Incidental Mutation 'R8752:Hic1'
| ID |
663925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hic1
|
| Ensembl Gene |
ENSMUSG00000043099 |
| Gene Name |
hypermethylated in cancer 1 |
| Synonyms |
HIC-1 |
| MMRRC Submission |
068595-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.382)
|
| Stock # |
R8752 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75055391-75060345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75060206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 47
(F47S)
|
| 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 |
probably benign
Transcript: ENSMUST00000055619
AA Change: F47S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000053483
Gene: ENSMUSG00000043099
AA Change: F47S
| 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 |
100% (55/55) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,704,396 (GRCm39) |
K82R |
probably damaging |
Het |
| Acad8 |
A |
T |
9: 26,896,853 (GRCm39) |
M202K |
probably damaging |
Het |
| Adam29 |
A |
T |
8: 56,325,328 (GRCm39) |
C375* |
probably null |
Het |
| Adat2 |
A |
T |
10: 13,432,604 (GRCm39) |
E35D |
probably benign |
Het |
| Afm |
A |
C |
5: 90,700,424 (GRCm39) |
E600D |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,992,901 (GRCm39) |
D4728E |
probably damaging |
Het |
| Ak7 |
AAGGAG |
AAG |
12: 105,713,476 (GRCm39) |
|
probably benign |
Het |
| Ankrd28 |
C |
A |
14: 31,477,699 (GRCm39) |
|
probably benign |
Het |
| Ankrd31 |
A |
T |
13: 96,916,879 (GRCm39) |
H131L |
probably damaging |
Het |
| Ano5 |
T |
C |
7: 51,196,617 (GRCm39) |
F183L |
probably damaging |
Het |
| Asah1 |
G |
A |
8: 41,813,314 (GRCm39) |
S33L |
possibly damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,818 (GRCm39) |
Y293H |
probably damaging |
Het |
| Cd302 |
A |
G |
2: 60,102,529 (GRCm39) |
F30S |
probably damaging |
Het |
| Ces1c |
C |
G |
8: 93,846,964 (GRCm39) |
A243P |
probably damaging |
Het |
| Deptor |
A |
T |
15: 55,044,280 (GRCm39) |
T149S |
probably benign |
Het |
| Dnah14 |
G |
A |
1: 181,455,581 (GRCm39) |
R902H |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,290,365 (GRCm39) |
I1252V |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,711,701 (GRCm39) |
I2643V |
probably benign |
Het |
| Dnajc4 |
C |
T |
19: 6,966,801 (GRCm39) |
V177I |
probably benign |
Het |
| Efhc1 |
A |
T |
1: 21,059,692 (GRCm39) |
N581Y |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,214,759 (GRCm39) |
T767A |
probably damaging |
Het |
| Etv6 |
A |
G |
6: 134,243,391 (GRCm39) |
E382G |
probably benign |
Het |
| Foxd4 |
A |
T |
19: 24,878,094 (GRCm39) |
D35E |
probably damaging |
Het |
| Gata2 |
T |
C |
6: 88,177,513 (GRCm39) |
V181A |
possibly damaging |
Het |
| Gm5114 |
A |
T |
7: 39,057,927 (GRCm39) |
M564K |
probably damaging |
Het |
| Gpr45 |
A |
T |
1: 43,071,842 (GRCm39) |
I162F |
possibly damaging |
Het |
| Hsf1 |
C |
A |
15: 76,384,344 (GRCm39) |
S417* |
probably null |
Het |
| Id4 |
A |
T |
13: 48,415,065 (GRCm39) |
H31L |
possibly damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,328,265 (GRCm39) |
S322G |
probably damaging |
Het |
| Lcn11 |
T |
C |
2: 25,668,138 (GRCm39) |
Y99H |
probably damaging |
Het |
| Mipol1 |
G |
A |
12: 57,372,367 (GRCm39) |
R142Q |
probably damaging |
Het |
| Mpp2 |
A |
G |
11: 101,976,129 (GRCm39) |
S10P |
probably benign |
Het |
| Muc15 |
A |
T |
2: 110,561,758 (GRCm39) |
N65Y |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,596,165 (GRCm39) |
|
probably benign |
Het |
| Ndst3 |
C |
T |
3: 123,342,684 (GRCm39) |
R709Q |
probably damaging |
Het |
| Nek11 |
G |
T |
9: 105,225,207 (GRCm39) |
Q102K |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,407,113 (GRCm39) |
N1416D |
probably benign |
Het |
| Or13p3 |
A |
C |
4: 118,567,083 (GRCm39) |
T160P |
probably damaging |
Het |
| Or2v1 |
T |
A |
11: 49,025,505 (GRCm39) |
V162E |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or5p72 |
T |
C |
7: 108,022,480 (GRCm39) |
I234T |
probably benign |
Het |
| Or5w20 |
T |
C |
2: 87,726,591 (GRCm39) |
I16T |
possibly damaging |
Het |
| Parp4 |
G |
T |
14: 56,886,073 (GRCm39) |
E1717D |
unknown |
Het |
| Pla2g4d |
A |
T |
2: 120,099,248 (GRCm39) |
|
probably null |
Het |
| Pramel52-ps |
A |
T |
5: 94,529,354 (GRCm39) |
R41S |
possibly damaging |
Het |
| Psmc2 |
A |
G |
5: 22,001,533 (GRCm39) |
I107V |
probably benign |
Het |
| Rhod |
G |
T |
19: 4,476,121 (GRCm39) |
T210N |
probably damaging |
Het |
| Setx |
A |
T |
2: 29,048,992 (GRCm39) |
D2006V |
probably damaging |
Het |
| Sfpq |
T |
A |
4: 126,919,969 (GRCm39) |
M541K |
possibly damaging |
Het |
| Sorbs1 |
C |
T |
19: 40,349,872 (GRCm39) |
|
probably null |
Het |
| Sv2b |
C |
A |
7: 74,855,842 (GRCm39) |
M149I |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,060,366 (GRCm39) |
|
probably benign |
Het |
| Vmn1r216 |
G |
T |
13: 23,283,880 (GRCm39) |
V188F |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,201,018 (GRCm39) |
F313S |
probably benign |
Het |
| Vmn2r44 |
A |
G |
7: 8,370,805 (GRCm39) |
F747S |
probably damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,661,738 (GRCm39) |
S495P |
probably damaging |
Het |
| Xpo5 |
C |
T |
17: 46,547,838 (GRCm39) |
|
probably benign |
Het |
| Zscan20 |
A |
C |
4: 128,479,480 (GRCm39) |
C1004G |
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 |
|
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'- GCACACTCTTATCTGGAGCG -3'
(R):5'- TCGTAGTGTTCCACCCCAAC -3'
Sequencing Primer
(F):5'- TTATCTGGAGCGGCCCGAAC -3'
(R):5'- CCGAATTGGCGCGATATA -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation