Incidental Mutation 'R8244:Ap5z1'
| ID |
640863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap5z1
|
| Ensembl Gene |
ENSMUSG00000039623 |
| Gene Name |
adaptor-related protein complex 5, zeta 1 subunit |
| Synonyms |
C330006K01Rik |
| MMRRC Submission |
067672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
R8244 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
142449699-142464465 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 142459735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 462
(T462S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038699]
[ENSMUST00000196055]
[ENSMUST00000197173]
|
| AlphaFold |
Q3U829 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038699
AA Change: T462S
PolyPhen 2
Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000041863
Gene: ENSMUSG00000039623
AA Change: T462S
| 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 |
possibly damaging
Transcript: ENSMUST00000196055
AA Change: T462S
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143179
Gene: ENSMUSG00000039623
AA Change: T462S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
271 |
294 |
N/A |
INTRINSIC |
|
Pfam:SPG48
|
318 |
758 |
2.6e-181 |
PFAM |
|
| 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 |
|
| Meta Mutation Damage Score |
0.1613 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (44/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
C |
7: 27,271,004 (GRCm39) |
I133T |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
| Alg5 |
A |
G |
3: 54,646,221 (GRCm39) |
I29V |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,690,183 (GRCm39) |
I1216T |
probably benign |
Het |
| Apc2 |
A |
T |
10: 80,151,166 (GRCm39) |
R2073S |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,060,548 (GRCm39) |
E3010V |
probably damaging |
Het |
| Arid3c |
T |
G |
4: 41,729,997 (GRCm39) |
E66A |
possibly damaging |
Het |
| Atf7 |
A |
G |
15: 102,437,301 (GRCm39) |
S54P |
unknown |
Het |
| Cbx3 |
C |
T |
6: 51,452,350 (GRCm39) |
T55I |
probably benign |
Het |
| Clptm1 |
A |
T |
7: 19,372,916 (GRCm39) |
F205I |
possibly damaging |
Het |
| Cramp1 |
T |
A |
17: 25,190,384 (GRCm39) |
I1117F |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,796,578 (GRCm39) |
*935Q |
probably null |
Het |
| Dock2 |
A |
T |
11: 34,586,280 (GRCm39) |
F511I |
probably damaging |
Het |
| Efr3a |
G |
A |
15: 65,687,217 (GRCm39) |
R15H |
probably damaging |
Het |
| Ehmt2 |
A |
G |
17: 35,124,238 (GRCm39) |
D385G |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,040,613 (GRCm39) |
|
probably benign |
Het |
| Gm21680 |
T |
C |
5: 26,173,983 (GRCm39) |
E207G |
probably damaging |
Het |
| Igsf23 |
A |
T |
7: 19,675,798 (GRCm39) |
C141S |
possibly damaging |
Het |
| Ktn1 |
A |
T |
14: 47,912,280 (GRCm39) |
E349V |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,396,794 (GRCm39) |
D424G |
|
Het |
| Lrrc9 |
A |
G |
12: 72,546,384 (GRCm39) |
I1190V |
probably benign |
Het |
| Lztfl1 |
T |
A |
9: 123,541,514 (GRCm39) |
I102F |
probably damaging |
Het |
| Mapk11 |
G |
T |
15: 89,030,007 (GRCm39) |
T203K |
possibly damaging |
Het |
| Mgam |
T |
A |
6: 40,727,520 (GRCm39) |
I1315N |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,331,750 (GRCm39) |
M695T |
probably benign |
Het |
| Pdcd4 |
A |
G |
19: 53,895,965 (GRCm39) |
T8A |
probably benign |
Het |
| Pramel27 |
T |
C |
4: 143,579,854 (GRCm39) |
Y480H |
probably damaging |
Het |
| Ptx4 |
A |
G |
17: 25,341,839 (GRCm39) |
K105E |
possibly damaging |
Het |
| Pxn |
C |
T |
5: 115,690,302 (GRCm39) |
P381L |
probably damaging |
Het |
| Rtn4rl1 |
T |
C |
11: 75,156,276 (GRCm39) |
L236P |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Sh2b2 |
G |
T |
5: 136,256,291 (GRCm39) |
S247* |
probably null |
Het |
| Sim2 |
T |
A |
16: 93,910,222 (GRCm39) |
V208E |
probably damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,548 (GRCm39) |
L247P |
probably damaging |
Het |
| Sox1 |
GGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGG |
8: 12,446,468 (GRCm39) |
|
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,330,406 (GRCm39) |
D1937G |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,847,974 (GRCm39) |
N1158S |
probably benign |
Het |
| Tns1 |
G |
T |
1: 73,976,410 (GRCm39) |
A1146E |
probably damaging |
Het |
| Tom1l1 |
T |
C |
11: 90,548,647 (GRCm39) |
E308G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,659,051 (GRCm39) |
K12262* |
probably null |
Het |
| Vps13b |
G |
T |
15: 35,917,349 (GRCm39) |
G3731V |
probably damaging |
Het |
| Wdr20 |
G |
A |
12: 110,760,076 (GRCm39) |
E321K |
probably benign |
Het |
| Zfp516 |
G |
T |
18: 82,974,458 (GRCm39) |
G219C |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,697,933 (GRCm39) |
C259S |
possibly damaging |
Het |
| Zscan20 |
T |
C |
4: 128,479,759 (GRCm39) |
T911A |
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 |
|
|
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 |
|
|
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'- GGTCCAGTGTCCCTGTCTAAAC -3'
(R):5'- ACATGAGTGTGCTTGAGGAG -3'
Sequencing Primer
(F):5'- CTAAACAGAGTGTCTTTGTGCTGAG -3'
(R):5'- CGACCCAAAGATGTACTACTGTCTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation