Incidental Mutation 'R3765:Rab3il1'
ID 274683
Institutional Source Beutler Lab
Gene Symbol Rab3il1
Ensembl Gene ENSMUSG00000024663
Gene Name RAB3A interacting protein (rabin3)-like 1
Synonyms 1200014K04Rik, Rab3ail1
MMRRC Submission 040742-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R3765 (G1)
Quality Score 223
Status Not validated
Chromosome 19
Chromosomal Location 9979033-10015744 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10005673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 87 (T87A)
Ref Sequence ENSEMBL: ENSMUSP00000113828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113161] [ENSMUST00000117641] [ENSMUST00000121418] [ENSMUST00000131407] [ENSMUST00000137637] [ENSMUST00000144788] [ENSMUST00000149967]
AlphaFold Q8VDV3
Predicted Effect possibly damaging
Transcript: ENSMUST00000113161
AA Change: T156A

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108786
Gene: ENSMUSG00000024663
AA Change: T156A

Pfam:Sec2p 90 173 2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117641
SMART Domains Protein: ENSMUSP00000113551
Gene: ENSMUSG00000024663

Pfam:Sec2p 89 158 1.8e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121418
AA Change: T87A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113828
Gene: ENSMUSG00000024663
AA Change: T87A

Pfam:Sec2p 20 129 4.3e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129882
Predicted Effect probably benign
Transcript: ENSMUST00000131407
SMART Domains Protein: ENSMUSP00000115976
Gene: ENSMUSG00000024663

Pfam:Sec2p 20 86 7.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137637
SMART Domains Protein: ENSMUSP00000120366
Gene: ENSMUSG00000024663

Pfam:Sec2p 20 58 5.9e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000144788
AA Change: T156A

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121449
Gene: ENSMUSG00000024663
AA Change: T156A

Pfam:Sec2p 89 198 4.4e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149967
SMART Domains Protein: ENSMUSP00000120401
Gene: ENSMUSG00000024663

Pfam:Sec2p 20 51 3.2e-11 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T C 7: 75,258,585 (GRCm39) V403A probably benign Het
Arid2 T C 15: 96,268,595 (GRCm39) S903P probably benign Het
Arl6ip6 T A 2: 53,082,243 (GRCm39) W37R probably damaging Het
Bag3 C T 7: 128,141,995 (GRCm39) T162I probably benign Het
C4b G A 17: 34,948,814 (GRCm39) P1545S probably damaging Het
Ccdc185 T A 1: 182,575,117 (GRCm39) H524L possibly damaging Het
Cfap43 T C 19: 47,824,014 (GRCm39) N119S probably benign Het
Churc1 C A 12: 76,820,057 (GRCm39) S22* probably null Het
Crbn T C 6: 106,771,987 (GRCm39) K106E possibly damaging Het
Dag1 C T 9: 108,085,398 (GRCm39) G581E probably damaging Het
Dpp4 T A 2: 62,216,780 (GRCm39) T92S probably benign Het
Fam135a T C 1: 24,094,958 (GRCm39) T137A possibly damaging Het
Fcsk A G 8: 111,613,736 (GRCm39) I775T probably benign Het
Fermt1 T C 2: 132,748,622 (GRCm39) D667G possibly damaging Het
Foxl2 T A 9: 98,838,039 (GRCm39) I109N probably damaging Het
Frk A G 10: 34,360,001 (GRCm39) M1V probably null Het
Gstm2 A G 3: 107,891,346 (GRCm39) F124S probably damaging Het
Hmcn1 T C 1: 150,620,776 (GRCm39) S1145G possibly damaging Het
Ints10 A G 8: 69,277,771 (GRCm39) T682A possibly damaging Het
Jmy T C 13: 93,601,219 (GRCm39) M396V possibly damaging Het
Ldb3 A T 14: 34,300,639 (GRCm39) probably null Het
Mre11a A G 9: 14,721,143 (GRCm39) N354S probably benign Het
Nbea A G 3: 55,912,970 (GRCm39) V939A probably damaging Het
Nphs1 T C 7: 30,170,635 (GRCm39) S928P probably damaging Het
Or5b109 G A 19: 13,211,795 (GRCm39) M60I probably damaging Het
Or7a40 A G 16: 16,491,179 (GRCm39) V222A probably benign Het
Or8g34 T A 9: 39,372,920 (GRCm39) Y61* probably null Het
Or9e1 T C 11: 58,732,120 (GRCm39) F60S probably damaging Het
Pla2g12b G A 10: 59,257,323 (GRCm39) V169M probably damaging Het
Polr1c C T 17: 46,558,850 (GRCm39) V14M probably damaging Het
Prg4 G A 1: 150,327,122 (GRCm39) S898L probably damaging Het
Prmt6 C A 3: 110,157,510 (GRCm39) E260* probably null Het
Ptx4 A G 17: 25,341,842 (GRCm39) T106A probably benign Het
Sbf2 A G 7: 109,974,788 (GRCm39) V783A probably damaging Het
Scn2a A C 2: 65,513,054 (GRCm39) D209A possibly damaging Het
Setd2 T C 9: 110,423,314 (GRCm39) L345P probably damaging Het
Slc18b1 A G 10: 23,674,647 (GRCm39) D34G probably damaging Het
Slc9c1 A T 16: 45,411,244 (GRCm39) M934L possibly damaging Het
Slx4 A G 16: 3,798,850 (GRCm39) V1357A probably damaging Het
Spidr T C 16: 15,786,504 (GRCm39) E413G probably benign Het
Taar1 A G 10: 23,797,205 (GRCm39) Y301C probably damaging Het
Tada2b A T 5: 36,633,761 (GRCm39) D197E probably benign Het
Taf1c G T 8: 120,327,224 (GRCm39) Y418* probably null Het
Tanc2 A G 11: 105,805,796 (GRCm39) D394G probably damaging Het
Tnpo3 T C 6: 29,579,688 (GRCm39) D235G probably benign Het
Tns3 G A 11: 8,401,133 (GRCm39) A1055V probably benign Het
Wdfy3 A G 5: 102,009,266 (GRCm39) Y2767H probably damaging Het
Zfhx3 A G 8: 109,519,394 (GRCm39) N172S probably damaging Het
Zfp839 T C 12: 110,821,597 (GRCm39) V137A probably benign Het
Other mutations in Rab3il1
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4737:Rab3il1 UTSW 19 10,011,115 (GRCm39) missense probably damaging 1.00
R0324:Rab3il1 UTSW 19 10,005,653 (GRCm39) missense probably damaging 1.00
R0613:Rab3il1 UTSW 19 10,005,728 (GRCm39) missense probably damaging 1.00
R0648:Rab3il1 UTSW 19 10,004,752 (GRCm39) small insertion probably benign
R3752:Rab3il1 UTSW 19 10,007,841 (GRCm39) missense probably benign 0.05
R4062:Rab3il1 UTSW 19 10,003,988 (GRCm39) missense probably benign
R4245:Rab3il1 UTSW 19 10,007,518 (GRCm39) missense probably damaging 1.00
R4803:Rab3il1 UTSW 19 10,004,808 (GRCm39) missense possibly damaging 0.78
R4820:Rab3il1 UTSW 19 10,004,034 (GRCm39) missense probably benign 0.01
R7744:Rab3il1 UTSW 19 10,005,641 (GRCm39) splice site probably null
R8047:Rab3il1 UTSW 19 10,011,166 (GRCm39) missense probably benign 0.03
R8154:Rab3il1 UTSW 19 10,004,936 (GRCm39) missense possibly damaging 0.83
R8812:Rab3il1 UTSW 19 10,004,141 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-02