Incidental Mutation 'IGL01543:Rab6b'
ID90236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab6b
Ensembl Gene ENSMUSG00000032549
Gene NameRAB6B, member RAS oncogene family
SynonymsC330006L04Rik, D9Bwg0185e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01543
Quality Score
Status
Chromosome9
Chromosomal Location103111787-103185276 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103162638 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 75 (D75G)
Ref Sequence ENSEMBL: ENSMUSP00000149595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035155] [ENSMUST00000189134]
Predicted Effect probably damaging
Transcript: ENSMUST00000035155
AA Change: D129G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035155
Gene: ENSMUSG00000032549
AA Change: D129G

DomainStartEndE-ValueType
RAB 14 177 5.19e-86 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000189134
AA Change: D75G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in growth retardation and multiple behavioral and immunological abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 60,024,676 I204T probably benign Het
Abhd16a T C 17: 35,091,037 S69P probably damaging Het
Ampd1 C T 3: 103,095,713 T582I probably benign Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Arid1a A T 4: 133,681,722 F1825I unknown Het
Asxl1 G A 2: 153,401,484 G1318D probably benign Het
B4galnt3 G A 6: 120,209,312 H807Y probably benign Het
Bpifb5 G T 2: 154,233,249 V366F possibly damaging Het
Caskin1 T C 17: 24,504,548 V770A probably benign Het
Ccdc152 G A 15: 3,298,124 T57I possibly damaging Het
Ccs T C 19: 4,834,241 E61G possibly damaging Het
Chsy3 G A 18: 59,410,400 W870* probably null Het
Col8a1 G A 16: 57,627,734 P471L unknown Het
Cyp2j6 A C 4: 96,525,924 V368G possibly damaging Het
Dnajc3 T C 14: 118,960,862 probably null Het
Dpep3 A T 8: 105,976,182 M316K probably damaging Het
Galntl5 A G 5: 25,195,351 E126G probably damaging Het
Gli1 T C 10: 127,332,478 N502S probably damaging Het
Hus1 A G 11: 9,000,082 L213P probably benign Het
Hypk A G 2: 121,457,295 probably null Het
Igkv4-59 T A 6: 69,438,361 Y70F probably damaging Het
Impdh1 A C 6: 29,203,378 V14G probably damaging Het
Kif26b A G 1: 178,678,961 M201V probably benign Het
Macf1 A G 4: 123,401,457 I5323T probably damaging Het
Mmp16 C T 4: 18,051,743 A244V probably damaging Het
Obscn T C 11: 59,042,117 D5619G probably benign Het
Olfr704 T C 7: 106,865,918 S313P probably benign Het
Pcdh7 T C 5: 57,720,765 V554A probably damaging Het
Piezo2 T C 18: 63,070,030 E1513G probably damaging Het
Ryr1 T C 7: 29,091,076 Y1435C probably damaging Het
Scarf2 A G 16: 17,802,549 N81S probably damaging Het
Six5 G A 7: 19,096,347 A300T possibly damaging Het
Skap2 T A 6: 52,012,395 N3Y possibly damaging Het
Skint6 A T 4: 112,899,963 S734T probably benign Het
Slc15a4 A C 5: 127,603,766 H396Q probably benign Het
Slco6c1 A G 1: 97,125,828 M116T possibly damaging Het
Slfn9 T C 11: 82,987,949 D118G probably benign Het
Trim3 T C 7: 105,613,313 D546G probably damaging Het
Trpa1 A G 1: 14,900,076 L362P probably damaging Het
Vasn A G 16: 4,649,892 T568A possibly damaging Het
Vwa5b2 A G 16: 20,595,716 M281V probably benign Het
Wwp2 A G 8: 107,483,368 E126G probably damaging Het
Zfp398 G A 6: 47,866,063 G350S probably damaging Het
Other mutations in Rab6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Rab6b APN 9 103163895 missense probably benign 0.26
IGL02708:Rab6b APN 9 103160875 critical splice donor site probably null
R0139:Rab6b UTSW 9 103140377 splice site probably null
R1034:Rab6b UTSW 9 103167124 missense probably benign 0.10
R1084:Rab6b UTSW 9 103162635 missense probably damaging 1.00
R3721:Rab6b UTSW 9 103167174 critical splice donor site probably null
R4591:Rab6b UTSW 9 103167174 critical splice donor site probably null
R5095:Rab6b UTSW 9 103140384 missense probably damaging 1.00
R5725:Rab6b UTSW 9 103163862 missense probably damaging 0.97
Posted On2013-12-03