Incidental Mutation 'R5821:1700001O22Rik'
ID 449913
Institutional Source Beutler Lab
Gene Symbol 1700001O22Rik
Ensembl Gene ENSMUSG00000044320
Gene Name RIKEN cDNA 1700001O22 gene
Synonyms
MMRRC Submission 043401-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5821 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 30684781-30693673 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30686458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 278 (V278D)
Ref Sequence ENSEMBL: ENSMUSP00000058055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050003]
AlphaFold A2APZ1
Predicted Effect possibly damaging
Transcript: ENSMUST00000050003
AA Change: V278D

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000058055
Gene: ENSMUSG00000044320
AA Change: V278D

DomainStartEndE-ValueType
low complexity region 79 89 N/A INTRINSIC
low complexity region 130 144 N/A INTRINSIC
Pfam:DUF4685 164 245 2.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139968
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,322,167 (GRCm39) D227G possibly damaging Het
Akap9 A G 5: 4,096,064 (GRCm39) E2313G probably benign Het
Cchcr1 A T 17: 35,839,745 (GRCm39) E564D probably damaging Het
Cers2 G A 3: 95,229,008 (GRCm39) probably benign Het
Cfap161 A G 7: 83,425,188 (GRCm39) I301T probably benign Het
Ciita A T 16: 10,329,669 (GRCm39) E648V possibly damaging Het
Cir1 C T 2: 73,142,804 (GRCm39) C10Y probably damaging Het
Clasp1 T A 1: 118,518,214 (GRCm39) F1087I probably damaging Het
Cped1 C A 6: 22,138,681 (GRCm39) F415L probably benign Het
Dnah7b A G 1: 46,181,292 (GRCm39) T1060A possibly damaging Het
Epha5 G T 5: 84,232,587 (GRCm39) P809H probably damaging Het
Fuca1 T A 4: 135,650,273 (GRCm39) probably null Het
Galnt2l A T 8: 123,627,372 (GRCm39) *98R probably null Het
Gm26796 G A 12: 80,805,564 (GRCm39) R237C unknown Het
Idua A G 5: 108,827,600 (GRCm39) Y138C probably benign Het
Ighd A T 12: 113,373,253 (GRCm39) L240H probably benign Het
Ing2 C G 8: 48,121,861 (GRCm39) C229S probably benign Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kctd8 A T 5: 69,267,828 (GRCm39) N427K probably benign Het
Kif16b T C 2: 142,544,586 (GRCm39) E1147G probably damaging Het
Kif18a G A 2: 109,120,190 (GRCm39) probably benign Het
Krt82 T A 15: 101,456,820 (GRCm39) R187* probably null Het
Lrrk2 T C 15: 91,593,593 (GRCm39) probably null Het
M1ap T C 6: 82,945,083 (GRCm39) Y126H probably benign Het
Mmel1 A G 4: 154,970,044 (GRCm39) N226D possibly damaging Het
Mtmr11 A G 3: 96,075,185 (GRCm39) D353G possibly damaging Het
Nfkbia A T 12: 55,538,005 (GRCm39) H149Q probably damaging Het
Nr5a1 A T 2: 38,598,511 (GRCm39) F95L probably damaging Het
Nutm2 A G 13: 50,623,891 (GRCm39) Y196C probably benign Het
Oxtr A G 6: 112,466,457 (GRCm39) I101T probably damaging Het
Pcsk2 T A 2: 143,591,035 (GRCm39) probably null Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Pign A G 1: 105,516,788 (GRCm39) W585R possibly damaging Het
Pomgnt1 A G 4: 116,012,933 (GRCm39) S407G probably benign Het
Ppfia3 G A 7: 45,003,040 (GRCm39) T372I probably damaging Het
Prrc2b A T 2: 32,102,144 (GRCm39) E739V probably damaging Het
Ro60 A G 1: 143,642,503 (GRCm39) V209A probably benign Het
Scn7a T C 2: 66,574,047 (GRCm39) E192G probably damaging Het
Slmap T C 14: 26,183,435 (GRCm39) D316G probably damaging Het
Smim8 GGTTTAATGAAGAG GG 4: 34,771,259 (GRCm39) probably benign Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Tgm2 T A 2: 157,984,974 (GRCm39) Y44F possibly damaging Het
Tmc8 C A 11: 117,683,455 (GRCm39) S670* probably null Het
Tmem145 A G 7: 25,014,946 (GRCm39) D523G probably benign Het
Vmn2r115 G A 17: 23,566,937 (GRCm39) G483E probably damaging Het
Other mutations in 1700001O22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:1700001O22Rik APN 2 30,687,948 (GRCm39) missense probably damaging 0.97
IGL02627:1700001O22Rik APN 2 30,685,777 (GRCm39) missense probably damaging 1.00
R1236:1700001O22Rik UTSW 2 30,685,756 (GRCm39) missense probably damaging 1.00
R1879:1700001O22Rik UTSW 2 30,686,488 (GRCm39) missense possibly damaging 0.73
R1971:1700001O22Rik UTSW 2 30,686,566 (GRCm39) missense probably benign 0.35
R2082:1700001O22Rik UTSW 2 30,686,391 (GRCm39) splice site probably null
R2107:1700001O22Rik UTSW 2 30,685,744 (GRCm39) missense probably damaging 1.00
R5196:1700001O22Rik UTSW 2 30,686,450 (GRCm39) missense possibly damaging 0.70
R6282:1700001O22Rik UTSW 2 30,690,781 (GRCm39) missense possibly damaging 0.82
R7192:1700001O22Rik UTSW 2 30,686,188 (GRCm39) missense probably damaging 0.99
R7644:1700001O22Rik UTSW 2 30,687,966 (GRCm39) missense possibly damaging 0.92
R8266:1700001O22Rik UTSW 2 30,691,254 (GRCm39) missense possibly damaging 0.67
R9696:1700001O22Rik UTSW 2 30,691,256 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- TTCCTGAGCTGACCTGATGG -3'
(R):5'- TAAAACCCAGGACTTCTCTGGAG -3'

Sequencing Primer
(F):5'- GCTGACCTGATGGGGAGAG -3'
(R):5'- AGGACTTCTCTGGAGGCAAC -3'
Posted On 2016-12-20