Incidental Mutation 'R7995:Hace1'
| ID |
616040 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7995 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
45453925-45588441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45465588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 48
(E48G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
[ENSMUST00000131568]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037044
AA Change: E48G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: E48G
| 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 |
possibly damaging
Transcript: ENSMUST00000131568
AA Change: E26G
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121196
Gene: ENSMUSG00000038822
AA Change: E26G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
4 |
37 |
2e-15 |
BLAST |
|
ANK
|
42 |
71 |
3.23e-4 |
SMART |
|
ANK
|
75 |
104 |
7.76e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,350,528 (GRCm39) |
T137S |
unknown |
Het |
| Apbb1 |
T |
C |
7: 105,214,852 (GRCm39) |
D462G |
probably benign |
Het |
| Arhgef1 |
T |
G |
7: 24,618,641 (GRCm39) |
L387R |
probably damaging |
Het |
| Ass1 |
A |
G |
2: 31,376,552 (GRCm39) |
I139V |
probably benign |
Het |
| B4galt5 |
A |
G |
2: 167,143,296 (GRCm39) |
V376A |
probably damaging |
Het |
| Bdkrb1 |
A |
G |
12: 105,571,379 (GRCm39) |
N315S |
probably damaging |
Het |
| Brap |
A |
T |
5: 121,820,909 (GRCm39) |
I429L |
probably benign |
Het |
| Capn2 |
A |
G |
1: 182,306,111 (GRCm39) |
|
probably null |
Het |
| Car10 |
A |
G |
11: 93,487,948 (GRCm39) |
Y215C |
probably damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,634,495 (GRCm39) |
T365A |
probably damaging |
Het |
| Cdc42ep1 |
A |
G |
15: 78,731,696 (GRCm39) |
H47R |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,722,282 (GRCm39) |
S2734N |
probably damaging |
Het |
| Cers5 |
A |
C |
15: 99,638,823 (GRCm39) |
|
probably null |
Het |
| Cfap43 |
T |
C |
19: 47,886,462 (GRCm39) |
E51G |
probably damaging |
Het |
| Cftr |
T |
A |
6: 18,214,155 (GRCm39) |
D110E |
probably damaging |
Het |
| Cimap2 |
T |
A |
4: 106,473,112 (GRCm39) |
H57L |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,499,277 (GRCm39) |
K1176E |
probably damaging |
Het |
| Dlx6 |
A |
T |
6: 6,867,277 (GRCm39) |
R293S |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,411,563 (GRCm39) |
F353Y |
possibly damaging |
Het |
| Dnajc13 |
A |
T |
9: 104,051,562 (GRCm39) |
I1765N |
probably damaging |
Het |
| Ercc6 |
G |
T |
14: 32,284,526 (GRCm39) |
R763L |
probably damaging |
Het |
| Furin |
T |
C |
7: 80,045,195 (GRCm39) |
N243S |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,972,743 (GRCm39) |
T380I |
probably damaging |
Het |
| Klk4 |
T |
A |
7: 43,533,010 (GRCm39) |
I32N |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,709,425 (GRCm39) |
E185G |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,526,858 (GRCm39) |
W2239R |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,980,975 (GRCm39) |
D316E |
probably benign |
Het |
| Mlh1 |
G |
T |
9: 111,064,989 (GRCm39) |
N555K |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,950,839 (GRCm39) |
W579* |
probably null |
Het |
| Mycs |
G |
A |
X: 5,380,858 (GRCm39) |
P74L |
probably damaging |
Het |
| Or5p62 |
A |
T |
7: 107,771,207 (GRCm39) |
L248H |
probably damaging |
Het |
| Or6c1 |
T |
C |
10: 129,518,509 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pak2 |
T |
C |
16: 31,846,590 (GRCm39) |
I365V |
possibly damaging |
Het |
| Pcdhga11 |
C |
A |
18: 37,890,078 (GRCm39) |
S362* |
probably null |
Het |
| Pdk4 |
C |
T |
6: 5,487,093 (GRCm39) |
V318M |
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,603,401 (GRCm39) |
T177M |
probably damaging |
Het |
| Phldb1 |
A |
T |
9: 44,626,669 (GRCm39) |
L592Q |
probably damaging |
Het |
| Pigr |
A |
G |
1: 130,769,423 (GRCm39) |
Y78C |
probably damaging |
Het |
| Pnkp |
T |
A |
7: 44,507,960 (GRCm39) |
Y94* |
probably null |
Het |
| Polr2b |
T |
C |
5: 77,473,614 (GRCm39) |
V310A |
possibly damaging |
Het |
| Pramel21 |
A |
G |
4: 143,342,570 (GRCm39) |
I226V |
possibly damaging |
Het |
| Prl7d1 |
T |
A |
13: 27,894,054 (GRCm39) |
I171L |
probably benign |
Het |
| Rpusd4 |
A |
G |
9: 35,184,017 (GRCm39) |
Y224C |
probably damaging |
Het |
| Scara5 |
C |
A |
14: 65,997,057 (GRCm39) |
R390S |
possibly damaging |
Het |
| Scin |
C |
T |
12: 40,129,804 (GRCm39) |
V330I |
probably benign |
Het |
| Sdr42e1 |
T |
A |
8: 118,390,007 (GRCm39) |
R211S |
probably benign |
Het |
| Slc36a3 |
C |
A |
11: 55,020,495 (GRCm39) |
A292S |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,848,924 (GRCm39) |
D1068G |
probably benign |
Het |
| Srd5a1 |
T |
A |
13: 69,759,338 (GRCm39) |
D10V |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,469,823 (GRCm39) |
C4507F |
probably damaging |
Het |
| Tmem94 |
G |
A |
11: 115,688,797 (GRCm39) |
E1335K |
probably damaging |
Het |
| Tnfrsf13b |
C |
T |
11: 61,031,742 (GRCm39) |
Q28* |
probably null |
Het |
| Tspan3 |
A |
T |
9: 56,054,438 (GRCm39) |
F88I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,592,519 (GRCm39) |
K20871R |
probably benign |
Het |
| Ube2j2 |
C |
A |
4: 156,041,795 (GRCm39) |
Y263* |
probably null |
Het |
| Vcan |
T |
C |
13: 89,839,977 (GRCm39) |
T1856A |
probably benign |
Het |
| Vrk3 |
T |
C |
7: 44,413,585 (GRCm39) |
L218P |
probably damaging |
Het |
| Zfp236 |
G |
T |
18: 82,657,461 (GRCm39) |
H761N |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,011,907 (GRCm39) |
A1291E |
probably damaging |
Het |
| Zfp827 |
T |
A |
8: 79,844,887 (GRCm39) |
S686T |
possibly 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 |
|
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTGGCTGCTACCCCAAG -3'
(R):5'- CATTAAGGGCTAAACAGGACAC -3'
Sequencing Primer
(F):5'- ACCCTCTTTGCTGATTTTTGAACAG -3'
(R):5'- ACAGGACACGGCAGCCTTAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation