Incidental Mutation 'R4446:Arrdc3'
ID |
329910 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arrdc3
|
Ensembl Gene |
ENSMUSG00000074794 |
Gene Name |
arrestin domain containing 3 |
Synonyms |
|
MMRRC Submission |
041707-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.509)
|
Stock # |
R4446 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
81031508-81044161 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 81037182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125455
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099356]
[ENSMUST00000159690]
[ENSMUST00000161441]
|
AlphaFold |
Q7TPQ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099356
|
SMART Domains |
Protein: ENSMUSP00000096957 Gene: ENSMUSG00000074794
Domain | Start | End | E-Value | Type |
Pfam:Arrestin_N
|
9 |
165 |
3.4e-35 |
PFAM |
Arrestin_C
|
187 |
314 |
1.25e-29 |
SMART |
low complexity region
|
319 |
331 |
N/A |
INTRINSIC |
low complexity region
|
335 |
347 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159090
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159690
|
SMART Domains |
Protein: ENSMUSP00000124418 Gene: ENSMUSG00000074794
Domain | Start | End | E-Value | Type |
Pfam:Arrestin_N
|
9 |
165 |
3.5e-38 |
PFAM |
Arrestin_C
|
187 |
314 |
1.25e-29 |
SMART |
low complexity region
|
319 |
331 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159856
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161006
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161441
|
SMART Domains |
Protein: ENSMUSP00000125455 Gene: ENSMUSG00000074794
Domain | Start | End | E-Value | Type |
Pfam:Arrestin_C
|
4 |
94 |
2e-10 |
PFAM |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162904
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
91% (43/47) |
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 arrestin family of proteins, which regulate G protein-mediated signaling. The encoded protein is thought to act as a regulator of breast cancer growth and progression by binding to a phosphorylated form of integrin beta4, a tumor-related antigen, targeting the integrin for internalization and degradation. [provided by RefSeq, Jul 2016] PHENOTYPE: Mice homozygous for a gene trap allele exhibit resistance to age-related obesity, insulin resistance, and hepatic steatosis. Mice homozygous for a different gene trap allele exhibit resistance to obesity, embryonic lethality when dams are fed a standard chow and dandruff due to very thin skin. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730013G03Rik |
T |
A |
1: 192,515,731 (GRCm39) |
|
noncoding transcript |
Het |
Adgrg6 |
A |
G |
10: 14,285,507 (GRCm39) |
S1160P |
probably damaging |
Het |
Akt1 |
C |
T |
12: 112,625,567 (GRCm39) |
R144H |
probably benign |
Het |
Asxl2 |
T |
A |
12: 3,551,774 (GRCm39) |
V1172E |
possibly damaging |
Het |
Atp9a |
C |
T |
2: 168,523,917 (GRCm39) |
A242T |
possibly damaging |
Het |
C2cd3 |
C |
T |
7: 100,023,684 (GRCm39) |
T90I |
probably damaging |
Het |
C4bp |
A |
G |
1: 130,570,692 (GRCm39) |
S295P |
probably benign |
Het |
Cdkl2 |
G |
A |
5: 92,168,168 (GRCm39) |
T342I |
probably benign |
Het |
Cep131 |
T |
C |
11: 119,955,645 (GRCm39) |
E1025G |
probably damaging |
Het |
Crot |
T |
C |
5: 9,023,643 (GRCm39) |
H415R |
probably damaging |
Het |
Cyp17a1 |
A |
G |
19: 46,656,462 (GRCm39) |
F411L |
probably damaging |
Het |
Dgkb |
G |
T |
12: 38,234,952 (GRCm39) |
G439V |
probably damaging |
Het |
Dgkh |
A |
G |
14: 78,865,523 (GRCm39) |
V20A |
probably damaging |
Het |
Dipk1a |
T |
C |
5: 108,072,500 (GRCm39) |
Y52C |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,182,854 (GRCm39) |
N2035S |
probably damaging |
Het |
Fzd1 |
A |
G |
5: 4,805,777 (GRCm39) |
Y602H |
probably damaging |
Het |
Gm38706 |
C |
A |
6: 130,460,273 (GRCm39) |
|
noncoding transcript |
Het |
Hmmr |
T |
C |
11: 40,606,148 (GRCm39) |
Q274R |
probably damaging |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Igsf9b |
A |
G |
9: 27,245,548 (GRCm39) |
T1172A |
probably benign |
Het |
Klf5 |
C |
T |
14: 99,539,666 (GRCm39) |
R360C |
probably damaging |
Het |
Lrat |
A |
G |
3: 82,804,293 (GRCm39) |
M228T |
probably damaging |
Het |
Mms19 |
A |
T |
19: 41,952,372 (GRCm39) |
M119K |
possibly damaging |
Het |
Myo3a |
A |
T |
2: 22,490,149 (GRCm39) |
K565N |
probably damaging |
Het |
Or10n1 |
A |
T |
9: 39,525,294 (GRCm39) |
I144L |
probably benign |
Het |
Or1ad6 |
C |
T |
11: 50,860,690 (GRCm39) |
P282S |
probably damaging |
Het |
Or3a1d |
T |
C |
11: 74,237,588 (GRCm39) |
D274G |
probably benign |
Het |
Pcdha6 |
A |
G |
18: 37,100,813 (GRCm39) |
D2G |
probably benign |
Het |
Pcdhga3 |
A |
G |
18: 37,808,938 (GRCm39) |
R464G |
probably damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Pramel42 |
T |
A |
5: 94,685,702 (GRCm39) |
I454K |
probably damaging |
Het |
Rnf13 |
A |
C |
3: 57,728,010 (GRCm39) |
K230T |
probably damaging |
Het |
Sema6d |
A |
G |
2: 124,505,979 (GRCm39) |
M596V |
probably damaging |
Het |
Slc25a25 |
T |
C |
2: 32,320,621 (GRCm39) |
K47E |
probably benign |
Het |
Sptbn1 |
C |
T |
11: 30,089,114 (GRCm39) |
R716H |
possibly damaging |
Het |
Ssx2ip |
G |
A |
3: 146,132,186 (GRCm39) |
V216I |
probably benign |
Het |
Tatdn2 |
T |
G |
6: 113,679,501 (GRCm39) |
|
probably null |
Het |
Tmprss6 |
A |
G |
15: 78,337,039 (GRCm39) |
Y356H |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,687,210 (GRCm39) |
|
probably benign |
Het |
Umod |
A |
G |
7: 119,065,279 (GRCm39) |
|
probably null |
Het |
Vmn2r93 |
T |
A |
17: 18,524,312 (GRCm39) |
I102K |
possibly damaging |
Het |
Zdhhc6 |
T |
C |
19: 55,291,169 (GRCm39) |
I349V |
probably benign |
Het |
|
Other mutations in Arrdc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00272:Arrdc3
|
APN |
13 |
81,038,691 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00933:Arrdc3
|
APN |
13 |
81,039,174 (GRCm39) |
splice site |
probably benign |
|
IGL02006:Arrdc3
|
APN |
13 |
81,031,893 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02009:Arrdc3
|
APN |
13 |
81,041,499 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02272:Arrdc3
|
APN |
13 |
81,039,769 (GRCm39) |
splice site |
probably benign |
|
IGL02634:Arrdc3
|
APN |
13 |
81,038,884 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03337:Arrdc3
|
APN |
13 |
81,038,766 (GRCm39) |
missense |
probably benign |
0.01 |
R0008:Arrdc3
|
UTSW |
13 |
81,039,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R0008:Arrdc3
|
UTSW |
13 |
81,039,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R0008:Arrdc3
|
UTSW |
13 |
81,032,011 (GRCm39) |
nonsense |
probably null |
|
R0838:Arrdc3
|
UTSW |
13 |
81,037,366 (GRCm39) |
splice site |
probably benign |
|
R0843:Arrdc3
|
UTSW |
13 |
81,038,922 (GRCm39) |
splice site |
probably benign |
|
R1211:Arrdc3
|
UTSW |
13 |
81,038,817 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1404:Arrdc3
|
UTSW |
13 |
81,031,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R1404:Arrdc3
|
UTSW |
13 |
81,031,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Arrdc3
|
UTSW |
13 |
81,031,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R4540:Arrdc3
|
UTSW |
13 |
81,038,790 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4718:Arrdc3
|
UTSW |
13 |
81,031,986 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5138:Arrdc3
|
UTSW |
13 |
81,039,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R5814:Arrdc3
|
UTSW |
13 |
81,038,698 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6514:Arrdc3
|
UTSW |
13 |
81,037,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R6899:Arrdc3
|
UTSW |
13 |
81,037,330 (GRCm39) |
missense |
probably damaging |
0.99 |
R6985:Arrdc3
|
UTSW |
13 |
81,031,776 (GRCm39) |
missense |
probably damaging |
0.99 |
R7076:Arrdc3
|
UTSW |
13 |
81,038,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R7670:Arrdc3
|
UTSW |
13 |
81,037,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R8342:Arrdc3
|
UTSW |
13 |
81,031,790 (GRCm39) |
missense |
probably benign |
0.09 |
R8981:Arrdc3
|
UTSW |
13 |
81,038,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R9163:Arrdc3
|
UTSW |
13 |
81,041,506 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAAGATCTTTCCCCGGTGAC -3'
(R):5'- GCTTTATTAGAGCTATGGAGATTGC -3'
Sequencing Primer
(F):5'- CCGGTGACTTATCCCTTTGGAAAG -3'
(R):5'- CCAGAATTCAGTCAGTTCTTACCAG -3'
|
Posted On |
2015-07-21 |