Incidental Mutation 'RF029:Hic1'
| ID |
604283 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hic1
|
| Ensembl Gene |
ENSMUSG00000043099 |
| Gene Name |
hypermethylated in cancer 1 |
| Synonyms |
HIC-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.310)
|
| Stock # |
RF029 (G1)
|
| Quality Score |
116.474 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75164565-75169519 bp(-) (GRCm38) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
CGGGGGGGGGG to CGGGGGGG
at 75169442 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055619]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055619
|
| SMART Domains |
Protein: ENSMUSP00000053483
Gene: ENSMUSG00000043099
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
GGTGGCCAG |
GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG |
6: 131,552,895 (GRCm38) |
|
probably benign |
Het |
| Abca17 |
T |
TCCCTC |
17: 24,287,727 (GRCm38) |
|
probably benign |
Het |
| Amot |
GGAGCAGCAA |
G |
X: 145,450,988 (GRCm38) |
|
probably benign |
Het |
| C1s1 |
CCCATGGCTC |
CC |
6: 124,541,351 (GRCm38) |
|
probably null |
Het |
| Cacna1a |
CCA |
CCAACA |
8: 84,638,724 (GRCm38) |
|
probably benign |
Het |
| Ccdc170 |
ACC |
ACCGCC |
10: 4,561,026 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
CAGA |
CAGAGACACTGACCAGGGATGTGATAGA |
9: 87,040,430 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
CCAGGGA |
CCAGGGATGTGACAGACACACTGCACAGGGA |
9: 87,040,442 (GRCm38) |
|
probably benign |
Het |
| Defb22 |
GCGGCA |
GCGGCAGAGCTGGCCTTTGCGGCA |
2: 152,485,833 (GRCm38) |
|
probably benign |
Het |
| Dnmt1 |
CGGAGCACAGTTCCTACCTCGTT |
CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT |
9: 20,910,123 (GRCm38) |
|
probably null |
Het |
| Eed |
C |
A |
7: 89,955,032 (GRCm38) |
A411S |
probably benign |
Het |
| Exd2 |
CCACAGC |
CC |
12: 80,475,946 (GRCm38) |
|
probably null |
Het |
| Fam171b |
GCAGC |
GCAGCATCAGC |
2: 83,812,892 (GRCm38) |
|
probably benign |
Het |
| Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTTCGTGTGCTGGT |
5: 110,378,139 (GRCm38) |
|
probably benign |
Het |
| Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,994,008 (GRCm38) |
|
probably null |
Het |
| Gabre |
GGCTC |
GGCTCCTGCTC |
X: 72,270,059 (GRCm38) |
|
probably benign |
Het |
| Gm47955 |
G |
GTTGTGGCTT |
1: 82,960,527 (GRCm38) |
|
probably benign |
Het |
| Gm572 |
TGGGGGGGGGGGG |
TGGGGG |
4: 148,671,393 (GRCm38) |
|
probably null |
Het |
| Ifi208 |
AGATG |
AG |
1: 173,677,696 (GRCm38) |
|
probably benign |
Het |
| Il2 |
GTGG |
GTGGGGCTTGAACTGG |
3: 37,125,827 (GRCm38) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGCCACAGCCAC |
CACAGCCACAGCCACAACAGCCACAGCCAC |
1: 83,042,270 (GRCm38) |
|
probably benign |
Het |
| Lkaaear1 |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA |
2: 181,697,579 (GRCm38) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTACAGCTCCAGCT |
2: 181,697,588 (GRCm38) |
|
probably benign |
Het |
| Lrmp |
TG |
TGAGCACATGG |
6: 145,173,790 (GRCm38) |
|
probably benign |
Het |
| Nusap1 |
TGAGGAGCAAGCTGAGA |
TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA |
2: 119,627,594 (GRCm38) |
|
probably benign |
Het |
| Nusap1 |
CTGAGA |
CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA |
2: 119,627,605 (GRCm38) |
|
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 109,624,195 (GRCm38) |
|
probably benign |
Het |
| Pnmal1 |
CAACATC |
CAACATCTCATGATGCACCTGCTTAAACATC |
7: 16,961,444 (GRCm38) |
|
probably null |
Het |
| Rasa2 |
CGC |
CGCAGC |
9: 96,631,467 (GRCm38) |
|
probably benign |
Het |
| Rbm12 |
TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
2: 156,096,095 (GRCm38) |
|
probably benign |
Het |
| Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,707,966 (GRCm38) |
|
probably null |
Het |
| Tcof1 |
CAG |
CAGAAG |
18: 60,835,735 (GRCm38) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCGGC |
18: 60,835,745 (GRCm38) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCT |
15: 72,801,323 (GRCm38) |
|
probably benign |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 108,956,092 (GRCm38) |
|
probably benign |
Het |
| Znrd1as |
CG |
CCACCACCACCACCCCCCCCAGG |
17: 36,965,071 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Hic1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01110:Hic1
|
APN |
11 |
75,165,519 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
cough
|
UTSW |
11 |
75,166,317 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
Cup
|
UTSW |
11 |
75,167,374 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Undulate
|
UTSW |
11 |
75,166,216 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R0138:Hic1
|
UTSW |
11 |
75,167,343 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0331:Hic1
|
UTSW |
11 |
75,165,490 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0491:Hic1
|
UTSW |
11 |
75,166,310 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0521:Hic1
|
UTSW |
11 |
75,166,887 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0744:Hic1
|
UTSW |
11 |
75,165,801 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R1766:Hic1
|
UTSW |
11 |
75,165,794 (GRCm38) |
nonsense |
probably null |
|
|
R2070:Hic1
|
UTSW |
11 |
75,169,059 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R2211:Hic1
|
UTSW |
11 |
75,169,384 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R5418:Hic1
|
UTSW |
11 |
75,166,599 (GRCm38) |
splice site |
probably null |
|
|
R6047:Hic1
|
UTSW |
11 |
75,166,849 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6076:Hic1
|
UTSW |
11 |
75,167,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6415:Hic1
|
UTSW |
11 |
75,166,317 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6633:Hic1
|
UTSW |
11 |
75,169,498 (GRCm38) |
missense |
unknown |
|
|
R7122:Hic1
|
UTSW |
11 |
75,169,230 (GRCm38) |
missense |
probably benign |
|
|
R7308:Hic1
|
UTSW |
11 |
75,167,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7761:Hic1
|
UTSW |
11 |
75,167,374 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7778:Hic1
|
UTSW |
11 |
75,166,216 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R7824:Hic1
|
UTSW |
11 |
75,166,216 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R8230:Hic1
|
UTSW |
11 |
75,165,585 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R8419:Hic1
|
UTSW |
11 |
75,166,270 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R8752:Hic1
|
UTSW |
11 |
75,169,380 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8832:Hic1
|
UTSW |
11 |
75,166,902 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8857:Hic1
|
UTSW |
11 |
75,165,402 (GRCm38) |
missense |
probably benign |
0.33 |
|
R9068:Hic1
|
UTSW |
11 |
75,169,506 (GRCm38) |
missense |
unknown |
|
|
R9157:Hic1
|
UTSW |
11 |
75,166,227 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R9497:Hic1
|
UTSW |
11 |
75,169,305 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9594:Hic1
|
UTSW |
11 |
75,165,931 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
RF043:Hic1
|
UTSW |
11 |
75,169,455 (GRCm38) |
small deletion |
probably benign |
|
|
Z1186:Hic1
|
UTSW |
11 |
75,167,526 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1187:Hic1
|
UTSW |
11 |
75,167,526 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1188:Hic1
|
UTSW |
11 |
75,167,526 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1189:Hic1
|
UTSW |
11 |
75,167,526 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1190:Hic1
|
UTSW |
11 |
75,167,526 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1191:Hic1
|
UTSW |
11 |
75,169,449 (GRCm38) |
frame shift |
probably null |
|
|
Z1191:Hic1
|
UTSW |
11 |
75,169,448 (GRCm38) |
frame shift |
probably null |
|
|
Z1191:Hic1
|
UTSW |
11 |
75,167,526 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1191:Hic1
|
UTSW |
11 |
75,169,450 (GRCm38) |
small deletion |
probably benign |
|
|
Z1192:Hic1
|
UTSW |
11 |
75,169,450 (GRCm38) |
small deletion |
probably benign |
|
|
Z1192:Hic1
|
UTSW |
11 |
75,167,526 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTCTTATCTGGAGCGGC -3'
(R):5'- TCGTAGTGTTCCACCCCAAC -3'
Sequencing Primer
(F):5'- TTATCTGGAGCGGCCCGAAC -3'
(R):5'- CCAACCCCTTTTCTAAGATAGGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation