Incidental Mutation 'R4062:Rab3il1'
ID 315938
Institutional Source Beutler Lab
Gene Symbol Rab3il1
Ensembl Gene ENSMUSG00000024663
Gene Name RAB3A interacting protein (rabin3)-like 1
Synonyms 1200014K04Rik, Rab3ail1
MMRRC Submission 040971-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R4062 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 9979033-10015744 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10003988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 36 (S36P)
Ref Sequence ENSEMBL: ENSMUSP00000121449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113161] [ENSMUST00000117641] [ENSMUST00000121418] [ENSMUST00000131407] [ENSMUST00000137637] [ENSMUST00000144788] [ENSMUST00000149967]
AlphaFold Q8VDV3
Predicted Effect probably benign
Transcript: ENSMUST00000113161
AA Change: S36P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108786
Gene: ENSMUSG00000024663
AA Change: S36P

DomainStartEndE-ValueType
Pfam:Sec2p 90 173 2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117641
AA Change: S36P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113551
Gene: ENSMUSG00000024663
AA Change: S36P

DomainStartEndE-ValueType
Pfam:Sec2p 89 158 1.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121418
SMART Domains Protein: ENSMUSP00000113828
Gene: ENSMUSG00000024663

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

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

DomainStartEndE-ValueType
Pfam:Sec2p 20 58 5.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144788
AA Change: S36P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121449
Gene: ENSMUSG00000024663
AA Change: S36P

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

DomainStartEndE-ValueType
Pfam:Sec2p 20 51 3.2e-11 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 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
1700019A02Rik A T 1: 53,197,928 (GRCm39) L140Q probably damaging Het
Adam17 T C 12: 21,375,458 (GRCm39) D787G probably damaging Het
Adamtsl4 T C 3: 95,584,864 (GRCm39) K935E probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Bnip3l T C 14: 67,246,187 (GRCm39) N16S possibly damaging Het
Cd320 T A 17: 34,066,491 (GRCm39) N90K probably benign Het
Cdc40 A T 10: 40,725,848 (GRCm39) probably null Het
Clec4b1 C A 6: 123,045,443 (GRCm39) H55N probably benign Het
Cyp4a10 A T 4: 115,376,898 (GRCm39) R87S probably benign Het
Duoxa2 G T 2: 122,131,058 (GRCm39) S73I probably damaging Het
Dytn A G 1: 63,686,606 (GRCm39) C355R probably benign Het
Emilin3 T C 2: 160,749,716 (GRCm39) T631A probably benign Het
Ep400 A T 5: 110,889,847 (GRCm39) M472K probably benign Het
Erap1 G T 13: 74,811,655 (GRCm39) M338I probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fanca T C 8: 124,001,911 (GRCm39) T1061A probably benign Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Gcdh T C 8: 85,619,082 (GRCm39) I152V probably damaging Het
Gls T C 1: 52,235,907 (GRCm39) K403E probably damaging Het
Gorasp2 T C 2: 70,509,857 (GRCm39) C173R probably damaging Het
Greb1l G A 18: 10,522,150 (GRCm39) V749I probably damaging Het
Hnrnpll T C 17: 80,340,201 (GRCm39) H526R probably benign Het
Il18r1 G A 1: 40,514,096 (GRCm39) V101I probably benign Het
Incenp A T 19: 9,861,142 (GRCm39) M480K unknown Het
Isl1 T A 13: 116,439,626 (GRCm39) I241F probably benign Het
Kdm6a A G X: 18,117,114 (GRCm39) T266A probably benign Het
Lcp1 T C 14: 75,452,620 (GRCm39) V442A probably damaging Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Mbnl1 T C 3: 60,511,176 (GRCm39) L136P probably damaging Het
Mrps24 G A 11: 5,654,676 (GRCm39) R93* probably null Het
Nkd2 C T 13: 73,970,809 (GRCm39) G258R probably null Het
Obscn T C 11: 58,973,536 (GRCm39) T1932A probably damaging Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Plagl1 TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC 10: 13,004,515 (GRCm39) probably benign Het
Ptpn18 A T 1: 34,512,011 (GRCm39) H45L possibly damaging Het
Rims1 G T 1: 22,572,664 (GRCm39) N512K probably benign Het
Rinl T C 7: 28,490,140 (GRCm39) Y60H probably benign Het
Scamp2 G T 9: 57,484,545 (GRCm39) probably null Het
Septin9 T C 11: 117,243,091 (GRCm39) S324P probably damaging Het
Sh3pxd2b G T 11: 32,372,263 (GRCm39) A477S probably benign Het
Soat2 A G 15: 102,069,526 (GRCm39) T396A possibly damaging Het
Tenm2 C T 11: 35,899,482 (GRCm39) G2559S probably damaging Het
Tpcn1 G A 5: 120,695,962 (GRCm39) A97V possibly damaging Het
Trdn A G 10: 33,133,083 (GRCm39) E311G probably benign Het
Usp13 T C 3: 32,935,572 (GRCm39) Y333H probably damaging Het
Usp18 A G 6: 121,238,326 (GRCm39) T158A probably benign Het
Vmn1r118 G T 7: 20,645,933 (GRCm39) Q114K probably damaging Het
Wwp1 A T 4: 19,638,644 (GRCm39) N566K possibly damaging Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging 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
R3765:Rab3il1 UTSW 19 10,005,673 (GRCm39) missense probably damaging 1.00
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
(F):5'- GTATGTCACCTAGGGTTGGTCC -3'
(R):5'- AGCTTTCTGGGCTCACTCAG -3'

Sequencing Primer
(F):5'- GTCCCTGGGCTCAGTTCTG -3'
(R):5'- TTCTGGGCTCACTCAGTGCAG -3'
Posted On 2015-05-15