Incidental Mutation 'IGL02134:Ap5z1'
| ID |
281221 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ap5z1
|
| Ensembl Gene |
ENSMUSG00000039623 |
| Gene Name |
adaptor-related protein complex 5, zeta 1 subunit |
| Synonyms |
C330006K01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
IGL02134
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
142449699-142464465 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142460214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 514
(F514L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038699]
[ENSMUST00000196055]
|
| AlphaFold |
Q3U829 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038699
AA Change: F514L
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000041863
Gene: ENSMUSG00000039623
AA Change: F514L
| 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: F498L
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000143179
Gene: ENSMUSG00000039623
AA Change: F498L
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
T |
C |
17: 42,980,581 (GRCm39) |
N168S |
probably damaging |
Het |
| Angptl3 |
A |
T |
4: 98,919,349 (GRCm39) |
R36S |
probably damaging |
Het |
| Arhgef39 |
C |
A |
4: 43,497,578 (GRCm39) |
|
probably null |
Het |
| Aste1 |
A |
G |
9: 105,275,043 (GRCm39) |
S11G |
probably damaging |
Het |
| Cadm4 |
T |
C |
7: 24,198,986 (GRCm39) |
V87A |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,451,777 (GRCm39) |
I413T |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,430,230 (GRCm39) |
|
probably null |
Het |
| Dera |
C |
T |
6: 137,807,269 (GRCm39) |
A239V |
probably damaging |
Het |
| Ecm1 |
T |
C |
3: 95,643,499 (GRCm39) |
E283G |
probably damaging |
Het |
| Eml6 |
G |
T |
11: 29,709,066 (GRCm39) |
H24N |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,811,240 (GRCm39) |
K1425E |
possibly damaging |
Het |
| Fgd3 |
G |
A |
13: 49,450,225 (GRCm39) |
S8L |
possibly damaging |
Het |
| Gli1 |
T |
C |
10: 127,172,369 (GRCm39) |
E228G |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,990,771 (GRCm39) |
|
probably benign |
Het |
| Iqcc |
A |
G |
4: 129,512,818 (GRCm39) |
S11P |
probably damaging |
Het |
| Itpkc |
G |
A |
7: 26,927,300 (GRCm39) |
Q205* |
probably null |
Het |
| Jmjd1c |
T |
A |
10: 67,056,171 (GRCm39) |
S530R |
possibly damaging |
Het |
| Kcnq1 |
A |
G |
7: 142,737,453 (GRCm39) |
H257R |
possibly damaging |
Het |
| Kcnt2 |
G |
A |
1: 140,304,121 (GRCm39) |
V164I |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,288,763 (GRCm39) |
H603R |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,343,723 (GRCm39) |
|
probably null |
Het |
| Lrrn2 |
A |
G |
1: 132,865,555 (GRCm39) |
M207V |
possibly damaging |
Het |
| Miip |
A |
G |
4: 147,949,735 (GRCm39) |
|
probably benign |
Het |
| Mrps35 |
T |
C |
6: 146,949,808 (GRCm39) |
|
probably benign |
Het |
| Nuf2 |
A |
T |
1: 169,341,069 (GRCm39) |
M184K |
probably benign |
Het |
| Or10q1 |
C |
A |
19: 13,727,165 (GRCm39) |
R232S |
probably benign |
Het |
| Or14j2 |
C |
T |
17: 37,886,249 (GRCm39) |
E22K |
probably benign |
Het |
| Or2f2 |
A |
G |
6: 42,767,398 (GRCm39) |
T142A |
probably benign |
Het |
| Or4a15 |
A |
T |
2: 89,193,172 (GRCm39) |
N200K |
probably damaging |
Het |
| Or8g32 |
A |
T |
9: 39,305,830 (GRCm39) |
I248F |
probably damaging |
Het |
| Os9 |
T |
C |
10: 126,956,861 (GRCm39) |
I42V |
possibly damaging |
Het |
| Rapgef4 |
A |
C |
2: 72,010,405 (GRCm39) |
Q177P |
probably damaging |
Het |
| Rhpn2 |
T |
C |
7: 35,070,536 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,314,958 (GRCm39) |
R1916G |
probably damaging |
Het |
| Serpine1 |
T |
A |
5: 137,095,889 (GRCm39) |
|
probably benign |
Het |
| Snd1 |
C |
T |
6: 28,880,278 (GRCm39) |
P684L |
possibly damaging |
Het |
| Tgds |
T |
C |
14: 118,350,534 (GRCm39) |
N340D |
probably benign |
Het |
| Trpc4 |
A |
T |
3: 54,223,075 (GRCm39) |
Y706F |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,584,166 (GRCm39) |
D22314V |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,519,163 (GRCm39) |
T2263I |
probably damaging |
Het |
| Vmn1r11 |
A |
T |
6: 57,115,022 (GRCm39) |
T229S |
possibly damaging |
Het |
| Zfp142 |
T |
G |
1: 74,609,022 (GRCm39) |
H1488P |
probably damaging |
Het |
| Zfp219 |
A |
G |
14: 52,246,758 (GRCm39) |
L78P |
probably damaging |
Het |
| Zfp629 |
T |
A |
7: 127,211,042 (GRCm39) |
T256S |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation