Incidental Mutation 'R6195:Hace1'
| ID |
502864 |
| 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 |
044335-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.545)
|
| Stock # |
R6195 (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 A
at 45546539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 391
(I391N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037044
AA Change: I391N
PolyPhen 2
Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: I391N
| 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 |
|
| Meta Mutation Damage Score |
0.2441 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
97% (76/78) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,857,142 (GRCm39) |
|
probably null |
Het |
| Aadacl2fm2 |
G |
A |
3: 59,659,623 (GRCm39) |
V359I |
probably damaging |
Het |
| Abtb1 |
T |
C |
6: 88,817,718 (GRCm39) |
E50G |
probably benign |
Het |
| Agbl2 |
T |
A |
2: 90,643,657 (GRCm39) |
D792E |
probably benign |
Het |
| Aoc1 |
C |
A |
6: 48,885,611 (GRCm39) |
N705K |
probably damaging |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Arhgef7 |
C |
T |
8: 11,872,017 (GRCm39) |
T701I |
probably damaging |
Het |
| Atg10 |
G |
T |
13: 91,356,555 (GRCm39) |
|
probably null |
Het |
| Atp5f1c |
T |
C |
2: 10,068,926 (GRCm39) |
I116M |
possibly damaging |
Het |
| Baz2b |
T |
A |
2: 59,737,855 (GRCm39) |
Q1818L |
possibly damaging |
Het |
| Bod1 |
A |
G |
11: 31,616,740 (GRCm39) |
*174Q |
probably null |
Het |
| Cacna1a |
A |
G |
8: 85,315,382 (GRCm39) |
Y1539C |
probably damaging |
Het |
| Creb3 |
A |
G |
4: 43,566,346 (GRCm39) |
D260G |
probably benign |
Het |
| Cyp1b1 |
G |
T |
17: 80,021,695 (GRCm39) |
L16M |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,101,071 (GRCm39) |
S1205T |
probably benign |
Het |
| Dlec1 |
A |
G |
9: 118,966,321 (GRCm39) |
K1097E |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,243,429 (GRCm39) |
D1578N |
probably damaging |
Het |
| Dok3 |
T |
C |
13: 55,671,389 (GRCm39) |
N394S |
probably benign |
Het |
| Dpcd |
A |
G |
19: 45,565,458 (GRCm39) |
D144G |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,769,580 (GRCm39) |
F243S |
possibly damaging |
Het |
| Eif2ak2 |
A |
T |
17: 79,178,662 (GRCm39) |
Y137* |
probably null |
Het |
| Eif4e1b |
A |
G |
13: 54,932,018 (GRCm39) |
N34S |
probably null |
Het |
| F2rl3 |
A |
G |
8: 73,489,513 (GRCm39) |
T247A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,004,119 (GRCm39) |
H782Q |
probably damaging |
Het |
| Fer1l5 |
T |
C |
1: 36,414,367 (GRCm39) |
|
probably null |
Het |
| Fer1l6 |
T |
C |
15: 58,509,806 (GRCm39) |
S1423P |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fgfbp1 |
T |
C |
5: 44,136,704 (GRCm39) |
D196G |
possibly damaging |
Het |
| Fxn |
G |
A |
19: 24,239,407 (GRCm39) |
R162C |
probably damaging |
Het |
| Fxr2 |
C |
T |
11: 69,543,099 (GRCm39) |
T632M |
probably benign |
Het |
| Gab1 |
A |
T |
8: 81,606,161 (GRCm39) |
Y24* |
probably null |
Het |
| Gcc2 |
T |
C |
10: 58,106,806 (GRCm39) |
S681P |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,905,175 (GRCm39) |
N94S |
probably benign |
Het |
| Gm5799 |
T |
G |
14: 43,782,088 (GRCm39) |
L87V |
probably damaging |
Het |
| Golga7b |
A |
T |
19: 42,251,886 (GRCm39) |
D44V |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,274,127 (GRCm39) |
S1416P |
probably damaging |
Het |
| Hoxa11 |
G |
A |
6: 52,222,681 (GRCm39) |
R7C |
probably damaging |
Het |
| Igkv14-126 |
A |
T |
6: 67,873,475 (GRCm39) |
T68S |
possibly damaging |
Het |
| Insyn2a |
T |
C |
7: 134,520,377 (GRCm39) |
D51G |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,305,934 (GRCm39) |
I164T |
probably damaging |
Het |
| Kif22 |
A |
G |
7: 126,628,131 (GRCm39) |
S540P |
probably damaging |
Het |
| Ldlr |
T |
A |
9: 21,643,077 (GRCm39) |
C34* |
probably null |
Het |
| Lrrtm4 |
T |
C |
6: 79,998,939 (GRCm39) |
L117P |
probably damaging |
Het |
| Mad2l1 |
G |
T |
6: 66,514,612 (GRCm39) |
G94C |
possibly damaging |
Het |
| Malrd1 |
C |
A |
2: 15,700,137 (GRCm39) |
H661Q |
probably damaging |
Het |
| Mical3 |
T |
A |
6: 120,993,796 (GRCm39) |
|
probably benign |
Het |
| Mipep |
T |
A |
14: 61,109,554 (GRCm39) |
W644R |
probably damaging |
Het |
| Mycl |
A |
G |
4: 122,893,713 (GRCm39) |
D171G |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,901,805 (GRCm39) |
F997L |
possibly damaging |
Het |
| Nagpa |
C |
T |
16: 5,021,613 (GRCm39) |
R46H |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,456,801 (GRCm39) |
Y629C |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,888,033 (GRCm39) |
E2164V |
probably damaging |
Het |
| Or52h1 |
A |
T |
7: 103,828,961 (GRCm39) |
V218D |
possibly damaging |
Het |
| Or5ac23 |
A |
G |
16: 59,149,785 (GRCm39) |
V29A |
possibly damaging |
Het |
| Or5w19 |
T |
C |
2: 87,698,904 (GRCm39) |
S190P |
possibly damaging |
Het |
| Or8k25 |
T |
C |
2: 86,243,551 (GRCm39) |
I282V |
probably damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,705,488 (GRCm39) |
E604G |
probably benign |
Het |
| Pcdhb7 |
G |
A |
18: 37,475,709 (GRCm39) |
V282I |
probably benign |
Het |
| Pcnx4 |
A |
G |
12: 72,603,648 (GRCm39) |
D523G |
possibly damaging |
Het |
| Pigx |
G |
A |
16: 31,903,404 (GRCm39) |
T219I |
probably damaging |
Het |
| Plch1 |
G |
T |
3: 63,648,210 (GRCm39) |
P399Q |
probably damaging |
Het |
| Pvrig-ps |
T |
A |
5: 138,340,537 (GRCm39) |
F74I |
possibly damaging |
Het |
| Rsrp1 |
T |
A |
4: 134,654,113 (GRCm39) |
I255K |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,107,962 (GRCm39) |
Y1588F |
possibly damaging |
Het |
| Serpina9 |
T |
A |
12: 103,967,666 (GRCm39) |
H243L |
probably damaging |
Het |
| Tapbp |
T |
C |
17: 34,138,956 (GRCm39) |
L41P |
probably damaging |
Het |
| Tbc1d16 |
T |
A |
11: 119,101,391 (GRCm39) |
K40* |
probably null |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 57,051,713 (GRCm39) |
E6G |
possibly damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,940,643 (GRCm39) |
V135A |
probably damaging |
Het |
| Tmem87a |
A |
T |
2: 120,222,656 (GRCm39) |
|
probably null |
Het |
| Tnrc18 |
T |
A |
5: 142,750,928 (GRCm39) |
K1217N |
unknown |
Het |
| Trim33 |
G |
A |
3: 103,244,848 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,567,997 (GRCm39) |
Y27632F |
probably benign |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,994 (GRCm39) |
D9E |
probably benign |
Het |
| Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
| Zfp655 |
T |
A |
5: 145,180,572 (GRCm39) |
F143L |
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 |
|
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 |
|
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'- CTGTGCACTAAACAGTTTTCTCAG -3'
(R):5'- TCACAGAGATGACGTCTTGACAG -3'
Sequencing Primer
(F):5'- CTCAGATTTTTAGCAATTTTCAGGC -3'
(R):5'- AGATGACGTCTTGACAGTCGGC -3'
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| Posted On |
2018-02-27 |
Incidental Mutation