Incidental Mutation 'R1549:1700006A11Rik'
ID 169771
Institutional Source Beutler Lab
Gene Symbol 1700006A11Rik
Ensembl Gene ENSMUSG00000027973
Gene Name RIKEN cDNA 1700006A11 gene
Synonyms
MMRRC Submission 039588-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R1549 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 124194639-124219688 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124210441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 157 (I157K)
Ref Sequence ENSEMBL: ENSMUSP00000029598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029598] [ENSMUST00000198630]
AlphaFold B9EHI3
Predicted Effect probably benign
Transcript: ENSMUST00000029598
AA Change: I157K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: I157K

DomainStartEndE-ValueType
RhoGAP 78 251 3.63e-37 SMART
RhoGAP 377 543 3.19e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197975
Predicted Effect probably benign
Transcript: ENSMUST00000198630
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 97% (58/60)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 A T 10: 69,837,812 (GRCm39) N727Y probably benign Het
Atg16l1 A G 1: 87,701,910 (GRCm39) T251A probably benign Het
Bcl11b T A 12: 107,883,422 (GRCm39) I226F probably damaging Het
Birc6 A G 17: 74,969,737 (GRCm39) H4260R probably damaging Het
Camta1 A G 4: 151,670,920 (GRCm39) I85T probably damaging Het
Cblb A G 16: 51,853,373 (GRCm39) probably benign Het
Ccnd1 T G 7: 144,491,073 (GRCm39) I178L probably benign Het
Clcn4 A G 7: 7,294,681 (GRCm39) V329A probably damaging Het
Col17a1 C T 19: 47,637,349 (GRCm39) probably benign Het
Col7a1 A G 9: 108,785,034 (GRCm39) T254A unknown Het
Ctif C A 18: 75,698,096 (GRCm39) R188L probably damaging Het
Cyp2c69 A T 19: 39,831,430 (GRCm39) L461Q probably benign Het
Ddc A G 11: 11,796,656 (GRCm39) probably null Het
Dpp10 T A 1: 123,269,109 (GRCm39) probably null Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Eif2b4 T C 5: 31,350,265 (GRCm39) E19G possibly damaging Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Galnt14 A G 17: 73,832,308 (GRCm39) L269P possibly damaging Het
Gm2381 T A 7: 42,471,825 (GRCm39) H18L probably benign Het
Gpbp1 G T 13: 111,573,113 (GRCm39) D326E probably benign Het
Gpr162 C T 6: 124,837,051 (GRCm39) R331H probably damaging Het
Iigp1 G A 18: 60,522,948 (GRCm39) G22D probably benign Het
Kcns3 T C 12: 11,142,084 (GRCm39) H205R probably damaging Het
Klk1b26 C T 7: 43,665,826 (GRCm39) probably benign Het
Lime1 A G 2: 181,025,169 (GRCm39) Y242C probably benign Het
Manba A G 3: 135,250,567 (GRCm39) D398G probably damaging Het
Mapk3 A T 7: 126,362,684 (GRCm39) K219* probably null Het
Mdfic G T 6: 15,799,844 (GRCm39) G324C probably damaging Het
Mdga1 G A 17: 30,056,972 (GRCm39) H837Y probably damaging Het
Nck1 T A 9: 100,379,925 (GRCm39) M109L probably benign Het
Or1d2 A G 11: 74,256,076 (GRCm39) I194V probably benign Het
Or2w1b T C 13: 21,300,288 (GRCm39) V142A probably benign Het
Pabpc1l G T 2: 163,879,091 (GRCm39) V313F possibly damaging Het
Phf3 C T 1: 30,843,923 (GRCm39) V1679I probably benign Het
Pou4f1 T C 14: 104,705,076 (GRCm39) I32V probably benign Het
Pspc1 T G 14: 56,986,398 (GRCm39) H351P probably damaging Het
Ptk7 T C 17: 46,883,578 (GRCm39) E829G probably damaging Het
Rab23 A G 1: 33,777,378 (GRCm39) Y164C possibly damaging Het
Slc36a3 A G 11: 55,033,596 (GRCm39) W141R probably damaging Het
Slc7a14 T C 3: 31,278,267 (GRCm39) E446G possibly damaging Het
Stim2 G A 5: 54,262,667 (GRCm39) R303Q probably damaging Het
Tbcd A G 11: 121,451,579 (GRCm39) I550V probably benign Het
Tmed3 A C 9: 89,581,998 (GRCm39) L155R probably damaging Het
Trav16d-dv11 A G 14: 53,284,799 (GRCm39) probably benign Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Usp16 G T 16: 87,261,722 (GRCm39) V113F probably damaging Het
Vmn2r12 T G 5: 109,240,696 (GRCm39) Y139S probably benign Het
Vmn2r5 G T 3: 64,411,421 (GRCm39) D382E probably damaging Het
Zfp1010 T C 2: 176,957,378 (GRCm39) E40G probably damaging Het
Zfp217 A C 2: 169,956,390 (GRCm39) N869K probably benign Het
Zswim2 G T 2: 83,754,092 (GRCm39) D189E probably benign Het
Other mutations in 1700006A11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:1700006A11Rik APN 3 124,195,058 (GRCm39) missense probably benign 0.30
IGL02552:1700006A11Rik APN 3 124,208,145 (GRCm39) missense probably damaging 1.00
IGL03092:1700006A11Rik APN 3 124,200,119 (GRCm39) missense probably damaging 1.00
R0094:1700006A11Rik UTSW 3 124,203,427 (GRCm39) splice site probably benign
R0097:1700006A11Rik UTSW 3 124,206,129 (GRCm39) missense probably benign 0.13
R0097:1700006A11Rik UTSW 3 124,206,129 (GRCm39) missense probably benign 0.13
R0184:1700006A11Rik UTSW 3 124,212,899 (GRCm39) missense probably damaging 1.00
R0361:1700006A11Rik UTSW 3 124,207,283 (GRCm39) missense possibly damaging 0.69
R1542:1700006A11Rik UTSW 3 124,208,055 (GRCm39) missense possibly damaging 0.95
R1779:1700006A11Rik UTSW 3 124,200,163 (GRCm39) missense probably damaging 0.99
R1839:1700006A11Rik UTSW 3 124,203,369 (GRCm39) missense probably damaging 0.99
R1986:1700006A11Rik UTSW 3 124,212,977 (GRCm39) missense probably damaging 0.99
R2042:1700006A11Rik UTSW 3 124,210,377 (GRCm39) splice site probably benign
R2149:1700006A11Rik UTSW 3 124,203,335 (GRCm39) missense probably benign 0.33
R2258:1700006A11Rik UTSW 3 124,207,267 (GRCm39) missense possibly damaging 0.84
R2291:1700006A11Rik UTSW 3 124,207,450 (GRCm39) missense probably damaging 1.00
R2509:1700006A11Rik UTSW 3 124,200,102 (GRCm39) missense probably benign 0.44
R4912:1700006A11Rik UTSW 3 124,213,505 (GRCm39) missense possibly damaging 0.68
R5074:1700006A11Rik UTSW 3 124,210,482 (GRCm39) missense probably benign 0.01
R5303:1700006A11Rik UTSW 3 124,199,999 (GRCm39) missense probably damaging 1.00
R5307:1700006A11Rik UTSW 3 124,199,999 (GRCm39) missense probably damaging 1.00
R5308:1700006A11Rik UTSW 3 124,199,999 (GRCm39) missense probably damaging 1.00
R5796:1700006A11Rik UTSW 3 124,215,077 (GRCm39) missense possibly damaging 0.66
R6018:1700006A11Rik UTSW 3 124,210,448 (GRCm39) missense probably damaging 1.00
R6198:1700006A11Rik UTSW 3 124,210,499 (GRCm39) splice site probably null
R6504:1700006A11Rik UTSW 3 124,213,569 (GRCm39) missense probably benign
R7124:1700006A11Rik UTSW 3 124,208,042 (GRCm39) missense probably benign 0.04
R7248:1700006A11Rik UTSW 3 124,207,959 (GRCm39) critical splice donor site probably null
R7351:1700006A11Rik UTSW 3 124,206,159 (GRCm39) missense probably damaging 1.00
R7709:1700006A11Rik UTSW 3 124,201,334 (GRCm39) missense probably damaging 1.00
R7773:1700006A11Rik UTSW 3 124,206,180 (GRCm39) missense probably benign 0.00
R8193:1700006A11Rik UTSW 3 124,213,517 (GRCm39) missense possibly damaging 0.84
R8201:1700006A11Rik UTSW 3 124,195,046 (GRCm39) missense probably benign 0.00
R9157:1700006A11Rik UTSW 3 124,207,220 (GRCm39) missense probably benign 0.22
R9313:1700006A11Rik UTSW 3 124,207,220 (GRCm39) missense probably benign 0.22
R9585:1700006A11Rik UTSW 3 124,199,993 (GRCm39) missense possibly damaging 0.73
R9683:1700006A11Rik UTSW 3 124,200,095 (GRCm39) missense probably benign 0.01
R9721:1700006A11Rik UTSW 3 124,212,932 (GRCm39) missense probably benign 0.00
X0063:1700006A11Rik UTSW 3 124,213,511 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGACCTAAGCTAACCCCAAGTTACTGG -3'
(R):5'- CCTGTGAAGGAAGTTGGGACTAAACTG -3'

Sequencing Primer
(F):5'- TTGTGACTGCTGAAAGAAAGAAATC -3'
(R):5'- GAAGTTGGGACTAAACTGAATTTTAC -3'
Posted On 2014-04-13