Incidental Mutation 'R8292:Hace1'
| ID |
638751 |
| 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 |
067782-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
R8292 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
45453925-45588441 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to G
at 45587557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 885
(Y885*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037044
AA Change: Y885*
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: Y885*
| 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: ENSMUST00000131406
AA Change: Y275*
|
| SMART Domains |
Protein: ENSMUSP00000118554
Gene: ENSMUSG00000038822
AA Change: Y275*
| Domain | Start | End | E-Value | Type |
|---|
|
HECTc
|
7 |
300 |
2.63e-96 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150511
AA Change: Y304*
|
| SMART Domains |
Protein: ENSMUSP00000117985
Gene: ENSMUSG00000038822
AA Change: Y304*
| Domain | Start | End | E-Value | Type |
|---|
|
HECTc
|
55 |
329 |
1.76e-74 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,338,555 (GRCm39) |
|
probably null |
Het |
| Akirin2 |
T |
C |
4: 34,566,007 (GRCm39) |
|
probably null |
Het |
| Akr1c14 |
A |
G |
13: 4,130,995 (GRCm39) |
D229G |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,227,194 (GRCm39) |
I1382V |
probably benign |
Het |
| Bcas3 |
C |
A |
11: 85,348,729 (GRCm39) |
A207D |
probably damaging |
Het |
| Bcl2l10 |
T |
C |
9: 75,255,160 (GRCm39) |
|
probably benign |
Het |
| Cdc42 |
T |
C |
4: 137,063,384 (GRCm39) |
T3A |
probably benign |
Het |
| Celsr1 |
C |
A |
15: 85,791,819 (GRCm39) |
W2594L |
possibly damaging |
Het |
| Chrna6 |
A |
T |
8: 27,896,754 (GRCm39) |
H374Q |
probably benign |
Het |
| Cibar1 |
T |
G |
4: 12,153,963 (GRCm39) |
T330P |
possibly damaging |
Het |
| Clcnka |
G |
A |
4: 141,125,272 (GRCm39) |
R30* |
probably null |
Het |
| Clptm1l |
A |
T |
13: 73,765,854 (GRCm39) |
H464L |
probably damaging |
Het |
| Col6a4 |
A |
T |
9: 105,954,076 (GRCm39) |
M421K |
probably benign |
Het |
| Crybg2 |
T |
C |
4: 133,802,842 (GRCm39) |
S873P |
probably damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,621,989 (GRCm39) |
V114A |
probably benign |
Het |
| Etv6 |
T |
C |
6: 134,225,509 (GRCm39) |
C247R |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,456,350 (GRCm39) |
L11S |
probably damaging |
Het |
| Gbp2 |
G |
A |
3: 142,329,584 (GRCm39) |
V44M |
probably damaging |
Het |
| Get4 |
A |
G |
5: 139,248,686 (GRCm39) |
D99G |
probably null |
Het |
| Glcci1 |
G |
A |
6: 8,558,549 (GRCm39) |
R212H |
probably damaging |
Het |
| Gm14295 |
T |
A |
2: 176,501,351 (GRCm39) |
F280L |
probably damaging |
Het |
| Gm5407 |
T |
A |
16: 49,117,550 (GRCm39) |
N70Y |
noncoding transcript |
Het |
| Hectd4 |
G |
A |
5: 121,455,288 (GRCm39) |
R644Q |
possibly damaging |
Het |
| Impg2 |
A |
T |
16: 56,080,989 (GRCm39) |
E931V |
probably damaging |
Het |
| Kif5c |
A |
T |
2: 49,625,497 (GRCm39) |
Y589F |
probably benign |
Het |
| Krr1 |
T |
A |
10: 111,813,021 (GRCm39) |
V132E |
possibly damaging |
Het |
| Luzp1 |
T |
G |
4: 136,269,764 (GRCm39) |
D662E |
probably benign |
Het |
| Mc4r |
A |
T |
18: 66,993,082 (GRCm39) |
Y10* |
probably null |
Het |
| Mfng |
T |
C |
15: 78,657,370 (GRCm39) |
I35V |
probably benign |
Het |
| Mprip |
T |
A |
11: 59,650,340 (GRCm39) |
I1348K |
probably benign |
Het |
| Mrgprb3 |
G |
T |
7: 48,293,255 (GRCm39) |
Q99K |
probably benign |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,554 (GRCm39) |
S125T |
probably damaging |
Het |
| Mrgprg |
A |
T |
7: 143,318,656 (GRCm39) |
M152K |
probably benign |
Het |
| Muc5ac |
A |
C |
7: 141,363,000 (GRCm39) |
I2104L |
unknown |
Het |
| Myom2 |
A |
G |
8: 15,182,888 (GRCm39) |
I1442V |
probably benign |
Het |
| Nell1 |
T |
C |
7: 49,907,995 (GRCm39) |
C385R |
probably damaging |
Het |
| Nid2 |
T |
G |
14: 19,818,346 (GRCm39) |
V280G |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,643,086 (GRCm39) |
M490K |
possibly damaging |
Het |
| Prr12 |
A |
G |
7: 44,684,112 (GRCm39) |
F1643L |
probably damaging |
Het |
| Psg16 |
G |
A |
7: 16,827,701 (GRCm39) |
G128D |
probably damaging |
Het |
| Racgap1 |
A |
T |
15: 99,520,127 (GRCm39) |
L595* |
probably null |
Het |
| Rbbp8 |
T |
C |
18: 11,838,769 (GRCm39) |
V150A |
probably benign |
Het |
| Rbbp9 |
T |
C |
2: 144,390,017 (GRCm39) |
T49A |
probably benign |
Het |
| Rbm20 |
C |
A |
19: 53,839,930 (GRCm39) |
T973K |
possibly damaging |
Het |
| Robo1 |
A |
T |
16: 72,769,420 (GRCm39) |
I582F |
possibly damaging |
Het |
| Rps6ka5 |
A |
T |
12: 100,644,791 (GRCm39) |
V53D |
possibly damaging |
Het |
| Slc35f6 |
G |
T |
5: 30,813,375 (GRCm39) |
V156L |
probably benign |
Het |
| Smpd3 |
T |
C |
8: 106,991,422 (GRCm39) |
H377R |
probably benign |
Het |
| Son |
G |
A |
16: 91,453,545 (GRCm39) |
S764N |
possibly damaging |
Het |
| Srgn |
A |
T |
10: 62,343,447 (GRCm39) |
V16D |
possibly damaging |
Het |
| Tex14 |
G |
A |
11: 87,388,664 (GRCm39) |
R297Q |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,557,142 (GRCm39) |
V1194A |
probably benign |
Het |
| Tlr6 |
A |
C |
5: 65,111,134 (GRCm39) |
L591R |
probably damaging |
Het |
| Tmem143 |
A |
G |
7: 45,558,964 (GRCm39) |
K302R |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,371,123 (GRCm39) |
Y555C |
probably damaging |
Het |
| Usp32 |
T |
A |
11: 84,968,227 (GRCm39) |
K145N |
probably damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,726,878 (GRCm39) |
Y486C |
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 |
|
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 |
|
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'- GCTCATTTGCATTCTGGGAG -3'
(R):5'- TTTAAGCAGGCACTCTCTGC -3'
Sequencing Primer
(F):5'- GAGGAGCTGCAGTTCTTCTTAAAC -3'
(R):5'- ACTCTCTGCCTGTGGGTCG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation