Incidental Mutation 'R7401:Hace1'
| ID |
574175 |
| 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 |
045483-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.545)
|
| Stock # |
R7401 (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 45546722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 452
(L452P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037044
AA Change: L452P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: L452P
| 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: 99.2%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
A |
T |
16: 16,936,268 (GRCm39) |
L152Q |
probably benign |
Het |
| Abcg3 |
A |
T |
5: 105,114,640 (GRCm39) |
N292K |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,855,309 (GRCm39) |
|
probably null |
Het |
| Adgrg7 |
T |
C |
16: 56,562,781 (GRCm39) |
N519D |
probably benign |
Het |
| Adsl |
A |
G |
15: 80,846,983 (GRCm39) |
H263R |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,299,000 (GRCm39) |
D1567V |
unknown |
Het |
| Bscl2 |
T |
C |
19: 8,823,914 (GRCm39) |
F280L |
possibly damaging |
Het |
| Cacna1b |
T |
A |
2: 24,569,306 (GRCm39) |
T873S |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 119,029,669 (GRCm39) |
|
probably null |
Het |
| Cast |
G |
T |
13: 74,956,577 (GRCm39) |
A18E |
unknown |
Het |
| Cd207 |
A |
C |
6: 83,654,830 (GRCm39) |
|
probably benign |
Het |
| Cd79b |
A |
G |
11: 106,203,678 (GRCm39) |
S130P |
probably benign |
Het |
| Cfap52 |
A |
T |
11: 67,840,459 (GRCm39) |
N157K |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Chaf1b |
G |
T |
16: 93,681,268 (GRCm39) |
|
probably benign |
Het |
| Cntn1 |
A |
G |
15: 92,215,870 (GRCm39) |
I968V |
probably benign |
Het |
| Cntn5 |
C |
T |
9: 9,833,466 (GRCm39) |
V362I |
probably benign |
Het |
| Crem |
A |
G |
18: 3,295,329 (GRCm39) |
S80P |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,063,390 (GRCm39) |
T267I |
probably damaging |
Het |
| Cyth1 |
A |
T |
11: 118,073,077 (GRCm39) |
N274K |
possibly damaging |
Het |
| Dicer1 |
C |
T |
12: 104,678,537 (GRCm39) |
G594S |
probably benign |
Het |
| Enpp1 |
C |
T |
10: 24,521,180 (GRCm39) |
C849Y |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,622,979 (GRCm39) |
E1189G |
possibly damaging |
Het |
| Fermt1 |
C |
A |
2: 132,759,479 (GRCm39) |
V426L |
probably benign |
Het |
| Fes |
A |
G |
7: 80,028,524 (GRCm39) |
|
probably null |
Het |
| Gmeb1 |
C |
A |
4: 131,953,085 (GRCm39) |
L560F |
probably damaging |
Het |
| Hecw2 |
T |
A |
1: 53,943,502 (GRCm39) |
H975L |
probably damaging |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Il1r2 |
T |
A |
1: 40,162,370 (GRCm39) |
C338S |
probably damaging |
Het |
| Iqcn |
T |
C |
8: 71,169,921 (GRCm39) |
I1337T |
probably benign |
Het |
| Kcnb1 |
T |
C |
2: 167,030,204 (GRCm39) |
S114G |
probably damaging |
Het |
| Lce1c |
A |
T |
3: 92,587,623 (GRCm39) |
T17S |
unknown |
Het |
| Lhfpl4 |
C |
A |
6: 113,153,627 (GRCm39) |
L141F |
possibly damaging |
Het |
| Ms4a14 |
T |
C |
19: 11,279,594 (GRCm39) |
E988G |
possibly damaging |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Neurod1 |
T |
A |
2: 79,285,290 (GRCm39) |
D31V |
probably benign |
Het |
| Neurod4 |
A |
G |
10: 130,106,927 (GRCm39) |
C116R |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,928,537 (GRCm39) |
V28A |
probably benign |
Het |
| Odad1 |
A |
C |
7: 45,592,189 (GRCm39) |
Q323P |
probably damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,449 (GRCm39) |
V207A |
probably benign |
Het |
| Or5d44 |
T |
G |
2: 88,141,772 (GRCm39) |
M123L |
probably benign |
Het |
| Pabpc4l |
T |
A |
3: 46,401,024 (GRCm39) |
R207W |
probably damaging |
Het |
| Pabpc4l |
A |
T |
3: 46,400,687 (GRCm39) |
I319N |
probably damaging |
Het |
| Pcm1 |
G |
A |
8: 41,762,568 (GRCm39) |
D1371N |
probably damaging |
Het |
| Peg10 |
G |
GGTC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,706,867 (GRCm39) |
A557T |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,466,602 (GRCm39) |
V58D |
probably damaging |
Het |
| Prpf40a |
A |
G |
2: 53,046,959 (GRCm39) |
V259A |
probably benign |
Het |
| Psmd3 |
A |
T |
11: 98,576,466 (GRCm39) |
T123S |
probably benign |
Het |
| Ptgr2 |
G |
T |
12: 84,339,103 (GRCm39) |
|
probably benign |
Het |
| Ptprr |
A |
G |
10: 115,884,141 (GRCm39) |
H66R |
probably benign |
Het |
| Rftn2 |
A |
G |
1: 55,233,401 (GRCm39) |
|
probably null |
Het |
| Rsph14 |
T |
A |
10: 74,865,628 (GRCm39) |
E70V |
possibly damaging |
Het |
| Slc24a5 |
G |
A |
2: 124,930,111 (GRCm39) |
V471I |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spag9 |
A |
T |
11: 93,988,515 (GRCm39) |
T862S |
probably benign |
Het |
| Ssbp2 |
T |
A |
13: 91,839,002 (GRCm39) |
D291E |
probably benign |
Het |
| Supt5 |
T |
C |
7: 28,023,197 (GRCm39) |
K329E |
probably damaging |
Het |
| Syne2 |
G |
T |
12: 76,014,155 (GRCm39) |
K3115N |
probably damaging |
Het |
| Tars1 |
A |
T |
15: 11,392,095 (GRCm39) |
L239* |
probably null |
Het |
| Tbxa2r |
T |
C |
10: 81,168,625 (GRCm39) |
Y105H |
probably benign |
Het |
| Tesk1 |
T |
A |
4: 43,445,743 (GRCm39) |
D265E |
probably damaging |
Het |
| Tril |
T |
C |
6: 53,795,266 (GRCm39) |
D652G |
possibly damaging |
Het |
| Tsga10 |
T |
C |
1: 37,873,268 (GRCm39) |
R204G |
probably null |
Het |
| Twnk |
A |
G |
19: 45,000,219 (GRCm39) |
D645G |
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,217,122 (GRCm39) |
D1118V |
probably damaging |
Het |
| Unc119 |
T |
C |
11: 78,238,071 (GRCm39) |
I83T |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,685,574 (GRCm39) |
W2233R |
possibly damaging |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,416 (GRCm39) |
T185S |
possibly damaging |
Het |
| Vmn2r111 |
G |
T |
17: 22,790,067 (GRCm39) |
T313K |
possibly damaging |
Het |
| Wdr4 |
A |
G |
17: 31,728,806 (GRCm39) |
L123S |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,386 (GRCm39) |
E957G |
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 |
|
|
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 |
|
|
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'- GGCACTCATTGGATGAATGGTTAG -3'
(R):5'- CCTAAGACAAATGTGAATAGGACC -3'
Sequencing Primer
(F):5'- TCTATCTTGCTGAAACAAAAAGGCC -3'
(R):5'- AGACAAATGTGAATAGGACCTTTTAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation