Incidental Mutation 'R5537:Rab14'
ID 434859
Institutional Source Beutler Lab
Gene Symbol Rab14
Ensembl Gene ENSMUSG00000026878
Gene Name RAB14, member RAS oncogene family
Synonyms 2810475J17Rik, 0610030G24Rik, D030017L14Rik, A830021G03Rik
MMRRC Submission 043095-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.913) question?
Stock # R5537 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 35070217-35091132 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35082649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 12 (F12L)
Ref Sequence ENSEMBL: ENSMUSP00000155278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028238] [ENSMUST00000113025] [ENSMUST00000230751]
AlphaFold Q91V41
Predicted Effect probably benign
Transcript: ENSMUST00000028238
AA Change: F12L

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028238
Gene: ENSMUSG00000026878
AA Change: F12L

DomainStartEndE-ValueType
RAB 12 175 1.4e-109 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000113025
SMART Domains Protein: ENSMUSP00000108648
Gene: ENSMUSG00000026878

DomainStartEndE-ValueType
RAB 12 151 5.28e-78 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202602
Predicted Effect possibly damaging
Transcript: ENSMUST00000230751
AA Change: F12L

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000230657
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 9,005,485 (GRCm39) I1123F probably damaging Het
Acsl3 C T 1: 78,684,073 (GRCm39) R702C probably damaging Het
Ank1 A G 8: 23,604,892 (GRCm39) E1031G probably damaging Het
Ankle2 T C 5: 110,397,361 (GRCm39) S536P probably damaging Het
Arfgef2 G T 2: 166,698,513 (GRCm39) probably null Het
Bahd1 G T 2: 118,746,461 (GRCm39) D27Y probably damaging Het
Brinp2 C T 1: 158,082,583 (GRCm39) V246I probably damaging Het
Ccdc187 C A 2: 26,166,237 (GRCm39) A731S probably benign Het
Cdc37l1 T A 19: 28,972,518 (GRCm39) N70K probably damaging Het
Cdk5r1 A G 11: 80,368,825 (GRCm39) Y164C probably damaging Het
Clrn3 A T 7: 135,115,791 (GRCm39) H186Q probably benign Het
Col12a1 G A 9: 79,606,872 (GRCm39) T517I probably damaging Het
Crhr1 T A 11: 104,054,682 (GRCm39) N98K possibly damaging Het
Dst C T 1: 34,228,959 (GRCm39) S2362L probably benign Het
Eapp G A 12: 54,738,844 (GRCm39) T98I probably benign Het
Iqsec3 T C 6: 121,389,603 (GRCm39) probably benign Het
Kctd12 A G 14: 103,219,713 (GRCm39) V55A probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lgr5 T C 10: 115,292,594 (GRCm39) D432G probably benign Het
Mrgprx1 T A 7: 47,670,898 (GRCm39) H283L probably benign Het
Nlrp4e T C 7: 23,019,914 (GRCm39) F134L probably benign Het
Or1e34 T C 11: 73,778,523 (GRCm39) K225R probably benign Het
Or4f14b A T 2: 111,775,393 (GRCm39) M136K probably damaging Het
Or5m5 T A 2: 85,814,570 (GRCm39) Y129N possibly damaging Het
Or8b43 T A 9: 38,360,538 (GRCm39) Y123* probably null Het
Pfkp C A 13: 6,669,278 (GRCm39) W235L probably damaging Het
Prom1 C T 5: 44,158,118 (GRCm39) probably null Het
Psma5-ps A G 10: 85,149,913 (GRCm39) noncoding transcript Het
Rnf40 T A 7: 127,195,261 (GRCm39) I429N probably benign Het
S100pbp G A 4: 129,075,981 (GRCm39) P115S probably benign Het
Scarf1 G A 11: 75,416,357 (GRCm39) A600T probably damaging Het
Slc6a5 T C 7: 49,609,059 (GRCm39) F755L probably benign Het
Slc7a2 A T 8: 41,367,023 (GRCm39) I510F probably benign Het
Spag16 T C 1: 69,866,175 (GRCm39) S5P probably benign Het
Tex15 A G 8: 34,061,641 (GRCm39) Y631C probably damaging Het
Tmem182 A T 1: 40,894,069 (GRCm39) I195F probably benign Het
Tox A G 4: 6,697,510 (GRCm39) L431P probably damaging Het
Tprn G A 2: 25,153,369 (GRCm39) A224T probably benign Het
Tsg101 T C 7: 46,540,876 (GRCm39) K294E probably benign Het
Tubb2a C A 13: 34,259,434 (GRCm39) V119L probably benign Het
Vps37d C T 5: 135,103,256 (GRCm39) E129K possibly damaging Het
Zfp974 TAATCTGTCTCCAAATCTG TAATCTG 7: 27,611,671 (GRCm39) probably benign Het
Zpld1 A G 16: 55,054,003 (GRCm39) V263A possibly damaging Het
Other mutations in Rab14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Rab14 APN 2 35,073,398 (GRCm39) splice site probably benign
R1676:Rab14 UTSW 2 35,076,735 (GRCm39) missense possibly damaging 0.47
R2410:Rab14 UTSW 2 35,076,762 (GRCm39) splice site probably null
R4832:Rab14 UTSW 2 35,079,978 (GRCm39) missense probably damaging 1.00
R7061:Rab14 UTSW 2 35,073,429 (GRCm39) nonsense probably null
R7701:Rab14 UTSW 2 35,073,427 (GRCm39) missense
R9779:Rab14 UTSW 2 35,080,047 (GRCm39) missense
Z1176:Rab14 UTSW 2 35,076,719 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CCAGTGCCATGTTAGAAAAGACA -3'
(R):5'- GTCAGTTTGGGAATTTTACTGGC -3'

Sequencing Primer
(F):5'- GTGCCATGTTAGAAAAGACATATGC -3'
(R):5'- AAAATTTTGTTTGTGTAGTCAGTGTG -3'
Posted On 2016-10-24