Incidental Mutation 'R7237:Sec31b'
ID 562938
Institutional Source Beutler Lab
Gene Symbol Sec31b
Ensembl Gene ENSMUSG00000051984
Gene Name SEC31 homolog B, COPII coat complex component
Synonyms Sec31l2, LOC240667
MMRRC Submission 045344-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R7237 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 44505396-44534287 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44506147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 920 (T920S)
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 damaging
Transcript: ENSMUST00000063632
AA Change: T1077S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: T1077S

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: T920S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: T920S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (83/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A T 2: 20,854,783 (GRCm39) C1536* probably null Het
Armc9 C A 1: 86,092,571 (GRCm39) Q169K possibly damaging Het
Aspm T A 1: 139,405,667 (GRCm39) M1518K possibly damaging Het
AU018091 A G 7: 3,209,006 (GRCm39) I360T probably benign Het
BB014433 C A 8: 15,091,765 (GRCm39) V363L probably benign Het
Bcam T C 7: 19,503,232 (GRCm39) probably null Het
Cacna1g T C 11: 94,328,705 (GRCm39) S1071G probably benign Het
Card9 A T 2: 26,246,787 (GRCm39) S354T probably benign Het
Ccdc87 A G 19: 4,889,790 (GRCm39) N94S probably benign Het
Cdc27 A G 11: 104,408,245 (GRCm39) V555A probably benign Het
Coro1a T A 7: 126,299,478 (GRCm39) D411V probably benign Het
Cybrd1 GGTCCTGCAC G 2: 70,948,553 (GRCm39) probably benign Het
Cyth1 A T 11: 118,076,321 (GRCm39) I95N probably damaging Het
Dnah7b A T 1: 46,179,126 (GRCm39) E933V probably damaging Het
Dync2h1 A T 9: 6,993,966 (GRCm39) I3968N probably benign Het
Fam184a T C 10: 53,510,489 (GRCm39) probably benign Het
Fat3 G A 9: 16,288,510 (GRCm39) L338F probably damaging Het
Fcgr3 A G 1: 170,886,870 (GRCm39) L18P probably damaging Het
Gbp5 T C 3: 142,213,461 (GRCm39) V459A probably benign Het
Gja4 A T 4: 127,205,956 (GRCm39) M269K probably benign Het
Gm4787 A G 12: 81,424,442 (GRCm39) V572A probably damaging Het
Grin2d G T 7: 45,515,600 (GRCm39) S131* probably null Het
Gys1 A G 7: 45,104,586 (GRCm39) D671G probably benign Het
Haspin T C 11: 73,027,712 (GRCm39) N459S probably benign Het
Hdac10 G T 15: 89,009,580 (GRCm39) Q451K probably benign Het
Hdac9 T C 12: 34,424,139 (GRCm39) probably null Het
Hmcn1 A G 1: 150,598,394 (GRCm39) V1636A probably damaging Het
Hpca A G 4: 129,012,407 (GRCm39) L43P probably damaging Het
Hycc2 G A 1: 58,569,107 (GRCm39) Q491* probably null Het
Insm1 C A 2: 146,064,448 (GRCm39) A88E possibly damaging Het
Itga9 A G 9: 118,465,670 (GRCm39) K175E probably benign Het
Kif13a A G 13: 46,962,632 (GRCm39) probably null Het
Kif20b T A 19: 34,928,005 (GRCm39) L1089H probably damaging Het
Lamp5 A T 2: 135,901,755 (GRCm39) H152L probably benign Het
Lrp4 T C 2: 91,303,528 (GRCm39) F76L probably benign Het
Magi3 T C 3: 103,935,227 (GRCm39) D902G probably damaging Het
Map10 C T 8: 126,397,963 (GRCm39) P452L probably benign Het
Mapk6 A G 9: 75,304,895 (GRCm39) L174P probably damaging Het
Meak7 C T 8: 120,489,054 (GRCm39) G410S probably damaging Het
Ndufa4 C T 6: 11,906,018 (GRCm39) probably null Het
Nedd4 A T 9: 72,632,346 (GRCm39) E393D probably benign Het
Nlrp4b G A 7: 10,449,143 (GRCm39) V449I probably benign Het
Nufip2 T A 11: 77,583,596 (GRCm39) N503K probably benign Het
Or10ac1 T C 6: 42,515,581 (GRCm39) D125G probably damaging Het
Or6y1 C T 1: 174,276,905 (GRCm39) R239C probably benign Het
P4ha1 A G 10: 59,184,065 (GRCm39) T176A probably benign Het
Palm3 A G 8: 84,756,117 (GRCm39) K543R probably benign Het
Parvg G A 15: 84,225,557 (GRCm39) A302T probably benign Het
Pcdh15 A G 10: 74,420,023 (GRCm39) D1227G possibly damaging Het
Pdzd8 C T 19: 59,333,571 (GRCm39) G150D probably damaging Het
Pitpnm2 A G 5: 124,263,360 (GRCm39) probably null Het
Pld5 T C 1: 176,102,301 (GRCm39) Q47R possibly damaging Het
Ppp2r5d T C 17: 46,997,206 (GRCm39) S329G possibly damaging Het
Prss56 T C 1: 87,112,637 (GRCm39) V144A probably damaging Het
Psg28 A T 7: 18,161,769 (GRCm39) Y245N possibly damaging Het
Ptpn3 C T 4: 57,239,625 (GRCm39) V302I probably damaging Het
Ptprn2 A G 12: 117,125,347 (GRCm39) H627R probably benign Het
Rasgrp2 A T 19: 6,454,838 (GRCm39) H226L possibly damaging Het
Rbm20 C T 19: 53,839,930 (GRCm39) T973M probably benign Het
Rigi T A 4: 40,205,938 (GRCm39) I885F probably benign Het
Riok2 T A 17: 17,598,045 (GRCm39) L44Q probably damaging Het
Rusc1 G T 3: 88,998,805 (GRCm39) Q326K possibly damaging Het
Rxylt1 A T 10: 121,917,523 (GRCm39) L330* probably null Het
Sart3 A T 5: 113,892,307 (GRCm39) H397Q possibly damaging Het
Serpinb13 A G 1: 106,926,679 (GRCm39) E225G probably damaging Het
Slc25a47 T C 12: 108,821,386 (GRCm39) L165P probably damaging Het
Slc2a10 G A 2: 165,357,197 (GRCm39) V286I probably benign Het
Slc39a13 G T 2: 90,895,979 (GRCm39) T174N probably benign Het
Slc7a13 T A 4: 19,839,364 (GRCm39) N322K probably benign Het
Stk38 T C 17: 29,193,620 (GRCm39) T326A possibly damaging Het
Sult1a1 T C 7: 126,272,622 (GRCm39) M244V probably benign Het
Tas2r144 C T 6: 42,192,800 (GRCm39) T180I probably damaging Het
Tbc1d12 T A 19: 38,887,346 (GRCm39) M366K probably benign Het
Terb1 T C 8: 105,221,959 (GRCm39) I147V possibly damaging Het
Tnik T C 3: 28,692,568 (GRCm39) Y820H probably damaging Het
Tnxb C A 17: 34,901,170 (GRCm39) L995I possibly damaging Het
Trim34b A G 7: 103,978,794 (GRCm39) T14A possibly damaging Het
Urb1 T C 16: 90,588,054 (GRCm39) E418G probably damaging Het
Vmn1r12 T A 6: 57,136,550 (GRCm39) C216S possibly damaging Het
Vmn2r90 T A 17: 17,924,249 (GRCm39) V16E possibly damaging Het
Vps11 A T 9: 44,265,803 (GRCm39) V492D probably damaging Het
Wdr62 A C 7: 29,969,869 (GRCm39) probably null Het
Zc3h14 T A 12: 98,746,408 (GRCm39) M539K probably benign Het
Zfp871 A T 17: 32,994,289 (GRCm39) H295Q 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
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
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'- GATTAGATGAGCCTACCCCAAC -3'
(R):5'- GTCATTTACAGGAGCAGGGC -3'

Sequencing Primer
(F):5'- AACCCCGGCTCTGACAG -3'
(R):5'- GGAGAGAGCCACCATTCAGTC -3'
Posted On 2019-06-26