Incidental Mutation 'R6047:Hic1'
| ID |
483349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hic1
|
| Ensembl Gene |
ENSMUSG00000043099 |
| Gene Name |
hypermethylated in cancer 1 |
| Synonyms |
HIC-1 |
| MMRRC Submission |
044215-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
R6047 (G1)
|
| Quality Score |
158.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75055391-75060345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75057675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 405
(S405T)
|
| 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: S405T
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000053483
Gene: ENSMUSG00000043099
AA Change: S405T
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131720
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153226
|
| Meta Mutation Damage Score |
0.0774 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,856,066 (GRCm39) |
I58T |
probably damaging |
Het |
| Adgrb2 |
G |
T |
4: 129,912,498 (GRCm39) |
G1208C |
probably damaging |
Het |
| Antxrl |
T |
C |
14: 33,775,433 (GRCm39) |
|
probably benign |
Het |
| Appl2 |
C |
T |
10: 83,448,765 (GRCm39) |
|
probably null |
Het |
| Bloc1s2 |
T |
C |
19: 44,130,629 (GRCm39) |
I112V |
possibly damaging |
Het |
| Cblb |
G |
T |
16: 51,932,611 (GRCm39) |
|
probably null |
Het |
| Cdk9 |
T |
C |
2: 32,598,285 (GRCm39) |
|
probably null |
Het |
| Dok7 |
G |
A |
5: 35,236,651 (GRCm39) |
G206D |
probably damaging |
Het |
| Ftsj3 |
C |
T |
11: 106,143,144 (GRCm39) |
R390H |
probably damaging |
Het |
| Gpr179 |
G |
T |
11: 97,229,242 (GRCm39) |
P971Q |
probably damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,482,061 (GRCm39) |
L217P |
probably damaging |
Het |
| Insrr |
A |
G |
3: 87,711,483 (GRCm39) |
K468E |
probably damaging |
Het |
| Lce1j |
G |
C |
3: 92,696,503 (GRCm39) |
R92G |
unknown |
Het |
| Lrp12 |
T |
C |
15: 39,735,463 (GRCm39) |
E823G |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,527,787 (GRCm39) |
I98T |
probably benign |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,212 (GRCm39) |
H179L |
possibly damaging |
Het |
| Med24 |
A |
T |
11: 98,598,591 (GRCm39) |
C691* |
probably null |
Het |
| Mical1 |
T |
C |
10: 41,357,703 (GRCm39) |
|
probably null |
Het |
| Msantd2 |
A |
T |
9: 37,434,738 (GRCm39) |
Y326F |
probably damaging |
Het |
| Nfyc |
T |
A |
4: 120,636,314 (GRCm39) |
|
probably null |
Het |
| Nrg3 |
T |
A |
14: 38,119,309 (GRCm39) |
|
probably null |
Het |
| Nt5c3 |
G |
A |
6: 56,859,964 (GRCm39) |
S291L |
probably damaging |
Het |
| Pak4 |
A |
G |
7: 28,262,461 (GRCm39) |
Y384H |
probably benign |
Het |
| Pdia5 |
T |
C |
16: 35,217,848 (GRCm39) |
K512E |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,406,597 (GRCm39) |
F283L |
probably damaging |
Het |
| Pick1 |
A |
G |
15: 79,139,895 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,814,059 (GRCm39) |
V4143A |
probably damaging |
Het |
| Ptprc |
C |
T |
1: 138,028,779 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,451,897 (GRCm39) |
F1342S |
probably benign |
Het |
| Slc17a7 |
A |
T |
7: 44,822,830 (GRCm39) |
I436F |
probably benign |
Het |
| Slc34a1 |
G |
T |
13: 55,559,884 (GRCm39) |
A403S |
probably damaging |
Het |
| Stmn3 |
A |
T |
2: 180,950,952 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Tldc2 |
A |
G |
2: 156,938,382 (GRCm39) |
E207G |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,027,717 (GRCm39) |
N436S |
probably damaging |
Het |
| Uty |
G |
T |
Y: 1,158,288 (GRCm39) |
P538Q |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,756,921 (GRCm39) |
D1142G |
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 |
|
|
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 |
|
R9594:Hic1
|
UTSW |
11 |
75,056,757 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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'- CGGACCAGTTCATCGCCATAAC -3'
(R):5'- TCATCCAGGCTTGCTACTCG -3'
Sequencing Primer
(F):5'- TGCTTCATCCAGCGGTAGAG -3'
(R):5'- AGGCTTGCTACTCGTCCCC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation