Incidental Mutation 'R1923:Ap5z1'
| ID |
213213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap5z1
|
| Ensembl Gene |
ENSMUSG00000039623 |
| Gene Name |
adaptor-related protein complex 5, zeta 1 subunit |
| Synonyms |
C330006K01Rik |
| MMRRC Submission |
039941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
R1923 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
142449699-142464465 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142458096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 423
(H423R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038699]
[ENSMUST00000196055]
[ENSMUST00000197173]
|
| AlphaFold |
Q3U829 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038699
AA Change: H423R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000041863
Gene: ENSMUSG00000039623
AA Change: H423R
| 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: H423R
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143179
Gene: ENSMUSG00000039623
AA Change: H423R
| 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
|
| Meta Mutation Damage Score |
0.0826 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (52/53) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,743 (GRCm39) |
E163G |
probably damaging |
Het |
| 4921513D11Rik |
A |
G |
17: 79,935,562 (GRCm39) |
|
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,749,459 (GRCm39) |
F195I |
possibly damaging |
Het |
| Acsl6 |
T |
C |
11: 54,216,417 (GRCm39) |
Y135H |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,781,083 (GRCm39) |
A2045E |
probably benign |
Het |
| Arsk |
T |
A |
13: 76,214,985 (GRCm39) |
|
probably benign |
Het |
| Bpi |
G |
A |
2: 158,103,083 (GRCm39) |
G76D |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,739,861 (GRCm39) |
T983A |
probably damaging |
Het |
| Ccdc192 |
A |
T |
18: 57,666,959 (GRCm39) |
D12V |
probably damaging |
Het |
| Chmp2b |
A |
T |
16: 65,342,213 (GRCm39) |
M125K |
possibly damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,511,491 (GRCm39) |
I26L |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,315,337 (GRCm39) |
Y3032C |
probably damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,101,850 (GRCm39) |
D226V |
probably damaging |
Het |
| Enpp6 |
A |
T |
8: 47,535,541 (GRCm39) |
D362V |
probably damaging |
Het |
| Fam53b |
A |
G |
7: 132,317,521 (GRCm39) |
S374P |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,260,066 (GRCm39) |
|
probably benign |
Het |
| Fndc7 |
C |
T |
3: 108,784,003 (GRCm39) |
R202H |
probably benign |
Het |
| Frmd4b |
T |
G |
6: 97,265,415 (GRCm39) |
D951A |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,877,162 (GRCm39) |
Y107H |
probably damaging |
Het |
| Gm11595 |
A |
T |
11: 99,663,365 (GRCm39) |
V105E |
unknown |
Het |
| Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
| Lrriq4 |
C |
A |
3: 30,713,242 (GRCm39) |
Q448K |
probably benign |
Het |
| Ly6g5c |
A |
G |
17: 35,330,863 (GRCm39) |
I128M |
possibly damaging |
Het |
| Mroh9 |
T |
A |
1: 162,903,860 (GRCm39) |
S51C |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,970,828 (GRCm39) |
S2G |
probably benign |
Het |
| Nat8f4 |
A |
G |
6: 85,878,497 (GRCm39) |
Y9H |
probably damaging |
Het |
| Negr1 |
T |
C |
3: 156,267,836 (GRCm39) |
V2A |
probably benign |
Het |
| Or2y1 |
C |
T |
11: 49,386,131 (GRCm39) |
T257I |
probably damaging |
Het |
| Or7g19 |
C |
T |
9: 18,856,781 (GRCm39) |
T279I |
probably benign |
Het |
| Or8k32 |
T |
G |
2: 86,368,857 (GRCm39) |
Y132S |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,895,707 (GRCm39) |
C107Y |
probably damaging |
Het |
| Pdgfra |
C |
A |
5: 75,324,394 (GRCm39) |
T83K |
probably benign |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Retreg1 |
A |
G |
15: 25,969,924 (GRCm39) |
D109G |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,189,613 (GRCm39) |
W674R |
probably damaging |
Het |
| Rgs18 |
T |
C |
1: 144,631,818 (GRCm39) |
D98G |
possibly damaging |
Het |
| Rnf146 |
A |
G |
10: 29,223,715 (GRCm39) |
F57S |
probably damaging |
Het |
| Skic3 |
T |
A |
13: 76,282,889 (GRCm39) |
V737D |
probably damaging |
Het |
| Slc22a20 |
C |
A |
19: 6,021,464 (GRCm39) |
V513L |
probably benign |
Het |
| Stox2 |
G |
T |
8: 47,646,661 (GRCm39) |
F266L |
probably damaging |
Het |
| Tbx21 |
C |
T |
11: 96,990,863 (GRCm39) |
V272M |
probably damaging |
Het |
| Tmc7 |
A |
G |
7: 118,144,850 (GRCm39) |
F570S |
probably benign |
Het |
| Tmem236 |
T |
C |
2: 14,224,117 (GRCm39) |
I302T |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,862,776 (GRCm39) |
L506S |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,218,694 (GRCm39) |
I78V |
probably damaging |
Het |
| Xpo4 |
A |
T |
14: 57,828,328 (GRCm39) |
V844D |
probably damaging |
Het |
| Zfp507 |
C |
T |
7: 35,493,150 (GRCm39) |
R631Q |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTCATGCAGCCCTGGAG -3'
(R):5'- CTGCCTGAGCTGACTCTG -3'
Sequencing Primer
(F):5'- AATCCTCGTGAGTCACTGCAGATG -3'
(R):5'- AGCTGACTCTGGATGCTATGATACAG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation