Incidental Mutation 'R6504:1700006A11Rik'
ID 523598
Institutional Source Beutler Lab
Gene Symbol 1700006A11Rik
Ensembl Gene ENSMUSG00000027973
Gene Name RIKEN cDNA 1700006A11 gene
Synonyms
MMRRC Submission 044636-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6504 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 124194639-124219688 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124213569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 31 (T31A)
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: T31A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: T31A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 A T 7: 133,531,713 (GRCm39) H507Q probably damaging Het
Ampd1 A G 3: 103,006,911 (GRCm39) D712G possibly damaging Het
Ap4m1 T A 5: 138,176,358 (GRCm39) D351E probably benign Het
Celsr1 T C 15: 85,863,121 (GRCm39) T1304A probably benign Het
Dhx36 G T 3: 62,396,060 (GRCm39) A449E probably benign Het
Dmkn A T 7: 30,475,854 (GRCm39) K2N possibly damaging Het
Dnah10 T C 5: 124,839,846 (GRCm39) I1217T possibly damaging Het
Dph5 A G 3: 115,720,452 (GRCm39) probably null Het
Dysf T C 6: 83,985,907 (GRCm39) V4A probably benign Het
Elavl4 A T 4: 110,112,579 (GRCm39) probably null Het
Ep400 T C 5: 110,856,703 (GRCm39) probably benign Het
Fat2 A G 11: 55,153,223 (GRCm39) I3663T probably benign Het
Gm7233 T A 14: 43,037,394 (GRCm39) D15E probably benign Het
Grik2 A G 10: 49,232,198 (GRCm39) V444A probably damaging Het
Hdac4 T A 1: 91,896,177 (GRCm39) I698F possibly damaging Het
Kank1 T C 19: 25,405,518 (GRCm39) S1179P probably damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Med13l T A 5: 118,892,386 (GRCm39) D1936E probably benign Het
Ofcc1 A T 13: 40,250,531 (GRCm39) L595Q probably damaging Het
Or10d3 C T 9: 39,461,574 (GRCm39) V198M probably damaging Het
Or5b110-ps1 A C 19: 13,259,848 (GRCm39) H191Q possibly damaging Het
Orc1 A G 4: 108,447,914 (GRCm39) I54V probably benign Het
Pom121l2 A G 13: 22,167,631 (GRCm39) Q634R possibly damaging Het
Prrc2c A G 1: 162,525,364 (GRCm39) V414A unknown Het
Ranbp3l T C 15: 8,997,946 (GRCm39) F13L probably benign Het
Scaf11 T C 15: 96,317,341 (GRCm39) probably null Het
Sh3d19 A G 3: 85,992,643 (GRCm39) T224A probably benign Het
Shq1 T A 6: 100,625,208 (GRCm39) Y217F probably benign Het
Slitrk1 A T 14: 109,149,129 (GRCm39) H527Q probably benign Het
Smap2 GACTCTAC GAC 4: 120,830,282 (GRCm39) probably benign Het
Stxbp1 T C 2: 32,691,895 (GRCm39) I432M possibly damaging Het
Sulf2 A G 2: 165,925,841 (GRCm39) Y439H probably benign Het
Thoc5 T A 11: 4,874,815 (GRCm39) C535* probably null Het
Tlr3 T C 8: 45,850,486 (GRCm39) I280V possibly damaging Het
Ush2a A G 1: 188,643,444 (GRCm39) S4269G probably benign Het
Vmn1r214 A T 13: 23,219,610 (GRCm39) *368L probably null Het
Wif1 C G 10: 120,870,996 (GRCm39) Q92E probably damaging 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
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
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'- AAAGCAGTATTTTGTCTTCAGGGTG -3'
(R):5'- CAGTGTTGAGTCTAGGGCAG -3'

Sequencing Primer
(F):5'- CTTCAGGGTGGCTAGGGAAG -3'
(R):5'- AAAAACTCCCACATGCTACAAC -3'
Posted On 2018-06-22