Incidental Mutation 'R8757:Hace1'
| ID |
671701 |
| 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 |
068621-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
R8757 (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 A
at 45546539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 391
(I391N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037044
AA Change: I391N
PolyPhen 2
Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: I391N
| 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 |
|
| Meta Mutation Damage Score |
0.2441 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (59/59) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
C |
11: 117,697,112 (GRCm39) |
V237A |
probably benign |
Het |
| Abca15 |
G |
A |
7: 120,006,631 (GRCm39) |
V1632M |
probably damaging |
Het |
| Adam20 |
A |
T |
8: 41,248,943 (GRCm39) |
H351L |
probably benign |
Het |
| Ak9 |
T |
C |
10: 41,299,036 (GRCm39) |
V1579A |
unknown |
Het |
| Apol7e |
T |
C |
15: 77,602,065 (GRCm39) |
V221A |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,933,640 (GRCm39) |
H754R |
probably damaging |
Het |
| Atp6v0d2 |
T |
A |
4: 19,910,649 (GRCm39) |
R80S |
probably benign |
Het |
| Cers3 |
G |
A |
7: 66,435,850 (GRCm39) |
V270M |
probably damaging |
Het |
| Ces3a |
A |
G |
8: 105,784,129 (GRCm39) |
H443R |
probably damaging |
Het |
| Cnot7 |
A |
G |
8: 40,947,080 (GRCm39) |
V269A |
probably benign |
Het |
| Cntn1 |
T |
G |
15: 92,153,801 (GRCm39) |
F485V |
possibly damaging |
Het |
| Copa |
A |
G |
1: 171,947,081 (GRCm39) |
I1068M |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,261,567 (GRCm39) |
V2612M |
possibly damaging |
Het |
| Dgkz |
T |
C |
2: 91,775,922 (GRCm39) |
T114A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,586,067 (GRCm39) |
D538E |
probably benign |
Het |
| Epn3 |
C |
A |
11: 94,386,848 (GRCm39) |
G174V |
possibly damaging |
Het |
| Evx2 |
C |
T |
2: 74,486,226 (GRCm39) |
A388T |
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,537,054 (GRCm39) |
M553T |
possibly damaging |
Het |
| Ficd |
G |
T |
5: 113,876,575 (GRCm39) |
R250L |
probably damaging |
Het |
| Fmo2 |
A |
G |
1: 162,708,005 (GRCm39) |
S377P |
probably benign |
Het |
| Gm19410 |
A |
T |
8: 36,276,119 (GRCm39) |
Q1592L |
possibly damaging |
Het |
| Gm4792 |
T |
A |
10: 94,131,049 (GRCm39) |
T87S |
unknown |
Het |
| Gm8947 |
C |
A |
1: 151,068,809 (GRCm39) |
T214K |
probably benign |
Het |
| H6pd |
C |
T |
4: 150,066,758 (GRCm39) |
V551I |
probably benign |
Het |
| Heyl |
C |
T |
4: 123,127,666 (GRCm39) |
R3W |
probably damaging |
Het |
| Htr4 |
T |
A |
18: 62,545,335 (GRCm39) |
V40E |
probably damaging |
Het |
| Ighg1 |
A |
T |
12: 113,292,657 (GRCm39) |
L304* |
probably null |
Het |
| Igkv1-135 |
T |
A |
6: 67,587,470 (GRCm39) |
W114R |
possibly damaging |
Het |
| Itga8 |
T |
C |
2: 12,266,940 (GRCm39) |
D165G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,754,210 (GRCm39) |
V1210E |
unknown |
Het |
| Lipt2 |
GGCGCCCGCGCGCG |
GGCG |
7: 99,808,888 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
A |
G |
11: 103,348,766 (GRCm39) |
V2643A |
unknown |
Het |
| Map4k5 |
A |
G |
12: 69,897,598 (GRCm39) |
|
probably benign |
Het |
| Mecom |
A |
T |
3: 30,292,268 (GRCm39) |
D14E |
|
Het |
| Myo3a |
G |
T |
2: 22,448,319 (GRCm39) |
K969N |
possibly damaging |
Het |
| Nat3 |
T |
C |
8: 68,000,202 (GRCm39) |
I27T |
probably damaging |
Het |
| Nr1d1 |
G |
C |
11: 98,660,073 (GRCm39) |
R484G |
probably damaging |
Het |
| Nr2c1 |
T |
C |
10: 94,031,119 (GRCm39) |
L560P |
probably damaging |
Het |
| Or52e8 |
T |
C |
7: 104,624,325 (GRCm39) |
N293S |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,255,006 (GRCm39) |
D327G |
probably damaging |
Het |
| Ppihl |
A |
T |
5: 44,070,999 (GRCm39) |
N119I |
probably benign |
Het |
| Ppp1r13l |
G |
T |
7: 19,103,981 (GRCm39) |
G154V |
probably damaging |
Het |
| Psmc5 |
A |
G |
11: 106,153,687 (GRCm39) |
D382G |
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 22,972,716 (GRCm39) |
Q209K |
possibly damaging |
Het |
| Rev1 |
A |
C |
1: 38,098,353 (GRCm39) |
L730R |
probably damaging |
Het |
| Rin3 |
G |
A |
12: 102,339,861 (GRCm39) |
V684I |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,298,080 (GRCm39) |
F484L |
probably benign |
Het |
| Secisbp2 |
G |
A |
13: 51,833,869 (GRCm39) |
V670I |
possibly damaging |
Het |
| Sema6d |
G |
A |
2: 124,497,134 (GRCm39) |
C136Y |
probably damaging |
Het |
| Sf3a2 |
T |
A |
10: 80,640,138 (GRCm39) |
H316Q |
unknown |
Het |
| Slc18b1 |
T |
C |
10: 23,692,198 (GRCm39) |
|
silent |
Het |
| Sp100 |
T |
C |
1: 85,590,285 (GRCm39) |
V93A |
possibly damaging |
Het |
| Spta1 |
C |
T |
1: 174,040,940 (GRCm39) |
L1247F |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,144,618 (GRCm39) |
N21I |
probably damaging |
Het |
| Tbck |
G |
T |
3: 132,392,587 (GRCm39) |
M9I |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,274,500 (GRCm39) |
Y376C |
probably damaging |
Het |
| Tmem199 |
T |
A |
11: 78,398,633 (GRCm39) |
|
probably benign |
Het |
| Ttf2 |
A |
G |
3: 100,857,648 (GRCm39) |
L759P |
probably damaging |
Het |
| Ubqlnl |
T |
A |
7: 103,799,206 (GRCm39) |
H97L |
probably damaging |
Het |
| Zfp800 |
T |
C |
6: 28,244,270 (GRCm39) |
I232V |
probably benign |
Het |
| Zfp831 |
A |
G |
2: 174,487,874 (GRCm39) |
T850A |
probably benign |
Het |
| Zpld2 |
T |
C |
4: 133,930,282 (GRCm39) |
T8A |
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 |
|
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 |
|
|
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'- CTGTGCACTAAACAGTTTTCTCAG -3'
(R):5'- CACAGAGATGACGTCTTGACAG -3'
Sequencing Primer
(F):5'- CTCAGATTTTTAGCAATTTTCAGGC -3'
(R):5'- AGATGACGTCTTGACAGTCGGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation