Incidental Mutation 'IGL02122:Hace1'
| ID |
280681 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hace1
|
| Ensembl Gene |
ENSMUSG00000038822 |
| Gene Name |
HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 |
| Synonyms |
A730034A22Rik, 1700042J16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
IGL02122
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
45453925-45588441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45494700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 170
(V170A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037044
AA Change: V170A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: V170A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
64 |
93 |
3.23e-4 |
SMART |
|
ANK
|
97 |
126 |
7.76e-7 |
SMART |
|
ANK
|
130 |
159 |
8.26e-2 |
SMART |
|
ANK
|
163 |
192 |
1.94e-7 |
SMART |
|
ANK
|
196 |
227 |
1.65e-1 |
SMART |
|
ANK
|
228 |
257 |
5.98e1 |
SMART |
|
Blast:HECTc
|
372 |
522 |
7e-87 |
BLAST |
|
HECTc
|
572 |
909 |
1.76e-138 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142956
|
| 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 encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit increased spontaneous and induced tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
T |
12: 71,217,299 (GRCm39) |
T756I |
possibly damaging |
Het |
| Abi3bp |
T |
C |
16: 56,507,491 (GRCm39) |
|
probably benign |
Het |
| Adcy5 |
G |
A |
16: 35,103,982 (GRCm39) |
|
probably benign |
Het |
| Adcy6 |
T |
A |
15: 98,496,763 (GRCm39) |
H504L |
possibly damaging |
Het |
| Ank2 |
A |
G |
3: 126,731,523 (GRCm39) |
|
probably benign |
Het |
| Atxn2 |
A |
G |
5: 121,916,093 (GRCm39) |
D34G |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,220,541 (GRCm39) |
E657G |
possibly damaging |
Het |
| Cdc25c |
T |
C |
18: 34,877,038 (GRCm39) |
I212V |
probably benign |
Het |
| Chl1 |
A |
G |
6: 103,652,098 (GRCm39) |
D338G |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,905,763 (GRCm39) |
I361V |
probably benign |
Het |
| Dip2c |
T |
C |
13: 9,556,695 (GRCm39) |
S80P |
possibly damaging |
Het |
| Dmrtc2 |
A |
T |
7: 24,572,008 (GRCm39) |
R34S |
possibly damaging |
Het |
| Exph5 |
A |
G |
9: 53,284,974 (GRCm39) |
N685S |
probably benign |
Het |
| Flnc |
A |
T |
6: 29,444,335 (GRCm39) |
I684L |
possibly damaging |
Het |
| Foxk1 |
T |
A |
5: 142,437,184 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
T |
C |
10: 51,502,819 (GRCm39) |
N348S |
probably benign |
Het |
| Gspt1 |
T |
C |
16: 11,047,080 (GRCm39) |
K445R |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,221,047 (GRCm39) |
I1481T |
possibly damaging |
Het |
| Ighv4-1 |
A |
T |
12: 113,912,145 (GRCm39) |
L36Q |
possibly damaging |
Het |
| Ints1 |
G |
A |
5: 139,750,905 (GRCm39) |
Q833* |
probably null |
Het |
| Myo15a |
T |
C |
11: 60,374,292 (GRCm39) |
F96L |
probably benign |
Het |
| Myom1 |
G |
T |
17: 71,399,132 (GRCm39) |
R998L |
probably damaging |
Het |
| Nacc2 |
A |
G |
2: 25,979,960 (GRCm39) |
S159P |
probably benign |
Het |
| Or5k15 |
T |
C |
16: 58,710,134 (GRCm39) |
T150A |
probably benign |
Het |
| Or5w10 |
A |
G |
2: 87,375,447 (GRCm39) |
V147A |
probably benign |
Het |
| Or7e177 |
T |
A |
9: 20,211,880 (GRCm39) |
L128Q |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,811,573 (GRCm39) |
I1197V |
probably damaging |
Het |
| Pde4dip |
G |
A |
3: 97,674,737 (GRCm39) |
R60C |
probably damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,157,796 (GRCm39) |
Y499H |
probably damaging |
Het |
| Plekhn1 |
C |
T |
4: 156,308,313 (GRCm39) |
|
probably null |
Het |
| Prmt8 |
A |
G |
6: 127,667,680 (GRCm39) |
Y332H |
probably benign |
Het |
| Prpf38a |
A |
G |
4: 108,436,238 (GRCm39) |
I25T |
possibly damaging |
Het |
| Rpf1 |
T |
C |
3: 146,227,022 (GRCm39) |
K44E |
probably benign |
Het |
| Rusc2 |
T |
C |
4: 43,421,685 (GRCm39) |
F702L |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,756,755 (GRCm39) |
I1633K |
probably damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Tkt |
T |
C |
14: 30,293,158 (GRCm39) |
V510A |
possibly damaging |
Het |
| Tmem106a |
C |
A |
11: 101,481,240 (GRCm39) |
N249K |
probably damaging |
Het |
| Tmpo |
A |
T |
10: 90,999,998 (GRCm39) |
S157T |
possibly damaging |
Het |
| Tspan32 |
A |
T |
7: 142,569,372 (GRCm39) |
I144F |
probably damaging |
Het |
| Ufsp2 |
G |
A |
8: 46,448,685 (GRCm39) |
V429I |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,641,679 (GRCm39) |
|
probably benign |
Het |
| Usp47 |
A |
T |
7: 111,706,115 (GRCm39) |
K1259M |
probably damaging |
Het |
| Zdhhc18 |
A |
T |
4: 133,340,946 (GRCm39) |
|
probably benign |
Het |
| Zfp507 |
G |
T |
7: 35,475,520 (GRCm39) |
L898I |
probably damaging |
Het |
|
| Other mutations in Hace1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00847:Hace1
|
APN |
10 |
45,548,453 (GRCm39) |
nonsense |
probably null |
|
|
IGL01456:Hace1
|
APN |
10 |
45,586,094 (GRCm39) |
splice site |
probably benign |
|
|
IGL02217:Hace1
|
APN |
10 |
45,466,471 (GRCm39) |
splice site |
probably null |
|
|
IGL02493:Hace1
|
APN |
10 |
45,464,515 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02596:Hace1
|
APN |
10 |
45,576,736 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02619:Hace1
|
APN |
10 |
45,547,530 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03163:Hace1
|
APN |
10 |
45,548,701 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0609:Hace1
|
UTSW |
10 |
45,524,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0853:Hace1
|
UTSW |
10 |
45,524,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2038:Hace1
|
UTSW |
10 |
45,576,721 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2212:Hace1
|
UTSW |
10 |
45,524,771 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2328:Hace1
|
UTSW |
10 |
45,525,041 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2881:Hace1
|
UTSW |
10 |
45,547,230 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3005:Hace1
|
UTSW |
10 |
45,524,959 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3414:Hace1
|
UTSW |
10 |
45,524,771 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3930:Hace1
|
UTSW |
10 |
45,587,604 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4014:Hace1
|
UTSW |
10 |
45,464,470 (GRCm39) |
splice site |
probably benign |
|
|
R4335:Hace1
|
UTSW |
10 |
45,586,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4547:Hace1
|
UTSW |
10 |
45,548,651 (GRCm39) |
splice site |
probably null |
|
|
R4812:Hace1
|
UTSW |
10 |
45,562,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4996:Hace1
|
UTSW |
10 |
45,526,046 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5858:Hace1
|
UTSW |
10 |
45,587,621 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5995:Hace1
|
UTSW |
10 |
45,546,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6049:Hace1
|
UTSW |
10 |
45,562,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6111:Hace1
|
UTSW |
10 |
45,465,606 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6195:Hace1
|
UTSW |
10 |
45,546,539 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6216:Hace1
|
UTSW |
10 |
45,494,643 (GRCm39) |
missense |
probably benign |
|
|
R6233:Hace1
|
UTSW |
10 |
45,546,539 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6237:Hace1
|
UTSW |
10 |
45,524,986 (GRCm39) |
missense |
probably benign |
|
|
R6467:Hace1
|
UTSW |
10 |
45,466,362 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6930:Hace1
|
UTSW |
10 |
45,494,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Hace1
|
UTSW |
10 |
45,465,603 (GRCm39) |
nonsense |
probably null |
|
|
R7401:Hace1
|
UTSW |
10 |
45,546,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7426:Hace1
|
UTSW |
10 |
45,481,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7471:Hace1
|
UTSW |
10 |
45,577,075 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7533:Hace1
|
UTSW |
10 |
45,587,570 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7661:Hace1
|
UTSW |
10 |
45,481,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7873:Hace1
|
UTSW |
10 |
45,548,883 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7938:Hace1
|
UTSW |
10 |
45,562,792 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7995:Hace1
|
UTSW |
10 |
45,465,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8017:Hace1
|
UTSW |
10 |
45,514,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8019:Hace1
|
UTSW |
10 |
45,514,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Hace1
|
UTSW |
10 |
45,577,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8292:Hace1
|
UTSW |
10 |
45,587,557 (GRCm39) |
nonsense |
probably null |
|
|
R8717:Hace1
|
UTSW |
10 |
45,481,694 (GRCm39) |
missense |
unknown |
|
|
R8757:Hace1
|
UTSW |
10 |
45,546,539 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8814:Hace1
|
UTSW |
10 |
45,528,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8823:Hace1
|
UTSW |
10 |
45,524,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8898:Hace1
|
UTSW |
10 |
45,576,766 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9143:Hace1
|
UTSW |
10 |
45,562,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9297:Hace1
|
UTSW |
10 |
45,528,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9318:Hace1
|
UTSW |
10 |
45,528,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9365:Hace1
|
UTSW |
10 |
45,586,092 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9492:Hace1
|
UTSW |
10 |
45,547,230 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9644:Hace1
|
UTSW |
10 |
45,526,001 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9656:Hace1
|
UTSW |
10 |
45,547,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9762:Hace1
|
UTSW |
10 |
45,525,014 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Hace1
|
UTSW |
10 |
45,562,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation