Incidental Mutation 'R6237:Hace1'
| ID |
505004 |
| 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 |
044362-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
R6237 (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 C
at 45524986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 251
(Y251H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037044
AA Change: Y251H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: Y251H
| 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 |
noncoding transcript
Transcript: ENSMUST00000142956
|
| Meta Mutation Damage Score |
0.0710 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad2 |
G |
A |
8: 120,342,502 (GRCm39) |
R380H |
probably damaging |
Het |
| Akr1c12 |
C |
A |
13: 4,325,767 (GRCm39) |
D109Y |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,033,582 (GRCm39) |
M1020L |
possibly damaging |
Het |
| Cbx8 |
C |
A |
11: 118,931,213 (GRCm39) |
R25L |
possibly damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,891,407 (GRCm39) |
Y633C |
probably benign |
Het |
| Col4a4 |
C |
T |
1: 82,484,752 (GRCm39) |
S505N |
unknown |
Het |
| Cr2 |
T |
A |
1: 194,839,810 (GRCm39) |
H539L |
probably damaging |
Het |
| Cyp2b9 |
T |
A |
7: 25,872,999 (GRCm39) |
D47E |
probably benign |
Het |
| Dnah3 |
A |
C |
7: 119,608,607 (GRCm39) |
M1784R |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,966,828 (GRCm39) |
L2520* |
probably null |
Het |
| E2f2 |
A |
G |
4: 135,905,796 (GRCm39) |
E103G |
possibly damaging |
Het |
| Eef1akmt3 |
T |
A |
10: 126,868,877 (GRCm39) |
H199L |
possibly damaging |
Het |
| Faxc |
A |
T |
4: 21,993,376 (GRCm39) |
N340I |
possibly damaging |
Het |
| Fer1l6 |
A |
T |
15: 58,497,026 (GRCm39) |
R1199* |
probably null |
Het |
| Fer1l6 |
A |
G |
15: 58,509,855 (GRCm39) |
D1439G |
probably damaging |
Het |
| Galnt5 |
G |
T |
2: 57,925,261 (GRCm39) |
W847C |
probably damaging |
Het |
| Gbp2 |
G |
A |
3: 142,337,793 (GRCm39) |
S303N |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,896,332 (GRCm39) |
K40* |
probably null |
Het |
| Gm4353 |
A |
C |
7: 115,683,134 (GRCm39) |
L149R |
possibly damaging |
Het |
| Grk5 |
A |
G |
19: 61,078,380 (GRCm39) |
D479G |
probably damaging |
Het |
| Gzmc |
T |
A |
14: 56,471,486 (GRCm39) |
|
probably null |
Het |
| Hhla1 |
G |
T |
15: 65,813,646 (GRCm39) |
P229T |
probably damaging |
Het |
| Hspa1l |
C |
T |
17: 35,196,428 (GRCm39) |
Q156* |
probably null |
Het |
| Igkv4-78 |
A |
T |
6: 69,036,683 (GRCm39) |
Y117N |
probably benign |
Het |
| Ikzf3 |
C |
A |
11: 98,357,879 (GRCm39) |
R486L |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,355,164 (GRCm39) |
T485M |
possibly damaging |
Het |
| Kcnab3 |
T |
C |
11: 69,219,401 (GRCm39) |
Y131H |
probably benign |
Het |
| Kcnu1 |
C |
T |
8: 26,422,362 (GRCm39) |
P209L |
probably benign |
Het |
| Klk1b8 |
T |
A |
7: 43,448,094 (GRCm39) |
C39* |
probably null |
Het |
| Mbtps1 |
A |
G |
8: 120,255,700 (GRCm39) |
L519P |
probably damaging |
Het |
| Mgat4a |
A |
G |
1: 37,495,673 (GRCm39) |
I287T |
probably damaging |
Het |
| Mindy2 |
T |
C |
9: 70,512,480 (GRCm39) |
E590G |
possibly damaging |
Het |
| Mllt11 |
G |
T |
3: 95,127,602 (GRCm39) |
T56K |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,875,249 (GRCm39) |
R1551H |
probably damaging |
Het |
| Nmrk2 |
T |
C |
10: 81,036,796 (GRCm39) |
T16A |
possibly damaging |
Het |
| Or2ab1 |
T |
A |
11: 58,488,831 (GRCm39) |
F203Y |
probably damaging |
Het |
| Or7e170 |
G |
T |
9: 19,795,365 (GRCm39) |
P79T |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 109,013,899 (GRCm39) |
D65G |
probably damaging |
Het |
| Phf2 |
T |
A |
13: 48,957,131 (GRCm39) |
K1079* |
probably null |
Het |
| Plcb1 |
A |
G |
2: 135,212,486 (GRCm39) |
S1026G |
possibly damaging |
Het |
| Pnrc2 |
A |
T |
4: 135,599,397 (GRCm39) |
H117Q |
probably benign |
Het |
| Ppfia2 |
A |
T |
10: 106,749,455 (GRCm39) |
I1114F |
probably damaging |
Het |
| Rpl12 |
G |
A |
2: 32,853,000 (GRCm39) |
E72K |
probably benign |
Het |
| Sbf1 |
C |
T |
15: 89,177,679 (GRCm39) |
R1642H |
probably benign |
Het |
| Sephs2 |
G |
A |
7: 126,873,118 (GRCm39) |
|
probably benign |
Het |
| Slc35c2 |
A |
T |
2: 165,122,617 (GRCm39) |
L194H |
probably damaging |
Het |
| Slfn4 |
T |
A |
11: 83,079,938 (GRCm39) |
Y150N |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,292,723 (GRCm39) |
R949G |
probably damaging |
Het |
| Urah |
T |
A |
7: 140,415,618 (GRCm39) |
S28T |
probably damaging |
Het |
| Wdr62 |
A |
G |
7: 29,941,860 (GRCm39) |
S649P |
probably damaging |
Het |
| Wnk1 |
C |
A |
6: 119,929,728 (GRCm39) |
G1263V |
probably damaging |
Het |
| Zbtb4 |
C |
A |
11: 69,669,069 (GRCm39) |
D114E |
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 |
|
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 |
|
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'- CCTCTAGATCTATGTGTACAGGTATGC -3'
(R):5'- GAATCCCCATATATCAAGGGCTAAC -3'
Sequencing Primer
(F):5'- TGCTTTTAATATATAATTCCAAGCGC -3'
(R):5'- GCAAGCTTATGCTACCATG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation