Incidental Mutation 'R0815:Sec31b'
ID 78604
Institutional Source Beutler Lab
Gene Symbol Sec31b
Ensembl Gene ENSMUSG00000051984
Gene Name SEC31 homolog B, COPII coat complex component
Synonyms Sec31l2, LOC240667
MMRRC Submission 038995-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R0815 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 44505396-44534287 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 44506612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 909 (Q909*)
Ref Sequence ENSEMBL: ENSMUSP00000107616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041163] [ENSMUST00000063632] [ENSMUST00000111985]
AlphaFold Q3TZ89
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: Q1066*
SMART Domains Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: Q1066*

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: Q909*
SMART Domains Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: Q909*

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,865,184 (GRCm39) probably benign Het
Abcf2 A T 5: 24,772,268 (GRCm39) Y487N probably damaging Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Atp2a2 T C 5: 122,609,299 (GRCm39) I188V probably benign Het
Cacna1s A T 1: 136,040,695 (GRCm39) I1231F possibly damaging Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Celsr2 G T 3: 108,308,617 (GRCm39) T1770K possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Dpp10 A G 1: 123,360,658 (GRCm39) probably null Het
Dscaml1 A G 9: 45,656,372 (GRCm39) I1571V probably benign Het
Eif3j2 T A 18: 43,610,036 (GRCm39) Y259F probably benign Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fbxo21 T C 5: 118,133,573 (GRCm39) probably benign Het
Frmd8 A T 19: 5,915,084 (GRCm39) probably benign Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Lipm A T 19: 34,096,161 (GRCm39) T326S probably benign Het
Lrrc8c T C 5: 105,756,400 (GRCm39) L725P probably damaging Het
Map3k19 A G 1: 127,762,375 (GRCm39) probably benign Het
Med31 T A 11: 72,104,657 (GRCm39) N50I probably damaging Het
Myo15b T G 11: 115,757,162 (GRCm39) probably benign Het
Nemp1 T C 10: 127,528,893 (GRCm39) L199S probably damaging Het
Nod2 G A 8: 89,399,290 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or2ak6 A G 11: 58,593,435 (GRCm39) R303G possibly damaging Het
Or5b21 A G 19: 12,840,008 (GRCm39) I290V probably benign Het
Parva G A 7: 112,167,071 (GRCm39) V215M probably damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Rbm11 C T 16: 75,393,525 (GRCm39) R74C probably damaging Het
Robo3 A G 9: 37,333,479 (GRCm39) V744A probably damaging Het
Rsbn1 T G 3: 103,861,469 (GRCm39) S522A probably damaging Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Slc38a11 T A 2: 65,184,124 (GRCm39) I176L possibly damaging Het
Slc39a4 C T 15: 76,496,839 (GRCm39) D574N probably damaging Het
Slc44a1 T G 4: 53,536,421 (GRCm39) V199G possibly damaging Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Son C A 16: 91,452,372 (GRCm39) A373D probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Speg A G 1: 75,392,036 (GRCm39) Y1606C probably damaging Het
Srgap1 A T 10: 121,621,379 (GRCm39) V1061D probably damaging Het
Stat5a A G 11: 100,765,908 (GRCm39) probably null Het
Supt4a T A 11: 87,628,409 (GRCm39) probably benign Het
Teddm1b A G 1: 153,750,638 (GRCm39) K149R possibly damaging Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Upp2 A G 2: 58,661,568 (GRCm39) T144A probably benign Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R possibly 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
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
Predicted Primers PCR Primer
(F):5'- TGTGCCCTGCTCCTGTAAATGAC -3'
(R):5'- AGGTGGAAGTAACCCTTGAGCCTG -3'

Sequencing Primer
(F):5'- gctcctgtaaatgaccatgctc -3'
(R):5'- TGCAGCGGCAGGTATGAC -3'
Posted On 2013-10-16