Incidental Mutation 'R1186:1700020N01Rik'
ID 102144
Institutional Source Beutler Lab
Gene Symbol 1700020N01Rik
Ensembl Gene ENSMUSG00000050844
Gene Name RIKEN cDNA 1700020N01 gene
Synonyms
MMRRC Submission 039258-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R1186 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 21469044-21498274 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21497551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 64 (R64Q)
Ref Sequence ENSEMBL: ENSMUSP00000054237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057341]
AlphaFold Q8CF20
Predicted Effect probably benign
Transcript: ENSMUST00000057341
AA Change: R64Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000054237
Gene: ENSMUSG00000050844
AA Change: R64Q

DomainStartEndE-ValueType
KRAB 13 70 1.2e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186635
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.5%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency 97% (69/71)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530068E07Rik G A 11: 52,293,905 (GRCm39) V49I probably benign Het
A2m T C 6: 121,638,493 (GRCm39) S902P probably benign Het
Aatf A T 11: 84,361,375 (GRCm39) probably benign Het
Adamtsl1 A G 4: 86,306,746 (GRCm39) T1395A probably benign Het
Alpk2 T C 18: 65,427,412 (GRCm39) probably null Het
Ank3 G T 10: 69,703,290 (GRCm39) A308S probably damaging Het
Arap1 A G 7: 101,053,476 (GRCm39) probably benign Het
Bltp1 T C 3: 37,050,461 (GRCm39) probably benign Het
C4b T C 17: 34,955,283 (GRCm39) D769G possibly damaging Het
Cep350 A G 1: 155,751,122 (GRCm39) S2017P probably damaging Het
Cfap54 T A 10: 92,711,856 (GRCm39) I2704F unknown Het
Crip2 G A 12: 113,108,579 (GRCm39) probably benign Het
Cyp4f14 T C 17: 33,135,760 (GRCm39) I34V probably benign Het
Dcstamp A G 15: 39,618,025 (GRCm39) probably null Het
Ddx5 T C 11: 106,674,805 (GRCm39) probably null Het
Dnah2 A T 11: 69,406,526 (GRCm39) L572Q probably damaging Het
Espl1 G A 15: 102,212,474 (GRCm39) A527T probably benign Het
Fam83d A G 2: 158,627,094 (GRCm39) D261G probably damaging Het
Fbxo34 T C 14: 47,768,043 (GRCm39) F468L probably damaging Het
Gabarapl1 A T 6: 129,510,368 (GRCm39) probably benign Het
Galnt17 G T 5: 131,140,580 (GRCm39) T179K probably damaging Het
Gm6899 C T 11: 26,543,685 (GRCm39) probably benign Het
Helz2 T A 2: 180,872,921 (GRCm39) R2433W probably damaging Het
Hivep3 T C 4: 119,671,920 (GRCm39) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ica1 A G 6: 8,672,326 (GRCm39) L225P probably damaging Het
Inpp5f T C 7: 128,296,307 (GRCm39) I195T probably benign Het
Isyna1 C A 8: 71,047,851 (GRCm39) N115K probably benign Het
Ly6g6e T C 17: 35,296,984 (GRCm39) F75S probably benign Het
Ly96 A G 1: 16,771,118 (GRCm39) D101G possibly damaging Het
Mapk9 A G 11: 49,769,096 (GRCm39) T243A probably damaging Het
Mcc A G 18: 44,892,470 (GRCm39) V48A probably benign Het
Mcpt2 C T 14: 56,281,402 (GRCm39) probably benign Het
Med24 T C 11: 98,608,583 (GRCm39) probably benign Het
Mtbp G A 15: 55,428,067 (GRCm39) G162S probably null Het
Mtfr2 G A 10: 20,228,598 (GRCm39) C48Y probably benign Het
Naip2 AGGG AGG 13: 100,298,545 (GRCm39) probably null Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Ncoa4-ps A C 12: 119,225,206 (GRCm39) noncoding transcript Het
Nup107 A C 10: 117,613,051 (GRCm39) Y292* probably null Het
Nwd2 C T 5: 63,807,367 (GRCm39) probably benign Het
Nxpe4 A C 9: 48,304,692 (GRCm39) N260H probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or6z7 T C 7: 6,483,541 (GRCm39) I205V probably benign Het
Or8b42 T C 9: 38,342,397 (GRCm39) V273A possibly damaging Het
Or8b47 T C 9: 38,435,453 (GRCm39) S142P probably damaging Het
Or8k37 A T 2: 86,469,807 (GRCm39) L82M probably damaging Het
P2rx7 T C 5: 122,808,514 (GRCm39) Y299H probably damaging Het
Per3 T A 4: 151,110,595 (GRCm39) E401V probably damaging Het
Rbm34 C A 8: 127,692,197 (GRCm39) E182* probably null Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Senp2 T C 16: 21,830,254 (GRCm39) S38P probably damaging Het
Slc36a2 A T 11: 55,055,057 (GRCm39) probably null Het
Spred1 A T 2: 117,008,178 (GRCm39) R361S possibly damaging Het
Spry2 A G 14: 106,130,341 (GRCm39) C282R probably damaging Het
Srp54b T C 12: 55,302,313 (GRCm39) probably benign Het
Taar8c G C 10: 23,977,463 (GRCm39) Y116* probably null Het
Tchh C G 3: 93,355,353 (GRCm39) R1598G unknown Het
Tex15 A G 8: 34,061,661 (GRCm39) M364V probably benign Het
Ttbk1 T C 17: 46,778,057 (GRCm39) R662G probably damaging Het
Ttc5 G A 14: 51,004,683 (GRCm39) Q374* probably null Het
Usp46 C T 5: 74,162,783 (GRCm39) A312T probably benign Het
Vmn1r176 A T 7: 23,535,051 (GRCm39) L34Q probably damaging Het
Vmn1r178 A T 7: 23,593,317 (GRCm39) R122* probably null Het
Vmn2r6 T A 3: 64,472,488 (GRCm39) M78L probably benign Het
Zfp407 A T 18: 84,227,573 (GRCm39) I2012N probably benign Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S probably benign Het
Zfyve26 G A 12: 79,310,723 (GRCm39) L161F probably damaging Het
Other mutations in 1700020N01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03145:1700020N01Rik APN 10 21,469,337 (GRCm39) missense probably damaging 1.00
R0685:1700020N01Rik UTSW 10 21,469,337 (GRCm39) missense probably damaging 1.00
R1626:1700020N01Rik UTSW 10 21,497,571 (GRCm39) missense possibly damaging 0.52
R2507:1700020N01Rik UTSW 10 21,497,681 (GRCm39) utr 3 prime probably benign
R6666:1700020N01Rik UTSW 10 21,469,228 (GRCm39) splice site probably null
R6702:1700020N01Rik UTSW 10 21,497,558 (GRCm39) nonsense probably null
R6703:1700020N01Rik UTSW 10 21,497,558 (GRCm39) nonsense probably null
R8297:1700020N01Rik UTSW 10 21,497,578 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GATGACATCTTCCTGCCTCTGTTGG -3'
(R):5'- AGCAGACGGCATACAGATTGCAC -3'

Sequencing Primer
(F):5'- GGTGACTACTGAGTCTCTAGCTTC -3'
(R):5'- ggaccacaaggcacagaac -3'
Posted On 2014-01-15