Incidental Mutation 'IGL02830:Sec31b'
ID 361378
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec31b
Ensembl Gene ENSMUSG00000051984
Gene Name SEC31 homolog B, COPII coat complex component
Synonyms Sec31l2, LOC240667
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # IGL02830
Quality Score
Status
Chromosome 19
Chromosomal Location 44505396-44534287 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44520142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 214 (R214K)
Ref Sequence ENSEMBL: ENSMUSP00000107616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063632] [ENSMUST00000111985]
AlphaFold Q3TZ89
Predicted Effect probably damaging
Transcript: ENSMUST00000063632
AA Change: R371K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: R371K

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 damaging
Transcript: ENSMUST00000111985
AA Change: R214K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: R214K

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
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T A 17: 48,348,235 (GRCm39) E67D possibly damaging Het
Acad11 T A 9: 103,953,118 (GRCm39) F116I probably damaging Het
Acox2 G A 14: 8,255,298 (GRCm38) T160I probably damaging Het
Anxa7 A T 14: 20,506,608 (GRCm39) M444K possibly damaging Het
Atg2a A G 19: 6,297,711 (GRCm39) D423G probably benign Het
Cela3a T C 4: 137,128,946 (GRCm39) N282S probably benign Het
Cyp2c50 G A 19: 40,086,500 (GRCm39) V296I probably benign Het
Fcgbpl1 C A 7: 27,862,348 (GRCm39) H2471Q probably damaging Het
Fgd3 A G 13: 49,418,107 (GRCm39) probably benign Het
Gfus C T 15: 75,797,437 (GRCm39) V275I probably benign Het
Gimap8 G A 6: 48,633,239 (GRCm39) A353T probably benign Het
Grin3a T A 4: 49,702,787 (GRCm39) M900L possibly damaging Het
H1f0 T G 15: 78,913,511 (GRCm39) probably benign Het
Heatr1 T C 13: 12,441,093 (GRCm39) V1456A possibly damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Kbtbd3 T A 9: 4,330,096 (GRCm39) S157T possibly damaging Het
Kif19a C T 11: 114,672,034 (GRCm39) T207M probably damaging Het
Klc1 T C 12: 111,743,341 (GRCm39) Y223H probably damaging Het
Klhl33 C T 14: 51,129,214 (GRCm39) V672M probably damaging Het
Lrrc49 G A 9: 60,592,393 (GRCm39) L34F probably damaging Het
Nalcn C T 14: 123,530,881 (GRCm39) V1386I probably damaging Het
Or14c39 T G 7: 86,344,382 (GRCm39) C239W probably damaging Het
Or4b13 A T 2: 90,083,125 (GRCm39) I69N probably damaging Het
Or51b6 C T 7: 103,555,651 (GRCm39) P2S probably benign Het
Or5ac19 A G 16: 59,089,416 (GRCm39) S205P possibly damaging Het
Orc5 A T 5: 22,734,265 (GRCm39) L173Q probably damaging Het
Otud4 T G 8: 80,399,930 (GRCm39) D880E probably benign Het
Pde12 T C 14: 26,389,740 (GRCm39) Y323C probably damaging Het
Pde8b G T 13: 95,189,409 (GRCm39) D198E probably benign Het
Prom2 T A 2: 127,376,989 (GRCm39) I542F possibly damaging Het
Ptprj G A 2: 90,283,488 (GRCm39) T952I probably benign Het
Ribc2 T A 15: 85,016,458 (GRCm39) probably benign Het
Senp5 G A 16: 31,802,303 (GRCm39) probably benign Het
Sh3pxd2a G A 19: 47,271,517 (GRCm39) R249W probably damaging Het
Sorcs3 G A 19: 48,711,441 (GRCm39) probably null Het
Spata31d1c A G 13: 65,183,180 (GRCm39) T241A probably benign Het
Tac1 G A 6: 7,555,650 (GRCm39) V13I probably benign Het
Tnnc2 T A 2: 164,619,430 (GRCm39) D138V probably null Het
Tspan32 T A 7: 142,571,329 (GRCm39) M159K possibly damaging Het
Ttc28 A T 5: 111,434,105 (GRCm39) T2380S probably benign Het
Ubc T A 5: 125,464,377 (GRCm39) I317F probably damaging Het
Usp24 T C 4: 106,204,584 (GRCm39) S268P possibly damaging Het
Vmn2r91 C A 17: 18,356,884 (GRCm39) H850Q probably benign Het
Xrn1 T C 9: 95,900,234 (GRCm39) probably null Het
Zfp329 A C 7: 12,544,043 (GRCm39) C494G probably damaging Het
Zfp54 T C 17: 21,653,718 (GRCm39) S71P probably damaging Het
Other mutations in Sec31b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Sec31b APN 19 44,515,480 (GRCm39) missense probably damaging 1.00
IGL01308:Sec31b APN 19 44,512,122 (GRCm39) missense probably benign 0.02
IGL02404:Sec31b APN 19 44,523,227 (GRCm39) missense probably damaging 0.99
IGL02663:Sec31b APN 19 44,522,717 (GRCm39) missense probably damaging 1.00
IGL02728:Sec31b APN 19 44,511,554 (GRCm39) missense probably damaging 0.96
IGL03141:Sec31b APN 19 44,514,759 (GRCm39) splice site probably benign
IGL03247:Sec31b APN 19 44,507,379 (GRCm39) missense possibly damaging 0.62
R0049:Sec31b UTSW 19 44,508,847 (GRCm39) splice site probably benign
R0137:Sec31b UTSW 19 44,522,821 (GRCm39) missense probably damaging 1.00
R0238:Sec31b UTSW 19 44,513,908 (GRCm39) unclassified probably benign
R0239:Sec31b UTSW 19 44,513,908 (GRCm39) unclassified probably benign
R0468:Sec31b UTSW 19 44,506,947 (GRCm39) splice site probably benign
R0504:Sec31b UTSW 19 44,523,225 (GRCm39) missense probably damaging 1.00
R0565:Sec31b UTSW 19 44,512,992 (GRCm39) missense probably damaging 1.00
R0627:Sec31b UTSW 19 44,514,046 (GRCm39) missense probably benign
R0749:Sec31b UTSW 19 44,512,945 (GRCm39) missense probably damaging 0.96
R0815:Sec31b UTSW 19 44,506,612 (GRCm39) nonsense probably null
R1162:Sec31b UTSW 19 44,506,087 (GRCm39) nonsense probably null
R1398:Sec31b UTSW 19 44,512,104 (GRCm39) missense probably benign 0.04
R1436:Sec31b UTSW 19 44,524,634 (GRCm39) missense probably damaging 0.99
R1538:Sec31b UTSW 19 44,507,025 (GRCm39) missense probably benign 0.42
R1599:Sec31b UTSW 19 44,511,592 (GRCm39) missense possibly damaging 0.92
R2044:Sec31b UTSW 19 44,524,595 (GRCm39) missense probably benign 0.07
R2135:Sec31b UTSW 19 44,523,135 (GRCm39) missense probably damaging 0.99
R2167:Sec31b UTSW 19 44,531,792 (GRCm39) missense possibly damaging 0.89
R2211:Sec31b UTSW 19 44,511,589 (GRCm39) missense probably damaging 1.00
R2938:Sec31b UTSW 19 44,524,618 (GRCm39) missense probably damaging 0.99
R3113:Sec31b UTSW 19 44,506,624 (GRCm39) nonsense probably null
R4110:Sec31b UTSW 19 44,512,968 (GRCm39) missense possibly damaging 0.62
R4111:Sec31b UTSW 19 44,512,968 (GRCm39) missense possibly damaging 0.62
R4113:Sec31b UTSW 19 44,512,968 (GRCm39) missense possibly damaging 0.62
R4158:Sec31b UTSW 19 44,513,625 (GRCm39) missense probably benign 0.34
R4226:Sec31b UTSW 19 44,520,149 (GRCm39) missense probably benign
R4646:Sec31b UTSW 19 44,515,060 (GRCm39) missense probably benign 0.00
R4732:Sec31b UTSW 19 44,521,116 (GRCm39) missense probably damaging 1.00
R4733:Sec31b UTSW 19 44,521,116 (GRCm39) missense probably damaging 1.00
R4795:Sec31b UTSW 19 44,520,185 (GRCm39) missense probably benign 0.00
R4877:Sec31b UTSW 19 44,524,172 (GRCm39) missense probably damaging 1.00
R5150:Sec31b UTSW 19 44,508,970 (GRCm39) missense probably benign 0.08
R5377:Sec31b UTSW 19 44,507,076 (GRCm39) missense probably damaging 1.00
R5381:Sec31b UTSW 19 44,522,810 (GRCm39) missense probably damaging 1.00
R5708:Sec31b UTSW 19 44,511,583 (GRCm39) missense probably damaging 1.00
R6002:Sec31b UTSW 19 44,524,203 (GRCm39) missense probably benign 0.04
R6185:Sec31b UTSW 19 44,531,723 (GRCm39) missense possibly damaging 0.77
R6675:Sec31b UTSW 19 44,512,214 (GRCm39) missense probably benign
R6946:Sec31b UTSW 19 44,522,755 (GRCm39) missense probably damaging 1.00
R7139:Sec31b UTSW 19 44,507,375 (GRCm39) missense probably benign 0.00
R7237:Sec31b UTSW 19 44,506,147 (GRCm39) missense probably damaging 1.00
R7270:Sec31b UTSW 19 44,511,482 (GRCm39) missense probably benign 0.00
R7340:Sec31b UTSW 19 44,517,161 (GRCm39) missense probably benign 0.00
R7505:Sec31b UTSW 19 44,532,146 (GRCm39) missense probably damaging 1.00
R7584:Sec31b UTSW 19 44,519,995 (GRCm39) splice site probably null
R7584:Sec31b UTSW 19 44,531,762 (GRCm39) missense probably damaging 0.99
R7763:Sec31b UTSW 19 44,512,274 (GRCm39) critical splice acceptor site probably null
R7777:Sec31b UTSW 19 44,512,212 (GRCm39) nonsense probably null
R7900:Sec31b UTSW 19 44,514,669 (GRCm39) missense probably damaging 1.00
R7952:Sec31b UTSW 19 44,508,979 (GRCm39) missense probably benign 0.01
R8057:Sec31b UTSW 19 44,507,804 (GRCm39) missense probably damaging 1.00
R8197:Sec31b UTSW 19 44,512,955 (GRCm39) missense probably benign 0.25
R8739:Sec31b UTSW 19 44,507,620 (GRCm39) missense probably benign 0.16
R8822:Sec31b UTSW 19 44,507,702 (GRCm39) missense probably benign 0.02
R8837:Sec31b UTSW 19 44,506,106 (GRCm39) nonsense probably null
R8916:Sec31b UTSW 19 44,520,783 (GRCm39) missense
R9069:Sec31b UTSW 19 44,507,741 (GRCm39) missense probably damaging 0.98
R9259:Sec31b UTSW 19 44,505,855 (GRCm39) missense probably damaging 1.00
R9493:Sec31b UTSW 19 44,509,021 (GRCm39) missense probably damaging 1.00
RF023:Sec31b UTSW 19 44,524,226 (GRCm39) missense probably damaging 1.00
Z1177:Sec31b UTSW 19 44,505,753 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18