Incidental Mutation 'R9644:Hace1'
| ID |
726154 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
R9644 (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 45526001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 281
(S281P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037044
AA Change: S281P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: S281P
| 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 |
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
C |
A |
4: 152,270,752 (GRCm39) |
S32* |
probably null |
Het |
| Adam34 |
T |
A |
8: 44,104,766 (GRCm39) |
H293L |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,872,036 (GRCm39) |
N910S |
probably damaging |
Het |
| Ankrd11 |
C |
T |
8: 123,617,682 (GRCm39) |
A2057T |
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,593,835 (GRCm39) |
D480G |
possibly damaging |
Het |
| Aox4 |
T |
A |
1: 58,267,278 (GRCm39) |
D185E |
probably benign |
Het |
| Apol8 |
C |
A |
15: 77,633,695 (GRCm39) |
V294L |
probably damaging |
Het |
| Arsk |
G |
A |
13: 76,220,227 (GRCm39) |
A289V |
probably damaging |
Het |
| Atg101 |
A |
G |
15: 101,188,447 (GRCm39) |
D184G |
probably benign |
Het |
| Atp10b |
C |
T |
11: 43,042,659 (GRCm39) |
T73I |
probably damaging |
Het |
| Ccn4 |
T |
G |
15: 66,784,785 (GRCm39) |
C153G |
|
Het |
| Ccser2 |
A |
T |
14: 36,601,150 (GRCm39) |
N411K |
possibly damaging |
Het |
| Cct5 |
A |
G |
15: 31,601,845 (GRCm39) |
S3P |
probably benign |
Het |
| Chn1 |
A |
T |
2: 73,490,184 (GRCm39) |
I31K |
probably benign |
Het |
| Clec2e |
T |
A |
6: 129,070,443 (GRCm39) |
I193L |
probably benign |
Het |
| Crim1 |
G |
A |
17: 78,587,497 (GRCm39) |
G201R |
probably damaging |
Het |
| Ctrc |
A |
G |
4: 141,572,336 (GRCm39) |
V68A |
probably damaging |
Het |
| Dennd4c |
T |
A |
4: 86,713,363 (GRCm39) |
I438N |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,230,650 (GRCm39) |
W183R |
probably damaging |
Het |
| Dnali1 |
T |
A |
4: 124,950,402 (GRCm39) |
I253F |
probably damaging |
Het |
| Dyrk1b |
T |
C |
7: 27,881,790 (GRCm39) |
L83P |
probably damaging |
Het |
| Emx2 |
T |
C |
19: 59,452,427 (GRCm39) |
I237T |
probably benign |
Het |
| Enpp3 |
C |
T |
10: 24,685,801 (GRCm39) |
R198K |
probably damaging |
Het |
| Epb41l1 |
C |
T |
2: 156,367,165 (GRCm39) |
P678L |
possibly damaging |
Het |
| Epm2aip1 |
C |
T |
9: 111,102,137 (GRCm39) |
T370I |
probably damaging |
Het |
| Fam184a |
T |
G |
10: 53,573,342 (GRCm39) |
Q346P |
probably damaging |
Het |
| Foxi2 |
A |
C |
7: 135,013,727 (GRCm39) |
H319P |
possibly damaging |
Het |
| Gatad1 |
A |
G |
5: 3,691,442 (GRCm39) |
V250A |
possibly damaging |
Het |
| Gmeb1 |
T |
C |
4: 131,959,440 (GRCm39) |
I205V |
probably benign |
Het |
| Gucy2g |
C |
G |
19: 55,219,537 (GRCm39) |
V362L |
probably benign |
Het |
| Helz |
C |
A |
11: 107,563,687 (GRCm39) |
A1709D |
unknown |
Het |
| Igf2bp2 |
T |
A |
16: 21,902,735 (GRCm39) |
N115Y |
probably damaging |
Het |
| Igkv4-86 |
C |
T |
6: 68,887,593 (GRCm39) |
V49I |
probably benign |
Het |
| Kdm2b |
A |
T |
5: 123,120,842 (GRCm39) |
V101E |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,061,018 (GRCm39) |
D790G |
probably damaging |
Het |
| Kif18a |
A |
G |
2: 109,171,517 (GRCm39) |
T865A |
probably benign |
Het |
| Kif1b |
A |
G |
4: 149,375,836 (GRCm39) |
V10A |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,743,385 (GRCm39) |
M3925K |
unknown |
Het |
| Mcee |
G |
T |
7: 64,061,730 (GRCm39) |
A178S |
possibly damaging |
Het |
| Megf10 |
A |
T |
18: 57,375,773 (GRCm39) |
H233L |
probably benign |
Het |
| Meox1 |
T |
A |
11: 101,769,482 (GRCm39) |
E238V |
probably benign |
Het |
| Myo5a |
G |
A |
9: 75,043,631 (GRCm39) |
G207R |
probably damaging |
Het |
| Nemf |
T |
A |
12: 69,359,436 (GRCm39) |
N966I |
possibly damaging |
Het |
| Or10q3 |
T |
C |
19: 11,848,574 (GRCm39) |
E2G |
probably benign |
Het |
| Or1j14 |
A |
T |
2: 36,417,777 (GRCm39) |
M118L |
probably damaging |
Het |
| Or5b123 |
G |
T |
19: 13,597,344 (GRCm39) |
A230S |
probably benign |
Het |
| Or6c204 |
A |
G |
10: 129,022,738 (GRCm39) |
I184T |
possibly damaging |
Het |
| Pfas |
T |
C |
11: 68,883,542 (GRCm39) |
Q662R |
probably benign |
Het |
| Phf2 |
G |
T |
13: 49,024,218 (GRCm39) |
C8* |
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,617,690 (GRCm39) |
N965I |
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
| Prb1b |
T |
A |
6: 132,289,218 (GRCm39) |
Q202L |
unknown |
Het |
| Prdm8 |
A |
T |
5: 98,333,638 (GRCm39) |
T402S |
probably benign |
Het |
| Proz |
T |
A |
8: 13,116,854 (GRCm39) |
D135E |
probably benign |
Het |
| Prtg |
T |
A |
9: 72,813,493 (GRCm39) |
I951K |
probably damaging |
Het |
| Rasgef1b |
A |
T |
5: 99,380,014 (GRCm39) |
Y288* |
probably null |
Het |
| Sacs |
T |
A |
14: 61,443,428 (GRCm39) |
C1825S |
probably benign |
Het |
| Slc22a12 |
G |
C |
19: 6,587,673 (GRCm39) |
P427R |
probably damaging |
Het |
| Slfn3 |
A |
G |
11: 83,105,728 (GRCm39) |
Y575C |
probably damaging |
Het |
| St18 |
C |
T |
1: 6,929,276 (GRCm39) |
T56I |
|
Het |
| Synrg |
T |
C |
11: 83,910,696 (GRCm39) |
L876S |
probably damaging |
Het |
| Tchh |
T |
C |
3: 93,354,666 (GRCm39) |
C1369R |
unknown |
Het |
| Tet2 |
G |
A |
3: 133,193,064 (GRCm39) |
Q457* |
probably null |
Het |
| Thap12 |
T |
C |
7: 98,364,495 (GRCm39) |
V221A |
probably damaging |
Het |
| Tor3a |
T |
A |
1: 156,501,126 (GRCm39) |
D104V |
probably damaging |
Het |
| Trpc2 |
T |
C |
7: 101,744,439 (GRCm39) |
V737A |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,129,699 (GRCm39) |
Y155C |
probably damaging |
Het |
| Tspyl1 |
T |
C |
10: 34,159,135 (GRCm39) |
S287P |
possibly damaging |
Het |
| Ube2u |
TAGAAGAAGAAGAAGAAGAAGAAGAAGA |
TAGAAGAAGAAGAAGAAGAAGAAGA |
4: 100,406,943 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
A |
G |
17: 47,266,706 (GRCm39) |
|
probably null |
Het |
| Vmn1r238 |
T |
A |
18: 3,122,635 (GRCm39) |
T260S |
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 |
|
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 |
|
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'- CCCAAGCTCAGTATTTGTAATAGC -3'
(R):5'- CAGCAAATTGTTTACACAGCTCATC -3'
Sequencing Primer
(F):5'- ATCTTGGAAAAGTTGCAGATTTGG -3'
(R):5'- TGTTTACACAGCTCATCAATGAC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation