Incidental Mutation 'IGL02627:1700001O22Rik'
ID 301140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700001O22Rik
Ensembl Gene ENSMUSG00000044320
Gene Name RIKEN cDNA 1700001O22 gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02627
Quality Score
Status
Chromosome 2
Chromosomal Location 30684781-30693673 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30685777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 353 (K353M)
Ref Sequence ENSEMBL: ENSMUSP00000058055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050003]
AlphaFold A2APZ1
Predicted Effect probably damaging
Transcript: ENSMUST00000050003
AA Change: K353M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058055
Gene: ENSMUSG00000044320
AA Change: K353M

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: ENSMUST00000133380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139968
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap32 T C 9: 32,157,302 (GRCm39) Y100H probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cfap418 G A 4: 10,898,039 (GRCm39) C207Y probably damaging Het
Ckap5 A T 2: 91,406,366 (GRCm39) N752I probably damaging Het
Dgkz T A 2: 91,769,055 (GRCm39) probably benign Het
Egfr T A 11: 16,819,346 (GRCm39) V292E probably damaging Het
Gnb3 T C 6: 124,811,678 (GRCm39) T329A probably damaging Het
Igkv3-2 A T 6: 70,675,810 (GRCm39) T40S probably damaging Het
Kcnq2 T C 2: 180,724,120 (GRCm39) probably benign Het
Mbip T C 12: 56,382,590 (GRCm39) Q292R probably benign Het
Mgat5b T C 11: 116,874,442 (GRCm39) Y625H probably damaging Het
Ms4a4d A T 19: 11,525,987 (GRCm39) E40D probably damaging Het
Naip1 T C 13: 100,562,156 (GRCm39) E1003G possibly damaging Het
Ncf2 G A 1: 152,686,759 (GRCm39) probably benign Het
Nfkbiz A G 16: 55,636,714 (GRCm39) V529A probably damaging Het
Osr2 A G 15: 35,300,600 (GRCm39) N52S possibly damaging Het
Prag1 A G 8: 36,606,593 (GRCm39) D778G possibly damaging Het
Rsl1d1 G T 16: 11,012,415 (GRCm39) A337E possibly damaging Het
Sall3 A T 18: 81,015,576 (GRCm39) L784Q possibly damaging Het
Spen A G 4: 141,200,326 (GRCm39) I2744T probably damaging Het
Tfip11 A C 5: 112,477,679 (GRCm39) S145R possibly damaging Het
Tonsl T C 15: 76,518,295 (GRCm39) D559G probably damaging Het
Trmt5 A T 12: 73,328,229 (GRCm39) S325T probably damaging Het
Ubr1 A T 2: 120,771,472 (GRCm39) V472D probably damaging Het
Vmn1r30 T A 6: 58,412,746 (GRCm39) T29S probably benign Het
Vps29 T C 5: 122,500,908 (GRCm39) S158P probably benign Het
Wdr82 T C 9: 106,053,886 (GRCm39) V79A possibly damaging Het
Wfdc16 T A 2: 164,480,383 (GRCm39) E37D possibly damaging Het
Other mutations in 1700001O22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:1700001O22Rik APN 2 30,687,948 (GRCm39) missense probably damaging 0.97
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
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
Posted On 2015-04-16