Incidental Mutation 'R8230:Hic1'
| ID |
637111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hic1
|
| Ensembl Gene |
ENSMUSG00000043099 |
| Gene Name |
hypermethylated in cancer 1 |
| Synonyms |
HIC-1 |
| MMRRC Submission |
067662-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.382)
|
| Stock # |
R8230 (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 75056411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 826
(D826G)
|
| 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: D826G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000053483
Gene: ENSMUSG00000043099
AA Change: D826G
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,246,904 (GRCm39) |
Y485H |
probably benign |
Het |
| Actl7a |
T |
A |
4: 56,743,768 (GRCm39) |
H98Q |
probably damaging |
Het |
| Adam15 |
G |
A |
3: 89,252,917 (GRCm39) |
T267I |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,391,835 (GRCm39) |
H1945R |
possibly damaging |
Het |
| Baiap3 |
A |
G |
17: 25,465,827 (GRCm39) |
I585T |
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,791,652 (GRCm39) |
D234G |
probably damaging |
Het |
| Cbx3 |
T |
C |
6: 51,452,281 (GRCm39) |
V32A |
probably damaging |
Het |
| Ccdc127 |
T |
C |
13: 74,508,751 (GRCm39) |
F50S |
unknown |
Het |
| Ccdc15 |
T |
C |
9: 37,226,555 (GRCm39) |
E473G |
probably benign |
Het |
| Clasp2 |
A |
G |
9: 113,721,482 (GRCm39) |
D763G |
possibly damaging |
Het |
| Dab2 |
T |
A |
15: 6,451,824 (GRCm39) |
F147I |
probably damaging |
Het |
| Dcaf1 |
G |
A |
9: 106,735,914 (GRCm39) |
G954D |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,830,935 (GRCm39) |
M1T |
probably null |
Het |
| F2r |
T |
A |
13: 95,741,247 (GRCm39) |
D96V |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,149,424 (GRCm39) |
D730G |
probably benign |
Het |
| Fbf1 |
T |
C |
11: 116,037,565 (GRCm39) |
I892V |
probably benign |
Het |
| Gbp8 |
T |
C |
5: 105,198,735 (GRCm39) |
N60S |
probably benign |
Het |
| Gm12790 |
T |
C |
4: 101,825,280 (GRCm39) |
I45V |
probably benign |
Het |
| Herc1 |
G |
A |
9: 66,377,598 (GRCm39) |
V3455I |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,234,485 (GRCm39) |
Y300C |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,625,068 (GRCm39) |
Q68R |
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,030,020 (GRCm39) |
Y309C |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,326,711 (GRCm39) |
|
probably null |
Het |
| Kat7 |
T |
C |
11: 95,168,415 (GRCm39) |
K414E |
probably damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,740,982 (GRCm39) |
L260Q |
probably damaging |
Het |
| Mapk1 |
T |
C |
16: 16,843,930 (GRCm39) |
I215T |
noncoding transcript |
Het |
| Ntpcr |
G |
T |
8: 126,464,159 (GRCm39) |
|
probably null |
Het |
| Ntrk3 |
C |
A |
7: 77,900,518 (GRCm39) |
C607F |
probably damaging |
Het |
| Or10ag54 |
A |
T |
2: 87,099,545 (GRCm39) |
H119L |
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,631 (GRCm39) |
I86T |
probably damaging |
Het |
| Or5w13 |
T |
A |
2: 87,523,705 (GRCm39) |
I174F |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,191,707 (GRCm39) |
V601A |
probably damaging |
Het |
| Plagl2 |
A |
G |
2: 153,074,239 (GRCm39) |
C221R |
probably damaging |
Het |
| Shf |
A |
G |
2: 122,179,968 (GRCm39) |
Y195H |
probably damaging |
Het |
| Tapbpl |
T |
A |
6: 125,203,684 (GRCm39) |
Y332F |
probably damaging |
Het |
| Tbx15 |
G |
T |
3: 99,259,305 (GRCm39) |
C392F |
probably damaging |
Het |
| Ubxn7 |
T |
C |
16: 32,194,094 (GRCm39) |
L222P |
probably benign |
Het |
| Vsig8 |
A |
T |
1: 172,389,078 (GRCm39) |
D222V |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,009 (GRCm39) |
E2750G |
probably damaging |
Het |
| Zfp870 |
A |
G |
17: 33,102,663 (GRCm39) |
V222A |
possibly 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 |
|
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'- GAGAAACGGTCGATGGTTCG -3'
(R):5'- ACTCTGGAGAGAAGCCCTAC -3'
Sequencing Primer
(F):5'- CGATGGTTCGGCTGTCC -3'
(R):5'- CTCATCAGCCATATGAAGATGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation