Incidental Mutation 'R8848:Rab11a'
ID 674831
Institutional Source Beutler Lab
Gene Symbol Rab11a
Ensembl Gene ENSMUSG00000004771
Gene Name RAB11A, member RAS oncogene family
Synonyms
MMRRC Submission 068671-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8848 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 64622582-64645038 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64624264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 173 (Y173C)
Ref Sequence ENSEMBL: ENSMUSP00000129163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004892] [ENSMUST00000167569] [ENSMUST00000169058] [ENSMUST00000171100] [ENSMUST00000172298]
AlphaFold P62492
Predicted Effect probably damaging
Transcript: ENSMUST00000004892
AA Change: Y146C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000004892
Gene: ENSMUSG00000004771
AA Change: Y146C

DomainStartEndE-ValueType
RAB 12 153 1.47e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167569
AA Change: Y43C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125755
Gene: ENSMUSG00000004771
AA Change: Y43C

DomainStartEndE-ValueType
Pfam:Ras 5 44 1e-6 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000128150
Gene: ENSMUSG00000004771
AA Change: I74M

DomainStartEndE-ValueType
Pfam:Ras 1 59 2.5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169058
SMART Domains Protein: ENSMUSP00000129729
Gene: ENSMUSG00000004771

DomainStartEndE-ValueType
RAB 12 153 5.11e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171100
AA Change: Y54C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127968
Gene: ENSMUSG00000004771
AA Change: Y54C

DomainStartEndE-ValueType
Pfam:Ras 1 55 1e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172298
AA Change: Y173C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129163
Gene: ENSMUSG00000004771
AA Change: Y173C

DomainStartEndE-ValueType
RAB 12 175 1.01e-115 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Rab family of the small GTPase superfamily. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,778,106 (GRCm39) D46G probably benign Het
Abcc8 A T 7: 45,766,769 (GRCm39) W1004R possibly damaging Het
Acbd3 T A 1: 180,562,084 (GRCm39) probably null Het
Adh1 G T 3: 137,986,262 (GRCm39) C83F probably benign Het
Arhgef18 T C 8: 3,477,481 (GRCm39) V20A probably benign Het
Bmal1 T C 7: 112,905,327 (GRCm39) I506T possibly damaging Het
Brf2 T C 8: 27,616,140 (GRCm39) I82V probably benign Het
C7 A G 15: 5,088,911 (GRCm39) V10A probably damaging Het
Cacna1d C T 14: 29,845,283 (GRCm39) V651M possibly damaging Het
Cacna2d2 T C 9: 107,391,855 (GRCm39) I458T possibly damaging Het
Cadps2 C A 6: 23,344,256 (GRCm39) W897L probably damaging Het
Cdhr1 T A 14: 36,802,531 (GRCm39) N644I probably benign Het
Cox7c A T 13: 86,193,900 (GRCm39) I55K possibly damaging Het
Cox8c T A 12: 102,865,577 (GRCm39) probably benign Het
Cyp2c40 G A 19: 39,801,244 (GRCm39) R4C unknown Het
Ehd3 A T 17: 74,136,911 (GRCm39) probably null Het
Eif2b4 A T 5: 31,348,210 (GRCm39) C227S probably damaging Het
Erlec1 T C 11: 30,898,411 (GRCm39) Y213C probably damaging Het
F11 G T 8: 45,695,281 (GRCm39) Y562* probably null Het
Fam186a A G 15: 99,838,034 (GRCm39) S2737P possibly damaging Het
Fat3 T C 9: 15,878,398 (GRCm39) E3361G probably damaging Het
Fbxl7 T A 15: 26,552,902 (GRCm39) M122L probably benign Het
Fras1 T A 5: 96,929,207 (GRCm39) N3870K probably damaging Het
Gm12185 T A 11: 48,806,280 (GRCm39) T304S possibly damaging Het
Grin3b A T 10: 79,809,667 (GRCm39) D391V probably benign Het
Hao2 T A 3: 98,784,528 (GRCm39) D279V probably damaging Het
Il4i1 C A 7: 44,489,175 (GRCm39) D313E probably damaging Het
Kcnk7 T A 19: 5,756,743 (GRCm39) L244Q probably damaging Het
Lingo4 A T 3: 94,310,840 (GRCm39) M593L probably benign Het
Lix1 G A 17: 17,663,955 (GRCm39) A98T probably damaging Het
Lpo T A 11: 87,708,603 (GRCm39) I132L probably benign Het
Mymx A T 17: 45,912,935 (GRCm39) probably null Het
Nms T C 1: 38,978,391 (GRCm39) S9P probably benign Het
Nom1 A G 5: 29,645,137 (GRCm39) D535G probably damaging Het
Or2t43 T A 11: 58,457,902 (GRCm39) I90F probably damaging Het
Or5p81 T A 7: 108,266,929 (GRCm39) I102N probably benign Het
Or8k25 T C 2: 86,243,821 (GRCm39) T192A probably benign Het
Pgbd1 A G 13: 21,607,052 (GRCm39) C381R probably damaging Het
Pkp1 T C 1: 135,807,652 (GRCm39) S539G probably damaging Het
Plcd3 C A 11: 102,971,446 (GRCm39) R66L probably benign Het
Polr3a A T 14: 24,500,834 (GRCm39) L1318Q probably damaging Het
Ppara T A 15: 85,673,188 (GRCm39) F126L possibly damaging Het
Rev3l T A 10: 39,722,705 (GRCm39) M2566K probably damaging Het
Rwdd1 A G 10: 33,884,987 (GRCm39) probably null Het
Scn7a G A 2: 66,530,393 (GRCm39) R651* probably null Het
Slc15a4 T G 5: 127,679,021 (GRCm39) I440L probably benign Het
Slc28a2 A G 2: 122,290,902 (GRCm39) T623A probably benign Het
Snd1 T A 6: 28,874,962 (GRCm39) S628T possibly damaging Het
Speg T C 1: 75,404,082 (GRCm39) probably null Het
Spta1 G A 1: 174,025,310 (GRCm39) R725K probably benign Het
Stag3 A G 5: 138,288,528 (GRCm39) E185G probably null Het
Svop G T 5: 114,183,687 (GRCm39) T195K Het
Tbc1d5 A T 17: 51,226,082 (GRCm39) F254I probably damaging Het
Ulk3 T C 9: 57,496,890 (GRCm39) L8P probably benign Het
Unc13c T C 9: 73,433,263 (GRCm39) I1973V probably benign Het
Upb1 T A 10: 75,264,178 (GRCm39) probably null Het
Usp53 C T 3: 122,742,825 (GRCm39) G704S probably benign Het
Usp53 T C 3: 122,743,235 (GRCm39) D567G probably benign Het
Vmn1r72 T A 7: 11,404,269 (GRCm39) I60F probably damaging Het
Vmn2r34 C T 7: 7,675,307 (GRCm39) V694I probably benign Het
Vmn2r60 T C 7: 41,786,169 (GRCm39) F324S probably damaging Het
Vps37d A G 5: 135,102,519 (GRCm39) S238P probably damaging Het
Zfp407 T A 18: 84,578,819 (GRCm39) I765F probably damaging Het
Zfp455 A G 13: 67,356,089 (GRCm39) I387M possibly damaging Het
Other mutations in Rab11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02474:Rab11a APN 9 64,633,929 (GRCm39) missense possibly damaging 0.89
IGL02687:Rab11a APN 9 64,633,980 (GRCm39) missense probably damaging 1.00
R0317:Rab11a UTSW 9 64,632,835 (GRCm39) missense probably damaging 0.99
R4527:Rab11a UTSW 9 64,632,850 (GRCm39) missense probably benign 0.38
R7860:Rab11a UTSW 9 64,635,613 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAAATGGACTATACACAGCCTTC -3'
(R):5'- CAATGCTTTGGTTCTAGTTAATGGC -3'

Sequencing Primer
(F):5'- TGGACTATACACAGCCTTCTAGGG -3'
(R):5'- TGAGATAAAGTTCCAGTAGCCC -3'
Posted On 2021-07-15