Incidental Mutation 'R8362:Homer1'
| ID |
646016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Homer1
|
| Ensembl Gene |
ENSMUSG00000007617 |
| Gene Name |
homer scaffolding protein 1 |
| Synonyms |
PSD-Zip45, Ves-1 |
| MMRRC Submission |
067808-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.810)
|
| Stock # |
R8362 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
93436143-93541637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93502797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 192
(S192T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060490]
[ENSMUST00000079086]
[ENSMUST00000080127]
[ENSMUST00000109492]
[ENSMUST00000109493]
[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 |
unknown
Transcript: ENSMUST00000109492
AA Change: S192T
|
| SMART Domains |
Protein: ENSMUSP00000105118
Gene: ENSMUSG00000007617
AA Change: S192T
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
1 |
107 |
4.27e-46 |
SMART |
|
low complexity region
|
191 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109493
AA Change: F180Y
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105119
Gene: ENSMUSG00000007617
AA Change: F180Y
| 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: 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
A |
19: 8,867,395 (GRCm39) |
S65T |
probably damaging |
Het |
| Abcb1b |
A |
T |
5: 8,848,758 (GRCm39) |
N6I |
probably benign |
Het |
| Abr |
A |
T |
11: 76,369,954 (GRCm39) |
I145N |
probably benign |
Het |
| Alcam |
A |
T |
16: 52,115,387 (GRCm39) |
Y244N |
probably damaging |
Het |
| Amotl1 |
G |
A |
9: 14,556,218 (GRCm39) |
A36V |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,618,797 (GRCm39) |
L1685Q |
probably damaging |
Het |
| Ascc3 |
A |
C |
10: 50,518,692 (GRCm39) |
Q332H |
possibly damaging |
Het |
| Cdc42bpa |
C |
T |
1: 179,989,690 (GRCm39) |
L1720F |
probably damaging |
Het |
| Clec4b1 |
T |
C |
6: 123,027,602 (GRCm39) |
S20P |
probably benign |
Het |
| Cpt1a |
C |
T |
19: 3,420,744 (GRCm39) |
R401* |
probably null |
Het |
| Dnah12 |
T |
A |
14: 26,576,788 (GRCm39) |
Y3013N |
probably damaging |
Het |
| Dop1a |
G |
A |
9: 86,395,941 (GRCm39) |
R801H |
probably benign |
Het |
| Flywch1 |
G |
T |
17: 23,975,682 (GRCm39) |
T520N |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,001,207 (GRCm39) |
S190P |
unknown |
Het |
| Gabra1 |
G |
T |
11: 42,066,831 (GRCm39) |
Q28K |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,615,197 (GRCm39) |
M428V |
possibly damaging |
Het |
| H13 |
T |
A |
2: 152,528,311 (GRCm39) |
I220N |
unknown |
Het |
| Hars2 |
T |
A |
18: 36,923,228 (GRCm39) |
F412L |
probably benign |
Het |
| Hecw2 |
A |
T |
1: 54,079,650 (GRCm39) |
M1K |
probably null |
Het |
| Itga2b |
T |
A |
11: 102,352,189 (GRCm39) |
D464V |
probably damaging |
Het |
| Ivd |
T |
A |
2: 118,708,422 (GRCm39) |
C379S |
probably damaging |
Het |
| Khdc3 |
A |
T |
9: 73,010,848 (GRCm39) |
N233Y |
possibly damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,506,163 (GRCm39) |
V1935A |
probably benign |
Het |
| Lrrfip1 |
T |
A |
1: 90,981,423 (GRCm39) |
L15Q |
probably damaging |
Het |
| Megf8 |
C |
A |
7: 25,039,943 (GRCm39) |
P986Q |
probably benign |
Het |
| Morc2b |
G |
T |
17: 33,357,295 (GRCm39) |
T159K |
possibly damaging |
Het |
| Nudt5 |
A |
G |
2: 5,858,322 (GRCm39) |
|
probably null |
Het |
| Or6c211 |
G |
T |
10: 129,506,100 (GRCm39) |
A96E |
possibly damaging |
Het |
| Paqr5 |
A |
T |
9: 61,879,945 (GRCm39) |
Y116* |
probably null |
Het |
| Pcnx1 |
A |
C |
12: 82,013,830 (GRCm39) |
S623R |
|
Het |
| Polr1a |
T |
C |
6: 71,941,651 (GRCm39) |
V1053A |
probably benign |
Het |
| Ptprt |
A |
T |
2: 161,393,667 (GRCm39) |
D1252E |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,620,246 (GRCm39) |
S189P |
probably damaging |
Het |
| Rasal1 |
C |
T |
5: 120,813,485 (GRCm39) |
R620W |
probably damaging |
Het |
| Rbms1 |
C |
T |
2: 60,793,083 (GRCm39) |
M9I |
probably benign |
Het |
| Ska3 |
T |
C |
14: 58,054,105 (GRCm39) |
N282D |
probably benign |
Het |
| Slc25a24 |
T |
A |
3: 109,065,878 (GRCm39) |
I245N |
possibly damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,594,506 (GRCm39) |
V281I |
probably benign |
Het |
| Smg8 |
A |
T |
11: 86,968,881 (GRCm39) |
Y958* |
probably null |
Het |
| Spata31 |
A |
G |
13: 65,070,044 (GRCm39) |
T731A |
possibly damaging |
Het |
| Spg11 |
G |
T |
2: 121,948,842 (GRCm39) |
A3D |
unknown |
Het |
| Srgap1 |
A |
G |
10: 121,691,383 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,083,988 (GRCm39) |
I396T |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,931,946 (GRCm39) |
T2160A |
probably damaging |
Het |
| Tprg1l |
G |
C |
4: 154,244,815 (GRCm39) |
T91S |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,689,650 (GRCm39) |
V5071I |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,844,954 (GRCm39) |
N772K |
probably damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,103,283 (GRCm39) |
W159R |
probably benign |
Het |
| Vmn2r93 |
G |
A |
17: 18,546,353 (GRCm39) |
V742I |
probably benign |
Het |
| Zc3h13 |
C |
A |
14: 75,561,909 (GRCm39) |
H654N |
unknown |
Het |
| Zfp516 |
T |
C |
18: 83,005,019 (GRCm39) |
L641P |
probably benign |
Het |
| Zfp623 |
T |
C |
15: 75,819,488 (GRCm39) |
V148A |
probably 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 |
|
|
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 |
|
R8772:Homer1
|
UTSW |
13 |
93,528,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTACCACATGCAGAACCTG -3'
(R):5'- CACAGAAGTCAAGCAGGTGTC -3'
Sequencing Primer
(F):5'- GAACCTGCTAGTAGTCAAGTCCTG -3'
(R):5'- AGTCAAGCAGGTGTCTTCTTTTAAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation