Incidental Mutation 'R7533:Hace1'
| ID |
583419 |
| 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 |
| MMRRC Submission |
045605-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
R7533 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
45453925-45588441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45587570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 890
(I890L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037044
AA Change: I890L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: I890L
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000118554
Gene: ENSMUSG00000038822
AA Change: I280L
| Domain | Start | End | E-Value | Type |
|---|
|
HECTc
|
7 |
300 |
2.63e-96 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000117985
Gene: ENSMUSG00000038822
AA Change: I309L
| Domain | Start | End | E-Value | Type |
|---|
|
HECTc
|
55 |
329 |
1.76e-74 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (36/36) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agr2 |
T |
C |
12: 36,046,128 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
A |
T |
18: 65,437,674 (GRCm39) |
S1240T |
probably damaging |
Het |
| Atp8b2 |
G |
A |
3: 89,852,831 (GRCm39) |
L144F |
|
Het |
| Cck |
T |
C |
9: 121,319,201 (GRCm39) |
D94G |
probably damaging |
Het |
| Ccser1 |
A |
T |
6: 61,615,474 (GRCm39) |
T659S |
probably benign |
Het |
| Cfap74 |
C |
A |
4: 155,500,200 (GRCm39) |
D15E |
|
Het |
| Commd5 |
G |
A |
15: 76,784,776 (GRCm39) |
A58T |
probably benign |
Het |
| Dctn2 |
A |
G |
10: 127,103,347 (GRCm39) |
D34G |
possibly damaging |
Het |
| Ecpas |
T |
C |
4: 58,809,411 (GRCm39) |
I1654M |
probably benign |
Het |
| Epha6 |
T |
C |
16: 60,025,925 (GRCm39) |
T506A |
probably damaging |
Het |
| Fat4 |
A |
C |
3: 39,061,406 (GRCm39) |
I4330L |
probably benign |
Het |
| Fcho2 |
G |
T |
13: 98,921,307 (GRCm39) |
Q193K |
probably benign |
Het |
| Igsf11 |
T |
G |
16: 38,829,236 (GRCm39) |
N102K |
probably benign |
Het |
| Il7r |
G |
A |
15: 9,508,047 (GRCm39) |
S425L |
probably benign |
Het |
| Itga3 |
G |
T |
11: 94,937,344 (GRCm39) |
Q1011K |
probably benign |
Het |
| Kif3c |
T |
A |
12: 3,416,510 (GRCm39) |
I177N |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,114,578 (GRCm39) |
A1048V |
|
Het |
| Neu4 |
C |
T |
1: 93,950,122 (GRCm39) |
T27M |
probably benign |
Het |
| Or52b3 |
T |
C |
7: 102,203,718 (GRCm39) |
S76P |
probably damaging |
Het |
| P4htm |
T |
C |
9: 108,474,136 (GRCm39) |
H134R |
probably benign |
Het |
| Padi6 |
T |
C |
4: 140,458,506 (GRCm39) |
D462G |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,115,525 (GRCm39) |
D1375G |
|
Het |
| Ptgr1 |
C |
T |
4: 58,971,011 (GRCm39) |
R247H |
possibly damaging |
Het |
| Rad50 |
T |
C |
11: 53,589,746 (GRCm39) |
N152D |
probably damaging |
Het |
| Serpina1c |
T |
A |
12: 103,863,566 (GRCm39) |
K211N |
probably damaging |
Het |
| Sgsh |
T |
C |
11: 119,238,696 (GRCm39) |
E256G |
probably damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,811,942 (GRCm39) |
|
probably null |
Het |
| Ube3d |
A |
G |
9: 86,304,990 (GRCm39) |
F284S |
probably damaging |
Het |
| Usp13 |
A |
G |
3: 32,973,091 (GRCm39) |
D757G |
probably damaging |
Het |
| Vmn1r173 |
C |
T |
7: 23,402,071 (GRCm39) |
A102V |
probably benign |
Het |
| Vmn2r29 |
G |
T |
7: 7,244,656 (GRCm39) |
A406D |
probably damaging |
Het |
| Wdfy3 |
G |
A |
5: 102,030,354 (GRCm39) |
R2385C |
probably benign |
Het |
| Zfp112 |
A |
T |
7: 23,824,752 (GRCm39) |
K244M |
possibly damaging |
Het |
| Zfp61 |
T |
C |
7: 23,990,504 (GRCm39) |
Q549R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCATTTGCATTCTGGGAGGAG -3'
(R):5'- TTAAGCAGGCACTCTCTGC -3'
Sequencing Primer
(F):5'- GAGGAGCTGCAGTTCTTCTTAAAC -3'
(R):5'- ACTCTCTGCCTGTGGGTCG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation