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: 0.213)
|
Stock # |
R2423 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
142449699-142464465 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142462532 bp (GRCm39)
|
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: 60,616,656 (GRCm39) |
S284P |
possibly damaging |
Het |
Arhgap9 |
A |
T |
10: 127,162,993 (GRCm39) |
|
probably null |
Het |
Brf1 |
G |
A |
12: 112,963,819 (GRCm39) |
A53V |
probably benign |
Het |
Cyp1a2 |
C |
T |
9: 57,587,232 (GRCm39) |
R353Q |
probably damaging |
Het |
Deup1 |
G |
T |
9: 15,503,754 (GRCm39) |
S269* |
probably null |
Het |
F11r |
T |
A |
1: 171,289,191 (GRCm39) |
Y218N |
possibly damaging |
Het |
Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
Mapkbp1 |
A |
T |
2: 119,855,071 (GRCm39) |
E1430V |
probably benign |
Het |
Mga |
A |
G |
2: 119,795,274 (GRCm39) |
K2986R |
probably damaging |
Het |
Myo9b |
G |
T |
8: 71,780,584 (GRCm39) |
V494L |
probably damaging |
Het |
Nbea |
G |
A |
3: 55,992,727 (GRCm39) |
T293I |
probably damaging |
Het |
Neto2 |
C |
T |
8: 86,396,396 (GRCm39) |
R83Q |
probably damaging |
Het |
Ocm |
A |
T |
5: 143,961,388 (GRCm39) |
|
probably null |
Het |
Or52z14 |
C |
T |
7: 103,253,241 (GRCm39) |
R127C |
probably benign |
Het |
Pcdha11 |
T |
C |
18: 37,140,477 (GRCm39) |
I702T |
possibly damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Rbbp8nl |
A |
T |
2: 179,922,764 (GRCm39) |
S210T |
probably damaging |
Het |
Rbl2 |
A |
T |
8: 91,813,774 (GRCm39) |
I340F |
probably benign |
Het |
Rft1 |
T |
C |
14: 30,388,724 (GRCm39) |
L216P |
possibly damaging |
Het |
Slc26a10 |
T |
A |
10: 127,015,606 (GRCm39) |
|
probably null |
Het |
Slc34a1 |
G |
A |
13: 55,556,865 (GRCm39) |
A235T |
possibly damaging |
Het |
Spag17 |
A |
G |
3: 100,010,772 (GRCm39) |
T2089A |
probably benign |
Het |
Srek1 |
G |
C |
13: 103,889,536 (GRCm39) |
S260* |
probably null |
Het |
Sspo |
T |
C |
6: 48,430,989 (GRCm39) |
V624A |
probably benign |
Het |
Tapt1 |
T |
C |
5: 44,349,795 (GRCm39) |
I251V |
probably benign |
Het |
Tmem248 |
T |
C |
5: 130,258,403 (GRCm39) |
I32T |
probably damaging |
Het |
Tnk1 |
T |
G |
11: 69,746,587 (GRCm39) |
T209P |
probably damaging |
Het |
Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
Trp53tg5 |
T |
A |
2: 164,313,250 (GRCm39) |
R142* |
probably null |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
Vldlr |
C |
T |
19: 27,213,688 (GRCm39) |
T125I |
possibly damaging |
Het |
Vps8 |
A |
G |
16: 21,378,087 (GRCm39) |
T1033A |
probably benign |
Het |
Wiz |
A |
C |
17: 32,580,859 (GRCm39) |
H197Q |
probably damaging |
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 |
|
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 |
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'- AAAGGCTCCTTAATGGGTGGC -3'
(R):5'- TGATCTGTTCCGCTGTGCAC -3'
Sequencing Primer
(F):5'- CCTTAATGGGTGGCAAGTTTTCCC -3'
(R):5'- GTGCACCTCTTGTCCCAAG -3'
|
Posted On |
2014-11-12 |