Incidental Mutation 'R7122:Rab26'
ID 552111
Institutional Source Beutler Lab
Gene Symbol Rab26
Ensembl Gene ENSMUSG00000079657
Gene Name RAB26, member RAS oncogene family
Synonyms A830020M03Rik
MMRRC Submission 045245-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R7122 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24748038-24752696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 24749652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 131 (R131L)
Ref Sequence ENSEMBL: ENSMUSP00000046089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035797] [ENSMUST00000061764] [ENSMUST00000176086] [ENSMUST00000176178] [ENSMUST00000176237] [ENSMUST00000176324] [ENSMUST00000176353] [ENSMUST00000176533] [ENSMUST00000176652] [ENSMUST00000176668] [ENSMUST00000177025] [ENSMUST00000177154] [ENSMUST00000177193] [ENSMUST00000177401] [ENSMUST00000177405]
AlphaFold Q504M8
Predicted Effect probably damaging
Transcript: ENSMUST00000035797
AA Change: R131L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046089
Gene: ENSMUSG00000079657
AA Change: R131L

DomainStartEndE-ValueType
low complexity region 40 50 N/A INTRINSIC
RAB 68 232 2.84e-101 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000061764
AA Change: R131L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055970
Gene: ENSMUSG00000079657
AA Change: R131L

DomainStartEndE-ValueType
low complexity region 40 50 N/A INTRINSIC
Pfam:Arf 59 145 1.1e-8 PFAM
Pfam:Ras 69 145 6.6e-27 PFAM
Pfam:Roc 69 157 4.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176086
SMART Domains Protein: ENSMUSP00000135845
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 103 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176178
SMART Domains Protein: ENSMUSP00000134808
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176237
SMART Domains Protein: ENSMUSP00000134946
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
RING 91 124 4.73e-6 SMART
Pfam:zf-TRAF 182 238 8.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176324
Predicted Effect probably benign
Transcript: ENSMUST00000176353
SMART Domains Protein: ENSMUSP00000135267
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
RING 92 125 4.73e-6 SMART
coiled coil region 264 332 N/A INTRINSIC
WD40 344 383 8.35e-11 SMART
WD40 387 424 8.42e-7 SMART
WD40 427 463 2.09e-2 SMART
WD40 468 504 1.92e0 SMART
WD40 507 544 5.15e-2 SMART
WD40 547 588 1.78e-5 SMART
WD40 591 628 1.63e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176533
AA Change: R166L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135775
Gene: ENSMUSG00000079657
AA Change: R166L

DomainStartEndE-ValueType
low complexity region 75 85 N/A INTRINSIC
RAB 103 267 2.84e-101 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176652
SMART Domains Protein: ENSMUSP00000134759
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 90 104 N/A INTRINSIC
low complexity region 109 117 N/A INTRINSIC
RING 130 163 4.73e-6 SMART
coiled coil region 304 372 N/A INTRINSIC
WD40 384 423 8.35e-11 SMART
WD40 427 464 8.42e-7 SMART
WD40 467 503 2.09e-2 SMART
WD40 508 544 1.92e0 SMART
WD40 547 584 5.15e-2 SMART
WD40 587 628 1.78e-5 SMART
WD40 631 668 1.63e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176668
SMART Domains Protein: ENSMUSP00000135586
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177025
Predicted Effect probably benign
Transcript: ENSMUST00000177154
SMART Domains Protein: ENSMUSP00000135874
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 91 105 N/A INTRINSIC
low complexity region 110 118 N/A INTRINSIC
RING 131 164 4.73e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177193
SMART Domains Protein: ENSMUSP00000135288
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 90 104 N/A INTRINSIC
low complexity region 109 117 N/A INTRINSIC
RING 130 163 4.73e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177401
Predicted Effect probably benign
Transcript: ENSMUST00000177405
SMART Domains Protein: ENSMUSP00000135127
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (75/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAB protein family, including RAB26, are important regulators of vesicular fusion and trafficking. The RAB family of small G proteins regulates intercellular vesicle trafficking, including exocytosis, endocytosis, and recycling (summary by Seki et al., 2000 [PubMed 11043516]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 T A 13: 4,561,275 (GRCm39) E126V probably benign Het
Alg3 A T 16: 20,426,602 (GRCm39) L213H probably damaging Het
Atp1a4 T A 1: 172,059,503 (GRCm39) Y863F possibly damaging Het
Atp6v0e A G 17: 26,914,390 (GRCm39) T72A probably benign Het
Aup1 A G 6: 83,032,123 (GRCm39) T97A probably benign Het
Bcl6 T C 16: 23,791,652 (GRCm39) D234G probably damaging Het
Cdc42bpa T C 1: 179,892,583 (GRCm39) L249P probably damaging Het
Celsr3 A G 9: 108,705,766 (GRCm39) K750E possibly damaging Het
Ces1g C A 8: 94,043,665 (GRCm39) G425C possibly damaging Het
Chl1 T C 6: 103,683,409 (GRCm39) L745P probably damaging Het
Csmd2 G A 4: 128,343,020 (GRCm39) V1471M Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
E4f1 G A 17: 24,663,808 (GRCm39) Q569* probably null Het
Efcab3 A T 11: 104,899,787 (GRCm39) I4350F possibly damaging Het
Fbxw24 A T 9: 109,430,328 (GRCm39) C439S probably benign Het
Ftdc2 C A 16: 58,458,140 (GRCm39) A54S probably benign Het
Gmip C T 8: 70,270,452 (GRCm39) P721S probably benign Het
Grip1 A G 10: 119,871,279 (GRCm39) I669V possibly damaging Het
Gsn A T 2: 35,185,061 (GRCm39) K339* probably null Het
Herc1 G T 9: 66,307,056 (GRCm39) A959S possibly damaging Het
Hic1 A G 11: 75,060,056 (GRCm39) V97A probably benign Het
Il11ra1 A G 4: 41,766,189 (GRCm39) Y242C probably damaging Het
Iqsec3 A C 6: 121,450,317 (GRCm39) V69G unknown Het
Jak3 T A 8: 72,138,601 (GRCm39) M933K probably damaging Het
Kbtbd7 G A 14: 79,665,757 (GRCm39) V530I probably damaging Het
Kif22 G A 7: 126,632,150 (GRCm39) R345C probably benign Het
Klhl7 G A 5: 24,343,433 (GRCm39) E250K probably damaging Het
Klk1b4 A G 7: 43,860,531 (GRCm39) H183R probably damaging Het
Lhfpl4 C T 6: 113,153,632 (GRCm39) V140I probably benign Het
Lhx5 T A 5: 120,574,410 (GRCm39) M238K probably benign Het
Lin28b A T 10: 45,345,244 (GRCm39) H27Q probably benign Het
Mgat4c A T 10: 102,214,070 (GRCm39) R18* probably null Het
Myct1 C A 10: 5,554,492 (GRCm39) H120N probably damaging Het
Nek1 A T 8: 61,559,829 (GRCm39) D984V probably benign Het
Nfu1 A T 6: 86,986,863 (GRCm39) probably benign Het
Nipsnap1 A T 11: 4,833,366 (GRCm39) probably null Het
Nlrp9c A G 7: 26,085,046 (GRCm39) Y178H probably damaging Het
Nrxn3 T A 12: 89,477,377 (GRCm39) M520K probably damaging Het
Oacyl A G 18: 65,853,323 (GRCm39) D143G probably benign Het
Obox5 A G 7: 15,492,732 (GRCm39) Y229C probably damaging Het
Or1j12 A G 2: 36,342,702 (GRCm39) Y35C probably damaging Het
Or1j18 G A 2: 36,624,436 (GRCm39) M34I probably benign Het
Or2a5 T C 6: 42,874,024 (GRCm39) V213A probably damaging Het
Or52n5 T C 7: 104,588,405 (GRCm39) L224P probably damaging Het
Otogl C T 10: 107,702,515 (GRCm39) A713T probably benign Het
Pcdhb17 A C 18: 37,619,566 (GRCm39) N452T probably benign Het
Pi16 A G 17: 29,545,313 (GRCm39) Y192C probably damaging Het
Pla2g5 T C 4: 138,531,830 (GRCm39) D58G probably damaging Het
Plpp4 G T 7: 128,981,207 (GRCm39) V153F unknown Het
Plxna2 C A 1: 194,326,876 (GRCm39) S270* probably null Het
Pole T A 5: 110,472,968 (GRCm39) probably null Het
Prmt7 T C 8: 106,961,732 (GRCm39) F215S unknown Het
Ptpn21 C T 12: 98,655,171 (GRCm39) V599I probably damaging Het
Raph1 A T 1: 60,565,136 (GRCm39) V117D probably benign Het
Sacs T C 14: 61,447,845 (GRCm39) V3297A probably damaging Het
Serpine1 C A 5: 137,095,796 (GRCm39) A262S probably benign Het
Sgf29 A G 7: 126,271,221 (GRCm39) D193G probably null Het
Sh3rf2 G A 18: 42,237,227 (GRCm39) probably null Het
Sipa1l1 T C 12: 82,469,236 (GRCm39) V1245A possibly damaging Het
Slc22a7 A G 17: 46,749,224 (GRCm39) L31P probably damaging Het
Slc24a5 G A 2: 124,930,111 (GRCm39) V471I probably benign Het
Slc26a7 A T 4: 14,533,639 (GRCm39) Y395N probably damaging Het
Slc38a2 T C 15: 96,591,182 (GRCm39) M229V probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Susd1 G A 4: 59,411,318 (GRCm39) R225* probably null Het
Suz12 T A 11: 79,884,419 (GRCm39) F92I probably damaging Het
Tmem114 C A 16: 8,242,610 (GRCm39) probably benign Het
Tmem68 A G 4: 3,564,107 (GRCm39) V159A probably benign Het
Tpra1 T A 6: 88,885,276 (GRCm39) I76N probably damaging Het
Trim45 A G 3: 100,839,353 (GRCm39) T752A unknown Het
Trp63 C A 16: 25,639,227 (GRCm39) H138Q probably damaging Het
Ugt2a2 T C 5: 87,608,255 (GRCm39) D528G possibly damaging Het
Vmn2r39 T G 7: 9,017,761 (GRCm39) K858N possibly damaging Het
Zfp629 A T 7: 127,210,484 (GRCm39) S442T probably damaging Het
Other mutations in Rab26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02636:Rab26 APN 17 24,752,533 (GRCm39) missense probably benign 0.01
R0131:Rab26 UTSW 17 24,749,759 (GRCm39) critical splice donor site probably null
R0131:Rab26 UTSW 17 24,749,759 (GRCm39) critical splice donor site probably null
R0132:Rab26 UTSW 17 24,749,759 (GRCm39) critical splice donor site probably null
R0377:Rab26 UTSW 17 24,749,019 (GRCm39) unclassified probably benign
R0567:Rab26 UTSW 17 24,748,556 (GRCm39) missense probably damaging 0.99
R0681:Rab26 UTSW 17 24,746,940 (GRCm39) unclassified probably benign
R5103:Rab26 UTSW 17 24,753,071 (GRCm39) unclassified probably benign
R5226:Rab26 UTSW 17 24,753,107 (GRCm39) unclassified probably benign
R5975:Rab26 UTSW 17 24,749,373 (GRCm39) missense possibly damaging 0.94
R6307:Rab26 UTSW 17 24,749,072 (GRCm39) missense probably damaging 1.00
R6601:Rab26 UTSW 17 24,748,595 (GRCm39) nonsense probably null
R6897:Rab26 UTSW 17 24,748,766 (GRCm39) missense probably damaging 1.00
R7155:Rab26 UTSW 17 24,751,263 (GRCm39) missense probably damaging 0.99
R8708:Rab26 UTSW 17 24,748,772 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTGGCTCCTAACTACCTG -3'
(R):5'- TCCTACTTCCACCAGAGGATG -3'

Sequencing Primer
(F):5'- GCACCCTTTTAGATACTCCCAAGTG -3'
(R):5'- ATGGCAGGCATCCTTACTG -3'
Posted On 2019-05-15