Het |
| Deup1 |
G |
T |
9: 15,592,458 (GRCm38) |
S269* |
probably null |
Het |
| F11r |
T |
A |
1: 171,461,623 (GRCm38) |
Y218N |
possibly damaging |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm38) |
S89* |
probably null |
Het |
| Mapkbp1 |
A |
T |
2: 120,024,590 (GRCm38) |
E1430V |
probably benign |
Het |
| Mga |
A |
G |
2: 119,964,793 (GRCm38) |
K2986R |
probably damaging |
Het |
| Myo9b |
G |
T |
8: 71,327,940 (GRCm38) |
V494L |
probably damaging |
Het |
| Nbea |
G |
A |
3: 56,085,306 (GRCm38) |
T293I |
probably damaging |
Het |
| Neto2 |
C |
T |
8: 85,669,767 (GRCm38) |
R83Q |
probably damaging |
Het |
| Ocm |
A |
T |
5: 144,024,570 (GRCm38) |
|
probably null |
Het |
| Olfr619 |
C |
T |
7: 103,604,034 (GRCm38) |
R127C |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,007,424 (GRCm38) |
I702T |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,749,317 (GRCm38) |
S538F |
probably damaging |
Het |
| Rbbp8nl |
A |
T |
2: 180,280,971 (GRCm38) |
S210T |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,087,146 (GRCm38) |
I340F |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,666,767 (GRCm38) |
L216P |
possibly damaging |
Het |
| Slc26a10 |
T |
A |
10: 127,179,737 (GRCm38) |
|
probably null |
Het |
| Slc34a1 |
G |
A |
13: 55,409,052 (GRCm38) |
A235T |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 100,103,456 (GRCm38) |
T2089A |
probably benign |
Het |
| Srek1 |
G |
C |
13: 103,753,028 (GRCm38) |
S260* |
probably null |
Het |
| Sspo |
T |
C |
6: 48,454,055 (GRCm38) |
V624A |
probably benign |
Het |
| Tapt1 |
T |
C |
5: 44,192,453 (GRCm38) |
I251V |
probably benign |
Het |
| Tmem248 |
T |
C |
5: 130,229,562 (GRCm38) |
I32T |
probably damaging |
Het |
| Tnk1 |
T |
G |
11: 69,855,761 (GRCm38) |
T209P |
probably damaging |
Het |
| Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,814,790 (GRCm38) |
|
probably null |
Het |
| Trp53tg5 |
T |
A |
2: 164,471,330 (GRCm38) |
R142* |
probably null |
Het |
| Upf1 |
C |
T |
8: 70,338,460 (GRCm38) |
R544H |
probably damaging |
Het |
| Vldlr |
C |
T |
19: 27,236,288 (GRCm38) |
T125I |
possibly damaging |
Het |
| Vps8 |
A |
G |
16: 21,559,337 (GRCm38) |
T1033A |
probably benign |
Het |
| Wiz |
A |
C |
17: 32,361,885 (GRCm38) |
H197Q |
probably damaging |
Het |
|
| Other mutations in Ap5z1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01382:Ap5z1
|
APN |
5 |
142,472,251 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01456:Ap5z1
|
APN |
5 |
142,468,036 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01656:Ap5z1
|
APN |
5 |
142,470,314 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02079:Ap5z1
|
APN |
5 |
142,477,113 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02134:Ap5z1
|
APN |
5 |
142,474,459 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02662:Ap5z1
|
APN |
5 |
142,476,889 (GRCm38) |
splice site |
probably null |
|
|
IGL02805:Ap5z1
|
APN |
5 |
142,470,283 (GRCm38) |
unclassified |
probably benign |
|
|
R0057:Ap5z1
|
UTSW |
5 |
142,470,389 (GRCm38) |
unclassified |
probably benign |
|
|
R0057:Ap5z1
|
UTSW |
5 |
142,470,389 (GRCm38) |
unclassified |
probably benign |
|
|
R0094:Ap5z1
|
UTSW |
5 |
142,476,812 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0395:Ap5z1
|
UTSW |
5 |
142,470,562 (GRCm38) |
unclassified |
probably benign |
|
|
R0811:Ap5z1
|
UTSW |
5 |
142,475,791 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0812:Ap5z1
|
UTSW |
5 |
142,475,791 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1241:Ap5z1
|
UTSW |
5 |
142,470,114 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1248:Ap5z1
|
UTSW |
5 |
142,474,500 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1374:Ap5z1
|
UTSW |
5 |
142,470,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1616:Ap5z1
|
UTSW |
5 |
142,472,236 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1923:Ap5z1
|
UTSW |
5 |
142,472,341 (GRCm38) |
missense |
probably benign |
0.30 |
|
R3790:Ap5z1
|
UTSW |
5 |
142,470,413 (GRCm38) |
missense |
probably benign |
|
|
R4859:Ap5z1
|
UTSW |
5 |
142,473,993 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R4965:Ap5z1
|
UTSW |
5 |
142,467,676 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5147:Ap5z1
|
UTSW |
5 |
142,466,510 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5311:Ap5z1
|
UTSW |
5 |
142,467,687 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5531:Ap5z1
|
UTSW |
5 |
142,467,781 (GRCm38) |
missense |
probably benign |
|
|
R5569:Ap5z1
|
UTSW |
5 |
142,474,451 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5725:Ap5z1
|
UTSW |
5 |
142,468,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7287:Ap5z1
|
UTSW |
5 |
142,474,047 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7407:Ap5z1
|
UTSW |
5 |
142,466,575 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7537:Ap5z1
|
UTSW |
5 |
142,477,298 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7894:Ap5z1
|
UTSW |
5 |
142,470,436 (GRCm38) |
nonsense |
probably null |
|
|
R7894:Ap5z1
|
UTSW |
5 |
142,466,284 (GRCm38) |
missense |
probably benign |
0.34 |
|
R7895:Ap5z1
|
UTSW |
5 |
142,470,558 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8022:Ap5z1
|
UTSW |
5 |
142,470,149 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8244:Ap5z1
|
UTSW |
5 |
142,473,980 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R8823:Ap5z1
|
UTSW |
5 |
142,474,436 (GRCm38) |
missense |
probably benign |
0.19 |
|
R8867:Ap5z1
|
UTSW |
5 |
142,477,256 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9673:Ap5z1
|
UTSW |
5 |
142,477,358 (GRCm38) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGGCTCCTTAATGGGTGGC -3'
(R):5'- TGATCTGTTCCGCTGTGCAC -3'
Sequencing Primer
(F):5'- CCTTAATGGGTGGCAAGTTTTCCC -3'
(R):5'- GTGCACCTCTTGTCCCAAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation