Incidental Mutation 'IGL01118:1700006A11Rik'
ID 50759
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700006A11Rik
Ensembl Gene ENSMUSG00000027973
Gene Name RIKEN cDNA 1700006A11 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL01118
Quality Score
Status
Chromosome 3
Chromosomal Location 124194639-124219688 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 124195058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 539 (R539Q)
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: R539Q

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: R539Q

DomainStartEndE-ValueType
RhoGAP 78 251 3.63e-37 SMART
RhoGAP 377 543 3.19e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196028
Predicted Effect probably benign
Transcript: ENSMUST00000198630
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,724,687 (GRCm39) R40H probably damaging Het
Acan T A 7: 78,748,401 (GRCm39) S1057R possibly damaging Het
Ahnak A T 19: 8,989,942 (GRCm39) D3742V probably damaging Het
Amdhd1 A T 10: 93,367,430 (GRCm39) D241E probably benign Het
Cntn5 T C 9: 9,831,565 (GRCm39) Y605C possibly damaging Het
Dnmt3l T C 10: 77,893,120 (GRCm39) F299S probably damaging Het
Eif1ad19 T A 12: 87,740,212 (GRCm39) N116Y probably damaging Het
Ess2 A T 16: 17,720,796 (GRCm39) I350N probably damaging Het
G6pd2 A T 5: 61,967,406 (GRCm39) M394L probably benign Het
Gm9839 A T 1: 32,558,924 (GRCm39) M386K probably benign Het
Gtf2h3 T C 5: 124,733,731 (GRCm39) V268A probably damaging Het
Hgs T C 11: 120,366,040 (GRCm39) V195A probably damaging Het
Igkv3-2 A T 6: 70,675,978 (GRCm39) S96C probably damaging Het
Mgl2 A G 11: 70,025,015 (GRCm39) E12G probably benign Het
Mup11 A T 4: 60,615,779 (GRCm39) F153I probably damaging Het
Nf1 T A 11: 79,437,812 (GRCm39) C2057S probably damaging Het
Nkrf A G X: 36,152,410 (GRCm39) F624S probably damaging Het
Noto T C 6: 85,401,192 (GRCm39) S74P probably benign Het
Or8k40 A G 2: 86,584,314 (GRCm39) I256T probably benign Het
Pax8 T C 2: 24,332,944 (GRCm39) probably benign Het
Psg28 A T 7: 18,162,017 (GRCm39) V162D probably damaging Het
Rai1 T C 11: 60,078,264 (GRCm39) F776S probably damaging Het
Taar8a A T 10: 23,952,759 (GRCm39) H121L probably damaging Het
Tas2r113 A G 6: 132,870,278 (GRCm39) N102S probably benign Het
Trpm1 A G 7: 63,885,572 (GRCm39) T863A probably benign Het
Ttf2 A G 3: 100,874,413 (GRCm39) probably benign Het
Wdr62 T C 7: 29,942,206 (GRCm39) H611R probably damaging Het
Wdr90 A T 17: 26,073,661 (GRCm39) L762Q probably damaging Het
Yeats2 T G 16: 20,005,054 (GRCm39) S364A probably damaging Het
Zdhhc15 G T X: 103,641,712 (GRCm39) Q82K probably benign Het
Other mutations in 1700006A11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1549:1700006A11Rik UTSW 3 124,210,441 (GRCm39) missense probably benign 0.00
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
Posted On 2013-06-21