Incidental Mutation 'IGL03134:Homer3'
| ID |
453168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Homer3
|
| Ensembl Gene |
ENSMUSG00000003573 |
| Gene Name |
homer scaffolding protein 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
IGL03134 (G1)
|
| Quality Score |
135 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70735529-70747011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70738985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 115
(Y115H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003669]
[ENSMUST00000087467]
[ENSMUST00000110124]
[ENSMUST00000140212]
|
| AlphaFold |
Q99JP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003669
|
| SMART Domains |
Protein: ENSMUSP00000003669
Gene: ENSMUSG00000003573
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
4 |
110 |
4.92e-37 |
SMART |
|
low complexity region
|
198 |
210 |
N/A |
INTRINSIC |
|
PDB:3CVF|D
|
285 |
342 |
2e-10 |
PDB |
|
low complexity region
|
343 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087467
AA Change: Y115H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000084735
Gene: ENSMUSG00000003573
AA Change: Y115H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WH1
|
1 |
107 |
4.2e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110124
|
| SMART Domains |
Protein: ENSMUSP00000105751
Gene: ENSMUSG00000003573
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
4 |
110 |
4.92e-37 |
SMART |
|
low complexity region
|
198 |
210 |
N/A |
INTRINSIC |
|
PDB:3CVF|D
|
285 |
342 |
2e-10 |
PDB |
|
low complexity region
|
343 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135692
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140212
|
| SMART Domains |
Protein: ENSMUSP00000117033
Gene: ENSMUSG00000003573
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
4 |
110 |
4.92e-37 |
SMART |
|
low complexity region
|
198 |
210 |
N/A |
INTRINSIC |
|
PDB:3CVF|D
|
282 |
339 |
2e-10 |
PDB |
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155711
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (66/66) |
| 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 postsynaptic density scaffolding proteins that share a similar domain structure consisting of an N-terminal Enabled/vasodilator-stimulated phosphoprotein homology 1 domain which mediates protein-protein interactions, and a carboxy-terminal coiled-coil domain and two leucine zipper motifs that are involved in self-oligomerization. The encoded protein binds numerous other proteins including group I metabotropic glutamate receptors, inositol 1,4,5-trisphosphate receptors and amyloid precursor proteins and has been implicated in diverse biological functions such as neuronal signaling, T-cell activation and trafficking of amyloid beta peptides. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous mutants exhibit normal sensitivity to cocaine. [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 |
|---|
| 4932414J04Rik |
A |
T |
11: 21,457,249 (GRCm39) |
|
noncoding transcript |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Afdn |
C |
T |
17: 14,066,548 (GRCm39) |
T580I |
probably benign |
Het |
| Ankfy1 |
G |
T |
11: 72,603,011 (GRCm39) |
L13F |
probably damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,111,936 (GRCm39) |
T143A |
probably benign |
Het |
| Arsi |
T |
G |
18: 61,050,424 (GRCm39) |
W436G |
probably damaging |
Het |
| Bcl2l10 |
C |
T |
9: 75,255,480 (GRCm39) |
T99M |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,285,716 (GRCm39) |
Q740R |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,350,651 (GRCm39) |
F398S |
probably damaging |
Het |
| Ccrl2 |
A |
C |
9: 110,884,725 (GRCm39) |
Y258D |
probably damaging |
Het |
| Cemip |
T |
A |
7: 83,648,445 (GRCm39) |
D38V |
probably damaging |
Het |
| Chd6 |
C |
G |
2: 160,807,403 (GRCm39) |
C1937S |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
T |
G |
6: 4,521,387 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
T |
C |
8: 11,290,069 (GRCm39) |
|
probably null |
Het |
| Cops7b |
T |
A |
1: 86,520,056 (GRCm39) |
L69Q |
probably damaging |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Ddx3y |
T |
A |
Y: 1,278,949 (GRCm39) |
D163V |
possibly damaging |
Het |
| Dnajc19 |
A |
G |
3: 34,132,884 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
T |
C |
14: 70,826,149 (GRCm39) |
T288A |
possibly damaging |
Het |
| G2e3 |
T |
A |
12: 51,410,813 (GRCm39) |
|
probably benign |
Het |
| Gimap7 |
A |
G |
6: 48,700,435 (GRCm39) |
N7S |
probably benign |
Het |
| Gkap1 |
G |
A |
13: 58,411,746 (GRCm39) |
|
probably benign |
Het |
| Gm3404 |
G |
A |
5: 146,463,706 (GRCm39) |
R117Q |
probably benign |
Het |
| Herc1 |
T |
TN |
9: 66,341,345 (GRCm39) |
|
probably benign |
Homo |
| Ighv10-1 |
T |
A |
12: 114,442,689 (GRCm39) |
M99L |
probably benign |
Het |
| Kdm2b |
A |
C |
5: 123,070,737 (GRCm39) |
S398R |
probably damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mettl25 |
G |
A |
10: 105,661,888 (GRCm39) |
Q361* |
probably null |
Het |
| Mkrn2 |
T |
A |
6: 115,590,496 (GRCm39) |
I284N |
probably damaging |
Het |
| Mmp14 |
T |
A |
14: 54,676,563 (GRCm39) |
N369K |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Myo6 |
C |
G |
9: 80,199,749 (GRCm39) |
N1019K |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,705,974 (GRCm39) |
V1857I |
probably damaging |
Het |
| Nhsl3 |
A |
G |
4: 129,116,280 (GRCm39) |
S783P |
possibly damaging |
Het |
| Nktr |
T |
C |
9: 121,575,532 (GRCm39) |
S347P |
probably damaging |
Het |
| Nup210 |
T |
G |
6: 91,007,172 (GRCm39) |
D548A |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,098,194 (GRCm39) |
Y1382C |
possibly damaging |
Het |
| Or14c41 |
G |
A |
7: 86,235,220 (GRCm39) |
V246M |
probably damaging |
Het |
| Or1e23 |
T |
A |
11: 73,407,941 (GRCm39) |
Y28F |
probably benign |
Het |
| Pax8 |
T |
C |
2: 24,311,403 (GRCm39) |
|
probably benign |
Het |
| Pcdhgb7 |
A |
G |
18: 37,884,935 (GRCm39) |
Y35C |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,083,316 (GRCm39) |
R145S |
probably benign |
Het |
| Pom121 |
G |
A |
5: 135,410,935 (GRCm39) |
P741S |
unknown |
Het |
| Rarb |
T |
C |
14: 16,436,910 (GRCm38) |
N204D |
probably damaging |
Het |
| Sdc3 |
A |
G |
4: 130,548,815 (GRCm39) |
E337G |
probably benign |
Het |
| Serpina9 |
T |
C |
12: 103,967,696 (GRCm39) |
K233R |
probably null |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
A |
6: 48,427,999 (GRCm39) |
M159K |
probably benign |
Het |
| Stxbp4 |
C |
A |
11: 90,498,010 (GRCm39) |
R96S |
probably damaging |
Het |
| Tg |
A |
C |
15: 66,612,567 (GRCm39) |
E375A |
probably damaging |
Het |
| Tmem176b |
A |
G |
6: 48,815,287 (GRCm39) |
V2A |
probably benign |
Het |
| Toporsl |
G |
A |
4: 52,610,281 (GRCm39) |
C58Y |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Vav3 |
T |
C |
3: 109,470,410 (GRCm39) |
|
probably benign |
Het |
| Zfp180 |
T |
A |
7: 23,804,170 (GRCm39) |
D196E |
possibly damaging |
Het |
| Zfp407 |
C |
T |
18: 84,228,080 (GRCm39) |
S1843N |
probably damaging |
Het |
|
| Other mutations in Homer3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01966:Homer3
|
APN |
8 |
70,742,807 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02493:Homer3
|
APN |
8 |
70,742,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2436:Homer3
|
UTSW |
8 |
70,745,706 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3508:Homer3
|
UTSW |
8 |
70,744,005 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4391:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4392:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4395:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4396:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4397:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4401:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4402:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4445:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4446:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4482:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4488:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4489:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4664:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4666:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4751:Homer3
|
UTSW |
8 |
70,738,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Homer3
|
UTSW |
8 |
70,744,005 (GRCm39) |
missense |
probably benign |
|
|
R5828:Homer3
|
UTSW |
8 |
70,738,956 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6052:Homer3
|
UTSW |
8 |
70,744,076 (GRCm39) |
nonsense |
probably null |
|
|
R6211:Homer3
|
UTSW |
8 |
70,738,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6234:Homer3
|
UTSW |
8 |
70,743,815 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6895:Homer3
|
UTSW |
8 |
70,737,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6914:Homer3
|
UTSW |
8 |
70,744,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6942:Homer3
|
UTSW |
8 |
70,744,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7300:Homer3
|
UTSW |
8 |
70,737,953 (GRCm39) |
start codon destroyed |
probably null |
0.23 |
|
R7391:Homer3
|
UTSW |
8 |
70,742,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7553:Homer3
|
UTSW |
8 |
70,742,774 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7555:Homer3
|
UTSW |
8 |
70,742,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7721:Homer3
|
UTSW |
8 |
70,743,662 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGTCATTTGCCAACTTGC -3'
(R):5'- TCTGTCTCCATAGGCACACC -3'
Sequencing Primer
(F):5'- GGTCATTTGCCAACTTGCTTCAAC -3'
(R):5'- TGTCTCCATAGGCACACCCATAC -3'
|
| Posted On |
2017-01-30 |
Incidental Mutation