Incidental Mutation 'IGL02006:Arrdc3'
ID |
183205 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arrdc3
|
Ensembl Gene |
ENSMUSG00000074794 |
Gene Name |
arrestin domain containing 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.509)
|
Stock # |
IGL02006
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
81031508-81044161 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 81031893 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 42
(I42N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099356]
[ENSMUST00000159690]
[ENSMUST00000161441]
|
AlphaFold |
Q7TPQ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099356
AA Change: I42N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000096957 Gene: ENSMUSG00000074794 AA Change: I42N
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 damaging
Transcript: ENSMUST00000159690
AA Change: I42N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124418 Gene: ENSMUSG00000074794 AA Change: I42N
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: 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 |
|
Coding Region Coverage |
|
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 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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
G |
A |
4: 86,117,582 (GRCm39) |
G182S |
probably damaging |
Het |
Akr1b7 |
A |
T |
6: 34,392,385 (GRCm39) |
N66I |
probably benign |
Het |
Atp6v0d2 |
G |
T |
4: 19,878,325 (GRCm39) |
A316E |
probably damaging |
Het |
Atp8a2 |
A |
G |
14: 60,094,497 (GRCm39) |
V847A |
possibly damaging |
Het |
Ccdc171 |
A |
G |
4: 83,713,479 (GRCm39) |
N1173D |
possibly damaging |
Het |
Crb2 |
A |
C |
2: 37,676,475 (GRCm39) |
D152A |
probably damaging |
Het |
Ecm1 |
T |
C |
3: 95,641,557 (GRCm39) |
E559G |
probably damaging |
Het |
Ephb1 |
A |
G |
9: 102,071,971 (GRCm39) |
|
probably null |
Het |
Fndc11 |
C |
A |
2: 180,863,884 (GRCm39) |
R230S |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,911,037 (GRCm39) |
|
probably null |
Het |
Fyco1 |
G |
A |
9: 123,658,896 (GRCm39) |
Q427* |
probably null |
Het |
Gm17541 |
A |
G |
12: 4,739,619 (GRCm39) |
|
probably benign |
Het |
Gm5431 |
C |
T |
11: 48,779,330 (GRCm39) |
V809M |
probably damaging |
Het |
Gm7293 |
A |
G |
9: 51,534,043 (GRCm39) |
|
noncoding transcript |
Het |
Ift52 |
T |
C |
2: 162,865,289 (GRCm39) |
S47P |
probably benign |
Het |
Iqcf6 |
A |
G |
9: 106,504,510 (GRCm39) |
D58G |
probably benign |
Het |
Itm2b |
T |
C |
14: 73,600,488 (GRCm39) |
|
probably benign |
Het |
Jakmip1 |
T |
C |
5: 37,278,331 (GRCm39) |
I536T |
probably damaging |
Het |
Kcnh1 |
T |
G |
1: 191,873,323 (GRCm39) |
M3R |
possibly damaging |
Het |
Kcnh5 |
G |
T |
12: 74,944,322 (GRCm39) |
P976T |
probably damaging |
Het |
Layn |
G |
A |
9: 50,968,591 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
T |
A |
11: 103,347,317 (GRCm39) |
Q3126L |
probably damaging |
Het |
Meioc |
A |
T |
11: 102,565,092 (GRCm39) |
D180V |
probably damaging |
Het |
Myo15a |
T |
A |
11: 60,401,954 (GRCm39) |
C3066S |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,311,418 (GRCm39) |
|
probably null |
Het |
Negr1 |
T |
C |
3: 156,721,810 (GRCm39) |
|
probably benign |
Het |
Nek1 |
T |
A |
8: 61,557,226 (GRCm39) |
N940K |
probably benign |
Het |
Nfkbib |
A |
T |
7: 28,465,667 (GRCm39) |
|
probably null |
Het |
Nol4 |
T |
A |
18: 23,054,975 (GRCm39) |
T152S |
probably damaging |
Het |
Oas3 |
G |
T |
5: 120,907,300 (GRCm39) |
R446S |
probably benign |
Het |
Oosp3 |
C |
T |
19: 11,676,784 (GRCm39) |
L48F |
probably damaging |
Het |
Or2r3 |
A |
G |
6: 42,449,025 (GRCm39) |
V29A |
probably benign |
Het |
Or2w25 |
T |
C |
11: 59,503,985 (GRCm39) |
L65P |
probably damaging |
Het |
Pik3ap1 |
C |
A |
19: 41,291,032 (GRCm39) |
W500L |
probably benign |
Het |
Ppih |
A |
G |
4: 119,168,779 (GRCm39) |
|
probably benign |
Het |
Ro60 |
G |
T |
1: 143,636,084 (GRCm39) |
|
probably benign |
Het |
Slc7a15 |
T |
C |
12: 8,585,508 (GRCm39) |
|
probably null |
Het |
Srl |
T |
C |
16: 4,315,150 (GRCm39) |
E164G |
probably benign |
Het |
Tbx10 |
C |
A |
19: 4,048,186 (GRCm39) |
T237K |
probably damaging |
Het |
Vwa5b2 |
T |
C |
16: 20,415,843 (GRCm39) |
V392A |
probably damaging |
Het |
Wfdc5 |
A |
T |
2: 164,024,483 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,342,306 (GRCm39) |
F1516L |
possibly damaging |
Het |
Znfx1 |
A |
G |
2: 166,897,683 (GRCm39) |
C414R |
probably damaging |
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 |
|
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 |
R4446:Arrdc3
|
UTSW |
13 |
81,037,182 (GRCm39) |
intron |
probably benign |
|
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 |
|
|
Posted On |
2014-05-07 |