Incidental Mutation 'R5196:1700001O22Rik'
ID 400214
Institutional Source Beutler Lab
Gene Symbol 1700001O22Rik
Ensembl Gene ENSMUSG00000044320
Gene Name RIKEN cDNA 1700001O22 gene
Synonyms
MMRRC Submission 042772-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5196 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 30684781-30693673 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30686450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 281 (T281A)
Ref Sequence ENSEMBL: ENSMUSP00000058055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050003]
AlphaFold A2APZ1
Predicted Effect possibly damaging
Transcript: ENSMUST00000050003
AA Change: T281A

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000058055
Gene: ENSMUSG00000044320
AA Change: T281A

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: ENSMUST00000133380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140168
Meta Mutation Damage Score 0.0966 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A G 3: 146,352,018 (GRCm39) probably benign Het
6330409D20Rik T A 2: 32,630,552 (GRCm39) probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Amigo2 A G 15: 97,143,942 (GRCm39) F160S probably damaging Het
Arcn1 A T 9: 44,671,324 (GRCm39) L68M probably damaging Het
Arhgef25 A G 10: 127,020,978 (GRCm39) S303P probably damaging Het
Asph A T 4: 9,607,830 (GRCm39) S163T probably damaging Het
Birc6 T C 17: 74,913,136 (GRCm39) probably benign Het
Bltp3a A G 17: 28,075,737 (GRCm39) I5V probably benign Het
Ccm2 G A 11: 6,511,181 (GRCm39) probably benign Het
Cdc42bpa T C 1: 179,899,978 (GRCm39) V431A probably benign Het
Cdh20 T A 1: 110,065,730 (GRCm39) M668K probably damaging Het
Cfap43 A T 19: 47,814,364 (GRCm39) W157R probably damaging Het
Chrm5 T C 2: 112,310,729 (GRCm39) Y129C probably damaging Het
Chrna5 A G 9: 54,913,803 (GRCm39) I421V possibly damaging Het
Clk1 T A 1: 58,453,772 (GRCm39) T301S probably benign Het
Col6a3 G T 1: 90,744,260 (GRCm39) probably null Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxw19 T C 9: 109,313,496 (GRCm39) Y234C probably benign Het
Fgd4 T A 16: 16,302,006 (GRCm39) N183I probably benign Het
Fnip2 T C 3: 79,479,845 (GRCm39) probably benign Het
Gask1a T G 9: 121,794,727 (GRCm39) S294A probably benign Het
Gm9847 T A 12: 14,545,016 (GRCm39) noncoding transcript Het
H2-T23 A G 17: 36,343,499 (GRCm39) probably null Het
Hdlbp T C 1: 93,347,915 (GRCm39) E613G probably damaging Het
Kat6a G A 8: 23,401,729 (GRCm39) R366H probably damaging Het
Kctd4 A G 14: 76,200,127 (GRCm39) T33A probably benign Het
Klrb1c T A 6: 128,757,262 (GRCm39) S268C probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrfip1 A G 1: 91,042,330 (GRCm39) E245G probably damaging Het
Mast3 A T 8: 71,240,889 (GRCm39) I220N probably damaging Het
Mfap3 A G 11: 57,420,639 (GRCm39) T207A probably damaging Het
Mtdh G T 15: 34,118,150 (GRCm39) K75N probably damaging Het
Mybpc1 A G 10: 88,372,213 (GRCm39) Y806H probably damaging Het
Ntng1 T C 3: 109,842,299 (GRCm39) D158G probably damaging Het
Odr4 T A 1: 150,258,140 (GRCm39) D165V probably damaging Het
Or5d46 A G 2: 88,170,092 (GRCm39) Y61C possibly damaging Het
Or6c216 T A 10: 129,678,650 (GRCm39) D87V possibly damaging Het
Pask A G 1: 93,237,805 (GRCm39) probably benign Het
Pif1 G T 9: 65,495,374 (GRCm39) A95S probably benign Het
Plppr2 T C 9: 21,852,428 (GRCm39) F104S probably damaging Het
Prmt9 G A 8: 78,291,626 (GRCm39) V333M probably benign Het
Pten A T 19: 32,792,897 (GRCm39) M239L probably benign Het
Rb1cc1 A G 1: 6,304,454 (GRCm39) D67G probably damaging Het
Reg2 T A 6: 78,382,530 (GRCm39) L12* probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc5a7 C A 17: 54,588,750 (GRCm39) probably null Het
Tcaf3 G T 6: 42,570,649 (GRCm39) R368S probably benign Het
Tfcp2 A G 15: 100,418,595 (GRCm39) V189A probably damaging Het
Wdr12 T C 1: 60,126,243 (GRCm39) S191G probably damaging Het
Zfp536 G A 7: 37,180,185 (GRCm39) R807W probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L 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
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 PCR Primer
(F):5'- GTTCCTGAGCTGACCTGATG -3'
(R):5'- AACCCAGGACTTCTCTGGAG -3'

Sequencing Primer
(F):5'- CTGAGCTGACCTGATGGGGAG -3'
(R):5'- AGGACTTCTCTGGAGGCAAC -3'
Posted On 2016-07-06