Incidental Mutation 'PIT4151001:Homer1'
ID |
557040 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4151001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
93436143-93541637 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 93485724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 118
(K118N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060490]
[ENSMUST00000079086]
[ENSMUST00000080127]
[ENSMUST00000102752]
[ENSMUST00000109492]
[ENSMUST00000109493]
[ENSMUST00000109494]
[ENSMUST00000109495]
[ENSMUST00000109496]
[ENSMUST00000109497]
[ENSMUST00000109498]
|
AlphaFold |
Q9Z2Y3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060490
AA Change: K102N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050471 Gene: ENSMUSG00000007617 AA Change: K102N
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 damaging
Transcript: ENSMUST00000079086
AA Change: K118N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078093 Gene: ENSMUSG00000007617 AA Change: K118N
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 damaging
Transcript: ENSMUST00000080127
AA Change: K102N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079026 Gene: ENSMUSG00000007617 AA Change: K102N
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 |
possibly damaging
Transcript: ENSMUST00000102752
AA Change: K102N
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099813 Gene: ENSMUSG00000007617 AA Change: K102N
Domain | Start | End | E-Value | Type |
WH1
|
1 |
107 |
4.27e-46 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109492
AA Change: K102N
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105118 Gene: ENSMUSG00000007617 AA Change: K102N
Domain | Start | End | E-Value | Type |
WH1
|
1 |
107 |
4.27e-46 |
SMART |
low complexity region
|
191 |
201 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109493
AA Change: K102N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000105119 Gene: ENSMUSG00000007617 AA Change: K102N
Domain | Start | End | E-Value | Type |
WH1
|
1 |
107 |
4.27e-46 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109494
AA Change: K102N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105120 Gene: ENSMUSG00000007617 AA Change: K102N
Domain | Start | End | E-Value | Type |
WH1
|
1 |
107 |
4.27e-46 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109495
AA Change: K102N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105121 Gene: ENSMUSG00000007617 AA Change: K102N
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: 92.7%
- 3x: 90.4%
- 10x: 84.6%
- 20x: 72.1%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,930,670 (GRCm39) |
L1389P |
probably damaging |
Het |
Acot10 |
C |
T |
15: 20,666,684 (GRCm39) |
G19D |
probably damaging |
Het |
Adam20 |
G |
A |
8: 41,248,081 (GRCm39) |
V64I |
possibly damaging |
Het |
Ak6 |
T |
A |
13: 100,791,603 (GRCm39) |
D15E |
probably damaging |
Het |
Atp1a2 |
A |
G |
1: 172,118,288 (GRCm39) |
Y129H |
probably damaging |
Het |
Caskin1 |
C |
T |
17: 24,721,193 (GRCm39) |
T511I |
probably damaging |
Het |
Casp9 |
C |
T |
4: 141,521,259 (GRCm39) |
R32* |
probably null |
Het |
Ccdc40 |
A |
G |
11: 119,133,277 (GRCm39) |
E445G |
probably damaging |
Het |
Cct8 |
T |
C |
16: 87,284,545 (GRCm39) |
E273G |
probably damaging |
Het |
Chd5 |
G |
A |
4: 152,462,986 (GRCm39) |
V1380I |
probably damaging |
Het |
Coro2b |
C |
T |
9: 62,336,286 (GRCm39) |
G272D |
probably damaging |
Het |
Cyp4a10 |
C |
A |
4: 115,382,072 (GRCm39) |
H251Q |
probably damaging |
Het |
Dgki |
A |
T |
6: 37,040,916 (GRCm39) |
H298Q |
probably benign |
Het |
Dnmt3b |
T |
G |
2: 153,526,399 (GRCm39) |
|
probably null |
Het |
Dzip1 |
A |
G |
14: 119,160,200 (GRCm39) |
F3L |
probably damaging |
Het |
Egf |
A |
G |
3: 129,496,198 (GRCm39) |
S807P |
probably benign |
Het |
Emc10 |
C |
T |
7: 44,142,627 (GRCm39) |
R105H |
|
Het |
Enthd1 |
T |
C |
15: 80,336,937 (GRCm39) |
E499G |
probably damaging |
Het |
Eps8l1 |
G |
A |
7: 4,474,414 (GRCm39) |
S295N |
probably benign |
Het |
Fer1l5 |
T |
A |
1: 36,450,728 (GRCm39) |
M1242K |
probably benign |
Het |
Gm3415 |
A |
G |
5: 146,493,079 (GRCm39) |
R36G |
probably benign |
Het |
Gm5797 |
C |
A |
14: 7,330,318 (GRCm38) |
M114I |
possibly damaging |
Het |
Gmppa |
A |
T |
1: 75,418,468 (GRCm39) |
R284* |
probably null |
Het |
Ivl |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,608 (GRCm39) |
|
probably benign |
Het |
Kcnc4 |
G |
A |
3: 107,366,019 (GRCm39) |
A63V |
probably damaging |
Het |
Kif11 |
T |
A |
19: 37,373,045 (GRCm39) |
I88N |
probably damaging |
Het |
Krba1 |
T |
C |
6: 48,379,831 (GRCm39) |
F9S |
probably damaging |
Het |
Nckap1 |
A |
G |
2: 80,350,714 (GRCm39) |
|
probably null |
Het |
Nox4 |
A |
T |
7: 86,954,097 (GRCm39) |
Y134F |
probably benign |
Het |
Or4a79 |
T |
A |
2: 89,552,237 (GRCm39) |
T73S |
probably benign |
Het |
Or51f23c-ps1 |
T |
C |
7: 102,431,465 (GRCm39) |
S261P |
probably benign |
Het |
Or52e15 |
A |
G |
7: 104,645,424 (GRCm39) |
L229P |
probably damaging |
Het |
Or5m13b |
T |
A |
2: 85,754,386 (GRCm39) |
M258K |
probably damaging |
Het |
Or5m8 |
T |
C |
2: 85,822,538 (GRCm39) |
C126R |
probably damaging |
Het |
Or8k22 |
G |
T |
2: 86,163,173 (GRCm39) |
H176N |
possibly damaging |
Het |
Pcdh17 |
G |
T |
14: 84,684,798 (GRCm39) |
V422L |
probably benign |
Het |
Pcx |
T |
A |
19: 4,653,157 (GRCm39) |
V275E |
probably damaging |
Het |
Pde6h |
A |
T |
6: 136,938,185 (GRCm39) |
M53L |
possibly damaging |
Het |
Phactr3 |
A |
T |
2: 177,975,861 (GRCm39) |
E535D |
probably damaging |
Het |
Pkn3 |
C |
A |
2: 29,980,539 (GRCm39) |
T810N |
probably damaging |
Het |
Pnpla5 |
T |
C |
15: 84,002,827 (GRCm39) |
E252G |
probably damaging |
Het |
Pramel21 |
T |
A |
4: 143,342,722 (GRCm39) |
C276* |
probably null |
Het |
Psg17 |
A |
G |
7: 18,548,530 (GRCm39) |
S414P |
probably benign |
Het |
Pzp |
T |
A |
6: 128,502,259 (GRCm39) |
Q30L |
probably benign |
Het |
Reln |
A |
T |
5: 22,491,894 (GRCm39) |
F113I |
possibly damaging |
Het |
Ret |
T |
C |
6: 118,141,702 (GRCm39) |
D975G |
probably benign |
Het |
Sarnp |
A |
G |
10: 128,713,235 (GRCm39) |
I209V |
probably benign |
Het |
Sorl1 |
A |
T |
9: 41,879,918 (GRCm39) |
V2210D |
probably damaging |
Het |
Stard9 |
C |
T |
2: 120,533,237 (GRCm39) |
Q3165* |
probably null |
Het |
Tmem64 |
A |
T |
4: 15,283,159 (GRCm39) |
I319F |
probably damaging |
Het |
Vmn1r176 |
A |
T |
7: 23,534,808 (GRCm39) |
V115D |
probably damaging |
Het |
Vmn1r2 |
A |
G |
4: 3,172,623 (GRCm39) |
T181A |
probably benign |
Het |
Vmn2r2 |
T |
C |
3: 64,024,334 (GRCm39) |
E749G |
possibly damaging |
Het |
Vps35 |
G |
A |
8: 86,010,677 (GRCm39) |
T222I |
possibly damaging |
Het |
Zfp532 |
A |
G |
18: 65,757,485 (GRCm39) |
T473A |
probably damaging |
Het |
Zfyve16 |
A |
G |
13: 92,657,712 (GRCm39) |
V733A |
probably damaging |
Het |
Zranb1 |
T |
A |
7: 132,551,723 (GRCm39) |
S125T |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCAGCTTGCCAAATTATAAC -3'
(R):5'- GCAGTGTACTTCTATACCTACTTTG -3'
Sequencing Primer
(F):5'- CTTCTTTATGTGGTCATGTTTTGAAC -3'
(R):5'- CCTACTTTGGTAATTTATTTTGCCAC -3'
|
Posted On |
2019-06-07 |