Incidental Mutation 'R1162:Sec31b'
ID100533
Institutional Source Beutler Lab
Gene Symbol Sec31b
Ensembl Gene ENSMUSG00000051984
Gene NameSec31 homolog B (S. cerevisiae)
SynonymsLOC240667, Sec31l2
MMRRC Submission 039235-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.160) question?
Stock #R1162 (G1)
Quality Score225
Status Validated
Chromosome19
Chromosomal Location44516957-44545864 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 44517648 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 940 (E940*)
Ref Sequence ENSEMBL: ENSMUSP00000107616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041163] [ENSMUST00000063632] [ENSMUST00000111985]
Predicted Effect probably benign
Transcript: ENSMUST00000041163
SMART Domains Protein: ENSMUSP00000042867
Gene: ENSMUSG00000036961

DomainStartEndE-ValueType
WNT1 38 351 1.02e-185 SMART
Predicted Effect probably null
Transcript: ENSMUST00000063632
AA Change: E1097*
SMART Domains Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: E1097*

DomainStartEndE-ValueType
Blast:WD40 56 101 5e-18 BLAST
WD40 110 150 4.76e-6 SMART
WD40 159 197 1.53e1 SMART
WD40 200 245 1.85e0 SMART
WD40 249 289 2.15e-4 SMART
WD40 292 332 6.19e-1 SMART
low complexity region 551 561 N/A INTRINSIC
low complexity region 822 841 N/A INTRINSIC
low complexity region 909 929 N/A INTRINSIC
low complexity region 1009 1018 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000111985
AA Change: E940*
SMART Domains Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: E940*

DomainStartEndE-ValueType
WD40 2 40 1.53e1 SMART
WD40 43 88 1.85e0 SMART
WD40 92 132 2.15e-4 SMART
WD40 135 175 6.19e-1 SMART
Pfam:Sec16_C 394 612 1.3e-7 PFAM
low complexity region 665 684 N/A INTRINSIC
low complexity region 752 772 N/A INTRINSIC
low complexity region 852 861 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165758
SMART Domains Protein: ENSMUSP00000130598
Gene: ENSMUSG00000051984

DomainStartEndE-ValueType
low complexity region 17 36 N/A INTRINSIC
Meta Mutation Damage Score 0.664 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.9%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T C 4: 156,122,418 probably null Het
Adamts12 T A 15: 11,277,458 probably null Het
Cops4 T C 5: 100,530,157 probably benign Het
Cul7 T A 17: 46,663,190 L1467H probably damaging Het
Dgkh A G 14: 78,624,451 C125R probably damaging Het
Dgkz A T 2: 91,944,444 I65N probably damaging Het
Dock10 T A 1: 80,568,842 H743L possibly damaging Het
Dscaml1 T C 9: 45,752,349 probably benign Het
Flt4 C T 11: 49,636,339 probably benign Het
Gbe1 A T 16: 70,381,850 probably benign Het
Gm14685 G T X: 73,127,655 G218C probably damaging Het
Gm7275 A G 16: 48,074,032 noncoding transcript Het
Gpatch1 A G 7: 35,303,480 probably benign Het
Gpr137c A G 14: 45,244,158 I144V possibly damaging Het
Igsf9b T C 9: 27,326,889 S563P probably benign Het
Insl5 C T 4: 103,018,241 R104Q probably benign Het
Kcnj2 T A 11: 111,072,967 V395D probably benign Het
Ksr2 A G 5: 117,554,955 probably benign Het
Lrrc4 C A 6: 28,831,084 L177F probably damaging Het
Mapkbp1 A G 2: 120,025,318 E1506G possibly damaging Het
Morc3 A C 16: 93,853,108 Y259S probably damaging Het
Mrpl43 T G 19: 45,006,358 S13R possibly damaging Het
Myh4 A G 11: 67,258,613 N1724D probably damaging Het
Nab1 A G 1: 52,490,027 M237T probably damaging Het
Nav2 A G 7: 49,536,040 probably benign Het
Nfix G A 8: 84,726,526 R300C probably damaging Het
Nov T A 15: 54,747,782 C104* probably null Het
Nup155 A T 15: 8,157,760 H1391L probably damaging Het
Olfr132 A T 17: 38,131,093 V33D possibly damaging Het
Olfr194 T C 16: 59,119,372 R233G probably damaging Het
Olfr508 A G 7: 108,630,913 N307S probably benign Het
Phf2 A T 13: 48,819,641 probably benign Het
Ppef2 A C 5: 92,253,121 F13L probably benign Het
Sap130 C T 18: 31,648,173 P130S probably damaging Het
Scn11a A G 9: 119,805,644 probably benign Het
Sgce A G 6: 4,691,419 probably benign Het
Sh3glb2 A T 2: 30,350,588 I155N probably damaging Het
Sirt2 A T 7: 28,785,822 D218V probably damaging Het
Slc16a10 T C 10: 40,076,553 H315R probably benign Het
Sox5 A G 6: 143,960,812 Y306H probably damaging Het
Sucla2 C T 14: 73,560,634 probably benign Het
Tab2 A G 10: 7,924,719 V23A probably damaging Het
Trak1 G T 9: 121,453,341 V429F possibly damaging Het
Trat1 T C 16: 48,740,209 S102G possibly damaging Het
Trub1 G A 19: 57,472,759 V156I probably benign Het
Tspan32 T A 7: 143,006,998 M61K probably damaging Het
Unc13a T A 8: 71,647,917 T1076S probably benign Het
Vangl2 A G 1: 172,004,847 Y481H probably damaging Het
Vmn2r105 C T 17: 20,227,711 E284K probably benign Het
Vmn2r60 A T 7: 42,195,771 I853F probably benign Het
Yrdc T C 4: 124,854,461 probably benign Het
Zfp595 A T 13: 67,317,195 C335S probably damaging Het
Zfp872 A G 9: 22,199,614 S149G possibly damaging Het
Other mutations in Sec31b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Sec31b APN 19 44527041 missense probably damaging 1.00
IGL01308:Sec31b APN 19 44523683 missense probably benign 0.02
IGL02404:Sec31b APN 19 44534788 missense probably damaging 0.99
IGL02663:Sec31b APN 19 44534278 missense probably damaging 1.00
IGL02728:Sec31b APN 19 44523115 missense probably damaging 0.96
IGL02830:Sec31b APN 19 44531703 missense probably damaging 1.00
IGL03141:Sec31b APN 19 44526320 splice site probably benign
IGL03247:Sec31b APN 19 44518940 missense possibly damaging 0.62
R0049:Sec31b UTSW 19 44520408 splice site probably benign
R0137:Sec31b UTSW 19 44534382 missense probably damaging 1.00
R0238:Sec31b UTSW 19 44525469 unclassified probably benign
R0239:Sec31b UTSW 19 44525469 unclassified probably benign
R0468:Sec31b UTSW 19 44518508 splice site probably benign
R0504:Sec31b UTSW 19 44534786 missense probably damaging 1.00
R0565:Sec31b UTSW 19 44524553 missense probably damaging 1.00
R0627:Sec31b UTSW 19 44525607 missense probably benign
R0749:Sec31b UTSW 19 44524506 missense probably damaging 0.96
R0815:Sec31b UTSW 19 44518173 nonsense probably null
R1398:Sec31b UTSW 19 44523665 missense probably benign 0.04
R1436:Sec31b UTSW 19 44536195 missense probably damaging 0.99
R1538:Sec31b UTSW 19 44518586 missense probably benign 0.42
R1599:Sec31b UTSW 19 44523153 missense possibly damaging 0.92
R2044:Sec31b UTSW 19 44536156 missense probably benign 0.07
R2135:Sec31b UTSW 19 44534696 missense probably damaging 0.99
R2167:Sec31b UTSW 19 44543353 missense possibly damaging 0.89
R2211:Sec31b UTSW 19 44523150 missense probably damaging 1.00
R2938:Sec31b UTSW 19 44536179 missense probably damaging 0.99
R3113:Sec31b UTSW 19 44518185 nonsense probably null
R4110:Sec31b UTSW 19 44524529 missense possibly damaging 0.62
R4111:Sec31b UTSW 19 44524529 missense possibly damaging 0.62
R4113:Sec31b UTSW 19 44524529 missense possibly damaging 0.62
R4158:Sec31b UTSW 19 44525186 missense probably benign 0.34
R4226:Sec31b UTSW 19 44531710 missense probably benign
R4646:Sec31b UTSW 19 44526621 missense probably benign 0.00
R4732:Sec31b UTSW 19 44532677 missense probably damaging 1.00
R4733:Sec31b UTSW 19 44532677 missense probably damaging 1.00
R4795:Sec31b UTSW 19 44531746 missense probably benign 0.00
R4877:Sec31b UTSW 19 44535733 missense probably damaging 1.00
R5150:Sec31b UTSW 19 44520531 missense probably benign 0.08
R5377:Sec31b UTSW 19 44518637 missense probably damaging 1.00
R5381:Sec31b UTSW 19 44534371 missense probably damaging 1.00
R5708:Sec31b UTSW 19 44523144 missense probably damaging 1.00
R6002:Sec31b UTSW 19 44535764 missense probably benign 0.04
R6185:Sec31b UTSW 19 44543284 missense possibly damaging 0.77
R6675:Sec31b UTSW 19 44523775 missense probably benign
R6946:Sec31b UTSW 19 44534316 missense probably damaging 1.00
R7139:Sec31b UTSW 19 44518936 missense probably benign 0.00
R7237:Sec31b UTSW 19 44517708 missense probably damaging 1.00
R7270:Sec31b UTSW 19 44523043 missense probably benign 0.00
R7340:Sec31b UTSW 19 44528722 missense probably benign 0.00
Predicted Primers
Posted On2014-01-15