Incidental Mutation 'R3437:Homer1'
| ID |
475677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Homer1
|
| Ensembl Gene |
ENSMUSG00000007617 |
| Gene Name |
homer scaffolding protein 1 |
| Synonyms |
PSD-Zip45, Ves-1 |
| MMRRC Submission |
040655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.806)
|
| Stock # |
R3437 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
93436143-93541637 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 93502929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060490]
[ENSMUST00000079086]
[ENSMUST00000080127]
[ENSMUST00000109492]
[ENSMUST00000109493]
[ENSMUST00000109494]
[ENSMUST00000109495]
[ENSMUST00000109498]
[ENSMUST00000109496]
[ENSMUST00000109497]
|
| 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: ENSMUST00000109492
|
| SMART Domains |
Protein: ENSMUSP00000105118
Gene: ENSMUSG00000007617
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
1 |
107 |
4.27e-46 |
SMART |
|
low complexity region
|
191 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000109493
AA Change: V224A
|
| SMART Domains |
Protein: ENSMUSP00000105119
Gene: ENSMUSG00000007617
AA Change: V224A
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
1 |
107 |
4.27e-46 |
SMART |
|
| 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (42/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
G |
6: 121,616,253 (GRCm39) |
L127R |
probably null |
Het |
| Ambp |
T |
C |
4: 63,067,721 (GRCm39) |
E163G |
probably benign |
Het |
| Amy1 |
G |
A |
3: 113,349,658 (GRCm39) |
A504V |
probably damaging |
Het |
| Angptl3 |
A |
T |
4: 98,921,540 (GRCm39) |
K219N |
probably benign |
Het |
| Atp6v1g1 |
A |
G |
4: 63,468,255 (GRCm39) |
N86S |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,713,612 (GRCm39) |
V290A |
probably benign |
Het |
| Bad |
A |
G |
19: 6,919,799 (GRCm39) |
R37G |
probably benign |
Het |
| Bicra |
T |
C |
7: 15,723,223 (GRCm39) |
D98G |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,392,435 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,474,889 (GRCm39) |
T650M |
unknown |
Het |
| Cyp11b2 |
T |
C |
15: 74,727,298 (GRCm39) |
R128G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,229,303 (GRCm39) |
S1974P |
probably damaging |
Het |
| Fabp1 |
T |
C |
6: 71,178,595 (GRCm39) |
L24P |
probably benign |
Het |
| Flnb |
T |
C |
14: 7,942,057 (GRCm38) |
V2345A |
probably damaging |
Het |
| Gmnc |
G |
T |
16: 26,779,217 (GRCm39) |
H221Q |
probably benign |
Het |
| Kit |
A |
G |
5: 75,806,565 (GRCm39) |
D690G |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Mc3r |
C |
T |
2: 172,091,588 (GRCm39) |
T270I |
probably benign |
Het |
| Mrgpra3 |
A |
C |
7: 47,239,314 (GRCm39) |
L204W |
probably damaging |
Het |
| Mroh1 |
C |
T |
15: 76,317,808 (GRCm39) |
T839I |
possibly damaging |
Het |
| Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
| Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,323 (GRCm39) |
I92V |
probably damaging |
Het |
| Or5af1 |
A |
T |
11: 58,722,150 (GRCm39) |
M57L |
probably damaging |
Het |
| P4ha3 |
C |
T |
7: 99,934,831 (GRCm39) |
A31V |
possibly damaging |
Het |
| Plch2 |
A |
G |
4: 155,075,470 (GRCm39) |
|
probably null |
Het |
| Plpp2 |
A |
T |
10: 79,363,647 (GRCm39) |
|
probably null |
Het |
| Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
| Pter |
T |
A |
2: 13,005,805 (GRCm39) |
L326H |
probably benign |
Het |
| Pwwp2a |
C |
T |
11: 43,597,015 (GRCm39) |
Q452* |
probably null |
Het |
| Slc8a2 |
T |
G |
7: 15,892,810 (GRCm39) |
V824G |
probably damaging |
Het |
| Slfn2 |
A |
T |
11: 82,960,390 (GRCm39) |
H123L |
probably benign |
Het |
| Tmem132e |
A |
G |
11: 82,335,156 (GRCm39) |
Y654C |
probably damaging |
Het |
| Trim14 |
C |
T |
4: 46,523,739 (GRCm39) |
V100I |
possibly damaging |
Het |
| Tro |
G |
A |
X: 149,429,252 (GRCm39) |
|
probably benign |
Het |
| Uspl1 |
T |
A |
5: 149,151,507 (GRCm39) |
|
probably benign |
Het |
| Uty |
A |
G |
Y: 1,158,336 (GRCm39) |
I522T |
probably benign |
Het |
| Vmn1r120 |
A |
C |
7: 20,787,582 (GRCm39) |
L43W |
probably damaging |
Het |
| Vmn2r16 |
A |
T |
5: 109,478,362 (GRCm39) |
D39V |
probably damaging |
Het |
| Washc4 |
T |
A |
10: 83,405,866 (GRCm39) |
I454N |
probably benign |
Het |
| Wnt16 |
T |
C |
6: 22,298,133 (GRCm39) |
V333A |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,096,644 (GRCm39) |
|
probably null |
Het |
| Zfy1 |
A |
T |
Y: 726,357 (GRCm39) |
D469E |
possibly damaging |
Het |
|
| Other mutations in Homer1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Homer1
|
APN |
13 |
93,524,196 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-05-11 |
Incidental Mutation