Incidental Mutation 'R5632:Arrdc1'
ID439891
Institutional Source Beutler Lab
Gene Symbol Arrdc1
Ensembl Gene ENSMUSG00000026972
Gene Namearrestin domain containing 1
Synonyms
MMRRC Submission 043283-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5632 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location24925352-24935252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24927828 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 43 (T43A)
Ref Sequence ENSEMBL: ENSMUSP00000117372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028349] [ENSMUST00000102935] [ENSMUST00000133934] [ENSMUST00000142887] [ENSMUST00000144963]
Predicted Effect probably benign
Transcript: ENSMUST00000028349
AA Change: T44A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028349
Gene: ENSMUSG00000026972
AA Change: T44A

DomainStartEndE-ValueType
Pfam:Arrestin_N 7 139 8.5e-19 PFAM
Arrestin_C 162 286 1.19e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102935
AA Change: T44A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099999
Gene: ENSMUSG00000026972
AA Change: T44A

DomainStartEndE-ValueType
Pfam:Arrestin_N 7 139 4.1e-31 PFAM
Arrestin_C 162 285 2.7e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129784
Predicted Effect unknown
Transcript: ENSMUST00000132074
AA Change: T13A
SMART Domains Protein: ENSMUSP00000116352
Gene: ENSMUSG00000026972
AA Change: T13A

DomainStartEndE-ValueType
Blast:Arrestin_C 2 84 4e-48 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133396
Predicted Effect probably benign
Transcript: ENSMUST00000133934
SMART Domains Protein: ENSMUSP00000117695
Gene: ENSMUSG00000026972

DomainStartEndE-ValueType
Pfam:Arrestin_N 38 102 1.4e-16 PFAM
Pfam:Arrestin_C 125 210 1.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142887
AA Change: T43A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117372
Gene: ENSMUSG00000026972
AA Change: T43A

DomainStartEndE-ValueType
Pfam:Arrestin_N 6 95 2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144963
SMART Domains Protein: ENSMUSP00000114684
Gene: ENSMUSG00000026972

DomainStartEndE-ValueType
Blast:Arrestin_C 3 58 5e-21 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156706
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mouse embryonic fibroblasts exhibit reduced extracellular vesicle release. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik T C 18: 12,171,583 F72L possibly damaging Het
Abcd4 T C 12: 84,617,302 T7A probably benign Het
Adam33 T G 2: 131,053,442 D619A probably damaging Het
Aldh3b3 C T 19: 3,968,522 probably benign Het
Arhgef15 G A 11: 68,954,051 P240L probably benign Het
Arhgef40 C A 14: 51,994,338 T727K probably damaging Het
Bcl2l15 A G 3: 103,836,062 N93S probably benign Het
Cd5l G T 3: 87,366,107 E128* probably null Het
Cep97 T C 16: 55,915,583 D284G probably benign Het
Ckmt1 T A 2: 121,360,592 S162T probably damaging Het
Clock G A 5: 76,230,338 P572S probably benign Het
Cpeb4 A G 11: 31,889,877 D53G probably damaging Het
Crocc2 T A 1: 93,217,853 S1485R probably damaging Het
Dcaf5 G A 12: 80,397,752 A189V probably damaging Het
Duox2 C T 2: 122,281,455 G1355S probably damaging Het
Fam120b C T 17: 15,403,082 P441S probably benign Het
Fbxo41 A G 6: 85,484,504 L74P probably damaging Het
Gm996 T C 2: 25,579,264 T212A probably benign Het
H2-DMa A G 17: 34,138,001 T158A probably benign Het
Hcar2 T A 5: 123,864,469 T324S probably benign Het
Hif3a T C 7: 17,050,655 I222V possibly damaging Het
Ighv1-7 A G 12: 114,538,881 probably benign Het
Il20 T C 1: 130,907,428 E151G probably benign Het
Jarid2 A G 13: 44,896,290 E236G probably damaging Het
Knl1 T C 2: 119,070,352 S845P probably damaging Het
Lamc2 T C 1: 153,131,890 Y846C probably damaging Het
Lrp5 A G 19: 3,622,512 V599A probably benign Het
Lrrc8b T A 5: 105,480,297 S170T possibly damaging Het
Mex3d T C 10: 80,382,594 K263R probably damaging Het
Mtor A G 4: 148,469,006 K784E possibly damaging Het
Naip5 C A 13: 100,230,662 probably null Het
Ncor1 T C 11: 62,338,234 T609A possibly damaging Het
Ndufs1 C T 1: 63,150,059 A536T probably benign Het
Neto1 A G 18: 86,498,643 I362V probably benign Het
Nfatc3 T C 8: 106,079,057 L178P probably damaging Het
Npdc1 G A 2: 25,408,945 D284N probably damaging Het
Nsd3 C T 8: 25,679,969 T707M probably benign Het
Olfr1013 T C 2: 85,770,269 V156A probably benign Het
Olfr1133 A T 2: 87,645,229 V298E probably damaging Het
Olfr568 A C 7: 102,877,797 S226R probably benign Het
Pcnx T A 12: 81,917,730 S224T probably damaging Het
Peak1 T C 9: 56,257,774 T957A probably damaging Het
Pex7 A T 10: 19,888,737 D153E probably damaging Het
Plscr1 A G 9: 92,266,424 E139G probably damaging Het
Psmb8 T C 17: 34,201,240 Y269H probably benign Het
Secisbp2l C T 2: 125,740,737 G933D possibly damaging Het
Sft2d2 T C 1: 165,185,088 T80A probably damaging Het
Slc12a5 A G 2: 164,987,221 I583M possibly damaging Het
Slc23a4 T C 6: 34,957,022 M49V probably benign Het
Smarcb1 G A 10: 75,904,418 Q309* probably null Het
Sphkap A T 1: 83,278,285 V294E probably benign Het
Stoml1 C A 9: 58,253,370 P35Q probably damaging Het
Timm10b G C 7: 105,641,122 R42P probably damaging Het
Tnfrsf8 A T 4: 145,292,633 S211T possibly damaging Het
Ttn T C 2: 76,705,820 T26738A probably damaging Het
Vps13d A T 4: 145,074,882 Y474N probably damaging Het
Wdr81 A T 11: 75,445,906 F1552L probably damaging Het
Wee1 TCCCC TCCC 7: 110,124,569 probably null Het
Wnt7a A C 6: 91,394,655 Y108* probably null Het
Zfp512b C T 2: 181,585,668 R56K probably benign Het
Other mutations in Arrdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Arrdc1 APN 2 24926152 missense possibly damaging 0.93
IGL02510:Arrdc1 APN 2 24935100 missense probably damaging 1.00
IGL03307:Arrdc1 APN 2 24926342 missense probably damaging 0.99
PIT4378001:Arrdc1 UTSW 2 24926633 missense probably damaging 1.00
R1192:Arrdc1 UTSW 2 24926140 missense probably benign 0.22
R1466:Arrdc1 UTSW 2 24925795 missense probably benign 0.04
R1466:Arrdc1 UTSW 2 24925795 missense probably benign 0.04
R1550:Arrdc1 UTSW 2 24926339 missense probably damaging 1.00
R1584:Arrdc1 UTSW 2 24925795 missense probably benign 0.04
R2061:Arrdc1 UTSW 2 24926352 nonsense probably null
R2157:Arrdc1 UTSW 2 24926975 missense probably damaging 1.00
R4904:Arrdc1 UTSW 2 24926664 missense possibly damaging 0.93
R4946:Arrdc1 UTSW 2 24925848 missense probably benign 0.36
R5766:Arrdc1 UTSW 2 24926405 missense probably damaging 0.99
R6875:Arrdc1 UTSW 2 24925665 missense probably benign 0.19
R7860:Arrdc1 UTSW 2 24926146 missense probably damaging 1.00
R7943:Arrdc1 UTSW 2 24926146 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCCAAGAGACGGTTGCAGG -3'
(R):5'- ATCAGTTTCCTTACCAGCCTGG -3'

Sequencing Primer
(F):5'- GACGGTTGCAGGGAGGG -3'
(R):5'- TGGCAGAACACCAAGACTG -3'
Posted On2016-11-08