Incidental Mutation 'R6467:Hace1'
| ID |
516657 |
| 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 |
044600-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.545)
|
| Stock # |
R6467 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
45453925-45588441 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 45466362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
[ENSMUST00000131568]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037044
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
| 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 null
Transcript: ENSMUST00000131568
|
| SMART Domains |
Protein: ENSMUSP00000121196
Gene: ENSMUSG00000038822
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
4 |
37 |
2e-15 |
BLAST |
|
ANK
|
42 |
71 |
3.23e-4 |
SMART |
|
ANK
|
75 |
104 |
7.76e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136905
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142956
|
| Meta Mutation Damage Score |
0.9490 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
99% (72/73) |
| 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 |
|---|
| Acvr1b |
T |
C |
15: 101,092,722 (GRCm39) |
W122R |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,592,657 (GRCm39) |
R4294H |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,024,315 (GRCm39) |
T74A |
probably damaging |
Het |
| Aff3 |
T |
A |
1: 38,247,098 (GRCm39) |
D829V |
probably benign |
Het |
| Akr1c12 |
T |
C |
13: 4,325,772 (GRCm39) |
Q107R |
probably benign |
Het |
| Apc |
T |
A |
18: 34,402,252 (GRCm39) |
F131I |
probably benign |
Het |
| Atosb |
A |
T |
4: 43,033,687 (GRCm39) |
F489I |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,259,424 (GRCm39) |
L1036H |
probably damaging |
Het |
| BC035044 |
A |
C |
6: 128,867,855 (GRCm39) |
|
probably benign |
Het |
| C1rl |
A |
G |
6: 124,485,535 (GRCm39) |
D302G |
probably benign |
Het |
| C2cd6 |
A |
C |
1: 59,117,093 (GRCm39) |
D133E |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,629,671 (GRCm39) |
Y1061F |
probably damaging |
Het |
| Cav1 |
A |
G |
6: 17,308,034 (GRCm39) |
D62G |
probably damaging |
Het |
| Ccdc77 |
T |
C |
6: 120,327,242 (GRCm39) |
M68V |
probably damaging |
Het |
| Cd55 |
A |
T |
1: 130,375,348 (GRCm39) |
|
probably benign |
Het |
| Cdc27 |
C |
A |
11: 104,413,602 (GRCm39) |
A380S |
probably damaging |
Het |
| Cenpb |
A |
T |
2: 131,021,477 (GRCm39) |
I107K |
probably damaging |
Het |
| Cep135 |
T |
G |
5: 76,769,187 (GRCm39) |
H612Q |
possibly damaging |
Het |
| Chd1l |
A |
T |
3: 97,470,849 (GRCm39) |
N815K |
probably damaging |
Het |
| Cldn20 |
C |
T |
17: 3,582,992 (GRCm39) |
T55M |
possibly damaging |
Het |
| Depdc1a |
A |
T |
3: 159,221,679 (GRCm39) |
I208L |
probably benign |
Het |
| Dgkb |
C |
T |
12: 38,134,223 (GRCm39) |
A43V |
possibly damaging |
Het |
| Dgkb |
C |
T |
12: 38,654,104 (GRCm39) |
T741I |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,197,076 (GRCm39) |
N653S |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,438,329 (GRCm39) |
S3987T |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,906,758 (GRCm39) |
D685G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,334,277 (GRCm39) |
I4835N |
probably damaging |
Het |
| Esrrb |
A |
G |
12: 86,561,114 (GRCm39) |
I288V |
probably damaging |
Het |
| Fnta |
C |
T |
8: 26,497,341 (GRCm39) |
W169* |
probably null |
Het |
| Golga4 |
T |
C |
9: 118,365,860 (GRCm39) |
L304P |
probably damaging |
Het |
| Ino80b |
G |
T |
6: 83,101,112 (GRCm39) |
|
probably null |
Het |
| Kcmf1 |
G |
A |
6: 72,820,082 (GRCm39) |
R306C |
probably damaging |
Het |
| Lrrc46 |
G |
A |
11: 96,927,305 (GRCm39) |
T92I |
possibly damaging |
Het |
| Man2b1 |
T |
C |
8: 85,824,076 (GRCm39) |
V991A |
possibly damaging |
Het |
| Mga |
A |
G |
2: 119,776,776 (GRCm39) |
N1770S |
probably damaging |
Het |
| Mgat4e |
T |
C |
1: 134,468,944 (GRCm39) |
T367A |
probably benign |
Het |
| Mtr |
A |
G |
13: 12,202,992 (GRCm39) |
S1204P |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,417,487 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,560,585 (GRCm39) |
S74P |
probably damaging |
Het |
| Noct |
T |
C |
3: 51,157,508 (GRCm39) |
V282A |
possibly damaging |
Het |
| Nol11 |
A |
T |
11: 107,071,912 (GRCm39) |
I227K |
possibly damaging |
Het |
| Nsd3 |
T |
A |
8: 26,130,646 (GRCm39) |
S4T |
probably damaging |
Het |
| Or5m10b |
T |
A |
2: 85,699,714 (GRCm39) |
Y259* |
probably null |
Het |
| Or5p64 |
A |
G |
7: 107,855,109 (GRCm39) |
S79P |
probably damaging |
Het |
| Pds5a |
T |
A |
5: 65,809,782 (GRCm39) |
L393F |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,336,259 (GRCm39) |
R1486C |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,272,028 (GRCm39) |
T768A |
probably damaging |
Het |
| Rin3 |
A |
T |
12: 102,335,584 (GRCm39) |
E418D |
probably benign |
Het |
| Rnf214 |
G |
T |
9: 45,778,886 (GRCm39) |
T586N |
probably damaging |
Het |
| Samd4b |
A |
G |
7: 28,101,285 (GRCm39) |
S667P |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,061,161 (GRCm39) |
Y100C |
probably damaging |
Het |
| Slc46a2 |
T |
C |
4: 59,914,077 (GRCm39) |
E282G |
probably benign |
Het |
| Themis |
A |
C |
10: 28,657,762 (GRCm39) |
N110T |
possibly damaging |
Het |
| Tln1 |
C |
A |
4: 43,543,165 (GRCm39) |
S1333I |
probably benign |
Het |
| Tmem53 |
T |
C |
4: 117,125,625 (GRCm39) |
V224A |
possibly damaging |
Het |
| Tmtc4 |
T |
A |
14: 123,163,391 (GRCm39) |
K664N |
possibly damaging |
Het |
| Tnni3k |
T |
C |
3: 154,674,922 (GRCm39) |
D201G |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,912,898 (GRCm39) |
E1681G |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,340,103 (GRCm39) |
D567E |
probably damaging |
Het |
| Tsc2 |
T |
C |
17: 24,828,101 (GRCm39) |
M788V |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,926,650 (GRCm39) |
Y476C |
probably damaging |
Het |
| Ubiad1 |
T |
C |
4: 148,520,682 (GRCm39) |
N314S |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,139,771 (GRCm39) |
N2375K |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,939 (GRCm39) |
I831F |
probably damaging |
Het |
| Vwa3b |
T |
A |
1: 37,124,367 (GRCm39) |
C322S |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,939,916 (GRCm39) |
H238Q |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,300,081 (GRCm39) |
Y210H |
probably damaging |
Het |
| Wwc2 |
T |
C |
8: 48,304,943 (GRCm39) |
D894G |
unknown |
Het |
| Yes1 |
T |
A |
5: 32,810,381 (GRCm39) |
F180Y |
probably damaging |
Het |
| Yju2b |
T |
C |
8: 84,985,318 (GRCm39) |
E317G |
probably benign |
Het |
| Zbtb46 |
T |
C |
2: 181,033,062 (GRCm39) |
Y533C |
probably damaging |
Het |
| Zfp57 |
T |
C |
17: 37,316,942 (GRCm39) |
S7P |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,802,090 (GRCm39) |
|
probably null |
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 |
|
|
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'- TTCATGATTAGCTAGCTCCCG -3'
(R):5'- GATCAAGAATGAGTTCCTTAGAAGC -3'
Sequencing Primer
(F):5'- TCATGATTAGCTAGCTCCCGGAAAG -3'
(R):5'- AGCTTCCAGGCCTGATAATG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation