Incidental Mutation 'IGL00418:Homer1'
| ID |
4267 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Homer1
|
| Ensembl Gene |
ENSMUSG00000007617 |
| Gene Name |
homer scaffolding protein 1 |
| Synonyms |
PSD-Zip45, Ves-1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.810)
|
| Stock # |
IGL00418
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
93436143-93541637 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 93524196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060490]
[ENSMUST00000079086]
[ENSMUST00000080127]
[ENSMUST00000109494]
[ENSMUST00000109495]
[ENSMUST00000109496]
[ENSMUST00000109497]
[ENSMUST00000109498]
|
| AlphaFold |
Q9Z2Y3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060490
|
| SMART Domains |
Protein: ENSMUSP00000050471
Gene: ENSMUSG00000007617
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
1 |
107 |
4.27e-46 |
SMART |
|
low complexity region
|
255 |
268 |
N/A |
INTRINSIC |
|
PDB:3CVE|D
|
290 |
354 |
2e-34 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079086
|
| SMART Domains |
Protein: ENSMUSP00000078093
Gene: ENSMUSG00000007617
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
17 |
123 |
2.73e-44 |
SMART |
|
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
|
PDB:3CVE|D
|
306 |
370 |
3e-34 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080127
|
| SMART Domains |
Protein: ENSMUSP00000079026
Gene: ENSMUSG00000007617
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
1 |
107 |
4.27e-46 |
SMART |
|
low complexity region
|
267 |
280 |
N/A |
INTRINSIC |
|
PDB:3CVE|D
|
302 |
366 |
2e-34 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109494
|
| SMART Domains |
Protein: ENSMUSP00000105120
Gene: ENSMUSG00000007617
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
1 |
107 |
4.27e-46 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109495
|
| SMART Domains |
Protein: ENSMUSP00000105121
Gene: ENSMUSG00000007617
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
1 |
107 |
4.27e-46 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109496
|
| SMART Domains |
Protein: ENSMUSP00000105122
Gene: ENSMUSG00000007617
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
1 |
107 |
1.01e-38 |
SMART |
|
low complexity region
|
125 |
138 |
N/A |
INTRINSIC |
|
PDB:3CVE|D
|
160 |
224 |
2e-35 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109497
|
| SMART Domains |
Protein: ENSMUSP00000105123
Gene: ENSMUSG00000007617
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
81 |
94 |
N/A |
INTRINSIC |
|
PDB:3CVE|D
|
116 |
180 |
9e-36 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109498
|
| SMART Domains |
Protein: ENSMUSP00000105124
Gene: ENSMUSG00000007617
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
|
PDB:3CVE|D
|
128 |
192 |
9e-36 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit an increase in spontaneous calcium influx in pancreatic acinar cells. Mice homozygous for a knock-out allele exhibit decreased response to formalin-induced pain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
G |
12: 55,095,748 (GRCm39) |
I238T |
probably damaging |
Het |
| Akap4 |
T |
C |
X: 6,942,729 (GRCm39) |
V344A |
possibly damaging |
Het |
| Apex2 |
T |
C |
X: 149,355,048 (GRCm39) |
K430E |
probably benign |
Het |
| Aqp9 |
C |
T |
9: 71,040,013 (GRCm39) |
A90T |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,558,642 (GRCm39) |
|
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Bspry |
G |
T |
4: 62,414,342 (GRCm39) |
D312Y |
probably benign |
Het |
| Cdh16 |
G |
A |
8: 105,350,045 (GRCm39) |
R5W |
probably benign |
Het |
| Ciz1 |
C |
T |
2: 32,262,400 (GRCm39) |
R461C |
probably damaging |
Het |
| Cldn14 |
T |
A |
16: 93,716,189 (GRCm39) |
D219V |
probably benign |
Het |
| Clpb |
A |
T |
7: 101,436,952 (GRCm39) |
T706S |
probably benign |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,669 (GRCm39) |
M90K |
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,332,853 (GRCm39) |
I498F |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,385,892 (GRCm39) |
|
probably benign |
Het |
| Dpyd |
T |
A |
3: 118,737,891 (GRCm39) |
F477L |
probably damaging |
Het |
| Dscaml1 |
C |
A |
9: 45,581,498 (GRCm39) |
S439* |
probably null |
Het |
| Faxc |
A |
G |
4: 21,958,490 (GRCm39) |
K216E |
possibly damaging |
Het |
| Fmo1 |
C |
T |
1: 162,663,815 (GRCm39) |
R238Q |
probably damaging |
Het |
| Gm14399 |
G |
A |
2: 174,973,315 (GRCm39) |
R147* |
probably null |
Het |
| H2-Ab1 |
G |
A |
17: 34,486,549 (GRCm39) |
V203M |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,060,570 (GRCm39) |
E2035G |
probably damaging |
Het |
| Hip1 |
A |
G |
5: 135,455,200 (GRCm39) |
I786T |
probably damaging |
Het |
| Igkv9-120 |
A |
G |
6: 68,026,971 (GRCm39) |
D2G |
possibly damaging |
Het |
| Irgm1 |
A |
T |
11: 48,756,832 (GRCm39) |
Y326* |
probably null |
Het |
| Kctd19 |
A |
T |
8: 106,115,095 (GRCm39) |
|
probably null |
Het |
| Large1 |
T |
C |
8: 73,550,469 (GRCm39) |
|
probably null |
Het |
| Mzf1 |
G |
A |
7: 12,778,543 (GRCm39) |
A287V |
possibly damaging |
Het |
| Nes |
A |
T |
3: 87,883,561 (GRCm39) |
K607* |
probably null |
Het |
| Pars2 |
T |
A |
4: 106,511,247 (GRCm39) |
V307E |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,488,785 (GRCm39) |
I1012F |
possibly damaging |
Het |
| Pole |
T |
C |
5: 110,451,431 (GRCm39) |
|
probably benign |
Het |
| Rbm14 |
T |
C |
19: 4,852,576 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
T |
2: 65,594,866 (GRCm39) |
Q1905L |
probably benign |
Het |
| Slc26a2 |
A |
G |
18: 61,331,812 (GRCm39) |
F540L |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,956,640 (GRCm39) |
|
probably benign |
Het |
| Tas2r106 |
T |
C |
6: 131,654,922 (GRCm39) |
|
probably null |
Het |
| Tmem175 |
T |
A |
5: 108,793,732 (GRCm39) |
D287E |
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,787,835 (GRCm39) |
K416R |
probably damaging |
Het |
| Trim2 |
A |
G |
3: 84,115,596 (GRCm39) |
L86P |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,783,544 (GRCm39) |
N240K |
probably damaging |
Het |
| Wdr90 |
A |
C |
17: 26,068,338 (GRCm39) |
I1330S |
probably damaging |
Het |
| Wfdc6a |
A |
G |
2: 164,426,914 (GRCm39) |
|
probably null |
Het |
| Zc3h12c |
C |
T |
9: 52,027,965 (GRCm39) |
V466M |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,768,543 (GRCm39) |
T1025A |
probably damaging |
Het |
|
| Other mutations in Homer1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Homer1
|
APN |
13 |
93,538,622 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00479:Homer1
|
APN |
13 |
93,483,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4151001:Homer1
|
UTSW |
13 |
93,485,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Homer1
|
UTSW |
13 |
93,528,254 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3025:Homer1
|
UTSW |
13 |
93,538,582 (GRCm39) |
nonsense |
probably null |
|
|
R3437:Homer1
|
UTSW |
13 |
93,502,929 (GRCm39) |
intron |
probably benign |
|
|
R4418:Homer1
|
UTSW |
13 |
93,538,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Homer1
|
UTSW |
13 |
93,538,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4718:Homer1
|
UTSW |
13 |
93,528,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5413:Homer1
|
UTSW |
13 |
93,528,287 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5665:Homer1
|
UTSW |
13 |
93,492,610 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5798:Homer1
|
UTSW |
13 |
93,538,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6092:Homer1
|
UTSW |
13 |
93,502,945 (GRCm39) |
intron |
probably benign |
|
|
R6486:Homer1
|
UTSW |
13 |
93,528,233 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6617:Homer1
|
UTSW |
13 |
93,478,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7101:Homer1
|
UTSW |
13 |
93,492,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7384:Homer1
|
UTSW |
13 |
93,529,547 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8362:Homer1
|
UTSW |
13 |
93,502,797 (GRCm39) |
missense |
unknown |
|
|
R8772:Homer1
|
UTSW |
13 |
93,528,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation