Incidental Mutation 'R0057:Ap5z1'
ID |
17100 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap5z1
|
Ensembl Gene |
ENSMUSG00000039623 |
Gene Name |
adaptor-related protein complex 5, zeta 1 subunit |
Synonyms |
C330006K01Rik |
MMRRC Submission |
038351-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
R0057 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
142449699-142464465 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 142456144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143040
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038699]
[ENSMUST00000196055]
[ENSMUST00000197173]
[ENSMUST00000198967]
|
AlphaFold |
Q3U829 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038699
|
SMART Domains |
Protein: ENSMUSP00000041863 Gene: ENSMUSG00000039623
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
|
SMART Domains |
Protein: ENSMUSP00000143179 Gene: ENSMUSG00000039623
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 |
probably benign
Transcript: ENSMUST00000197173
|
SMART Domains |
Protein: ENSMUSP00000142777 Gene: ENSMUSG00000039623
Domain | Start | End | E-Value | Type |
low complexity region
|
74 |
93 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197293
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198135
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198967
|
SMART Domains |
Protein: ENSMUSP00000143040 Gene: ENSMUSG00000039623
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
54 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 90.1%
- 3x: 87.8%
- 10x: 82.7%
- 20x: 75.7%
|
Validation Efficiency |
89% (65/73) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
T |
11: 109,832,385 (GRCm39) |
F1309L |
possibly damaging |
Het |
Abcc6 |
C |
T |
7: 45,669,567 (GRCm39) |
A163T |
probably benign |
Het |
Adam23 |
T |
A |
1: 63,610,078 (GRCm39) |
H693Q |
probably damaging |
Het |
Afg3l2 |
A |
G |
18: 67,556,156 (GRCm39) |
F392L |
probably damaging |
Het |
Ak9 |
A |
T |
10: 41,268,724 (GRCm39) |
T1055S |
probably benign |
Het |
Arhgef10l |
A |
G |
4: 140,338,529 (GRCm39) |
|
probably benign |
Het |
Bloc1s6 |
T |
A |
2: 122,586,141 (GRCm39) |
|
probably benign |
Het |
Caskin1 |
A |
G |
17: 24,723,870 (GRCm39) |
N886S |
probably damaging |
Het |
Celsr1 |
A |
C |
15: 85,914,963 (GRCm39) |
S1003R |
probably benign |
Het |
Ctse |
G |
T |
1: 131,591,109 (GRCm39) |
D97Y |
probably damaging |
Het |
Cux1 |
T |
A |
5: 136,285,136 (GRCm39) |
I505F |
probably damaging |
Het |
Dcaf11 |
T |
C |
14: 55,806,767 (GRCm39) |
V490A |
probably benign |
Het |
Dscam |
A |
C |
16: 96,474,936 (GRCm39) |
W1209G |
probably damaging |
Het |
Emc8 |
A |
G |
8: 121,385,822 (GRCm39) |
|
probably benign |
Het |
Entpd6 |
A |
G |
2: 150,600,748 (GRCm39) |
K152R |
probably null |
Het |
Eps8l2 |
C |
T |
7: 140,922,884 (GRCm39) |
T49I |
probably benign |
Het |
Fcsk |
C |
T |
8: 111,620,400 (GRCm39) |
|
probably benign |
Het |
Gm12251 |
C |
A |
11: 58,283,867 (GRCm39) |
|
probably benign |
Het |
Gna11 |
A |
G |
10: 81,366,774 (GRCm39) |
M312T |
probably benign |
Het |
Hacd2 |
T |
A |
16: 34,895,997 (GRCm39) |
V105D |
probably damaging |
Het |
Il17a |
T |
A |
1: 20,803,881 (GRCm39) |
I92N |
probably damaging |
Het |
Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
Irak4 |
A |
C |
15: 94,451,753 (GRCm39) |
R115S |
probably benign |
Het |
Jarid2 |
C |
T |
13: 45,038,332 (GRCm39) |
H77Y |
probably damaging |
Het |
Kcnk6 |
A |
T |
7: 28,925,088 (GRCm39) |
L176Q |
probably damaging |
Het |
Kmt2b |
A |
T |
7: 30,276,217 (GRCm39) |
|
probably benign |
Het |
Kremen2 |
A |
C |
17: 23,962,202 (GRCm39) |
I210S |
possibly damaging |
Het |
Ldah |
T |
C |
12: 8,288,432 (GRCm39) |
|
probably benign |
Het |
Lgals9 |
A |
T |
11: 78,862,262 (GRCm39) |
|
probably benign |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Mfsd4b4 |
T |
A |
10: 39,891,097 (GRCm38) |
|
probably benign |
Het |
Msh4 |
C |
T |
3: 153,575,318 (GRCm39) |
A686T |
probably benign |
Het |
Mycbp2 |
T |
C |
14: 103,389,578 (GRCm39) |
N3411D |
probably damaging |
Het |
Myt1l |
A |
G |
12: 29,892,611 (GRCm39) |
|
probably null |
Het |
Nmbr |
A |
G |
10: 14,636,268 (GRCm39) |
N79S |
probably damaging |
Het |
Npsr1 |
A |
T |
9: 24,211,723 (GRCm39) |
I84F |
probably damaging |
Het |
Or52h1 |
G |
T |
7: 103,829,536 (GRCm39) |
H26Q |
probably benign |
Het |
Or5m10b |
C |
A |
2: 85,699,597 (GRCm39) |
Y220* |
probably null |
Het |
Or6z5 |
T |
C |
7: 6,477,679 (GRCm39) |
L190P |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,328,509 (GRCm39) |
Y328C |
probably damaging |
Het |
Rasal3 |
A |
G |
17: 32,610,357 (GRCm39) |
S977P |
probably benign |
Het |
Ros1 |
C |
T |
10: 52,056,287 (GRCm39) |
V68I |
probably benign |
Het |
Shmt2 |
G |
A |
10: 127,356,917 (GRCm39) |
T31M |
possibly damaging |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Snrnp200 |
C |
G |
2: 127,079,827 (GRCm39) |
L1899V |
probably damaging |
Het |
Snrnp48 |
T |
A |
13: 38,400,356 (GRCm39) |
C154* |
probably null |
Het |
Tdrd6 |
G |
A |
17: 43,928,052 (GRCm39) |
|
probably benign |
Het |
Tmem175 |
C |
T |
5: 108,787,428 (GRCm39) |
H92Y |
probably damaging |
Het |
Tom1l1 |
G |
A |
11: 90,575,975 (GRCm39) |
|
probably benign |
Het |
Top3a |
C |
T |
11: 60,631,510 (GRCm39) |
A951T |
probably benign |
Het |
Tram2 |
C |
T |
1: 21,076,378 (GRCm39) |
R184Q |
probably damaging |
Het |
Trpc4ap |
T |
C |
2: 155,482,406 (GRCm39) |
E528G |
possibly damaging |
Het |
Vwa7 |
G |
A |
17: 35,243,523 (GRCm39) |
S710N |
possibly damaging |
Het |
Zfa-ps |
A |
T |
10: 52,421,202 (GRCm39) |
|
noncoding transcript |
Het |
Zfp770 |
T |
A |
2: 114,027,713 (GRCm39) |
R119* |
probably null |
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 |
|
R0094:Ap5z1
|
UTSW |
5 |
142,462,567 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Posted On |
2013-01-20 |