Incidental Mutation 'R7471:Hace1'
| ID |
579208 |
| 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 |
045545-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
R7471 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
45453925-45588441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 45577075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 823
(I823S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037044
AA Change: I823S
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: I823S
| 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: I213S
| 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 |
|
| Meta Mutation Damage Score |
0.3440 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (73/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,168,608 (GRCm39) |
|
probably null |
Het |
| Ace |
T |
C |
11: 105,864,308 (GRCm39) |
V483A |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Angptl2 |
A |
T |
2: 33,133,751 (GRCm39) |
T358S |
possibly damaging |
Het |
| Apoh |
C |
T |
11: 108,298,131 (GRCm39) |
P144S |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,408,355 (GRCm39) |
W1666R |
unknown |
Het |
| Asap3 |
A |
G |
4: 135,960,957 (GRCm39) |
H223R |
possibly damaging |
Het |
| Bcl2l12 |
A |
G |
7: 44,645,977 (GRCm39) |
S81P |
possibly damaging |
Het |
| Brd10 |
A |
C |
19: 29,707,139 (GRCm39) |
|
probably null |
Het |
| C8a |
A |
G |
4: 104,674,822 (GRCm39) |
S550P |
probably benign |
Het |
| Cacna2d1 |
C |
G |
5: 16,139,973 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
A |
G |
10: 4,470,803 (GRCm39) |
T216A |
probably benign |
Het |
| Chd7 |
A |
T |
4: 8,859,197 (GRCm39) |
K2429I |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,441,569 (GRCm39) |
N2181S |
probably benign |
Het |
| Cimap1c |
C |
T |
9: 56,759,783 (GRCm39) |
|
probably null |
Het |
| Clip3 |
T |
C |
7: 30,001,377 (GRCm39) |
V342A |
possibly damaging |
Het |
| Cst5 |
C |
T |
2: 149,247,496 (GRCm39) |
L71F |
probably benign |
Het |
| Cyp20a1 |
T |
C |
1: 60,393,799 (GRCm39) |
F139S |
probably damaging |
Het |
| Dclre1b |
T |
A |
3: 103,710,430 (GRCm39) |
R494W |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,660,969 (GRCm39) |
I1695T |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,458,858 (GRCm39) |
L3760P |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,765,072 (GRCm39) |
D1688G |
possibly damaging |
Het |
| Drosha |
G |
A |
15: 12,889,742 (GRCm39) |
R870Q |
probably damaging |
Het |
| Dsg2 |
G |
T |
18: 20,713,675 (GRCm39) |
M215I |
probably benign |
Het |
| Dst |
A |
T |
1: 34,233,651 (GRCm39) |
D3453V |
possibly damaging |
Het |
| Epha10 |
A |
T |
4: 124,796,365 (GRCm39) |
Y358F |
|
Het |
| Ermp1 |
A |
T |
19: 29,590,054 (GRCm39) |
M853K |
probably benign |
Het |
| Hectd3 |
A |
T |
4: 116,853,785 (GRCm39) |
Y227F |
probably benign |
Het |
| Hells |
A |
G |
19: 38,945,501 (GRCm39) |
N580S |
probably benign |
Het |
| Igkv12-44 |
A |
G |
6: 69,791,718 (GRCm39) |
F82L |
probably damaging |
Het |
| Inpp5d |
A |
G |
1: 87,623,122 (GRCm39) |
D405G |
probably damaging |
Het |
| Itsn2 |
G |
A |
12: 4,758,198 (GRCm39) |
R1508H |
probably benign |
Het |
| Limk1 |
A |
T |
5: 134,686,825 (GRCm39) |
|
probably null |
Het |
| Lingo1 |
T |
A |
9: 56,528,167 (GRCm39) |
K147* |
probably null |
Het |
| Ltn1 |
T |
C |
16: 87,194,787 (GRCm39) |
S1371G |
probably benign |
Het |
| Mab21l1 |
A |
G |
3: 55,691,307 (GRCm39) |
D298G |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,366,082 (GRCm39) |
V2893E |
probably benign |
Het |
| Mapk8ip1 |
T |
C |
2: 92,219,489 (GRCm39) |
D114G |
probably benign |
Het |
| Med15 |
A |
T |
16: 17,540,729 (GRCm39) |
W6R |
probably benign |
Het |
| Mrps34 |
T |
C |
17: 25,114,431 (GRCm39) |
L97P |
probably damaging |
Het |
| Myrfl |
A |
T |
10: 116,697,417 (GRCm39) |
F36I |
possibly damaging |
Het |
| Nifk |
G |
A |
1: 118,260,204 (GRCm39) |
S253N |
probably damaging |
Het |
| Nmnat1 |
T |
A |
4: 149,557,758 (GRCm39) |
T95S |
probably damaging |
Het |
| Oasl1 |
T |
A |
5: 115,073,985 (GRCm39) |
I298N |
probably damaging |
Het |
| Or51a8 |
A |
G |
7: 102,549,760 (GRCm39) |
Y62C |
probably benign |
Het |
| Or56b35 |
T |
G |
7: 104,963,712 (GRCm39) |
L167R |
probably damaging |
Het |
| Or8g37 |
A |
T |
9: 39,731,423 (GRCm39) |
M163L |
probably benign |
Het |
| Polr2b |
C |
T |
5: 77,468,913 (GRCm39) |
R230* |
probably null |
Het |
| Prkra |
T |
A |
2: 76,477,545 (GRCm39) |
E53D |
probably benign |
Het |
| Rasgrp4 |
T |
A |
7: 28,845,405 (GRCm39) |
L376Q |
probably damaging |
Het |
| Rwdd3 |
A |
G |
3: 120,964,961 (GRCm39) |
S65P |
probably benign |
Het |
| Satb1 |
G |
A |
17: 52,090,029 (GRCm39) |
P273S |
probably damaging |
Het |
| Scg3 |
T |
C |
9: 75,589,374 (GRCm39) |
E93G |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,117,724 (GRCm39) |
F162S |
possibly damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,250,701 (GRCm39) |
Y377H |
probably damaging |
Het |
| Sptbn4 |
G |
A |
7: 27,108,439 (GRCm39) |
A661V |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,673,479 (GRCm39) |
N996S |
unknown |
Het |
| Tbca |
A |
T |
13: 94,968,923 (GRCm39) |
I37F |
probably damaging |
Het |
| Tc2n |
A |
T |
12: 101,672,716 (GRCm39) |
V75E |
probably damaging |
Het |
| Tdrkh |
A |
T |
3: 94,333,263 (GRCm39) |
S243C |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,964,438 (GRCm39) |
D911G |
probably damaging |
Het |
| Tmbim6 |
A |
G |
15: 99,299,324 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
T |
A |
11: 94,104,708 (GRCm39) |
D81E |
probably benign |
Het |
| Ttpal |
T |
A |
2: 163,448,945 (GRCm39) |
|
probably null |
Het |
| Usp37 |
A |
T |
1: 74,534,787 (GRCm39) |
|
probably null |
Het |
| Vmn1r235 |
A |
G |
17: 21,482,658 (GRCm39) |
I328V |
probably benign |
Het |
| Vmn1r28 |
T |
A |
6: 58,242,850 (GRCm39) |
L231* |
probably null |
Het |
| Xirp1 |
G |
A |
9: 119,848,176 (GRCm39) |
Q236* |
probably null |
Het |
| Zc3h7b |
A |
G |
15: 81,664,682 (GRCm39) |
T514A |
probably damaging |
Het |
| Zfp524 |
A |
G |
7: 5,021,200 (GRCm39) |
I243V |
probably benign |
Het |
| Zfp655 |
T |
A |
5: 145,181,542 (GRCm39) |
Y467N |
possibly damaging |
Het |
| Zfp985 |
A |
T |
4: 147,667,388 (GRCm39) |
K85N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGATATTGCATATGAAAGCC -3'
(R):5'- GAGTGGCTTTACTGTTAAACCAAAC -3'
Sequencing Primer
(F):5'- GGGATATTGCATATGAAAGCCTTTTG -3'
(R):5'- GACAGAACAATGACTCTTCAT -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation