Incidental Mutation 'R3930:Hace1'
| ID |
308427 |
| 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 |
040917-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
R3930 (G1)
|
| Quality Score |
182 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
45453925-45588441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45587604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 901
(C901Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037044
AA Change: C901Y
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: C901Y
| 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 |
unknown
Transcript: ENSMUST00000131406
AA Change: C291Y
|
| SMART Domains |
Protein: ENSMUSP00000118554
Gene: ENSMUSG00000038822
AA Change: C291Y
| Domain | Start | End | E-Value | Type |
|---|
|
HECTc
|
7 |
300 |
2.63e-96 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150511
AA Change: C320Y
|
| SMART Domains |
Protein: ENSMUSP00000117985
Gene: ENSMUSG00000038822
AA Change: C320Y
| Domain | Start | End | E-Value | Type |
|---|
|
HECTc
|
55 |
329 |
1.76e-74 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155368
|
| Meta Mutation Damage Score |
0.0703 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (58/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
C |
T |
4: 144,396,698 (GRCm39) |
E345K |
probably damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,057,242 (GRCm39) |
N400S |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Crhr1 |
T |
A |
11: 104,044,377 (GRCm39) |
S22T |
probably benign |
Het |
| Cyp4a10 |
G |
T |
4: 115,381,980 (GRCm39) |
V221L |
probably benign |
Het |
| D1Pas1 |
G |
T |
1: 186,700,477 (GRCm39) |
W135C |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,285,701 (GRCm39) |
L620P |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
T |
C |
1: 161,911,699 (GRCm39) |
D66G |
probably damaging |
Het |
| Fzd10 |
G |
A |
5: 128,679,476 (GRCm39) |
V399M |
probably damaging |
Het |
| Gm10801 |
T |
A |
2: 98,494,361 (GRCm39) |
I146N |
possibly damaging |
Het |
| Gm525 |
T |
A |
11: 88,965,830 (GRCm39) |
|
probably null |
Het |
| Gpr37l1 |
T |
C |
1: 135,089,100 (GRCm39) |
I322V |
probably benign |
Het |
| Grid2ip |
T |
G |
5: 143,371,794 (GRCm39) |
S679R |
probably damaging |
Het |
| Gyg1 |
A |
T |
3: 20,209,189 (GRCm39) |
S15T |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hp1bp3 |
C |
T |
4: 137,949,018 (GRCm39) |
A27V |
probably benign |
Het |
| Hsf5 |
A |
G |
11: 87,522,508 (GRCm39) |
Y367C |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,924,716 (GRCm39) |
I1034V |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,371,802 (GRCm39) |
T1159A |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrrc14 |
T |
C |
15: 76,597,765 (GRCm39) |
V165A |
probably benign |
Het |
| Lrrc45 |
C |
T |
11: 120,609,503 (GRCm39) |
A422V |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,651,664 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
T |
C |
17: 12,454,880 (GRCm39) |
H1370R |
possibly damaging |
Het |
| Mpo |
A |
G |
11: 87,691,866 (GRCm39) |
Y433C |
probably damaging |
Het |
| Nfkbil1 |
G |
T |
17: 35,439,932 (GRCm39) |
Q194K |
probably benign |
Het |
| Nin |
C |
T |
12: 70,125,016 (GRCm39) |
G102E |
probably damaging |
Het |
| Nmt1 |
T |
C |
11: 102,943,059 (GRCm39) |
V138A |
probably benign |
Het |
| Optc |
T |
A |
1: 133,828,920 (GRCm39) |
R176* |
probably null |
Het |
| Or10aa3 |
A |
T |
1: 173,878,076 (GRCm39) |
I46F |
probably damaging |
Het |
| Or4c110 |
A |
G |
2: 88,832,377 (GRCm39) |
F85S |
probably benign |
Het |
| Or52ae9 |
A |
C |
7: 103,389,794 (GRCm39) |
Y218D |
probably damaging |
Het |
| Or6n2 |
T |
A |
1: 173,897,147 (GRCm39) |
F94L |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,066,601 (GRCm39) |
N72K |
possibly damaging |
Het |
| Plxna2 |
G |
A |
1: 194,477,218 (GRCm39) |
A1243T |
probably benign |
Het |
| Rin1 |
G |
T |
19: 5,103,002 (GRCm39) |
L430F |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,070,944 (GRCm39) |
S37T |
possibly damaging |
Het |
| Rrp36 |
G |
T |
17: 46,983,732 (GRCm39) |
Q27K |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
| Sfrp5 |
T |
G |
19: 42,190,257 (GRCm39) |
Y65S |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,023,820 (GRCm39) |
L472I |
probably benign |
Het |
| Slc35d3 |
T |
C |
10: 19,724,605 (GRCm39) |
E417G |
probably damaging |
Het |
| Sumf2 |
A |
G |
5: 129,878,820 (GRCm39) |
D52G |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,781,447 (GRCm39) |
N801S |
possibly damaging |
Het |
| Taf7l2 |
G |
T |
10: 115,948,540 (GRCm39) |
Q329K |
possibly damaging |
Het |
| Tcstv2c |
G |
A |
13: 120,616,368 (GRCm39) |
C69Y |
probably damaging |
Het |
| Tmem38b |
T |
C |
4: 53,854,398 (GRCm39) |
F210S |
probably damaging |
Het |
| Tnks |
T |
A |
8: 35,407,966 (GRCm39) |
H254L |
probably damaging |
Het |
| Trappc10 |
A |
T |
10: 78,046,237 (GRCm39) |
V451E |
probably benign |
Het |
| Trim43a |
A |
T |
9: 88,465,131 (GRCm39) |
I153F |
probably benign |
Het |
| Tulp1 |
T |
C |
17: 28,572,683 (GRCm39) |
N213S |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,746,951 (GRCm39) |
D830G |
probably benign |
Het |
| Uqcc3 |
C |
T |
19: 8,858,069 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
A |
6: 124,002,938 (GRCm39) |
M116K |
probably benign |
Het |
| Zscan12 |
A |
G |
13: 21,552,800 (GRCm39) |
Q208R |
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 |
|
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 |
|
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'- GGAGCTGCAGTTCTTCTTAAACATC -3'
(R):5'- TCACAGCAGAGGTGGAATGC -3'
Sequencing Primer
(F):5'- AAACATCACTTGAGGGTTTTCC -3'
(R):5'- CATCAGTCGCAGATGAGT -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation