Incidental Mutation 'IGL02619:Hace1'
| ID |
300803 |
| 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 # |
IGL02619
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
45453925-45588441 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 45547530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037044
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
| 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 |
probably benign
Transcript: ENSMUST00000131406
|
| SMART Domains |
Protein: ENSMUSP00000118554
Gene: ENSMUSG00000038822
| Domain | Start | End | E-Value | Type |
|---|
|
HECTc
|
7 |
300 |
2.63e-96 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150511
|
| SMART Domains |
Protein: ENSMUSP00000117985
Gene: ENSMUSG00000038822
| Domain | Start | End | E-Value | Type |
|---|
|
HECTc
|
55 |
329 |
1.76e-74 |
SMART |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
C |
T |
1: 179,620,016 (GRCm39) |
G220E |
possibly damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,321,504 (GRCm39) |
I101T |
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Camkk2 |
A |
T |
5: 122,902,298 (GRCm39) |
C4S |
probably damaging |
Het |
| Ccdc174 |
T |
A |
6: 91,876,538 (GRCm39) |
D458E |
possibly damaging |
Het |
| Cercam |
A |
G |
2: 29,770,686 (GRCm39) |
N419S |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,512,083 (GRCm39) |
N551S |
probably damaging |
Het |
| Cldn18 |
T |
A |
9: 99,580,988 (GRCm39) |
I87F |
probably damaging |
Het |
| Ctso |
T |
A |
3: 81,848,836 (GRCm39) |
|
probably benign |
Het |
| Ddhd2 |
C |
A |
8: 26,236,981 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
T |
A |
9: 45,359,094 (GRCm39) |
Y118N |
probably damaging |
Het |
| Ece1 |
C |
T |
4: 137,666,044 (GRCm39) |
A296V |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,790,766 (GRCm39) |
I115F |
possibly damaging |
Het |
| Fkbp9 |
T |
A |
6: 56,827,609 (GRCm39) |
N143K |
probably damaging |
Het |
| Foxk2 |
G |
T |
11: 121,190,402 (GRCm39) |
|
probably benign |
Het |
| Ggnbp1 |
A |
G |
17: 27,248,529 (GRCm39) |
K33E |
probably benign |
Het |
| Hk3 |
A |
T |
13: 55,162,107 (GRCm39) |
C133S |
probably damaging |
Het |
| Kbtbd3 |
C |
T |
9: 4,331,252 (GRCm39) |
A542V |
probably damaging |
Het |
| Lrch2 |
A |
C |
X: 146,263,537 (GRCm39) |
V363G |
probably damaging |
Het |
| Lrch2 |
C |
T |
X: 146,302,131 (GRCm39) |
C264Y |
probably damaging |
Het |
| Lrrc56 |
C |
A |
7: 140,787,546 (GRCm39) |
|
probably benign |
Het |
| Lrtm2 |
C |
T |
6: 119,294,199 (GRCm39) |
V311M |
probably damaging |
Het |
| N4bp1 |
G |
T |
8: 87,587,529 (GRCm39) |
Q470K |
probably benign |
Het |
| Naa15 |
A |
C |
3: 51,367,552 (GRCm39) |
D575A |
probably benign |
Het |
| Ncaph |
A |
T |
2: 126,969,456 (GRCm39) |
V69D |
probably damaging |
Het |
| Nlrp5 |
G |
A |
7: 23,123,489 (GRCm39) |
|
probably null |
Het |
| Nmbr |
A |
G |
10: 14,636,331 (GRCm39) |
D100G |
probably damaging |
Het |
| Ofcc1 |
C |
T |
13: 40,250,553 (GRCm39) |
V588M |
possibly damaging |
Het |
| Or4b13 |
G |
T |
2: 90,082,849 (GRCm39) |
T161N |
probably damaging |
Het |
| Or5p4 |
C |
A |
7: 107,680,949 (GRCm39) |
|
probably benign |
Het |
| Osmr |
C |
A |
15: 6,871,475 (GRCm39) |
R314M |
probably damaging |
Het |
| Pcdhb16 |
C |
T |
18: 37,611,270 (GRCm39) |
Q77* |
probably null |
Het |
| Pglyrp4 |
G |
A |
3: 90,642,955 (GRCm39) |
|
probably null |
Het |
| Ptprh |
A |
G |
7: 4,552,498 (GRCm39) |
F922S |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,418,673 (GRCm39) |
Q813L |
possibly damaging |
Het |
| Sgtb |
A |
G |
13: 104,254,922 (GRCm39) |
N64S |
probably benign |
Het |
| Slc5a12 |
T |
C |
2: 110,471,201 (GRCm39) |
V481A |
probably benign |
Het |
| Slitrk1 |
A |
G |
14: 109,149,349 (GRCm39) |
V454A |
probably benign |
Het |
| Sntg2 |
C |
A |
12: 30,317,025 (GRCm39) |
|
probably null |
Het |
| Synj1 |
C |
T |
16: 90,770,933 (GRCm39) |
V499I |
probably damaging |
Het |
| Tmco1 |
T |
C |
1: 167,153,597 (GRCm39) |
|
probably benign |
Het |
| Tmem38b |
T |
C |
4: 53,848,871 (GRCm39) |
I92T |
probably damaging |
Het |
| Tmem9 |
T |
C |
1: 135,955,145 (GRCm39) |
V93A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,625,582 (GRCm39) |
R15080S |
possibly damaging |
Het |
| Ube2e3 |
T |
C |
2: 78,749,065 (GRCm39) |
I138T |
probably damaging |
Het |
| Urgcp |
A |
G |
11: 5,665,752 (GRCm39) |
I862T |
possibly damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,603 (GRCm39) |
I165N |
probably benign |
Het |
| Washc4 |
G |
A |
10: 83,394,717 (GRCm39) |
V316I |
possibly damaging |
Het |
| Zfp111 |
A |
T |
7: 23,899,113 (GRCm39) |
L166Q |
possibly damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,597,718 (GRCm39) |
|
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,508,793 (GRCm39) |
|
probably benign |
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 |
|
|
IGL02122:Hace1
|
APN |
10 |
45,494,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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