Incidental Mutation 'R7938:Hace1'
| ID |
648881 |
| 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 |
045984-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
R7938 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
45453925-45588441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45562792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 769
(P769L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037044
AA Change: P769L
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: P769L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Bcam |
T |
G |
7: 19,490,738 (GRCm39) |
E586D |
probably benign |
Het |
| Bmp7 |
A |
C |
2: 172,721,283 (GRCm39) |
I264S |
probably benign |
Het |
| Casz1 |
G |
A |
4: 149,028,943 (GRCm39) |
M1129I |
probably benign |
Het |
| Ccdc59 |
T |
A |
10: 105,677,455 (GRCm39) |
N31K |
probably benign |
Het |
| Cfap61 |
A |
G |
2: 145,887,376 (GRCm39) |
Y607C |
probably benign |
Het |
| Cnga1 |
T |
C |
5: 72,761,597 (GRCm39) |
E639G |
probably benign |
Het |
| Coch |
T |
A |
12: 51,643,366 (GRCm39) |
|
probably null |
Het |
| Col6a6 |
A |
C |
9: 105,657,883 (GRCm39) |
Y776* |
probably null |
Het |
| Cyp1a1 |
T |
G |
9: 57,609,073 (GRCm39) |
L318R |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,389,666 (GRCm39) |
Y233F |
probably benign |
Het |
| Dgkz |
G |
T |
2: 91,795,817 (GRCm39) |
R42S |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,673,218 (GRCm39) |
Y78H |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,163,922 (GRCm39) |
N3111S |
probably damaging |
Het |
| Frmpd2 |
T |
C |
14: 33,260,246 (GRCm39) |
S768P |
probably benign |
Het |
| Gm45861 |
T |
A |
8: 28,071,990 (GRCm39) |
N1269K |
unknown |
Het |
| Gpr12 |
T |
A |
5: 146,520,094 (GRCm39) |
Y276F |
possibly damaging |
Het |
| Hapln1 |
G |
A |
13: 89,753,347 (GRCm39) |
R171H |
probably damaging |
Het |
| Hlx |
T |
G |
1: 184,464,125 (GRCm39) |
T72P |
probably benign |
Het |
| Iqcm |
G |
T |
8: 76,304,596 (GRCm39) |
C119F |
probably benign |
Het |
| Katna1 |
G |
T |
10: 7,637,075 (GRCm39) |
A409S |
probably benign |
Het |
| Kcnip2 |
A |
T |
19: 45,782,729 (GRCm39) |
I204N |
probably damaging |
Het |
| Kel |
G |
T |
6: 41,675,310 (GRCm39) |
Q314K |
probably benign |
Het |
| Klf5 |
T |
C |
14: 99,536,444 (GRCm39) |
V5A |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,607,896 (GRCm39) |
C282S |
probably benign |
Het |
| Lyar |
A |
G |
5: 38,388,295 (GRCm39) |
T274A |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,415,959 (GRCm39) |
H306R |
possibly damaging |
Het |
| Morn5 |
A |
T |
2: 35,947,082 (GRCm39) |
Y120F |
probably benign |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,240 (GRCm39) |
T193A |
probably benign |
Het |
| Myh10 |
T |
A |
11: 68,583,327 (GRCm39) |
W8R |
unknown |
Het |
| Nfasc |
A |
G |
1: 132,533,269 (GRCm39) |
V644A |
probably damaging |
Het |
| Nup153 |
G |
T |
13: 46,842,855 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
C |
6: 96,141,866 (GRCm39) |
K393E |
possibly damaging |
Het |
| Or1o4 |
T |
A |
17: 37,590,991 (GRCm39) |
M107L |
probably benign |
Het |
| Or4x6 |
A |
T |
2: 89,949,173 (GRCm39) |
Y256* |
probably null |
Het |
| Or5h19 |
A |
T |
16: 58,856,325 (GRCm39) |
Y258* |
probably null |
Het |
| Orc4 |
A |
T |
2: 48,800,203 (GRCm39) |
V315E |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,443,549 (GRCm39) |
|
probably null |
Het |
| Pif1 |
A |
G |
9: 65,502,073 (GRCm39) |
D635G |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,310,648 (GRCm39) |
T52A |
probably damaging |
Het |
| Ppp1r36 |
A |
T |
12: 76,485,180 (GRCm39) |
D301V |
probably damaging |
Het |
| Prss46 |
A |
G |
9: 110,680,500 (GRCm39) |
N215S |
probably benign |
Het |
| Qser1 |
A |
C |
2: 104,619,312 (GRCm39) |
V410G |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,155,870 (GRCm39) |
N2207K |
probably damaging |
Het |
| Rimkla |
A |
G |
4: 119,327,810 (GRCm39) |
V180A |
probably benign |
Het |
| Rpa1 |
CA |
C |
11: 75,198,050 (GRCm39) |
|
probably null |
Het |
| Rsph3a |
G |
T |
17: 8,165,050 (GRCm39) |
E137* |
probably null |
Het |
| Spata31f1a |
A |
G |
4: 42,850,765 (GRCm39) |
S464P |
possibly damaging |
Het |
| Sqle |
C |
A |
15: 59,196,315 (GRCm39) |
H369Q |
probably damaging |
Het |
| Srebf2 |
T |
A |
15: 82,057,016 (GRCm39) |
D250E |
probably damaging |
Het |
| Svs3b |
A |
T |
2: 164,097,567 (GRCm39) |
C251* |
probably null |
Het |
| Tdrd9 |
A |
T |
12: 111,997,649 (GRCm39) |
N713Y |
possibly damaging |
Het |
| Terf2ip |
T |
C |
8: 112,738,717 (GRCm39) |
S202P |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,096 (GRCm39) |
T707A |
probably benign |
Het |
| Trav8-1 |
T |
G |
14: 53,707,688 (GRCm39) |
D109E |
possibly damaging |
Het |
| Trem2 |
T |
A |
17: 48,658,777 (GRCm39) |
S181T |
probably benign |
Het |
| Trim37 |
A |
G |
11: 87,037,863 (GRCm39) |
N199S |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,468,583 (GRCm39) |
F191L |
probably damaging |
Het |
| Ubxn8 |
A |
G |
8: 34,111,712 (GRCm39) |
M227T |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,296,519 (GRCm39) |
I448F |
possibly damaging |
Het |
| Usp47 |
T |
A |
7: 111,687,132 (GRCm39) |
L697M |
probably damaging |
Het |
| Vmn2r52 |
T |
C |
7: 9,893,300 (GRCm39) |
D613G |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,338,828 (GRCm39) |
T1444A |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,622,304 (GRCm39) |
Y11C |
unknown |
Het |
| Zw10 |
T |
A |
9: 48,982,933 (GRCm39) |
D521E |
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 |
|
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 |
|
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'- AAACAAATGCATCCATTCTGGC -3'
(R):5'- AAGGGAACTCTTAATAAGGCTACTC -3'
Sequencing Primer
(F):5'- CCATTCTGGCTTAACTGTATGAG -3'
(R):5'- TTTACGGTACTAGGGATGAAACC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation