Incidental Mutation 'R2082:1700001O22Rik'
ID 266055
Institutional Source Beutler Lab
Gene Symbol 1700001O22Rik
Ensembl Gene ENSMUSG00000044320
Gene Name RIKEN cDNA 1700001O22 gene
Synonyms
MMRRC Submission 040087-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2082 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 30684781-30693673 bp(-) (GRCm39)
Type of Mutation splice site (22 bp from exon)
DNA Base Change (assembly) T to A at 30686391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000058055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050003]
AlphaFold A2APZ1
Predicted Effect probably null
Transcript: ENSMUST00000050003
SMART Domains Protein: ENSMUSP00000058055
Gene: ENSMUSG00000044320

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: ENSMUST00000136883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135556
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A G 4: 123,754,769 (GRCm39) I228V probably benign Het
Aco2 T C 15: 81,797,896 (GRCm39) W657R possibly damaging Het
Acsm2 T A 7: 119,179,857 (GRCm39) H333Q probably benign Het
Adamts18 C T 8: 114,501,965 (GRCm39) V299I probably damaging Het
Adat2 G A 10: 13,435,907 (GRCm39) C84Y probably damaging Het
Arhgef11 C T 3: 87,633,303 (GRCm39) T690I possibly damaging Het
Cachd1 A G 4: 100,860,155 (GRCm39) D1242G probably damaging Het
Casp14 A G 10: 78,550,867 (GRCm39) M106T probably benign Het
Ccdc69 T A 11: 54,943,215 (GRCm39) I130F probably damaging Het
Cdk9 A G 2: 32,599,513 (GRCm39) L189P probably damaging Het
Cfhr1 C T 1: 139,478,624 (GRCm39) V249I possibly damaging Het
Chst1 T C 2: 92,444,335 (GRCm39) V269A possibly damaging Het
Col18a1 G T 10: 76,895,127 (GRCm39) P1178Q probably damaging Het
Col6a1 A G 10: 76,545,430 (GRCm39) L1014P probably damaging Het
Crisp3 T C 17: 40,536,751 (GRCm39) Y188C probably damaging Het
Dse G A 10: 34,031,936 (GRCm39) R363C probably damaging Het
Exoc5 T C 14: 49,253,044 (GRCm39) I525V probably benign Het
Fech A T 18: 64,591,260 (GRCm39) I388N probably damaging Het
Fmnl1 T C 11: 103,082,851 (GRCm39) L363P probably damaging Het
Gm10842 T A 11: 105,037,909 (GRCm39) L64Q unknown Het
Gm8225 C A 17: 26,762,670 (GRCm39) P287Q possibly damaging Het
Hsp90aa1 A T 12: 110,659,261 (GRCm39) L512H probably damaging Het
Ifi30 T C 8: 71,216,373 (GRCm39) probably benign Het
Iqsec1 A T 6: 90,671,556 (GRCm39) D115E probably damaging Het
Kcnu1 T A 8: 26,411,577 (GRCm39) L174H probably damaging Het
Krt10 A G 11: 99,279,701 (GRCm39) V153A probably damaging Het
Krt18 G A 15: 101,939,455 (GRCm39) probably null Het
Micu1 A G 10: 59,699,129 (GRCm39) T469A probably benign Het
Mtss2 T C 8: 111,452,889 (GRCm39) probably null Het
Myo10 T A 15: 25,786,079 (GRCm39) F1253L probably damaging Het
N4bp2 A T 5: 65,964,908 (GRCm39) T986S probably damaging Het
Naip6 C A 13: 100,440,852 (GRCm39) probably null Het
Nphp4 G A 4: 152,643,821 (GRCm39) V1117M probably benign Het
Oca2 C A 7: 55,946,885 (GRCm39) Q305K probably benign Het
Or56b34 C T 7: 104,937,710 (GRCm39) Q137* probably null Het
Or5k3 T A 16: 58,969,248 (GRCm39) F12I probably damaging Het
Or7g27 G A 9: 19,250,574 (GRCm39) V273I probably benign Het
P2rx7 A T 5: 122,782,158 (GRCm39) N8Y possibly damaging Het
Pag1 A T 3: 9,764,545 (GRCm39) S203T probably damaging Het
Pfn4 T A 12: 4,825,439 (GRCm39) probably null Het
Pip4k2c T C 10: 127,034,958 (GRCm39) D414G probably damaging Het
Pkp1 T G 1: 135,812,714 (GRCm39) Q329P possibly damaging Het
Polrmt A T 10: 79,579,346 (GRCm39) I135N probably benign Het
Ppa2 G A 3: 133,076,178 (GRCm39) R269H probably benign Het
Ppp3cb T C 14: 20,558,746 (GRCm39) T439A possibly damaging Het
Prkdc A G 16: 15,533,827 (GRCm39) Y1555C probably damaging Het
Ptprh T C 7: 4,553,774 (GRCm39) D859G probably damaging Het
Sema5a T A 15: 32,619,002 (GRCm39) M510K probably benign Het
Slc22a16 A G 10: 40,461,335 (GRCm39) E379G probably benign Het
Slc30a5 C A 13: 100,943,041 (GRCm39) probably null Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tbc1d9 A T 8: 83,997,616 (GRCm39) S1058C probably damaging Het
Tet2 A G 3: 133,191,488 (GRCm39) L982P possibly damaging Het
Tmem101 G T 11: 102,044,203 (GRCm39) T228K probably benign Het
Tshz2 G T 2: 169,728,135 (GRCm39) K441N probably damaging Het
Upf1 A T 8: 70,794,222 (GRCm39) I228N probably damaging Het
Usp32 A T 11: 84,921,338 (GRCm39) I692N probably damaging Het
Vmn2r117 A G 17: 23,679,230 (GRCm39) S665P possibly damaging Het
Vps13b T C 15: 35,910,892 (GRCm39) V3552A possibly damaging Het
Vps35 A T 8: 85,990,094 (GRCm39) M638K possibly damaging Het
Vps41 T G 13: 19,036,521 (GRCm39) I645S probably benign Het
Zfp703 T C 8: 27,469,016 (GRCm39) S227P probably benign 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
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
R5821:1700001O22Rik UTSW 2 30,686,458 (GRCm39) missense possibly damaging 0.61
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
Posted On 2015-02-05