Incidental Mutation 'R4113:Sec31b'
ID 314533
Institutional Source Beutler Lab
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 # R4113 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 44505396-44534287 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44512968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 507 (T507N)
Ref Sequence ENSEMBL: ENSMUSP00000107616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063632] [ENSMUST00000111985]
AlphaFold Q3TZ89
Predicted Effect possibly damaging
Transcript: ENSMUST00000063632
AA Change: T664N

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: T664N

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 possibly damaging
Transcript: ENSMUST00000111985
AA Change: T507N

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: T507N

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 0.0911 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.6%
  • 20x: 96.1%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bace2 A G 16: 97,237,856 (GRCm39) T436A probably benign Het
BC024139 A G 15: 76,005,827 (GRCm39) M458T probably benign Het
Casp2 G A 6: 42,244,828 (GRCm39) A76T probably damaging Het
Catsper3 A G 13: 55,934,183 (GRCm39) K35E probably damaging Het
Ccdc88c A G 12: 100,911,332 (GRCm39) L34P probably damaging Het
Dcaf13 T A 15: 38,993,615 (GRCm39) I236N probably damaging Het
Dip2c G T 13: 9,687,137 (GRCm39) G1254C probably damaging Het
Dnah12 T C 14: 26,414,722 (GRCm39) L41P probably damaging Het
Dnah17 T C 11: 118,003,420 (GRCm39) K514R possibly damaging Het
Dnajb12 T A 10: 59,730,136 (GRCm39) S270R possibly damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Eya4 G T 10: 23,031,849 (GRCm39) S235Y probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gdf3 A G 6: 122,584,016 (GRCm39) I117T probably damaging Het
Gm5611 T A 9: 16,941,989 (GRCm39) noncoding transcript Het
Gtf3c4 G A 2: 28,717,567 (GRCm39) T771I probably damaging Het
Hrh3 C A 2: 179,744,643 (GRCm39) R99L possibly damaging Het
Hyls1 T A 9: 35,472,714 (GRCm39) Y234F probably damaging Het
Irak1bp1 T C 9: 82,728,728 (GRCm39) S220P probably benign Het
Lama1 G A 17: 68,071,698 (GRCm39) V862I probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Or14a258 G A 7: 86,035,733 (GRCm39) T45M possibly damaging Het
Or4b12 A T 2: 90,096,684 (GRCm39) L30H probably damaging Het
Pcdh8 T C 14: 80,004,953 (GRCm39) D927G probably damaging Het
Prelid3a T C 18: 67,605,967 (GRCm39) Y25H probably damaging Het
Ptprm T C 17: 67,032,808 (GRCm39) D1015G probably damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Riox2 C T 16: 59,312,257 (GRCm39) L465F probably benign Het
Stab1 C T 14: 30,890,436 (GRCm39) R5Q probably damaging Het
Stmn3 T C 2: 180,949,089 (GRCm39) K135E possibly damaging Het
Synj2 G A 17: 6,058,240 (GRCm39) G243S probably benign Het
Tasor C T 14: 27,181,918 (GRCm39) R483* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tshz2 C A 2: 169,727,450 (GRCm39) P213Q probably benign Het
Tssk4 A G 14: 55,887,830 (GRCm39) T9A probably benign Het
Ube4a T A 9: 44,860,247 (GRCm39) I272F probably damaging Het
Unc79 T C 12: 103,025,629 (GRCm39) C339R probably damaging Het
Vmn2r87 T C 10: 130,315,691 (GRCm39) D125G probably benign Het
Yap1 A T 9: 7,938,432 (GRCm39) *358K probably null Het
Zfp992 C T 4: 146,551,976 (GRCm39) H566Y 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
IGL02830:Sec31b APN 19 44,520,142 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCTTCCTGACATTAGGCACGG -3'
(R):5'- TGAGTTGTCTTAAAGCCAGTGAAG -3'

Sequencing Primer
(F):5'- CCCTAAAACTTGGTTCTAGCTAAC -3'
(R):5'- GACACTTGTCTGAGAGATCACAGTC -3'
Posted On 2015-05-14