Incidental Mutation 'R7325:Hace1'
ID |
568826 |
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 |
045419-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.545)
|
Stock # |
R7325 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
45453925-45588441 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 45465603 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 53
(S53*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
[ENSMUST00000131568]
|
AlphaFold |
Q3U0D9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037044
AA Change: S53*
|
SMART Domains |
Protein: ENSMUSP00000039206 Gene: ENSMUSG00000038822 AA Change: S53*
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
AA Change: S31*
|
SMART Domains |
Protein: ENSMUSP00000121196 Gene: ENSMUSG00000038822 AA Change: S31*
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 |
|
Meta Mutation Damage Score |
0.9752 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (62/62) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
A |
1: 25,571,711 (GRCm39) |
Q402L |
probably benign |
Het |
Afap1l1 |
T |
C |
18: 61,869,917 (GRCm39) |
T638A |
probably benign |
Het |
Agtr1a |
A |
C |
13: 30,565,890 (GRCm39) |
K318N |
possibly damaging |
Het |
Anks1b |
A |
G |
10: 90,777,294 (GRCm39) |
T1095A |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,559,637 (GRCm39) |
I207N |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,620,599 (GRCm39) |
L484P |
possibly damaging |
Het |
Astn2 |
C |
T |
4: 65,460,906 (GRCm39) |
S1076N |
probably benign |
Het |
Baat |
C |
A |
4: 49,490,213 (GRCm39) |
L290F |
probably benign |
Het |
Boll |
T |
C |
1: 55,343,757 (GRCm39) |
Y222C |
probably damaging |
Het |
Bphl |
A |
T |
13: 34,234,324 (GRCm39) |
I147F |
possibly damaging |
Het |
Cadps2 |
T |
G |
6: 23,409,934 (GRCm39) |
D766A |
unknown |
Het |
Cd300lb |
T |
A |
11: 114,815,858 (GRCm39) |
K210M |
probably damaging |
Het |
Cdan1 |
T |
C |
2: 120,555,185 (GRCm39) |
Q797R |
probably benign |
Het |
Celsr1 |
T |
A |
15: 85,917,209 (GRCm39) |
S255C |
probably damaging |
Het |
Cfap91 |
T |
A |
16: 38,141,963 (GRCm39) |
|
probably null |
Het |
Cip2a |
T |
A |
16: 48,826,184 (GRCm39) |
M417K |
probably benign |
Het |
Csmd1 |
G |
A |
8: 16,108,721 (GRCm39) |
S1894L |
probably damaging |
Het |
Dennd5b |
T |
A |
6: 148,922,068 (GRCm39) |
K815N |
probably benign |
Het |
Exd1 |
A |
G |
2: 119,350,620 (GRCm39) |
V547A |
probably benign |
Het |
Fbxo15 |
C |
T |
18: 84,977,243 (GRCm39) |
R52C |
probably damaging |
Het |
Fip1l1 |
A |
G |
5: 74,697,460 (GRCm39) |
|
probably null |
Het |
Flg2 |
T |
A |
3: 93,110,679 (GRCm39) |
N902K |
unknown |
Het |
Fyttd1 |
T |
A |
16: 32,704,618 (GRCm39) |
N76K |
probably benign |
Het |
Gins1 |
T |
A |
2: 150,758,086 (GRCm39) |
D57E |
probably benign |
Het |
Gm5565 |
G |
C |
5: 146,095,171 (GRCm39) |
|
probably null |
Het |
Gpsm2 |
T |
C |
3: 108,610,244 (GRCm39) |
Y72C |
probably damaging |
Het |
Insig2 |
A |
G |
1: 121,234,666 (GRCm39) |
V188A |
possibly damaging |
Het |
Ism1 |
T |
C |
2: 139,598,963 (GRCm39) |
V312A |
probably damaging |
Het |
Jmy |
A |
T |
13: 93,609,251 (GRCm39) |
Y353N |
probably damaging |
Het |
Maz |
A |
C |
7: 126,624,725 (GRCm39) |
V265G |
probably benign |
Het |
Mtmr14 |
T |
A |
6: 113,246,509 (GRCm39) |
I426N |
probably damaging |
Het |
Or1e34 |
C |
T |
11: 73,779,101 (GRCm39) |
M32I |
probably benign |
Het |
Or5b113 |
A |
G |
19: 13,342,001 (GRCm39) |
E3G |
probably benign |
Het |
Or8k22 |
A |
G |
2: 86,163,344 (GRCm39) |
S119P |
possibly damaging |
Het |
Pcdhac2 |
T |
A |
18: 37,278,413 (GRCm39) |
N464K |
probably damaging |
Het |
Pcdhb7 |
T |
A |
18: 37,476,440 (GRCm39) |
H525Q |
probably benign |
Het |
Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
Podn |
C |
T |
4: 107,874,899 (GRCm39) |
|
probably null |
Het |
Prim1 |
A |
G |
10: 127,858,788 (GRCm39) |
D232G |
probably null |
Het |
Prrt1 |
T |
A |
17: 34,851,161 (GRCm39) |
M283K |
possibly damaging |
Het |
Rgs9 |
A |
T |
11: 109,167,407 (GRCm39) |
I65N |
probably damaging |
Het |
Scgb2b26 |
C |
A |
7: 33,643,782 (GRCm39) |
V53L |
probably benign |
Het |
Shank2 |
C |
A |
7: 143,965,422 (GRCm39) |
P1010Q |
probably benign |
Het |
Slc12a4 |
C |
T |
8: 106,682,347 (GRCm39) |
G121S |
probably damaging |
Het |
Slc17a6 |
G |
T |
7: 51,294,766 (GRCm39) |
A158S |
probably damaging |
Het |
Slc9a9 |
C |
T |
9: 94,594,951 (GRCm39) |
H154Y |
probably benign |
Het |
Slco1a8 |
T |
C |
6: 141,934,951 (GRCm39) |
K379E |
probably damaging |
Het |
Slco2a1 |
T |
A |
9: 102,962,948 (GRCm39) |
|
probably null |
Het |
Snapc3 |
T |
C |
4: 83,353,507 (GRCm39) |
I182T |
probably benign |
Het |
Taok2 |
A |
G |
7: 126,470,260 (GRCm39) |
V856A |
probably benign |
Het |
Tep1 |
T |
A |
14: 51,103,495 (GRCm39) |
N265I |
probably damaging |
Het |
Tespa1 |
A |
T |
10: 130,197,910 (GRCm39) |
N311Y |
probably damaging |
Het |
Tpmt |
G |
A |
13: 47,194,960 (GRCm39) |
Q14* |
probably null |
Het |
Trim33 |
T |
C |
3: 103,228,952 (GRCm39) |
F353L |
possibly damaging |
Het |
Upp1 |
T |
C |
11: 9,084,743 (GRCm39) |
V154A |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,369,052 (GRCm39) |
I1747T |
|
Het |
Vmn1r47 |
T |
C |
6: 89,999,254 (GRCm39) |
S129P |
probably benign |
Het |
Vmn2r93 |
A |
G |
17: 18,524,249 (GRCm39) |
Y81C |
probably benign |
Het |
Ybx2 |
A |
T |
11: 69,831,181 (GRCm39) |
T259S |
probably benign |
Het |
Zfp536 |
T |
C |
7: 37,179,285 (GRCm39) |
T1107A |
probably benign |
Het |
Zfp583 |
C |
T |
7: 6,319,585 (GRCm39) |
A476T |
probably 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 |
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 |
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'- ACAGTGTTGTATTGACTGTCATTCTTC -3'
(R):5'- ACGCTAACAATTTATGAAGAGCACAG -3'
Sequencing Primer
(F):5'- CATTCTTCAGATAGACAACTGTTGG -3'
(R):5'- ACAGGACACGGCAGCCTTAG -3'
|
Posted On |
2019-09-13 |