Incidental Mutation 'R7873:Hace1'
| ID |
608261 |
| 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 |
045925-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.545)
|
| Stock # |
R7873 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
45453925-45588441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45548883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 597
(V597A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037044
AA Change: V597A
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: V597A
| 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
AA Change: V31A
PolyPhen 2
Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118554
Gene: ENSMUSG00000038822
AA Change: V31A
| Domain | Start | End | E-Value | Type |
|---|
|
HECTc
|
7 |
300 |
2.63e-96 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150511
AA Change: V79A
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117985
Gene: ENSMUSG00000038822
AA Change: V79A
| Domain | Start | End | E-Value | Type |
|---|
|
HECTc
|
55 |
329 |
1.76e-74 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,684,091 (GRCm39) |
I229F |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,888,792 (GRCm39) |
L1246S |
probably benign |
Het |
| Abtb3 |
T |
C |
10: 85,466,989 (GRCm39) |
V685A |
possibly damaging |
Het |
| Acacb |
A |
C |
5: 114,361,339 (GRCm39) |
S1340R |
possibly damaging |
Het |
| Ankrd6 |
A |
T |
4: 32,806,499 (GRCm39) |
S585T |
possibly damaging |
Het |
| Ark2c |
T |
C |
18: 77,554,449 (GRCm39) |
D248G |
possibly damaging |
Het |
| Ccdc54 |
A |
G |
16: 50,410,672 (GRCm39) |
V198A |
probably benign |
Het |
| Cnga4 |
A |
G |
7: 105,056,249 (GRCm39) |
I387V |
probably damaging |
Het |
| Creg1 |
G |
T |
1: 165,597,448 (GRCm39) |
D141Y |
probably damaging |
Het |
| Cxcr2 |
T |
C |
1: 74,198,166 (GRCm39) |
L220P |
probably benign |
Het |
| Dennd5a |
T |
A |
7: 109,526,141 (GRCm39) |
I344F |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,060,747 (GRCm39) |
N448S |
probably benign |
Het |
| Efcab6 |
A |
G |
15: 83,902,826 (GRCm39) |
|
probably null |
Het |
| Elf2 |
C |
A |
3: 51,164,099 (GRCm39) |
V489F |
probably damaging |
Het |
| Elmod2 |
G |
T |
8: 84,057,848 (GRCm39) |
H12N |
probably benign |
Het |
| Eln |
C |
T |
5: 134,740,041 (GRCm39) |
G618E |
unknown |
Het |
| Fbxo33 |
G |
T |
12: 59,265,807 (GRCm39) |
S153R |
possibly damaging |
Het |
| Fbxw7 |
A |
T |
3: 84,833,071 (GRCm39) |
I38F |
possibly damaging |
Het |
| Flnc |
G |
A |
6: 29,456,990 (GRCm39) |
V2329I |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,779,856 (GRCm39) |
R201C |
probably damaging |
Het |
| Gpr155 |
T |
C |
2: 73,173,934 (GRCm39) |
E825G |
possibly damaging |
Het |
| Grk3 |
A |
T |
5: 113,077,552 (GRCm39) |
M405K |
probably benign |
Het |
| H2bc7 |
A |
T |
13: 23,758,244 (GRCm39) |
Y41N |
probably damaging |
Het |
| Ido1 |
A |
G |
8: 25,074,758 (GRCm39) |
F295S |
probably damaging |
Het |
| Ighe |
T |
A |
12: 113,234,942 (GRCm39) |
E406V |
|
Het |
| Ighv1-31 |
G |
T |
12: 114,793,274 (GRCm39) |
A15E |
probably benign |
Het |
| Ighv1-75 |
A |
T |
12: 115,797,988 (GRCm39) |
L10H |
probably damaging |
Het |
| Inpp5e |
T |
A |
2: 26,297,957 (GRCm39) |
K215* |
probably null |
Het |
| Iqcn |
A |
G |
8: 71,163,989 (GRCm39) |
M1061V |
probably benign |
Het |
| Krt18 |
C |
T |
15: 101,939,391 (GRCm39) |
T288I |
probably benign |
Het |
| Lrwd1 |
A |
T |
5: 136,152,792 (GRCm39) |
I490N |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,398,344 (GRCm39) |
|
probably null |
Het |
| Mapk8ip3 |
A |
G |
17: 25,125,146 (GRCm39) |
V482A |
probably benign |
Het |
| Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
| Mdk |
A |
G |
2: 91,761,773 (GRCm39) |
F7S |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,393,582 (GRCm39) |
P2993L |
probably damaging |
Het |
| Niban3 |
A |
T |
8: 72,054,892 (GRCm39) |
I193F |
probably damaging |
Het |
| Nme4 |
A |
T |
17: 26,312,862 (GRCm39) |
Y99N |
probably damaging |
Het |
| Nr1d2 |
G |
A |
14: 18,216,656 (GRCm38) |
R171* |
probably null |
Het |
| Or10h28 |
A |
G |
17: 33,488,348 (GRCm39) |
I217V |
probably benign |
Het |
| Osgep |
G |
T |
14: 51,153,347 (GRCm39) |
T326K |
probably damaging |
Het |
| Pdgfd |
C |
T |
9: 6,337,271 (GRCm39) |
T201M |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,487,086 (GRCm39) |
D320G |
probably benign |
Het |
| Pelp1 |
A |
T |
11: 70,285,552 (GRCm39) |
V772D |
probably damaging |
Het |
| Pkdrej |
T |
A |
15: 85,700,724 (GRCm39) |
R1737S |
probably benign |
Het |
| Ppp1r13b |
A |
T |
12: 111,801,320 (GRCm39) |
Y578N |
probably damaging |
Het |
| Ppp1r3b |
A |
C |
8: 35,851,329 (GRCm39) |
K56T |
probably benign |
Het |
| Prdm11 |
G |
T |
2: 92,819,628 (GRCm39) |
H261N |
probably benign |
Het |
| Preb |
T |
A |
5: 31,116,109 (GRCm39) |
N166I |
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,335,634 (GRCm39) |
K681R |
possibly damaging |
Het |
| Ptgs1 |
G |
A |
2: 36,141,292 (GRCm39) |
V580I |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,407,737 (GRCm39) |
S949T |
probably benign |
Het |
| Pum2 |
A |
G |
12: 8,798,802 (GRCm39) |
E973G |
possibly damaging |
Het |
| Rdh1 |
A |
G |
10: 127,595,892 (GRCm39) |
D29G |
probably benign |
Het |
| Rel |
A |
G |
11: 23,692,957 (GRCm39) |
S359P |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,560,773 (GRCm39) |
H2996L |
probably benign |
Het |
| Scarb1 |
C |
T |
5: 125,371,103 (GRCm39) |
C323Y |
probably damaging |
Het |
| Scn5a |
C |
T |
9: 119,327,193 (GRCm39) |
R1309H |
probably damaging |
Het |
| Serpinb12 |
T |
A |
1: 106,881,469 (GRCm39) |
V202E |
probably damaging |
Het |
| Shh |
A |
G |
5: 28,663,298 (GRCm39) |
L290P |
possibly damaging |
Het |
| Six4 |
CT |
C |
12: 73,151,013 (GRCm39) |
|
probably benign |
Het |
| Slc34a2 |
G |
A |
5: 53,215,714 (GRCm39) |
G42R |
probably benign |
Het |
| Slc41a1 |
A |
G |
1: 131,758,561 (GRCm39) |
N68D |
possibly damaging |
Het |
| Slc7a6os |
A |
G |
8: 106,937,356 (GRCm39) |
S64P |
probably damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,673,448 (GRCm39) |
L363F |
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,994,851 (GRCm39) |
|
probably null |
Het |
| Snx9 |
T |
C |
17: 5,968,751 (GRCm39) |
V349A |
possibly damaging |
Het |
| Sstr1 |
G |
T |
12: 58,260,313 (GRCm39) |
G312V |
probably damaging |
Het |
| Tnfsf10 |
A |
G |
3: 27,389,808 (GRCm39) |
I290V |
probably benign |
Het |
| Trio |
A |
G |
15: 27,805,770 (GRCm39) |
C1717R |
possibly damaging |
Het |
| Ttbk1 |
T |
G |
17: 46,757,494 (GRCm39) |
S1047R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,746,877 (GRCm39) |
D4724G |
probably benign |
Het |
| Uba1y |
T |
A |
Y: 825,542 (GRCm39) |
N301K |
probably benign |
Het |
| Unc5c |
A |
G |
3: 141,533,310 (GRCm39) |
T853A |
probably benign |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,074 (GRCm39) |
I405L |
probably benign |
Het |
| Wdr37 |
A |
T |
13: 8,855,969 (GRCm39) |
M458K |
probably damaging |
Het |
| Zdhhc14 |
A |
T |
17: 5,762,729 (GRCm39) |
Y211F |
probably benign |
Het |
| Zfp108 |
G |
A |
7: 23,960,758 (GRCm39) |
V450I |
probably benign |
Het |
| Zfp212 |
A |
T |
6: 47,907,860 (GRCm39) |
R280* |
probably null |
Het |
| Zfp940 |
A |
T |
7: 29,535,042 (GRCm39) |
V108E |
unknown |
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 |
|
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'- CTGTGCAAAGCTAAAGCAGG -3'
(R):5'- TTTCTCCTGTGACAAGGGAACAC -3'
Sequencing Primer
(F):5'- ATTGCTGTACGATTTCATGGAGAAG -3'
(R):5'- CCCACCTAGACATCAGGGCTATTC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation