Incidental Mutation 'IGL01821:Hic2'
| ID |
154542 |
| 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: 0.759)
|
| Stock # |
IGL01821
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17051451-17081294 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17075695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 175
(F175L)
|
| 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: F175L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000087656
Gene: ENSMUSG00000050240
AA Change: F175L
| 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: F175L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000111362
Gene: ENSMUSG00000050240
AA Change: F175L
| 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: F175L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,917,142 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
G |
19: 8,989,482 (GRCm39) |
I3589V |
probably benign |
Het |
| Arhgdia |
A |
T |
11: 120,471,031 (GRCm39) |
L56Q |
probably damaging |
Het |
| Camk2b |
C |
T |
11: 5,947,890 (GRCm39) |
D112N |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,771,699 (GRCm39) |
V664A |
probably benign |
Het |
| Gstm2 |
T |
C |
3: 107,892,369 (GRCm39) |
D119G |
possibly damaging |
Het |
| Ifi214 |
T |
C |
1: 173,356,891 (GRCm39) |
I71V |
probably damaging |
Het |
| Igkv17-121 |
G |
A |
6: 68,013,848 (GRCm39) |
C16Y |
unknown |
Het |
| Inpp4a |
T |
C |
1: 37,416,798 (GRCm39) |
S435P |
probably damaging |
Het |
| Irgm1 |
A |
G |
11: 48,757,353 (GRCm39) |
S153P |
probably damaging |
Het |
| Lactb |
A |
T |
9: 66,878,180 (GRCm39) |
S216R |
probably damaging |
Het |
| Nol7 |
A |
G |
13: 43,552,216 (GRCm39) |
K87R |
probably benign |
Het |
| Or9m2 |
T |
A |
2: 87,820,933 (GRCm39) |
H159Q |
probably benign |
Het |
| Patj |
G |
T |
4: 98,344,448 (GRCm39) |
G18W |
probably damaging |
Het |
| Pjvk |
G |
T |
2: 76,486,259 (GRCm39) |
G220C |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,819,219 (GRCm39) |
Y1071H |
probably damaging |
Het |
| Psmb8 |
C |
A |
17: 34,417,517 (GRCm39) |
Q49K |
probably benign |
Het |
| Rhcg |
C |
A |
7: 79,248,346 (GRCm39) |
L419F |
probably benign |
Het |
| Slc6a5 |
A |
G |
7: 49,564,601 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,111,003 (GRCm39) |
D607G |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 35,914,710 (GRCm39) |
L2275F |
probably damaging |
Het |
| Thoc1 |
A |
G |
18: 9,993,429 (GRCm39) |
D596G |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,341,835 (GRCm39) |
F205L |
probably damaging |
Het |
| Traf7 |
G |
A |
17: 24,729,473 (GRCm39) |
S446F |
probably damaging |
Het |
| Trnt1 |
G |
A |
6: 106,751,436 (GRCm39) |
V138I |
probably damaging |
Het |
| Tsnaxip1 |
A |
T |
8: 106,564,148 (GRCm39) |
Q116L |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,534,520 (GRCm39) |
S480P |
probably damaging |
Het |
|
| Other mutations in Hic2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation