Incidental Mutation 'R4912:1700006A11Rik'
ID 379606
Institutional Source Beutler Lab
Gene Symbol 1700006A11Rik
Ensembl Gene ENSMUSG00000027973
Gene Name RIKEN cDNA 1700006A11 gene
Synonyms
MMRRC Submission 042514-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R4912 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 124194639-124219688 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124213505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 52 (D52G)
Ref Sequence ENSEMBL: ENSMUSP00000029598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029598] [ENSMUST00000198630]
AlphaFold B9EHI3
Predicted Effect possibly damaging
Transcript: ENSMUST00000029598
AA Change: D52G

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: D52G

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 91.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1a C A 9: 119,171,827 (GRCm39) R102S probably damaging Het
Arhgef12 G A 9: 42,904,361 (GRCm39) R706* probably null Het
Best3 A G 10: 116,844,886 (GRCm39) Y347C probably damaging Het
Birc6 T A 17: 74,872,900 (GRCm39) D386E probably damaging Het
C130050O18Rik A T 5: 139,400,144 (GRCm39) T66S probably benign Het
Chd9 A T 8: 91,760,858 (GRCm39) D2201V possibly damaging Het
Csk A G 9: 57,538,063 (GRCm39) Y48H probably damaging Het
Dffb T A 4: 154,049,864 (GRCm39) probably benign Het
Diaph3 A C 14: 87,244,635 (GRCm39) C217W probably damaging Het
Eml2 T A 7: 18,927,924 (GRCm39) probably null Het
Ercc5 T C 1: 44,196,217 (GRCm39) I70T probably damaging Het
Fryl AGTGTGT AGTGT 5: 73,226,125 (GRCm39) probably null Het
Fsd1 C T 17: 56,298,241 (GRCm39) P189S possibly damaging Het
Gm42669 A G 5: 107,656,683 (GRCm39) K982R probably damaging Het
Gm5414 A G 15: 101,533,445 (GRCm39) I373T possibly damaging Het
Gm7356 A G 17: 14,221,498 (GRCm39) L177P possibly damaging Het
Grip1 G A 10: 119,767,153 (GRCm39) D93N probably damaging Het
Hbq1b T A 11: 32,237,014 (GRCm39) M1K probably null Het
Hps3 C A 3: 20,068,337 (GRCm39) L572F probably damaging Het
Ighj2 T A 12: 113,393,100 (GRCm39) probably benign Het
Kcna3 T C 3: 106,945,207 (GRCm39) M490T probably benign Het
Krt76 T A 15: 101,796,597 (GRCm39) K404* probably null Het
Lgr4 A T 2: 109,836,847 (GRCm39) probably null Het
Ltbp4 G T 7: 27,005,541 (GRCm39) C1533* probably null Het
Mapre2 A G 18: 23,965,990 (GRCm39) N25S probably damaging Het
Mark3 T A 12: 111,559,087 (GRCm39) I43K probably benign Het
Mon1b T A 8: 114,368,585 (GRCm39) Y495* probably null Het
Mrfap1 A G 5: 36,954,089 (GRCm39) probably benign Het
Mxra8 A G 4: 155,925,361 (GRCm39) probably null Het
Myoz1 A T 14: 20,699,606 (GRCm39) L244Q probably damaging Het
Ndfip2 C T 14: 105,496,120 (GRCm39) R5W probably benign Het
Nek11 T C 9: 105,164,857 (GRCm39) D423G probably benign Het
Nin A T 12: 70,090,837 (GRCm39) D859E probably damaging Het
Nup210 G A 6: 90,994,511 (GRCm39) A1729V probably benign Het
Olfm3 A G 3: 114,895,589 (GRCm39) E157G probably damaging Het
Or1e1f A T 11: 73,856,166 (GRCm39) H244L probably damaging Het
Prickle1 A G 15: 93,398,429 (GRCm39) S800P probably benign Het
Reln A G 5: 22,130,191 (GRCm39) S2707P probably benign Het
Resf1 C G 6: 149,230,887 (GRCm39) S1311C probably damaging Het
Rexo4 G A 2: 26,852,404 (GRCm39) T200M possibly damaging Het
Saxo2 T A 7: 82,283,743 (GRCm39) I372L probably benign Het
Scgb2b2 T A 7: 31,003,056 (GRCm39) D50E probably benign Het
Sipa1l1 T C 12: 82,443,452 (GRCm39) L914P possibly damaging Het
Slf1 T A 13: 77,199,413 (GRCm39) D656V probably damaging Het
Sorbs1 T C 19: 40,300,171 (GRCm39) D1192G probably damaging Het
Tdrd6 A C 17: 43,935,218 (GRCm39) D1943E probably benign Het
Tmem163 G A 1: 127,419,362 (GRCm39) T281M probably damaging Het
Tmod3 A G 9: 75,439,730 (GRCm39) V35A probably damaging Het
Ttc39c A T 18: 12,867,951 (GRCm39) Q448L probably benign Het
Ulk1 A T 5: 110,935,455 (GRCm39) S937T probably damaging Het
Unc13c T A 9: 73,481,304 (GRCm39) D1711V probably damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Utp20 G T 10: 88,607,822 (GRCm39) Q1596K probably benign Het
Vmn1r28 A T 6: 58,242,525 (GRCm39) I123F possibly damaging Het
Vmn1r73 T A 7: 11,490,596 (GRCm39) V138E probably damaging Het
Vmn2r112 A G 17: 22,822,363 (GRCm39) D347G probably damaging Het
Vmn2r3 T G 3: 64,166,618 (GRCm39) T838P probably damaging Het
Vps13d A T 4: 144,882,427 (GRCm39) D1055E probably benign Het
Wdr17 T C 8: 55,082,896 (GRCm39) D1268G probably damaging Het
Zfp108 T A 7: 23,960,739 (GRCm39) H443Q probably damaging Het
Zfp608 A G 18: 55,079,663 (GRCm39) V374A probably damaging Het
Zfp831 G T 2: 174,486,417 (GRCm39) G364V probably damaging Het
Zfp94 A G 7: 24,003,166 (GRCm39) V86A probably benign Het
Zkscan16 A C 4: 58,946,506 (GRCm39) N127T possibly 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
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'- TGGTGAATAGCACTGTCTTATCTC -3'
(R):5'- ATGCCCCATCATTCTATGAATTGC -3'

Sequencing Primer
(F):5'- GGCTTCCCCTCCTACTGATAGAAATG -3'
(R):5'- TGCAACAGACATCTTATGCAATCAG -3'
Posted On 2016-04-15