Incidental Mutation 'R7308:Hic1'
| ID |
567404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hic1
|
| Ensembl Gene |
ENSMUSG00000043099 |
| Gene Name |
hypermethylated in cancer 1 |
| Synonyms |
HIC-1 |
| MMRRC Submission |
045323-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.382)
|
| Stock # |
R7308 (G1)
|
| Quality Score |
208.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75164565-75169519 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75167151 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 304
(L304P)
|
| 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 damaging
Transcript: ENSMUST00000055619
AA Change: L304P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000053483
Gene: ENSMUSG00000043099
AA Change: L304P
| 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 |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,423,770 (GRCm38) |
I43T |
probably benign |
Het |
| Ankar |
G |
A |
1: 72,651,794 (GRCm38) |
Q1175* |
probably null |
Het |
| Aqr |
G |
A |
2: 114,104,062 (GRCm38) |
A1366V |
possibly damaging |
Het |
| Arhgap45 |
G |
A |
10: 80,026,558 (GRCm38) |
|
probably null |
Het |
| Atf7ip |
T |
A |
6: 136,565,089 (GRCm38) |
M607K |
probably benign |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,888,136 (GRCm38) |
|
probably benign |
Het |
| BC028528 |
TCACTGGTTCTGTGGTCACTGGTTCTGTGG |
TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG |
3: 95,888,152 (GRCm38) |
|
probably benign |
Het |
| BC028528 |
ACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC |
3: 95,888,169 (GRCm38) |
|
probably benign |
Het |
| Bcar3 |
T |
A |
3: 122,508,493 (GRCm38) |
V279E |
probably benign |
Het |
| Cd96 |
C |
T |
16: 46,071,734 (GRCm38) |
|
probably null |
Het |
| Cdca2 |
G |
A |
14: 67,694,991 (GRCm38) |
P488S |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,754,303 (GRCm38) |
V185A |
possibly damaging |
Het |
| Col4a2 |
T |
G |
8: 11,406,856 (GRCm38) |
|
probably null |
Het |
| Cyp4a12a |
A |
G |
4: 115,327,758 (GRCm38) |
R379G |
possibly damaging |
Het |
| Defb34 |
A |
G |
8: 19,126,379 (GRCm38) |
S29G |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,995,275 (GRCm38) |
S2958P |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,665,162 (GRCm38) |
D4431G |
possibly damaging |
Het |
| Egfem1 |
A |
T |
3: 29,151,866 (GRCm38) |
H84L |
probably benign |
Het |
| Enah |
A |
T |
1: 181,906,385 (GRCm38) |
|
probably null |
Het |
| Fam178b |
G |
T |
1: 36,659,407 (GRCm38) |
Q78K |
probably benign |
Het |
| Glb1 |
A |
G |
9: 114,473,863 (GRCm38) |
N589S |
probably damaging |
Het |
| Gm1527 |
C |
T |
3: 28,902,280 (GRCm38) |
H132Y |
probably benign |
Het |
| Gm5799 |
A |
G |
14: 43,543,707 (GRCm38) |
R22G |
possibly damaging |
Het |
| Grip2 |
T |
C |
6: 91,778,688 (GRCm38) |
D617G |
possibly damaging |
Het |
| Hax1 |
A |
T |
3: 89,998,566 (GRCm38) |
D5E |
possibly damaging |
Het |
| Hmox1 |
T |
A |
8: 75,097,019 (GRCm38) |
I105N |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,562,555 (GRCm38) |
S38P |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,267,103 (GRCm38) |
S558P |
possibly damaging |
Het |
| Kcnf1 |
T |
A |
12: 17,174,729 (GRCm38) |
H497L |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,330,935 (GRCm38) |
D1022N |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,900,463 (GRCm38) |
F479S |
possibly damaging |
Het |
| Krba1 |
T |
C |
6: 48,406,339 (GRCm38) |
V203A |
probably benign |
Het |
| Lct |
G |
T |
1: 128,319,087 (GRCm38) |
P233Q |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,334,515 (GRCm38) |
D773G |
probably benign |
Het |
| Malt1 |
T |
C |
18: 65,449,609 (GRCm38) |
|
probably null |
Het |
| Man1a2 |
A |
T |
3: 100,620,105 (GRCm38) |
L333Q |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,082,928 (GRCm38) |
T584A |
probably benign |
Het |
| Myof |
A |
T |
19: 37,910,911 (GRCm38) |
S1800R |
probably damaging |
Het |
| Nbea |
A |
C |
3: 56,091,031 (GRCm38) |
C118W |
probably damaging |
Het |
| Nsd3 |
A |
T |
8: 25,640,724 (GRCm38) |
D35V |
probably damaging |
Het |
| Ntaq1 |
T |
C |
15: 58,152,610 (GRCm38) |
V85A |
possibly damaging |
Het |
| Or11g24 |
G |
A |
14: 50,425,265 (GRCm38) |
V249I |
possibly damaging |
Het |
| Or2y1c |
G |
A |
11: 49,469,927 (GRCm38) |
|
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,686,147 (GRCm38) |
R217H |
possibly damaging |
Het |
| Pcsk4 |
G |
A |
10: 80,323,173 (GRCm38) |
P462L |
probably benign |
Het |
| Pdia5 |
T |
G |
16: 35,456,509 (GRCm38) |
K96N |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 116,373,839 (GRCm38) |
Y707C |
probably damaging |
Het |
| Ppig |
A |
T |
2: 69,749,462 (GRCm38) |
N447Y |
unknown |
Het |
| Ppp1r9b |
T |
C |
11: 95,004,571 (GRCm38) |
L695P |
possibly damaging |
Het |
| Proser1 |
C |
T |
3: 53,478,704 (GRCm38) |
A669V |
probably benign |
Het |
| Rdx |
A |
T |
9: 52,068,870 (GRCm38) |
K254N |
probably damaging |
Het |
| Slc35f2 |
T |
C |
9: 53,798,010 (GRCm38) |
S95P |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,557,362 (GRCm38) |
S1118T |
probably benign |
Het |
| Slf1 |
G |
A |
13: 77,051,168 (GRCm38) |
P698L |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,751,574 (GRCm38) |
E2338G |
probably benign |
Het |
| Taok3 |
T |
A |
5: 117,200,151 (GRCm38) |
Y91* |
probably null |
Het |
| Tbc1d31 |
C |
T |
15: 57,952,816 (GRCm38) |
L649F |
probably damaging |
Het |
| Tdpoz8 |
A |
G |
3: 93,074,565 (GRCm38) |
T223A |
probably benign |
Het |
| Tmem132b |
A |
T |
5: 125,787,646 (GRCm38) |
I939F |
possibly damaging |
Het |
| Trav17 |
T |
A |
14: 53,806,979 (GRCm38) |
Y69N |
probably benign |
Het |
| Trmt13 |
T |
C |
3: 116,594,739 (GRCm38) |
D16G |
probably benign |
Het |
| Upf2 |
T |
A |
2: 5,973,518 (GRCm38) |
Y398N |
unknown |
Het |
| Vmn1r238 |
T |
C |
18: 3,122,875 (GRCm38) |
T180A |
probably benign |
Het |
| Zfp738 |
A |
T |
13: 67,669,553 (GRCm38) |
I773N |
probably benign |
Het |
| Zscan4e |
A |
T |
7: 11,307,153 (GRCm38) |
M264K |
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 |
|
|
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 |
|
RF029:Hic1
|
UTSW |
11 |
75,169,442 (GRCm38) |
small deletion |
probably benign |
|
|
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'- CATATAGCTCAGCGCAGTGG -3'
(R):5'- TGCTAAACCTGGACCATGACATG -3'
Sequencing Primer
(F):5'- CAGCGCAGTGGGTGTTGAC -3'
(R):5'- ATGACATGGTGAGCCCGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation