Incidental Mutation 'IGL01100:Arrb1'
| ID |
51535 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arrb1
|
| Ensembl Gene |
ENSMUSG00000018909 |
| Gene Name |
arrestin, beta 1 |
| Synonyms |
beta-arrestin1, 1200006I17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01100
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
99184673-99255978 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 99236420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032995]
[ENSMUST00000098266]
[ENSMUST00000161525]
[ENSMUST00000162404]
[ENSMUST00000179755]
|
| AlphaFold |
Q8BWG8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032995
|
| SMART Domains |
Protein: ENSMUSP00000032995
Gene: ENSMUSG00000018909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
18 |
174 |
2.1e-41 |
PFAM |
|
Arrestin_C
|
193 |
348 |
5.34e-38 |
SMART |
|
low complexity region
|
392 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000098266
|
| SMART Domains |
Protein: ENSMUSP00000095866
Gene: ENSMUSG00000018909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
18 |
174 |
2.1e-41 |
PFAM |
|
Arrestin_C
|
193 |
356 |
2.53e-39 |
SMART |
|
low complexity region
|
400 |
408 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161268
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161525
|
| SMART Domains |
Protein: ENSMUSP00000124483
Gene: ENSMUSG00000018909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
55 |
136 |
7.3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162404
|
| SMART Domains |
Protein: ENSMUSP00000124351
Gene: ENSMUSG00000018909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
36 |
118 |
1.7e-21 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000179755
|
| SMART Domains |
Protein: ENSMUSP00000136963
Gene: ENSMUSG00000018909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
18 |
174 |
2.2e-43 |
PFAM |
|
Arrestin_C
|
193 |
357 |
1.04e-35 |
SMART |
|
low complexity region
|
401 |
409 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired quenching of rod photocurrent flash responses and greater sensitivity to beta-receptor agonist-stimulated ventricular ejection fraction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
G |
11: 9,224,673 (GRCm39) |
|
probably null |
Het |
| Abca8a |
C |
T |
11: 109,949,249 (GRCm39) |
|
probably null |
Het |
| Acad11 |
A |
G |
9: 103,953,607 (GRCm39) |
T32A |
probably damaging |
Het |
| Ak7 |
T |
A |
12: 105,679,833 (GRCm39) |
N122K |
probably benign |
Het |
| Csde1 |
C |
A |
3: 102,947,841 (GRCm39) |
R132S |
possibly damaging |
Het |
| Emilin1 |
A |
G |
5: 31,075,748 (GRCm39) |
H663R |
probably benign |
Het |
| Etaa1 |
A |
G |
11: 17,902,576 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
T |
9: 16,286,524 (GRCm39) |
F1000I |
probably damaging |
Het |
| Foxj2 |
T |
C |
6: 122,805,350 (GRCm39) |
L74P |
probably damaging |
Het |
| Gas6 |
C |
T |
8: 13,525,118 (GRCm39) |
V289M |
probably benign |
Het |
| Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
| Ihh |
C |
T |
1: 74,985,601 (GRCm39) |
A295T |
probably damaging |
Het |
| Ip6k2 |
G |
T |
9: 108,682,943 (GRCm39) |
S305I |
probably damaging |
Het |
| Kcnk2 |
A |
G |
1: 189,072,133 (GRCm39) |
V65A |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,744,809 (GRCm39) |
C1635Y |
probably benign |
Het |
| Klhdc4 |
G |
A |
8: 122,548,582 (GRCm39) |
Q44* |
probably null |
Het |
| Madd |
C |
A |
2: 90,988,385 (GRCm39) |
R1216L |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,401,984 (GRCm39) |
C3076S |
probably damaging |
Het |
| Or1l4 |
A |
T |
2: 37,091,652 (GRCm39) |
H133L |
possibly damaging |
Het |
| Or52e18 |
T |
A |
7: 104,609,202 (GRCm39) |
I246F |
probably benign |
Het |
| Polq |
C |
A |
16: 36,881,474 (GRCm39) |
P934T |
probably benign |
Het |
| Prkaa1 |
A |
T |
15: 5,203,799 (GRCm39) |
K227M |
probably damaging |
Het |
| Psap |
G |
A |
10: 60,135,708 (GRCm39) |
G388S |
probably benign |
Het |
| Repin1 |
A |
G |
6: 48,573,839 (GRCm39) |
E200G |
probably damaging |
Het |
| Samd9l |
C |
A |
6: 3,375,863 (GRCm39) |
S466I |
possibly damaging |
Het |
| Slc5a3 |
A |
G |
16: 91,876,110 (GRCm39) |
|
probably benign |
Het |
| Smg9 |
G |
A |
7: 24,116,376 (GRCm39) |
V314M |
probably damaging |
Het |
| Tktl1 |
G |
A |
X: 73,244,232 (GRCm39) |
R352H |
probably benign |
Het |
| Ube2z |
A |
G |
11: 95,953,849 (GRCm39) |
V123A |
probably damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,535,049 (GRCm39) |
F35I |
probably benign |
Het |
| Zdhhc18 |
A |
T |
4: 133,340,269 (GRCm39) |
Y293N |
probably damaging |
Het |
|
| Other mutations in Arrb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0032:Arrb1
|
UTSW |
7 |
99,231,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0269:Arrb1
|
UTSW |
7 |
99,243,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:Arrb1
|
UTSW |
7 |
99,237,403 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0607:Arrb1
|
UTSW |
7 |
99,237,403 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0617:Arrb1
|
UTSW |
7 |
99,243,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0811:Arrb1
|
UTSW |
7 |
99,247,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0812:Arrb1
|
UTSW |
7 |
99,247,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1523:Arrb1
|
UTSW |
7 |
99,243,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Arrb1
|
UTSW |
7 |
99,231,504 (GRCm39) |
splice site |
probably benign |
|
|
R4410:Arrb1
|
UTSW |
7 |
99,247,503 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6746:Arrb1
|
UTSW |
7 |
99,250,357 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6996:Arrb1
|
UTSW |
7 |
99,240,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7736:Arrb1
|
UTSW |
7 |
99,188,981 (GRCm39) |
missense |
unknown |
|
|
R8144:Arrb1
|
UTSW |
7 |
99,247,659 (GRCm39) |
splice site |
probably null |
|
|
R8780:Arrb1
|
UTSW |
7 |
99,240,568 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9099:Arrb1
|
UTSW |
7 |
99,243,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9156:Arrb1
|
UTSW |
7 |
99,237,280 (GRCm39) |
missense |
|
|
|
R9346:Arrb1
|
UTSW |
7 |
99,242,207 (GRCm39) |
nonsense |
probably null |
|
|
R9393:Arrb1
|
UTSW |
7 |
99,238,891 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-06-21 |
Incidental Mutation