Incidental Mutation 'IGL02310:Hic2'
| ID |
287770 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hic2
|
| Ensembl Gene |
ENSMUSG00000050240 |
| Gene Name |
hypermethylated in cancer 2 |
| Synonyms |
HRG22 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.771)
|
| Stock # |
IGL02310
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17051451-17081294 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 17075621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 150
(R150Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090190]
[ENSMUST00000115698]
[ENSMUST00000232082]
|
| AlphaFold |
Q9JLZ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090190
AA Change: R150Q
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087656
Gene: ENSMUSG00000050240
AA Change: R150Q
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
46 |
143 |
6.83e-23 |
SMART |
|
low complexity region
|
213 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
423 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
446 |
468 |
2.49e-1 |
SMART |
|
low complexity region
|
477 |
493 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
509 |
531 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
537 |
559 |
2.3e-5 |
SMART |
|
ZnF_C2H2
|
565 |
587 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
593 |
615 |
1.69e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115698
AA Change: R150Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111362
Gene: ENSMUSG00000050240
AA Change: R150Q
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
46 |
143 |
6.83e-23 |
SMART |
|
low complexity region
|
213 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
423 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
446 |
468 |
2.49e-1 |
SMART |
|
low complexity region
|
477 |
493 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
509 |
531 |
8.47e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181077
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232082
AA Change: R150Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232426
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous inactivation of this gene results in embryonic lethality. A subset of mice heterozygous for a knock-out allele exhibit prenatal lethality and cardiac defects including a ventricular septal defect with overriding aortic valve, and thin myocardial and trabecular layers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
T |
A |
10: 88,859,740 (GRCm39) |
K382* |
probably null |
Het |
| Apoc2l |
A |
G |
7: 19,405,688 (GRCm39) |
*98Q |
probably null |
Het |
| Bcl9l |
A |
G |
9: 44,420,602 (GRCm39) |
Y1299C |
probably damaging |
Het |
| Best1 |
T |
A |
19: 9,966,516 (GRCm39) |
H357L |
probably benign |
Het |
| Cdc26 |
T |
C |
4: 62,313,266 (GRCm39) |
|
probably benign |
Het |
| Esyt2 |
C |
T |
12: 116,329,541 (GRCm39) |
L700F |
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,258,553 (GRCm39) |
Y138C |
probably damaging |
Het |
| Gbp6 |
T |
C |
5: 105,438,841 (GRCm39) |
N16D |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,963,075 (GRCm39) |
D812G |
probably null |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Klhl36 |
T |
A |
8: 120,596,356 (GRCm39) |
|
probably null |
Het |
| Matcap2 |
A |
G |
9: 22,335,724 (GRCm39) |
Y114C |
probably benign |
Het |
| Mug2 |
C |
T |
6: 122,036,082 (GRCm39) |
|
probably benign |
Het |
| Or9s14 |
T |
C |
1: 92,535,787 (GRCm39) |
V76A |
possibly damaging |
Het |
| Pdcl2 |
A |
T |
5: 76,465,728 (GRCm39) |
I116N |
probably damaging |
Het |
| Pip4p1 |
T |
C |
14: 51,166,667 (GRCm39) |
T187A |
possibly damaging |
Het |
| Pkn2 |
A |
G |
3: 142,517,341 (GRCm39) |
I482T |
probably damaging |
Het |
| Prss53 |
T |
G |
7: 127,485,786 (GRCm39) |
D518A |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,787,484 (GRCm39) |
D1093G |
probably benign |
Het |
| Tmcc2 |
A |
T |
1: 132,286,645 (GRCm39) |
I602N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,619,035 (GRCm39) |
V16115I |
possibly damaging |
Het |
| Zbtb21 |
G |
T |
16: 97,752,990 (GRCm39) |
T459K |
possibly damaging |
Het |
|
| Other mutations in Hic2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01821:Hic2
|
APN |
16 |
17,075,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02021:Hic2
|
APN |
16 |
17,076,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03049:Hic2
|
APN |
16 |
17,075,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0256:Hic2
|
UTSW |
16 |
17,075,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1433:Hic2
|
UTSW |
16 |
17,076,686 (GRCm39) |
missense |
probably benign |
|
|
R1771:Hic2
|
UTSW |
16 |
17,076,578 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1774:Hic2
|
UTSW |
16 |
17,076,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Hic2
|
UTSW |
16 |
17,076,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2207:Hic2
|
UTSW |
16 |
17,075,324 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5027:Hic2
|
UTSW |
16 |
17,076,611 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5344:Hic2
|
UTSW |
16 |
17,075,712 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7154:Hic2
|
UTSW |
16 |
17,076,806 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7423:Hic2
|
UTSW |
16 |
17,075,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Hic2
|
UTSW |
16 |
17,076,979 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8082:Hic2
|
UTSW |
16 |
17,076,563 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8154:Hic2
|
UTSW |
16 |
17,076,344 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8241:Hic2
|
UTSW |
16 |
17,076,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8511:Hic2
|
UTSW |
16 |
17,075,874 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9514:Hic2
|
UTSW |
16 |
17,076,293 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Posted On |
2015-04-16 |
Incidental Mutation