Incidental Mutation 'R3801:1700011L22Rik'
ID 272984
Institutional Source Beutler Lab
Gene Symbol 1700011L22Rik
Ensembl Gene ENSMUSG00000031682
Gene Name RIKEN cDNA 1700011L22 gene
Synonyms
MMRRC Submission 040760-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R3801 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 79937060-79975199 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79974922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 54 (E54K)
Ref Sequence ENSEMBL: ENSMUSP00000034109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034109]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034109
AA Change: E54K

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210889
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A C 1: 59,206,358 (GRCm39) M1634R probably damaging Het
Ankfy1 T C 11: 72,640,246 (GRCm39) S531P probably benign Het
Atp6v1e1 A G 6: 120,778,020 (GRCm39) Y172H probably benign Het
Brd1 C T 15: 88,601,243 (GRCm39) V464M probably damaging Het
Btaf1 A T 19: 36,963,948 (GRCm39) T840S probably benign Het
Btaf1 A T 19: 36,966,373 (GRCm39) H1047L probably benign Het
Cacnb2 A G 2: 14,829,074 (GRCm39) D3G possibly damaging Het
Capn13 G A 17: 73,646,396 (GRCm39) P339L probably benign Het
Cgrrf1 G T 14: 47,069,820 (GRCm39) G30C probably damaging Het
Crnkl1 T C 2: 145,761,715 (GRCm39) D614G probably benign Het
Cyp2c23 C T 19: 43,995,478 (GRCm39) V430I probably benign Het
Dazl G A 17: 50,588,309 (GRCm39) R289W probably benign Het
Dsg1b C T 18: 20,523,260 (GRCm39) P96S probably damaging Het
Dusp14 A G 11: 83,939,535 (GRCm39) S169P possibly damaging Het
Egfem1 A G 3: 29,206,075 (GRCm39) D91G probably benign Het
Eif1 A G 11: 100,211,650 (GRCm39) K95E probably damaging Het
Fap C T 2: 62,376,994 (GRCm39) V191I probably benign Het
Flnc T C 6: 29,447,403 (GRCm39) Y1069H probably damaging Het
Fndc7 T C 3: 108,776,464 (GRCm39) T526A possibly damaging Het
Fras1 A T 5: 96,881,791 (GRCm39) T2508S probably benign Het
Gast T C 11: 100,227,636 (GRCm39) S73P probably damaging Het
Grap2 A G 15: 80,507,947 (GRCm39) T4A possibly damaging Het
Grm8 T G 6: 28,125,635 (GRCm39) N164H possibly damaging Het
Hyal5 A T 6: 24,876,523 (GRCm39) H132L probably benign Het
Iqcm C A 8: 76,396,021 (GRCm39) T188K possibly damaging Het
Kank4 A G 4: 98,668,370 (GRCm39) S26P probably damaging Het
Lipo3 C T 19: 33,762,257 (GRCm39) C80Y probably damaging Het
Lrrk2 A G 15: 91,621,314 (GRCm39) R963G probably benign Het
Lrtm2 G A 6: 119,294,444 (GRCm39) T229I probably damaging Het
Mb21d2 A T 16: 28,646,755 (GRCm39) D406E possibly damaging Het
Meikin T A 11: 54,290,697 (GRCm39) probably null Het
Mybl1 A T 1: 9,743,439 (GRCm39) F538I probably damaging Het
Nectin2 T C 7: 19,451,561 (GRCm39) D491G probably benign Het
Nf1 A G 11: 79,450,347 (GRCm39) D511G probably null Het
Nid2 T C 14: 19,860,065 (GRCm39) C1328R probably damaging Het
Nlrp1a T A 11: 71,013,529 (GRCm39) M574L probably benign Het
Nrap C T 19: 56,310,211 (GRCm39) D1595N probably damaging Het
Nrg3 G A 14: 38,098,391 (GRCm39) P496S probably damaging Het
Or4k41 A T 2: 111,279,910 (GRCm39) I142F probably benign Het
Pak3 G A X: 142,492,727 (GRCm39) V87I probably damaging Het
Phf8 T C X: 150,355,572 (GRCm39) S512P possibly damaging Het
Phkb G T 8: 86,648,858 (GRCm39) E225* probably null Het
Plaa T C 4: 94,458,125 (GRCm39) D615G probably damaging Het
Prdm12 A G 2: 31,541,959 (GRCm39) K223E probably damaging Het
Prkd1 C A 12: 50,430,205 (GRCm39) R634L possibly damaging Het
Rassf3 T A 10: 121,250,271 (GRCm39) I181F possibly damaging Het
Samd8 G A 14: 21,825,133 (GRCm39) V30M probably damaging Het
Sema4f A T 6: 82,895,608 (GRCm39) H308Q possibly damaging Het
Skint4 G T 4: 111,975,378 (GRCm39) V113L probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slpi A G 2: 164,198,158 (GRCm39) L12P probably damaging Het
Smco1 A G 16: 32,092,716 (GRCm39) Y129C probably benign Het
Spag17 A G 3: 99,961,169 (GRCm39) K985R possibly damaging Het
Stc1 T C 14: 69,275,924 (GRCm39) I239T probably benign Het
Suclg2 A T 6: 95,474,649 (GRCm39) I372N probably damaging Het
Tmed4 C A 11: 6,224,233 (GRCm39) V80F probably damaging Het
Tnpo2 T A 8: 85,781,800 (GRCm39) probably null Het
Top1 A G 2: 160,544,688 (GRCm39) H268R probably damaging Het
Triobp A T 15: 78,857,900 (GRCm39) Q1167L probably benign Het
Txndc16 G A 14: 45,388,809 (GRCm39) P536L possibly damaging Het
Usp13 C T 3: 32,935,657 (GRCm39) A360V possibly damaging Het
Vhl G A 6: 113,606,423 (GRCm39) V147I probably benign Het
Vldlr A T 19: 27,195,021 (GRCm39) T3S probably damaging Het
Vps54 T A 11: 21,218,832 (GRCm39) D130E probably benign Het
Zfp808 T A 13: 62,319,897 (GRCm39) H375Q probably damaging Het
Zfp87 A T 13: 67,669,334 (GRCm39) N37K probably damaging Het
Other mutations in 1700011L22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02969:1700011L22Rik APN 8 79,946,866 (GRCm39) splice site probably benign
IGL03344:1700011L22Rik APN 8 79,975,005 (GRCm39) missense probably damaging 1.00
IGL02835:1700011L22Rik UTSW 8 79,937,284 (GRCm39) nonsense probably null
R0331:1700011L22Rik UTSW 8 79,956,021 (GRCm39) missense probably benign 0.08
R0904:1700011L22Rik UTSW 8 79,975,118 (GRCm39) start gained probably benign
R3804:1700011L22Rik UTSW 8 79,974,922 (GRCm39) missense probably benign 0.06
R4606:1700011L22Rik UTSW 8 79,937,374 (GRCm39) missense probably benign 0.00
R6045:1700011L22Rik UTSW 8 79,955,996 (GRCm39) missense probably benign 0.00
R6993:1700011L22Rik UTSW 8 79,975,053 (GRCm39) missense possibly damaging 0.91
R7249:1700011L22Rik UTSW 8 79,974,970 (GRCm39) missense probably benign 0.00
R7442:1700011L22Rik UTSW 8 79,946,919 (GRCm39) missense probably damaging 0.99
R8798:1700011L22Rik UTSW 8 79,937,380 (GRCm39) nonsense probably null
Z1177:1700011L22Rik UTSW 8 79,974,925 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTACACAGGGAAGCAGATGTG -3'
(R):5'- AAGAGCTTCCTGCAACTAGGAG -3'

Sequencing Primer
(F):5'- GGAAGCAGATGTGTTAACACTTTTG -3'
(R):5'- CTAGGAGGGAATGAGCGCCTC -3'
Posted On 2015-03-25