Incidental Mutation 'R9594:Hic1'
| ID |
723178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hic1
|
| Ensembl Gene |
ENSMUSG00000043099 |
| Gene Name |
hypermethylated in cancer 1 |
| Synonyms |
HIC-1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
R9594 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75055391-75060345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75056757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 711
(T711A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045281]
[ENSMUST00000055619]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045281
|
| SMART Domains |
Protein: ENSMUSP00000043555
Gene: ENSMUSG00000038290
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
42 |
99 |
7.68e-6 |
PROSPERO |
|
internal_repeat_1
|
135 |
188 |
7.68e-6 |
PROSPERO |
|
low complexity region
|
212 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
549 |
N/A |
INTRINSIC |
|
coiled coil region
|
574 |
600 |
N/A |
INTRINSIC |
|
Pfam:EST1
|
637 |
742 |
1.8e-18 |
PFAM |
|
Pfam:EST1_DNA_bind
|
750 |
1106 |
1.6e-78 |
PFAM |
|
coiled coil region
|
1197 |
1234 |
N/A |
INTRINSIC |
|
PINc
|
1245 |
1396 |
2.85e-25 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055619
AA Change: T711A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000053483
Gene: ENSMUSG00000043099
AA Change: T711A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
200 |
N/A |
INTRINSIC |
|
BTB
|
207 |
313 |
6.94e-24 |
SMART |
|
low complexity region
|
318 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
370 |
N/A |
INTRINSIC |
|
Blast:BTB
|
375 |
398 |
1e-7 |
BLAST |
|
low complexity region
|
415 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
542 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
597 |
619 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
667 |
689 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
695 |
717 |
9.36e-6 |
SMART |
|
ZnF_C2H2
|
723 |
745 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
751 |
773 |
5.21e-4 |
SMART |
|
low complexity region
|
774 |
804 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130145
|
| SMART Domains |
Protein: ENSMUSP00000120229
Gene: ENSMUSG00000038290
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
35 |
61 |
N/A |
INTRINSIC |
|
Pfam:EST1
|
99 |
204 |
1.3e-19 |
PFAM |
|
Pfam:EST1_DNA_bind
|
212 |
339 |
7.3e-37 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit varying abnormalities, such as acrania, exencephaly, cleft palate, limb defects, and omphalocele, and die perinatally. Heterozygotes develop tumors, including lymphomas, sarcomas, and epithelial cancers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aida |
T |
C |
1: 183,095,012 (GRCm39) |
V151A |
possibly damaging |
Het |
| Akap3 |
T |
C |
6: 126,842,377 (GRCm39) |
V332A |
probably damaging |
Het |
| Apobec3 |
T |
A |
15: 79,790,653 (GRCm39) |
W332R |
|
Het |
| Atf6 |
A |
G |
1: 170,668,402 (GRCm39) |
V166A |
probably benign |
Het |
| Bcl6b |
A |
G |
11: 70,118,858 (GRCm39) |
|
probably null |
Het |
| Brd3 |
G |
T |
2: 27,340,373 (GRCm39) |
P612Q |
probably damaging |
Het |
| Btg1 |
T |
A |
10: 96,453,263 (GRCm39) |
L26H |
probably damaging |
Het |
| Btg4 |
A |
G |
9: 51,030,560 (GRCm39) |
D220G |
probably damaging |
Het |
| Cd209e |
T |
C |
8: 3,901,183 (GRCm39) |
D157G |
probably benign |
Het |
| Cdhr18 |
A |
T |
14: 13,814,959 (GRCm38) |
L858Q |
unknown |
Het |
| Cimip2b |
T |
G |
4: 43,427,329 (GRCm39) |
T332P |
unknown |
Het |
| Dnah10 |
T |
C |
5: 124,907,107 (GRCm39) |
L4269P |
probably damaging |
Het |
| Dync1li2 |
C |
A |
8: 105,154,752 (GRCm39) |
K285N |
possibly damaging |
Het |
| Ehmt2 |
C |
A |
17: 35,118,740 (GRCm39) |
Q198K |
possibly damaging |
Het |
| Foxn3 |
C |
A |
12: 99,359,294 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
C |
T |
11: 52,664,694 (GRCm39) |
P8L |
probably benign |
Het |
| G6pc1 |
T |
C |
11: 101,258,660 (GRCm39) |
I13T |
possibly damaging |
Het |
| Ghrhr |
A |
G |
6: 55,362,470 (GRCm39) |
I356V |
probably benign |
Het |
| Gm14410 |
A |
T |
2: 176,885,773 (GRCm39) |
C164S |
probably damaging |
Het |
| Gpcpd1 |
A |
T |
2: 132,388,848 (GRCm39) |
M308K |
possibly damaging |
Het |
| Gpr143 |
GTTTTTT |
GTTTTTTT |
X: 151,578,627 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,225,727 (GRCm39) |
K2143E |
probably benign |
Het |
| Grm2 |
G |
A |
9: 106,524,408 (GRCm39) |
T298I |
probably damaging |
Het |
| H2-T24 |
A |
T |
17: 36,326,455 (GRCm39) |
L148Q |
probably damaging |
Het |
| Hcn2 |
C |
T |
10: 79,560,559 (GRCm39) |
R297C |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,264,514 (GRCm39) |
D672G |
|
Het |
| Impg1 |
A |
G |
9: 80,288,923 (GRCm39) |
F378S |
probably damaging |
Het |
| Lipe |
T |
C |
7: 25,098,128 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,156,136 (GRCm39) |
D1270G |
probably null |
Het |
| Mbnl1 |
A |
T |
3: 60,520,859 (GRCm39) |
H149L |
probably damaging |
Het |
| Mmel1 |
T |
C |
4: 154,978,592 (GRCm39) |
Y675H |
probably benign |
Het |
| Mrfap1 |
C |
A |
5: 36,953,807 (GRCm39) |
R44L |
probably damaging |
Het |
| Nherf2 |
G |
T |
17: 24,868,922 (GRCm39) |
T68K |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,041,889 (GRCm39) |
T1303A |
possibly damaging |
Het |
| Olfm3 |
A |
G |
3: 114,883,785 (GRCm39) |
D62G |
probably damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,638,952 (GRCm39) |
I277V |
probably benign |
Het |
| Or2i1 |
C |
G |
17: 37,508,308 (GRCm39) |
A109P |
possibly damaging |
Het |
| Or5g27 |
C |
T |
2: 85,409,882 (GRCm39) |
Q100* |
probably null |
Het |
| Or5l13 |
T |
C |
2: 87,780,544 (GRCm39) |
E11G |
probably damaging |
Het |
| Or5p59 |
T |
G |
7: 107,702,663 (GRCm39) |
I49S |
probably damaging |
Het |
| Or6c8b |
T |
A |
10: 128,882,354 (GRCm39) |
I193F |
probably benign |
Het |
| Pcbd2 |
A |
G |
13: 55,880,849 (GRCm39) |
Y68C |
probably benign |
Het |
| Phf3 |
G |
C |
1: 30,869,003 (GRCm39) |
Q682E |
probably benign |
Het |
| Ptpn6 |
C |
A |
6: 124,704,728 (GRCm39) |
R294L |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,025,026 (GRCm39) |
V1754D |
probably damaging |
Het |
| Rab36 |
T |
A |
10: 74,887,873 (GRCm39) |
I248K |
probably damaging |
Het |
| Rabac1 |
A |
G |
7: 24,671,579 (GRCm39) |
Y114H |
probably benign |
Het |
| Rag1 |
A |
G |
2: 101,474,701 (GRCm39) |
V147A |
probably benign |
Het |
| Rnf150 |
T |
A |
8: 83,717,144 (GRCm39) |
V217D |
probably damaging |
Het |
| Scarf2 |
G |
T |
16: 17,620,473 (GRCm39) |
C101F |
probably damaging |
Het |
| Sh3glb2 |
C |
T |
2: 30,236,672 (GRCm39) |
R230Q |
probably damaging |
Het |
| Slc13a1 |
A |
G |
6: 24,089,100 (GRCm39) |
V550A |
probably damaging |
Het |
| Sp140 |
A |
G |
1: 85,560,235 (GRCm39) |
N289S |
possibly damaging |
Het |
| Spmip6 |
T |
C |
4: 41,505,091 (GRCm39) |
E207G |
|
Het |
| Stac3 |
T |
A |
10: 127,338,654 (GRCm39) |
M1K |
probably null |
Het |
| Stk31 |
C |
T |
6: 49,424,221 (GRCm39) |
T845I |
possibly damaging |
Het |
| Sufu |
T |
C |
19: 46,385,674 (GRCm39) |
Y45H |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,607,109 (GRCm39) |
C1834* |
probably null |
Het |
| Tns3 |
G |
A |
11: 8,401,142 (GRCm39) |
T1052M |
possibly damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,686,021 (GRCm39) |
T427A |
possibly damaging |
Het |
| Trim45 |
A |
G |
3: 100,830,265 (GRCm39) |
H13R |
probably benign |
Het |
| Trpv5 |
A |
G |
6: 41,647,773 (GRCm39) |
F347L |
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Zfp236 |
G |
T |
18: 82,664,238 (GRCm39) |
Q516K |
probably damaging |
Het |
|
| Other mutations in Hic1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01110:Hic1
|
APN |
11 |
75,056,345 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
cough
|
UTSW |
11 |
75,057,143 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Cup
|
UTSW |
11 |
75,058,200 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Undulate
|
UTSW |
11 |
75,057,042 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0138:Hic1
|
UTSW |
11 |
75,058,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0331:Hic1
|
UTSW |
11 |
75,056,316 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0491:Hic1
|
UTSW |
11 |
75,057,136 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0521:Hic1
|
UTSW |
11 |
75,057,713 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0744:Hic1
|
UTSW |
11 |
75,056,627 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1766:Hic1
|
UTSW |
11 |
75,056,620 (GRCm39) |
nonsense |
probably null |
|
|
R2070:Hic1
|
UTSW |
11 |
75,059,885 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2211:Hic1
|
UTSW |
11 |
75,060,210 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5418:Hic1
|
UTSW |
11 |
75,057,425 (GRCm39) |
splice site |
probably null |
|
|
R6047:Hic1
|
UTSW |
11 |
75,057,675 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6076:Hic1
|
UTSW |
11 |
75,058,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6415:Hic1
|
UTSW |
11 |
75,057,143 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6633:Hic1
|
UTSW |
11 |
75,060,324 (GRCm39) |
missense |
unknown |
|
|
R7122:Hic1
|
UTSW |
11 |
75,060,056 (GRCm39) |
missense |
probably benign |
|
|
R7308:Hic1
|
UTSW |
11 |
75,057,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7761:Hic1
|
UTSW |
11 |
75,058,200 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7778:Hic1
|
UTSW |
11 |
75,057,042 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7824:Hic1
|
UTSW |
11 |
75,057,042 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8230:Hic1
|
UTSW |
11 |
75,056,411 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8419:Hic1
|
UTSW |
11 |
75,057,096 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8752:Hic1
|
UTSW |
11 |
75,060,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8832:Hic1
|
UTSW |
11 |
75,057,728 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8857:Hic1
|
UTSW |
11 |
75,056,228 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9068:Hic1
|
UTSW |
11 |
75,060,332 (GRCm39) |
missense |
unknown |
|
|
R9157:Hic1
|
UTSW |
11 |
75,057,053 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9497:Hic1
|
UTSW |
11 |
75,060,131 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
RF029:Hic1
|
UTSW |
11 |
75,060,268 (GRCm39) |
small deletion |
probably benign |
|
|
RF043:Hic1
|
UTSW |
11 |
75,060,281 (GRCm39) |
small deletion |
probably benign |
|
|
Z1186:Hic1
|
UTSW |
11 |
75,058,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1187:Hic1
|
UTSW |
11 |
75,058,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1188:Hic1
|
UTSW |
11 |
75,058,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1189:Hic1
|
UTSW |
11 |
75,058,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1190:Hic1
|
UTSW |
11 |
75,058,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1191:Hic1
|
UTSW |
11 |
75,060,275 (GRCm39) |
frame shift |
probably null |
|
|
Z1191:Hic1
|
UTSW |
11 |
75,060,274 (GRCm39) |
frame shift |
probably null |
|
|
Z1191:Hic1
|
UTSW |
11 |
75,058,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1191:Hic1
|
UTSW |
11 |
75,060,276 (GRCm39) |
small deletion |
probably benign |
|
|
Z1192:Hic1
|
UTSW |
11 |
75,060,276 (GRCm39) |
small deletion |
probably benign |
|
|
Z1192:Hic1
|
UTSW |
11 |
75,058,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGCATCTTCATATGGCTGATG -3'
(R):5'- CGTTATATGGCAGGGCAGAG -3'
Sequencing Primer
(F):5'- CATCTTCATATGGCTGATGAGGTTGC -3'
(R):5'- CGGTGGGGACAAGGTCACTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation