Incidental Mutation 'R6216:Hace1'
ID |
503727 |
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 |
044349-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.545)
|
Stock # |
R6216 (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 45494643 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 151
(V151A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
AlphaFold |
Q3U0D9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037044
AA Change: V151A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000039206 Gene: ENSMUSG00000038822 AA Change: V151A
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
97% (67/69) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
T |
C |
9: 57,164,910 (GRCm39) |
D488G |
probably benign |
Het |
Adgrv1 |
C |
A |
13: 81,672,590 (GRCm39) |
|
probably null |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Alkbh3 |
G |
A |
2: 93,838,881 (GRCm39) |
|
probably benign |
Het |
Ankrd22 |
A |
T |
19: 34,101,569 (GRCm39) |
|
probably null |
Het |
Anks1b |
A |
G |
10: 90,096,618 (GRCm39) |
D425G |
probably damaging |
Het |
Arid2 |
A |
G |
15: 96,254,790 (GRCm39) |
D212G |
probably benign |
Het |
Bbx |
A |
T |
16: 50,071,751 (GRCm39) |
S225T |
probably benign |
Het |
Bivm |
T |
A |
1: 44,166,028 (GRCm39) |
|
probably null |
Het |
Bpifb3 |
A |
G |
2: 153,767,773 (GRCm39) |
Y282C |
probably benign |
Het |
Cacna1h |
A |
T |
17: 25,597,793 (GRCm39) |
I1767N |
probably damaging |
Het |
Ccdc28a |
G |
T |
10: 18,100,719 (GRCm39) |
S36* |
probably null |
Het |
Ccser2 |
A |
G |
14: 36,662,465 (GRCm39) |
S240P |
probably damaging |
Het |
Ceacam1 |
A |
T |
7: 25,171,421 (GRCm39) |
S348T |
probably benign |
Het |
Ddx49 |
C |
T |
8: 70,749,934 (GRCm39) |
G161D |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,193,864 (GRCm39) |
E353G |
possibly damaging |
Het |
Dnaaf6rt |
A |
T |
1: 31,262,432 (GRCm39) |
D138V |
probably damaging |
Het |
Etv2 |
A |
G |
7: 30,334,036 (GRCm39) |
|
probably null |
Het |
Extl1 |
T |
C |
4: 134,090,441 (GRCm39) |
T345A |
probably benign |
Het |
Fam163a |
A |
T |
1: 155,954,741 (GRCm39) |
S137T |
probably benign |
Het |
Fermt2 |
A |
T |
14: 45,697,338 (GRCm39) |
M671K |
possibly damaging |
Het |
Fsd1l |
T |
C |
4: 53,694,742 (GRCm39) |
C388R |
probably damaging |
Het |
Galnt18 |
A |
C |
7: 111,112,757 (GRCm39) |
V470G |
probably benign |
Het |
Grin2b |
T |
A |
6: 135,749,397 (GRCm39) |
I602F |
probably damaging |
Het |
Gucy1b1 |
G |
T |
3: 81,954,020 (GRCm39) |
|
probably null |
Het |
Hadhb |
T |
A |
5: 30,379,929 (GRCm39) |
D258E |
probably benign |
Het |
Heatr1 |
C |
T |
13: 12,447,545 (GRCm39) |
T1746I |
probably benign |
Het |
Hrnr |
T |
C |
3: 93,239,469 (GRCm39) |
S3236P |
unknown |
Het |
Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
Kiz |
C |
A |
2: 146,731,417 (GRCm39) |
D302E |
probably damaging |
Het |
Kng2 |
A |
T |
16: 22,806,343 (GRCm39) |
W619R |
probably damaging |
Het |
Mfap3l |
C |
A |
8: 61,124,841 (GRCm39) |
T361K |
probably damaging |
Het |
Mlec |
T |
C |
5: 115,288,376 (GRCm39) |
H160R |
probably benign |
Het |
Myo16 |
T |
C |
8: 10,365,494 (GRCm39) |
L89P |
probably benign |
Het |
Neb |
T |
C |
2: 52,114,564 (GRCm39) |
I4232V |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,302,433 (GRCm39) |
I334V |
possibly damaging |
Het |
Nipbl |
A |
C |
15: 8,347,867 (GRCm39) |
F1942V |
probably damaging |
Het |
Or2ag17 |
A |
T |
7: 106,389,665 (GRCm39) |
I181N |
probably benign |
Het |
Or4a70 |
C |
A |
2: 89,324,066 (GRCm39) |
V197F |
probably damaging |
Het |
Or4c11c |
T |
C |
2: 88,661,655 (GRCm39) |
S65P |
probably damaging |
Het |
Or51a10 |
A |
G |
7: 103,698,902 (GRCm39) |
Y220H |
probably damaging |
Het |
Pabpc2 |
G |
T |
18: 39,907,772 (GRCm39) |
A346S |
probably damaging |
Het |
Paxip1 |
T |
C |
5: 27,971,171 (GRCm39) |
T393A |
unknown |
Het |
Pcdhgb5 |
A |
T |
18: 37,864,981 (GRCm39) |
T259S |
probably benign |
Het |
Pfkp |
A |
T |
13: 6,669,224 (GRCm39) |
L253H |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,215,869 (GRCm39) |
D1428G |
probably benign |
Het |
Pkd1l2 |
T |
G |
8: 117,808,209 (GRCm39) |
D105A |
probably damaging |
Het |
Pou2f1 |
G |
T |
1: 165,707,889 (GRCm39) |
|
probably benign |
Het |
Ppfia4 |
T |
C |
1: 134,256,921 (GRCm39) |
E100G |
probably damaging |
Het |
Ppp1r15a |
G |
T |
7: 45,173,446 (GRCm39) |
T454K |
probably damaging |
Het |
Prpsap1 |
A |
T |
11: 116,362,239 (GRCm39) |
I381N |
probably damaging |
Het |
Ptx3 |
T |
A |
3: 66,132,265 (GRCm39) |
V262E |
probably damaging |
Het |
Rab21 |
A |
T |
10: 115,130,831 (GRCm39) |
H158Q |
probably benign |
Het |
Rasa2 |
A |
G |
9: 96,426,357 (GRCm39) |
S830P |
probably damaging |
Het |
Rdh1 |
G |
A |
10: 127,600,622 (GRCm39) |
S215N |
probably benign |
Het |
Rhot1 |
G |
A |
11: 80,141,885 (GRCm39) |
R463H |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
Selenom |
A |
T |
11: 3,464,915 (GRCm39) |
|
probably benign |
Het |
Selenop |
T |
C |
15: 3,308,947 (GRCm39) |
C300R |
probably damaging |
Het |
Skint1 |
T |
A |
4: 111,878,679 (GRCm39) |
S204T |
probably benign |
Het |
Ss18l1 |
A |
G |
2: 179,703,706 (GRCm39) |
N313S |
unknown |
Het |
Sycp2l |
A |
G |
13: 41,295,200 (GRCm39) |
D289G |
probably damaging |
Het |
Terf1 |
C |
T |
1: 15,889,221 (GRCm39) |
H188Y |
probably benign |
Het |
Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
Trdn |
A |
G |
10: 33,181,065 (GRCm39) |
T357A |
probably damaging |
Het |
Trip11 |
A |
C |
12: 101,856,859 (GRCm39) |
M401R |
probably benign |
Het |
Ubald2 |
A |
C |
11: 116,325,211 (GRCm39) |
D26A |
probably benign |
Het |
Ube2w |
C |
G |
1: 16,689,508 (GRCm39) |
|
probably benign |
Het |
Vmn2r101 |
T |
A |
17: 19,811,267 (GRCm39) |
S450R |
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 |
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'- TCTCATGTAAAAGCACGGAAAAGC -3'
(R):5'- CCAGATAGAATGCTCATCACAAGTC -3'
Sequencing Primer
(F):5'- TAAAAGCACGGAAAAGCTATTACAG -3'
(R):5'- TAGAATGCTCATCACAAGTCCATAC -3'
|
Posted On |
2018-02-27 |