Incidental Mutation 'R8857:Hic1'
| ID |
675423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hic1
|
| Ensembl Gene |
ENSMUSG00000043099 |
| Gene Name |
hypermethylated in cancer 1 |
| Synonyms |
HIC-1 |
| MMRRC Submission |
068677-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
R8857 (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 75056228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 887
(I887T)
|
| 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: I887T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000053483
Gene: ENSMUSG00000043099
AA Change: I887T
| 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 |
|
| Meta Mutation Damage Score |
0.1781 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (65/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
G |
A |
19: 57,119,287 (GRCm39) |
L266F |
possibly damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,402,065 (GRCm39) |
C654* |
probably null |
Het |
| Adgrl1 |
C |
A |
8: 84,657,657 (GRCm39) |
A421D |
probably benign |
Het |
| Adra1b |
C |
G |
11: 43,727,092 (GRCm39) |
|
probably benign |
Het |
| Apba2 |
T |
A |
7: 64,399,939 (GRCm39) |
V710E |
possibly damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,264,558 (GRCm39) |
V1523A |
probably damaging |
Het |
| AW551984 |
G |
C |
9: 39,511,831 (GRCm39) |
A60G |
probably damaging |
Het |
| Bdh1 |
A |
T |
16: 31,265,450 (GRCm39) |
T42S |
probably benign |
Het |
| C130073F10Rik |
G |
A |
4: 101,747,555 (GRCm39) |
P158L |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,248,909 (GRCm39) |
K457* |
probably null |
Het |
| Chd3 |
G |
A |
11: 69,253,146 (GRCm39) |
P223L |
probably benign |
Het |
| Cnst |
T |
C |
1: 179,437,878 (GRCm39) |
S481P |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,703,485 (GRCm39) |
K3027N |
unknown |
Het |
| Csf2rb2 |
T |
C |
15: 78,178,613 (GRCm39) |
D111G |
probably null |
Het |
| Disc1 |
A |
C |
8: 125,891,870 (GRCm39) |
E641A |
probably damaging |
Het |
| Fbln5 |
C |
A |
12: 101,726,990 (GRCm39) |
C320F |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,286,933 (GRCm39) |
T242I |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,922,280 (GRCm39) |
|
probably benign |
Het |
| Gpsm1 |
G |
C |
2: 26,230,457 (GRCm39) |
G469A |
possibly damaging |
Het |
| Hltf |
T |
C |
3: 20,159,825 (GRCm39) |
V692A |
probably damaging |
Het |
| Hsd17b13 |
A |
G |
5: 104,125,063 (GRCm39) |
L40P |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,298,587 (GRCm39) |
|
probably null |
Het |
| Irf2bpl |
T |
C |
12: 86,929,359 (GRCm39) |
Y438C |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,871,853 (GRCm39) |
N219I |
probably benign |
Het |
| Knop1 |
T |
C |
7: 118,451,949 (GRCm39) |
K257E |
|
Het |
| Krtap19-5 |
A |
T |
16: 88,693,139 (GRCm39) |
F58I |
unknown |
Het |
| L3mbtl2 |
T |
A |
15: 81,571,320 (GRCm39) |
F709L |
unknown |
Het |
| Map1a |
G |
A |
2: 121,138,098 (GRCm39) |
R2924H |
probably damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,356,567 (GRCm39) |
D224G |
probably benign |
Het |
| Mme |
A |
T |
3: 63,256,070 (GRCm39) |
N510I |
probably damaging |
Het |
| Morc2a |
T |
A |
11: 3,627,484 (GRCm39) |
|
probably null |
Het |
| Mptx2 |
T |
C |
1: 173,102,452 (GRCm39) |
E79G |
probably benign |
Het |
| Nutm1 |
A |
G |
2: 112,081,523 (GRCm39) |
M380T |
probably benign |
Het |
| Or5ac25 |
A |
T |
16: 59,182,041 (GRCm39) |
I180N |
probably damaging |
Het |
| P2rx1 |
A |
G |
11: 72,903,197 (GRCm39) |
|
probably benign |
Het |
| Padi4 |
A |
G |
4: 140,501,472 (GRCm39) |
I7T |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,513,781 (GRCm39) |
S1013P |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,521,556 (GRCm39) |
V1469A |
unknown |
Het |
| Polr1g |
C |
T |
7: 19,093,355 (GRCm39) |
|
probably benign |
Het |
| Prkab1 |
T |
C |
5: 116,158,147 (GRCm39) |
N150D |
probably damaging |
Het |
| Qsox1 |
A |
G |
1: 155,658,333 (GRCm39) |
V412A |
possibly damaging |
Het |
| Rai1 |
A |
G |
11: 60,077,393 (GRCm39) |
S486G |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,670,965 (GRCm39) |
Y170* |
probably null |
Het |
| Rims2 |
T |
A |
15: 39,543,044 (GRCm39) |
M1426K |
possibly damaging |
Het |
| Selenoi |
C |
A |
5: 30,461,160 (GRCm39) |
S132* |
probably null |
Het |
| Shtn1 |
T |
C |
19: 58,978,800 (GRCm39) |
I498M |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,483,523 (GRCm39) |
M970T |
probably benign |
Het |
| Slc17a8 |
A |
G |
10: 89,427,022 (GRCm39) |
F360L |
probably damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,393,305 (GRCm39) |
Y113H |
probably damaging |
Het |
| Spast |
T |
A |
17: 74,675,938 (GRCm39) |
M327K |
possibly damaging |
Het |
| Sphkap |
T |
A |
1: 83,258,288 (GRCm39) |
I152F |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tiam1 |
A |
T |
16: 89,662,145 (GRCm39) |
S658T |
probably damaging |
Het |
| Tmem174 |
G |
T |
13: 98,773,433 (GRCm39) |
H132Q |
probably damaging |
Het |
| Tnfrsf10b |
G |
A |
14: 70,012,543 (GRCm39) |
V117I |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,713,728 (GRCm39) |
T719A |
probably benign |
Het |
| Tomm34 |
G |
A |
2: 163,896,379 (GRCm39) |
P292S |
probably damaging |
Het |
| Trav15-1-dv6-1 |
T |
A |
14: 53,797,615 (GRCm39) |
F88Y |
probably damaging |
Het |
| Trp63 |
A |
T |
16: 25,639,226 (GRCm39) |
H138L |
probably damaging |
Het |
| U2af2 |
T |
A |
7: 5,065,290 (GRCm39) |
S2T |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,334,510 (GRCm39) |
V574A |
possibly damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfp488 |
A |
C |
14: 33,692,760 (GRCm39) |
S134R |
probably benign |
Het |
| Zfp950 |
T |
C |
19: 61,116,001 (GRCm39) |
D2G |
probably benign |
Het |
| Zfyve1 |
T |
A |
12: 83,598,374 (GRCm39) |
H618L |
probably damaging |
Het |
| Zp1 |
T |
G |
19: 10,893,888 (GRCm39) |
D439A |
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 |
|
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'- CTCCTTTGGTCAAAGCTGATATC -3'
(R):5'- TGAGTCTGAAGCAGCAGGAC -3'
Sequencing Primer
(F):5'- AAATATAAATCTCCCTTCCCCTATCC -3'
(R):5'- CAGGACAAGGCAGCTGCTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation