Incidental Mutation 'R8814:Hace1'
| ID |
672618 |
| 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 |
068649-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.449)
|
| Stock # |
R8814 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
45577829-45712345 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45652701 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 346
(Y346C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037044]
|
| AlphaFold |
Q3U0D9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037044
AA Change: Y346C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039206
Gene: ENSMUSG00000038822
AA Change: Y346C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brd7 |
A |
G |
8: 88,345,154 (GRCm38) |
V361A |
probably benign |
Het |
| C6 |
A |
T |
15: 4,792,784 (GRCm38) |
Q595L |
probably benign |
Het |
| Cacna2d3 |
T |
A |
14: 29,097,815 (GRCm38) |
Y532F |
probably damaging |
Het |
| Cep85l |
A |
T |
10: 53,348,969 (GRCm38) |
Y175N |
probably benign |
Het |
| Clca3a2 |
G |
T |
3: 144,797,764 (GRCm38) |
N808K |
probably benign |
Het |
| Clec2m |
T |
C |
6: 129,325,604 (GRCm38) |
|
probably benign |
Het |
| Cpsf4 |
T |
G |
5: 145,178,868 (GRCm38) |
S201R |
probably benign |
Het |
| Crispld2 |
A |
G |
8: 120,015,345 (GRCm38) |
H144R |
possibly damaging |
Het |
| Cyp1b1 |
T |
C |
17: 79,713,359 (GRCm38) |
E318G |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 156,052,243 (GRCm38) |
F47L |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,927,409 (GRCm38) |
D1873G |
probably damaging |
Het |
| Gm47995 |
A |
G |
1: 151,198,988 (GRCm38) |
M181V |
probably benign |
Het |
| Hemgn |
G |
T |
4: 46,400,717 (GRCm38) |
Q48K |
possibly damaging |
Het |
| Hhip |
T |
C |
8: 80,051,472 (GRCm38) |
D143G |
probably damaging |
Het |
| Ift74 |
C |
T |
4: 94,662,636 (GRCm38) |
Q342* |
probably null |
Het |
| Kng2 |
A |
T |
16: 23,004,011 (GRCm38) |
I197N |
probably benign |
Het |
| Lcat |
G |
A |
8: 105,941,970 (GRCm38) |
P167S |
probably damaging |
Het |
| Lmntd2 |
G |
A |
7: 141,210,084 (GRCm38) |
R672W |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,941,625 (GRCm38) |
L1037F |
possibly damaging |
Het |
| Msh4 |
A |
G |
3: 153,872,320 (GRCm38) |
S640P |
probably damaging |
Het |
| Mtcl2 |
C |
T |
2: 157,030,531 (GRCm38) |
W965* |
probably null |
Het |
| Mterf1b |
T |
C |
5: 4,197,456 (GRCm38) |
S366P |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,630,101 (GRCm38) |
C643S |
probably damaging |
Het |
| Olfr709-ps1 |
T |
A |
7: 106,926,818 (GRCm38) |
I214F |
probably damaging |
Het |
| Or1s2 |
T |
A |
19: 13,781,533 (GRCm38) |
I305N |
possibly damaging |
Het |
| Or52s6 |
A |
G |
7: 103,442,913 (GRCm38) |
V70A |
probably benign |
Het |
| Or5d37 |
T |
A |
2: 88,092,971 (GRCm38) |
I322F |
probably benign |
Het |
| Or5p61 |
T |
A |
7: 108,159,065 (GRCm38) |
K269N |
probably benign |
Het |
| Pask |
C |
A |
1: 93,320,585 (GRCm38) |
R998L |
probably benign |
Het |
| Pcdh8 |
A |
G |
14: 79,768,897 (GRCm38) |
L742P |
probably benign |
Het |
| Pheta1 |
G |
T |
5: 121,853,045 (GRCm38) |
V157L |
probably benign |
Het |
| Psma3 |
A |
G |
12: 70,978,806 (GRCm38) |
E32G |
probably benign |
Het |
| Samd11 |
T |
C |
4: 156,247,884 (GRCm38) |
E500G |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,294,092 (GRCm38) |
D305E |
probably benign |
Het |
| Serpinb6b |
A |
G |
13: 32,978,304 (GRCm38) |
H362R |
possibly damaging |
Het |
| Siglec1 |
G |
A |
2: 131,072,744 (GRCm38) |
T1484M |
probably damaging |
Het |
| Slfn8 |
A |
G |
11: 83,016,679 (GRCm38) |
V346A |
possibly damaging |
Het |
| Slitrk6 |
G |
C |
14: 110,749,938 (GRCm38) |
A779G |
probably benign |
Het |
| Sub1 |
A |
C |
15: 11,984,231 (GRCm38) |
V124G |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 56,196,592 (GRCm38) |
I277T |
possibly damaging |
Het |
| Tln2 |
C |
A |
9: 67,221,411 (GRCm38) |
E1465D |
possibly damaging |
Het |
| Trappc10 |
A |
G |
10: 78,202,919 (GRCm38) |
Y780H |
probably damaging |
Het |
| Trim28 |
T |
A |
7: 13,028,527 (GRCm38) |
N359K |
probably damaging |
Het |
| Tspan15 |
G |
A |
10: 62,188,056 (GRCm38) |
T281M |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,866,398 (GRCm38) |
N396D |
possibly damaging |
Het |
| Vmn1r84 |
A |
G |
7: 12,362,458 (GRCm38) |
S103P |
probably damaging |
Het |
| Vmn2r22 |
C |
G |
6: 123,637,830 (GRCm38) |
R267T |
probably damaging |
Het |
| Vmn2r7 |
A |
G |
3: 64,716,563 (GRCm38) |
I112T |
probably benign |
Het |
| Vmn2r70 |
T |
A |
7: 85,565,961 (GRCm38) |
I122F |
probably benign |
Het |
| Vmn2r79 |
C |
G |
7: 87,002,506 (GRCm38) |
T371S |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,576,650 (GRCm38) |
L1230P |
probably damaging |
Het |
| Zfp26 |
A |
T |
9: 20,438,434 (GRCm38) |
V278D |
probably benign |
Het |
|
| Other mutations in Hace1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00847:Hace1
|
APN |
10 |
45,672,357 (GRCm38) |
nonsense |
probably null |
|
|
IGL01456:Hace1
|
APN |
10 |
45,709,998 (GRCm38) |
splice site |
probably benign |
|
|
IGL02122:Hace1
|
APN |
10 |
45,618,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02217:Hace1
|
APN |
10 |
45,590,375 (GRCm38) |
splice site |
probably null |
|
|
IGL02493:Hace1
|
APN |
10 |
45,588,419 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02596:Hace1
|
APN |
10 |
45,700,640 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
IGL02619:Hace1
|
APN |
10 |
45,671,434 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03163:Hace1
|
APN |
10 |
45,672,605 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0609:Hace1
|
UTSW |
10 |
45,648,869 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0853:Hace1
|
UTSW |
10 |
45,648,683 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2038:Hace1
|
UTSW |
10 |
45,700,625 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2212:Hace1
|
UTSW |
10 |
45,648,675 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R2328:Hace1
|
UTSW |
10 |
45,648,945 (GRCm38) |
missense |
probably benign |
0.43 |
|
R2881:Hace1
|
UTSW |
10 |
45,671,134 (GRCm38) |
missense |
probably benign |
0.10 |
|
R3005:Hace1
|
UTSW |
10 |
45,648,863 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3414:Hace1
|
UTSW |
10 |
45,648,675 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R3930:Hace1
|
UTSW |
10 |
45,711,508 (GRCm38) |
missense |
probably benign |
0.37 |
|
R4014:Hace1
|
UTSW |
10 |
45,588,374 (GRCm38) |
splice site |
probably benign |
|
|
R4335:Hace1
|
UTSW |
10 |
45,709,961 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4547:Hace1
|
UTSW |
10 |
45,672,555 (GRCm38) |
splice site |
probably null |
|
|
R4812:Hace1
|
UTSW |
10 |
45,686,603 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4996:Hace1
|
UTSW |
10 |
45,649,950 (GRCm38) |
missense |
probably benign |
0.17 |
|
R5858:Hace1
|
UTSW |
10 |
45,711,525 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R5995:Hace1
|
UTSW |
10 |
45,670,391 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6049:Hace1
|
UTSW |
10 |
45,686,662 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6111:Hace1
|
UTSW |
10 |
45,589,510 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6195:Hace1
|
UTSW |
10 |
45,670,443 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R6216:Hace1
|
UTSW |
10 |
45,618,547 (GRCm38) |
missense |
probably benign |
|
|
R6233:Hace1
|
UTSW |
10 |
45,670,443 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R6237:Hace1
|
UTSW |
10 |
45,648,890 (GRCm38) |
missense |
probably benign |
|
|
R6467:Hace1
|
UTSW |
10 |
45,590,266 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6930:Hace1
|
UTSW |
10 |
45,618,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7325:Hace1
|
UTSW |
10 |
45,589,507 (GRCm38) |
nonsense |
probably null |
|
|
R7401:Hace1
|
UTSW |
10 |
45,670,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7426:Hace1
|
UTSW |
10 |
45,605,540 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7471:Hace1
|
UTSW |
10 |
45,700,979 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7533:Hace1
|
UTSW |
10 |
45,711,474 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7661:Hace1
|
UTSW |
10 |
45,605,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7873:Hace1
|
UTSW |
10 |
45,672,787 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7938:Hace1
|
UTSW |
10 |
45,686,696 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7995:Hace1
|
UTSW |
10 |
45,589,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8017:Hace1
|
UTSW |
10 |
45,638,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8019:Hace1
|
UTSW |
10 |
45,638,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8022:Hace1
|
UTSW |
10 |
45,700,970 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8292:Hace1
|
UTSW |
10 |
45,711,461 (GRCm38) |
nonsense |
probably null |
|
|
R8717:Hace1
|
UTSW |
10 |
45,605,598 (GRCm38) |
missense |
unknown |
|
|
R8757:Hace1
|
UTSW |
10 |
45,670,443 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R8823:Hace1
|
UTSW |
10 |
45,648,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8898:Hace1
|
UTSW |
10 |
45,700,670 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9143:Hace1
|
UTSW |
10 |
45,686,668 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9297:Hace1
|
UTSW |
10 |
45,652,673 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9318:Hace1
|
UTSW |
10 |
45,652,673 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9365:Hace1
|
UTSW |
10 |
45,709,996 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9492:Hace1
|
UTSW |
10 |
45,671,134 (GRCm38) |
missense |
probably benign |
0.10 |
|
R9644:Hace1
|
UTSW |
10 |
45,649,905 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9656:Hace1
|
UTSW |
10 |
45,671,449 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9762:Hace1
|
UTSW |
10 |
45,648,918 (GRCm38) |
missense |
probably benign |
0.03 |
|
Z1176:Hace1
|
UTSW |
10 |
45,686,662 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGAGACAGTTGGTTAGTGAAC -3'
(R):5'- AGCACGAATGGGATTGATTTATGTG -3'
Sequencing Primer
(F):5'- GGTTCCACCTAATGTGTTC -3'
(R):5'- TGTAAGAAAAACTTGAAAAGCTTACC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation