Incidental Mutation 'R1404:Arrdc3'
ID |
188668 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arrdc3
|
Ensembl Gene |
ENSMUSG00000074794 |
Gene Name |
arrestin domain containing 3 |
Synonyms |
|
MMRRC Submission |
039466-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.509)
|
Stock # |
R1404 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
81031508-81044161 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81031973 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 69
(T69A)
|
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: T69A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096957 Gene: ENSMUSG00000074794 AA Change: T69A
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: T69A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124418 Gene: ENSMUSG00000074794 AA Change: T69A
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 |
|
Meta Mutation Damage Score |
0.1992 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
Validation Efficiency |
100% (28/28) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
G |
A |
4: 53,059,253 (GRCm39) |
|
probably benign |
Het |
Actl6a |
T |
C |
3: 32,776,759 (GRCm39) |
|
probably benign |
Het |
Aoc1l1 |
A |
T |
6: 48,952,767 (GRCm39) |
T231S |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,385,371 (GRCm39) |
|
probably benign |
Het |
Bbs2 |
T |
C |
8: 94,808,627 (GRCm39) |
K360R |
probably null |
Het |
Cdh8 |
A |
T |
8: 100,006,250 (GRCm39) |
N112K |
probably damaging |
Het |
Ces5a |
A |
T |
8: 94,228,809 (GRCm39) |
F474I |
probably damaging |
Het |
Dync1i1 |
G |
A |
6: 5,915,876 (GRCm39) |
D253N |
probably damaging |
Het |
Fam151b |
T |
C |
13: 92,610,480 (GRCm39) |
D103G |
probably damaging |
Het |
Fam227b |
A |
G |
2: 125,845,759 (GRCm39) |
L410P |
probably damaging |
Het |
Ihh |
A |
T |
1: 74,990,372 (GRCm39) |
M1K |
probably null |
Het |
Itga6 |
A |
G |
2: 71,669,060 (GRCm39) |
T617A |
probably benign |
Het |
Itpr1 |
T |
A |
6: 108,363,609 (GRCm39) |
C744S |
probably benign |
Het |
Kif5a |
T |
C |
10: 127,081,311 (GRCm39) |
I208V |
probably benign |
Het |
Lama4 |
A |
G |
10: 38,937,387 (GRCm39) |
K659R |
probably benign |
Het |
Lpin3 |
T |
A |
2: 160,734,310 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
A |
4: 123,270,309 (GRCm39) |
E6612V |
probably damaging |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Ncdn |
T |
C |
4: 126,643,833 (GRCm39) |
K330E |
probably benign |
Het |
Neb |
C |
T |
2: 52,073,287 (GRCm39) |
D1975N |
possibly damaging |
Het |
Nell1 |
T |
A |
7: 50,503,621 (GRCm39) |
N675K |
possibly damaging |
Het |
Nlrp6 |
GAGAAGAAGAAGAAGAAGAAGA |
GAGAAGAAGAAGAAGAAGA |
7: 140,504,026 (GRCm39) |
|
probably benign |
Het |
Or4f47 |
G |
A |
2: 111,972,968 (GRCm39) |
R226H |
probably benign |
Het |
Rnf43 |
A |
G |
11: 87,625,003 (GRCm39) |
E737G |
possibly damaging |
Het |
Sardh |
C |
A |
2: 27,129,473 (GRCm39) |
W275L |
probably damaging |
Het |
Sel1l2 |
C |
T |
2: 140,071,979 (GRCm39) |
|
probably benign |
Het |
Sipa1l2 |
G |
A |
8: 126,176,712 (GRCm39) |
H1185Y |
probably damaging |
Het |
Skp2 |
G |
A |
15: 9,117,012 (GRCm39) |
Q298* |
probably null |
Het |
Spag16 |
G |
A |
1: 69,934,439 (GRCm39) |
|
probably benign |
Het |
Spink14 |
A |
G |
18: 44,161,896 (GRCm39) |
|
probably benign |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Stx12 |
T |
A |
4: 132,598,960 (GRCm39) |
I43L |
probably benign |
Het |
Tmc1 |
T |
A |
19: 20,793,548 (GRCm39) |
I538F |
possibly damaging |
Het |
Tollip |
T |
C |
7: 141,438,292 (GRCm39) |
M209V |
probably benign |
Het |
Ttn |
A |
T |
2: 76,643,312 (GRCm39) |
S13202R |
probably damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,786,211 (GRCm39) |
V338D |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,263,471 (GRCm39) |
L767P |
probably damaging |
Het |
Zfp202 |
C |
T |
9: 40,122,792 (GRCm39) |
T518I |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCTTGCACGGCAAAGACACCC -3'
(R):5'- ACGCCTGCATGGATTAAGGCTTAAC -3'
Sequencing Primer
(F):5'- CACCCATCAGTGTTAAGTGAAG -3'
(R):5'- GGCTTAACACGCTTGAACGTC -3'
|
Posted On |
2014-05-09 |