Incidental Mutation 'R7661:Hace1'
ID |
591577 |
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 |
045736-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.485)
|
Stock # |
R7661 (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 G
at 45481649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 124
(V124G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
[ENSMUST00000131568]
|
AlphaFold |
Q3U0D9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037044
AA Change: V124G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039206 Gene: ENSMUSG00000038822 AA Change: V124G
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 |
possibly damaging
Transcript: ENSMUST00000131568
AA Change: V102G
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121196 Gene: ENSMUSG00000038822 AA Change: V102G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
96% (50/52) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110018I06Rik |
A |
T |
12: 107,455,215 (GRCm39) |
K100N |
unknown |
Het |
Abi3bp |
T |
A |
16: 56,453,263 (GRCm39) |
|
probably null |
Het |
Akr1c20 |
T |
C |
13: 4,558,218 (GRCm39) |
D210G |
probably benign |
Het |
Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
Ascc1 |
A |
C |
10: 59,885,629 (GRCm39) |
N227H |
probably damaging |
Het |
Atp5f1a |
G |
T |
18: 77,861,802 (GRCm39) |
A18S |
possibly damaging |
Het |
Bcl2l13 |
A |
G |
6: 120,842,558 (GRCm39) |
T84A |
possibly damaging |
Het |
Blmh |
T |
A |
11: 76,877,341 (GRCm39) |
V419D |
probably damaging |
Het |
Cacna1d |
G |
A |
14: 29,769,177 (GRCm39) |
P1918S |
probably benign |
Het |
Calr4 |
T |
C |
4: 109,110,951 (GRCm39) |
V339A |
probably benign |
Het |
Capza3 |
C |
A |
6: 139,987,498 (GRCm39) |
D32E |
probably benign |
Het |
Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
Cldn20 |
T |
A |
17: 3,583,133 (GRCm39) |
M102K |
possibly damaging |
Het |
Dennd1a |
T |
C |
2: 37,734,841 (GRCm39) |
Q479R |
probably benign |
Het |
Dpp10 |
A |
T |
1: 123,312,681 (GRCm39) |
I432N |
probably damaging |
Het |
Dst |
T |
A |
1: 34,295,434 (GRCm39) |
|
probably null |
Het |
Efcab3 |
T |
A |
11: 104,617,503 (GRCm39) |
D741E |
probably benign |
Het |
Fam135a |
C |
T |
1: 24,111,843 (GRCm39) |
|
probably null |
Het |
Fam47e |
C |
T |
5: 92,735,384 (GRCm39) |
L206F |
probably damaging |
Het |
Focad |
G |
A |
4: 88,221,772 (GRCm39) |
R714H |
unknown |
Het |
Ifit1bl2 |
T |
A |
19: 34,596,428 (GRCm39) |
Y396F |
probably damaging |
Het |
Il22ra2 |
A |
G |
10: 19,497,826 (GRCm39) |
I13M |
probably benign |
Het |
Kif21a |
A |
G |
15: 90,865,122 (GRCm39) |
F517L |
possibly damaging |
Het |
Lrrc4 |
T |
C |
6: 28,829,762 (GRCm39) |
T618A |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,691,229 (GRCm39) |
T952A |
probably benign |
Het |
Mindy3 |
A |
T |
2: 12,402,328 (GRCm39) |
I208K |
probably damaging |
Het |
Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
Mycbp2 |
A |
G |
14: 103,450,059 (GRCm39) |
I1744T |
probably damaging |
Het |
Nanog |
A |
T |
6: 122,690,431 (GRCm39) |
R279W |
probably damaging |
Het |
Ncoa2 |
T |
A |
1: 13,244,761 (GRCm39) |
T646S |
probably damaging |
Het |
Ndufa5 |
A |
G |
6: 24,518,724 (GRCm39) |
*117R |
probably null |
Het |
Nudt18 |
A |
T |
14: 70,817,276 (GRCm39) |
E293D |
probably benign |
Het |
Or1e22 |
A |
G |
11: 73,377,426 (GRCm39) |
S75P |
probably damaging |
Het |
Or51aa2 |
A |
T |
7: 103,187,826 (GRCm39) |
V205E |
probably damaging |
Het |
Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
Pigg |
G |
A |
5: 108,486,485 (GRCm39) |
V713I |
probably benign |
Het |
Pih1d2 |
T |
C |
9: 50,529,558 (GRCm39) |
|
probably null |
Het |
Ppp2r3d |
A |
G |
9: 124,442,696 (GRCm38) |
F17L |
|
Het |
Ptprk |
T |
C |
10: 28,342,036 (GRCm39) |
I481T |
probably benign |
Het |
Pygo2 |
T |
C |
3: 89,338,038 (GRCm39) |
|
probably null |
Het |
Raet1d |
T |
C |
10: 22,248,156 (GRCm39) |
S225P |
possibly damaging |
Het |
Rnf24 |
T |
C |
2: 131,164,135 (GRCm39) |
|
probably benign |
Het |
Ror1 |
A |
G |
4: 100,298,687 (GRCm39) |
S687G |
probably damaging |
Het |
Rsph9 |
A |
G |
17: 46,446,013 (GRCm39) |
S186P |
probably damaging |
Het |
Sash1 |
C |
T |
10: 8,605,155 (GRCm39) |
M1078I |
probably benign |
Het |
Scd4 |
C |
A |
19: 44,327,510 (GRCm39) |
D195E |
probably benign |
Het |
Spopfm3 |
C |
T |
3: 94,105,709 (GRCm39) |
T9I |
probably damaging |
Het |
Syn3 |
A |
G |
10: 85,904,940 (GRCm39) |
C348R |
probably damaging |
Het |
Uspl1 |
T |
C |
5: 149,151,827 (GRCm39) |
F1009S |
probably benign |
Het |
Vmn1r2 |
T |
A |
4: 3,172,149 (GRCm39) |
F23I |
probably benign |
Het |
Vmn1r257 |
A |
G |
7: 22,391,229 (GRCm39) |
S172P |
probably benign |
Het |
Vmn2r-ps158 |
T |
A |
7: 42,672,582 (GRCm39) |
N72K |
probably benign |
Het |
Zfp747l1 |
A |
T |
7: 126,984,135 (GRCm39) |
C322* |
probably null |
Het |
Zfp839 |
C |
T |
12: 110,835,226 (GRCm39) |
T827I |
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 |
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 |
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'- GCTATTCCATTTAGTTAGCCAAAGC -3'
(R):5'- GAGATGAACGAGGATATCACGTTTC -3'
Sequencing Primer
(F):5'- GGAGCTAGTTTGAAATTTTAGAGAGC -3'
(R):5'- CTTAATAAACTCGCTGTATACCTCAC -3'
|
Posted On |
2019-11-12 |