Incidental Mutation 'IGL02552:1700006A11Rik'
ID298163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700006A11Rik
Ensembl Gene ENSMUSG00000027973
Gene NameRIKEN cDNA 1700006A11 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL02552
Quality Score
Status
Chromosome3
Chromosomal Location124400989-124426040 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 124414496 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 178 (L178S)
Ref Sequence ENSEMBL: ENSMUSP00000029598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029598] [ENSMUST00000198630]
Predicted Effect probably damaging
Transcript: ENSMUST00000029598
AA Change: L178S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: L178S

DomainStartEndE-ValueType
RhoGAP 78 251 3.63e-37 SMART
RhoGAP 377 543 3.19e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082981
Predicted Effect probably benign
Transcript: ENSMUST00000198630
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010005H15Rik A G 16: 36,253,089 E15G probably damaging Het
9130409I23Rik T A 1: 181,054,898 V75E possibly damaging Het
Abca12 A G 1: 71,294,747 Y1199H probably damaging Het
Abcc9 T C 6: 142,605,919 D1221G possibly damaging Het
Apc T A 18: 34,312,982 M977K possibly damaging Het
Arhgap30 T A 1: 171,407,756 L566Q probably damaging Het
Arhgap40 T A 2: 158,546,801 W552R probably benign Het
Astn1 C T 1: 158,505,395 S349F possibly damaging Het
Bard1 T C 1: 71,065,656 probably benign Het
Batf2 T A 19: 6,171,507 Y116N probably benign Het
Cbx6 T C 15: 79,828,893 H111R probably damaging Het
Cd44 T A 2: 102,848,731 N242I probably benign Het
Cdnf C T 2: 3,523,975 Q184* probably null Het
Chd2 C A 7: 73,447,320 probably benign Het
Cmtm6 G A 9: 114,737,306 V88M probably damaging Het
Col24a1 C A 3: 145,474,207 S1151R possibly damaging Het
Dnajc2 T C 5: 21,783,063 D6G probably damaging Het
Eif3a G A 19: 60,763,226 probably benign Het
Fbn1 C A 2: 125,412,713 C210F possibly damaging Het
Fmn2 T A 1: 174,695,720 D1380E probably damaging Het
Fry A T 5: 150,380,910 K588N probably damaging Het
Gm18856 G A 13: 13,965,220 probably benign Het
Gpr37 G T 6: 25,688,687 T137K probably benign Het
Gzmc T C 14: 56,234,582 M1V probably null Het
Htr5a T C 5: 27,842,960 V171A probably benign Het
Ints6l T C X: 56,455,197 probably benign Het
Kcnma1 C T 14: 23,386,259 probably null Het
Krt35 C T 11: 100,093,073 G367D probably benign Het
Nlrp1b C T 11: 71,182,052 V322I possibly damaging Het
Nlrp1b C T 11: 71,172,231 V668I possibly damaging Het
Ntf3 T C 6: 126,101,860 N228D probably damaging Het
Nup133 G A 8: 123,929,255 R496W possibly damaging Het
Olfr1258 T C 2: 89,930,559 V250A probably benign Het
Olfr640 C A 7: 104,022,256 G21W probably damaging Het
Pah C T 10: 87,578,845 probably benign Het
Pan2 G T 10: 128,319,027 W1112L probably damaging Het
Pkn3 G A 2: 30,080,867 R209Q probably damaging Het
Plaa C T 4: 94,582,480 probably null Het
Qprt C T 7: 127,108,855 A135T probably damaging Het
Rbbp6 T G 7: 122,982,981 S108A probably damaging Het
Smg1 T A 7: 118,195,894 probably benign Het
Spink5 T A 18: 43,992,168 C368S possibly damaging Het
Sptan1 T A 2: 30,018,474 I1734N probably damaging Het
Stk38l C T 6: 146,767,533 L170F probably damaging Het
Tesmin C T 19: 3,402,483 probably benign Het
Tjp1 A T 7: 65,299,782 C1697* probably null Het
Tmco4 T C 4: 139,058,379 S587P probably benign Het
Tmem208 G A 8: 105,328,697 probably null Het
Trim30d T C 7: 104,472,416 Q224R probably damaging Het
Trpm7 T A 2: 126,840,779 D390V probably damaging Het
Uba7 A G 9: 107,981,390 I807V probably benign Het
Uhrf1bp1l T A 10: 89,806,743 L10* probably null Het
Utp18 C A 11: 93,868,334 C438F probably damaging Het
Vps13d T C 4: 145,173,137 K191E possibly damaging Het
Wdr27 A G 17: 14,926,191 S181P probably damaging Het
Zfp462 T C 4: 55,010,613 Y860H probably damaging Het
Other mutations in 1700006A11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:1700006A11Rik APN 3 124401409 missense probably benign 0.30
IGL03092:1700006A11Rik APN 3 124406470 missense probably damaging 1.00
R0094:1700006A11Rik UTSW 3 124409778 splice site probably benign
R0097:1700006A11Rik UTSW 3 124412480 missense probably benign 0.13
R0097:1700006A11Rik UTSW 3 124412480 missense probably benign 0.13
R0184:1700006A11Rik UTSW 3 124419250 missense probably damaging 1.00
R0361:1700006A11Rik UTSW 3 124413634 missense possibly damaging 0.69
R1542:1700006A11Rik UTSW 3 124414406 missense possibly damaging 0.95
R1549:1700006A11Rik UTSW 3 124416792 missense probably benign 0.00
R1779:1700006A11Rik UTSW 3 124406514 missense probably damaging 0.99
R1839:1700006A11Rik UTSW 3 124409720 missense probably damaging 0.99
R1986:1700006A11Rik UTSW 3 124419328 missense probably damaging 0.99
R2042:1700006A11Rik UTSW 3 124416728 splice site probably benign
R2149:1700006A11Rik UTSW 3 124409686 missense probably benign 0.33
R2258:1700006A11Rik UTSW 3 124413618 missense possibly damaging 0.84
R2291:1700006A11Rik UTSW 3 124413801 missense probably damaging 1.00
R2509:1700006A11Rik UTSW 3 124406453 missense probably benign 0.44
R4912:1700006A11Rik UTSW 3 124419856 missense possibly damaging 0.68
R5074:1700006A11Rik UTSW 3 124416833 missense probably benign 0.01
R5303:1700006A11Rik UTSW 3 124406350 missense probably damaging 1.00
R5307:1700006A11Rik UTSW 3 124406350 missense probably damaging 1.00
R5308:1700006A11Rik UTSW 3 124406350 missense probably damaging 1.00
R5796:1700006A11Rik UTSW 3 124421428 missense possibly damaging 0.66
R6018:1700006A11Rik UTSW 3 124416799 missense probably damaging 1.00
R6198:1700006A11Rik UTSW 3 124416850 splice site probably null
R6504:1700006A11Rik UTSW 3 124419920 missense probably benign
R7124:1700006A11Rik UTSW 3 124414393 missense probably benign 0.04
R7248:1700006A11Rik UTSW 3 124414310 critical splice donor site probably null
R7351:1700006A11Rik UTSW 3 124412510 missense probably damaging 1.00
R7709:1700006A11Rik UTSW 3 124407685 missense probably damaging 1.00
R7773:1700006A11Rik UTSW 3 124412531 missense probably benign 0.00
R8193:1700006A11Rik UTSW 3 124419868 missense possibly damaging 0.84
R8201:1700006A11Rik UTSW 3 124401397 missense probably benign 0.00
X0063:1700006A11Rik UTSW 3 124419862 missense probably benign
Posted On2015-04-16