Incidental Mutation 'IGL03049:Hic2'
| ID |
408996 |
| 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 # |
IGL03049
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17051451-17081294 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17075800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 210
(S210G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090190]
[ENSMUST00000115698]
[ENSMUST00000232082]
|
| AlphaFold |
Q9JLZ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090190
AA Change: S210G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087656
Gene: ENSMUSG00000050240
AA Change: S210G
| 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 benign
Transcript: ENSMUST00000115698
AA Change: S210G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000111362
Gene: ENSMUSG00000050240
AA Change: S210G
| 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 benign
Transcript: ENSMUST00000232082
AA Change: S210G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef19 |
A |
G |
4: 140,981,627 (GRCm39) |
H645R |
probably damaging |
Het |
| Asic5 |
A |
G |
3: 81,904,256 (GRCm39) |
|
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,789,845 (GRCm39) |
F424L |
probably damaging |
Het |
| Clca4a |
A |
T |
3: 144,676,516 (GRCm39) |
|
probably benign |
Het |
| Eif3k |
A |
G |
7: 28,670,858 (GRCm39) |
S178P |
possibly damaging |
Het |
| Elp2 |
C |
T |
18: 24,764,516 (GRCm39) |
T621I |
probably benign |
Het |
| Exoc3l4 |
T |
C |
12: 111,389,835 (GRCm39) |
S137P |
probably damaging |
Het |
| Gm14393 |
C |
A |
2: 174,903,581 (GRCm39) |
G109C |
probably damaging |
Het |
| Gp2 |
A |
G |
7: 119,049,517 (GRCm39) |
V340A |
possibly damaging |
Het |
| Lcn3 |
T |
A |
2: 25,655,586 (GRCm39) |
M1K |
probably null |
Het |
| Ldlr |
A |
G |
9: 21,657,115 (GRCm39) |
E692G |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,182,414 (GRCm39) |
N587S |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 88,015,937 (GRCm39) |
F523S |
probably damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,505,060 (GRCm39) |
I1185N |
probably damaging |
Het |
| Ncoa6 |
T |
A |
2: 155,260,934 (GRCm39) |
K519N |
probably damaging |
Het |
| Or4c103 |
C |
T |
2: 88,513,834 (GRCm39) |
V81M |
possibly damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,298 (GRCm39) |
I146F |
probably damaging |
Het |
| Or7c70 |
T |
A |
10: 78,683,356 (GRCm39) |
H131L |
possibly damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,799,663 (GRCm39) |
T705A |
probably benign |
Het |
| Ripor1 |
A |
G |
8: 106,342,079 (GRCm39) |
D119G |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,495,056 (GRCm39) |
V395A |
probably damaging |
Het |
| Slc18b1 |
T |
C |
10: 23,698,844 (GRCm39) |
V338A |
probably benign |
Het |
| Usp10 |
A |
G |
8: 120,683,366 (GRCm39) |
T746A |
probably benign |
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 |
|
IGL02310:Hic2
|
APN |
16 |
17,075,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation