Incidental Mutation 'R1211:Arrdc3'
ID |
100703 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arrdc3
|
Ensembl Gene |
ENSMUSG00000074794 |
Gene Name |
arrestin domain containing 3 |
Synonyms |
|
MMRRC Submission |
039280-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.509)
|
Stock # |
R1211 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
81031508-81044161 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81038817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 40
(T40A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125455
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099356]
[ENSMUST00000159690]
[ENSMUST00000161441]
|
AlphaFold |
Q7TPQ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099356
AA Change: T260A
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000096957 Gene: ENSMUSG00000074794 AA Change: T260A
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 |
possibly damaging
Transcript: ENSMUST00000159690
AA Change: T260A
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000124418 Gene: ENSMUSG00000074794 AA Change: T260A
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 |
possibly damaging
Transcript: ENSMUST00000161441
AA Change: T40A
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000125455 Gene: ENSMUSG00000074794 AA Change: T40A
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: 99.3%
- 3x: 98.2%
- 10x: 95.3%
- 20x: 89.2%
|
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: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra3 |
T |
C |
5: 50,164,218 (GRCm39) |
M254V |
possibly damaging |
Het |
Cntnap1 |
C |
A |
11: 101,075,536 (GRCm39) |
Q905K |
probably damaging |
Het |
Dclk1 |
A |
G |
3: 55,288,244 (GRCm39) |
I256V |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Erlec1 |
A |
G |
11: 30,898,298 (GRCm39) |
|
probably null |
Het |
Gm10160 |
A |
T |
7: 81,505,497 (GRCm39) |
Y16N |
probably benign |
Het |
Gm10608 |
C |
CNNNNNNNN |
9: 118,989,780 (GRCm39) |
|
probably null |
Het |
H2-T13 |
A |
T |
17: 36,391,965 (GRCm39) |
V207D |
probably damaging |
Het |
Kcna4 |
AGAGGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGGAGG |
2: 107,125,660 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,357,999 (GRCm39) |
D4488E |
probably benign |
Het |
Ndufaf1 |
A |
G |
2: 119,486,156 (GRCm39) |
S319P |
probably damaging |
Het |
Or5h25 |
A |
C |
16: 58,930,523 (GRCm39) |
V150G |
possibly damaging |
Het |
Smad4 |
T |
C |
18: 73,782,982 (GRCm39) |
|
probably null |
Het |
Spaca7 |
T |
C |
8: 12,623,139 (GRCm39) |
S12P |
probably damaging |
Het |
Stx11 |
A |
G |
10: 12,817,155 (GRCm39) |
S190P |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGCCGAGATTGAGAACTGCTCTTC -3'
(R):5'- CTCATGCTACACTGACTGCTCACAC -3'
Sequencing Primer
(F):5'- GAGAACTGCTCTTCCCGAATG -3'
(R):5'- TGAGGTTCTGCTACCAAACG -3'
|
Posted On |
2014-01-15 |