Incidental Mutation 'IGL02510:Arrdc1'
ID296502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arrdc1
Ensembl Gene ENSMUSG00000026972
Gene Namearrestin domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02510
Quality Score
Status
Chromosome2
Chromosomal Location24925352-24935252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 24935100 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 16 (V16F)
Ref Sequence ENSEMBL: ENSMUSP00000114684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028349] [ENSMUST00000102935] [ENSMUST00000133934] [ENSMUST00000142887] [ENSMUST00000144963]
Predicted Effect probably damaging
Transcript: ENSMUST00000028349
AA Change: V16F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028349
Gene: ENSMUSG00000026972
AA Change: V16F

DomainStartEndE-ValueType
Pfam:Arrestin_N 7 139 8.5e-19 PFAM
Arrestin_C 162 286 1.19e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102935
AA Change: V16F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099999
Gene: ENSMUSG00000026972
AA Change: V16F

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 probably benign
Transcript: ENSMUST00000132074
SMART Domains Protein: ENSMUSP00000116352
Gene: ENSMUSG00000026972

DomainStartEndE-ValueType
Blast:Arrestin_C 2 84 4e-48 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133396
Predicted Effect probably damaging
Transcript: ENSMUST00000133934
AA Change: V16F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117695
Gene: ENSMUSG00000026972
AA Change: V16F

DomainStartEndE-ValueType
Pfam:Arrestin_N 38 102 1.4e-16 PFAM
Pfam:Arrestin_C 125 210 1.6e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142887
AA Change: V15F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117372
Gene: ENSMUSG00000026972
AA Change: V15F

DomainStartEndE-ValueType
Pfam:Arrestin_N 6 95 2e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000144963
AA Change: V16F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114684
Gene: ENSMUSG00000026972
AA Change: V16F

DomainStartEndE-ValueType
Blast:Arrestin_C 3 58 5e-21 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175449
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 G A 1: 171,251,390 S193N probably benign Het
Bsx A T 9: 40,874,221 Q15L possibly damaging Het
Casp8ap2 A G 4: 32,639,704 T253A probably benign Het
Cdkl3 T C 11: 52,011,270 L102P probably damaging Het
Cgnl1 G T 9: 71,725,357 N237K probably benign Het
Cldn14 T A 16: 93,919,956 M1L probably damaging Het
Col1a2 C T 6: 4,516,398 R171C unknown Het
Col7a1 C A 9: 108,973,231 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dhrs2 G A 14: 55,236,075 V64M probably damaging Het
Disp3 G A 4: 148,252,701 H886Y probably benign Het
Dst G A 1: 34,229,251 probably null Het
Fnbp4 T C 2: 90,751,475 V215A probably benign Het
Fzd9 A G 5: 135,249,615 L472P probably damaging Het
Gm5096 A G 18: 87,757,529 Q392R probably benign Het
Hpd C T 5: 123,181,910 R15Q possibly damaging Het
Htra2 A G 6: 83,051,611 V412A probably damaging Het
Ift80 A G 3: 68,898,543 F722S probably benign Het
Kcnq2 T C 2: 181,081,361 T741A probably benign Het
Kl A C 5: 150,989,001 E738D probably damaging Het
Klra4 T A 6: 130,059,543 I178L probably damaging Het
Klra9 T C 6: 130,191,222 E27G probably benign Het
Kntc1 T C 5: 123,819,062 Y2145H probably benign Het
Mbd5 T A 2: 49,257,029 M417K probably benign Het
Med31 C T 11: 72,212,056 M75I probably benign Het
Mpeg1 A T 19: 12,461,424 D82V probably damaging Het
Msto1 A G 3: 88,910,345 Y439H probably damaging Het
Olfr23 G A 11: 73,941,005 G253E probably damaging Het
Olfr332 T C 11: 58,490,539 Y72C probably damaging Het
Olfr344 T C 2: 36,568,681 S28P possibly damaging Het
Olfr488 T A 7: 108,256,141 probably benign Het
Prtg G A 9: 72,890,869 V706M probably damaging Het
Sfxn2 G T 19: 46,588,272 A186S probably benign Het
Slc12a5 A T 2: 164,982,808 probably benign Het
Slc7a3 T C X: 101,082,833 E222G probably benign Het
Stox1 A T 10: 62,664,047 H911Q probably benign Het
Sult3a2 A T 10: 33,766,439 N289K probably benign Het
Supt20 A G 3: 54,715,524 probably benign Het
Tchh A G 3: 93,444,078 E275G unknown Het
Tectb A T 19: 55,191,511 N263I probably damaging Het
Tsga10 C T 1: 37,760,985 R608Q possibly damaging Het
Ttyh3 A G 5: 140,629,464 Y390H probably damaging Het
Utf1 C A 7: 139,944,016 S48* probably null Het
Zfp358 G A 8: 3,496,786 G456D probably benign Het
Zufsp A G 10: 33,930,154 probably null Het
Other mutations in Arrdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Arrdc1 APN 2 24926152 missense possibly damaging 0.93
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
R5632:Arrdc1 UTSW 2 24927828 missense probably benign 0.01
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
Posted On2015-04-16