Incidental Mutation 'R5156:Sec13'
ID 396726
Institutional Source Beutler Lab
Gene Symbol Sec13
Ensembl Gene ENSMUSG00000030298
Gene Name SEC13 homolog, nuclear pore and COPII coat complex component
Synonyms 1110003H02Rik, Sec13l1, Sec13r
MMRRC Submission 042738-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R5156 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 113705013-113717642 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113707837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 161 (A161V)
Ref Sequence ENSEMBL: ENSMUSP00000032440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032440]
AlphaFold Q9D1M0
Predicted Effect probably benign
Transcript: ENSMUST00000032440
AA Change: A161V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000032440
Gene: ENSMUSG00000030298
AA Change: A161V

DomainStartEndE-ValueType
WD40 1 41 7.39e-3 SMART
WD40 46 87 5.55e-7 SMART
WD40 92 133 8.75e-5 SMART
WD40 139 195 2.67e-1 SMART
WD40 201 244 6.73e-6 SMART
WD40 254 290 9.75e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145979
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203364
Meta Mutation Damage Score 0.1833 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik G T 17: 79,935,638 (GRCm39) probably benign Het
Apeh C T 9: 107,971,486 (GRCm39) A29T probably damaging Het
Arap2 A T 5: 62,826,524 (GRCm39) Y1013* probably null Het
Arhgef4 A G 1: 34,762,355 (GRCm39) E537G unknown Het
Asf1b T C 8: 84,682,540 (GRCm39) F28S probably damaging Het
Cd46 T A 1: 194,767,693 (GRCm39) I123L possibly damaging Het
Cdca7 A T 2: 72,309,370 (GRCm39) T48S probably damaging Het
Cfap53 T A 18: 74,492,838 (GRCm39) probably benign Het
Clca3a2 T A 3: 144,511,599 (GRCm39) T599S probably benign Het
Csf1 T A 3: 107,656,252 (GRCm39) T148S probably benign Het
Dmbt1 T C 7: 130,699,400 (GRCm39) probably null Het
Dmpk A G 7: 18,818,050 (GRCm39) D44G probably damaging Het
Dnajb12 T A 10: 59,728,782 (GRCm39) N223K probably damaging Het
Dync1h1 T A 12: 110,595,264 (GRCm39) M1392K probably benign Het
Edrf1 C T 7: 133,261,908 (GRCm39) A867V probably damaging Het
Efemp2 T A 19: 5,527,706 (GRCm39) C94S possibly damaging Het
Epha8 C T 4: 136,666,037 (GRCm39) S373N probably benign Het
Foxk1 A G 5: 142,434,588 (GRCm39) D284G possibly damaging Het
Fzd10 C A 5: 128,678,366 (GRCm39) R29S possibly damaging Het
Gm13991 T C 2: 116,358,665 (GRCm39) noncoding transcript Het
Gm6818 A T 7: 38,101,471 (GRCm39) noncoding transcript Het
Hydin T A 8: 111,336,333 (GRCm39) C5037S probably benign Het
Ikzf1 T A 11: 11,719,448 (GRCm39) M492K probably damaging Het
Krt20 G T 11: 99,320,879 (GRCm39) S394R possibly damaging Het
Lrrc71 T A 3: 87,653,094 (GRCm39) R107S probably benign Het
Mia2 A G 12: 59,219,323 (GRCm39) T436A possibly damaging Het
Muc19 T A 15: 91,784,614 (GRCm39) noncoding transcript Het
Neu4 T C 1: 93,952,177 (GRCm39) V182A probably damaging Het
Notch2 T G 3: 98,031,626 (GRCm39) F1167V possibly damaging Het
Nrap A G 19: 56,360,277 (GRCm39) M189T possibly damaging Het
Nt5m A T 11: 59,765,487 (GRCm39) I172F probably damaging Het
Or5b118 G T 19: 13,449,037 (GRCm39) K234N probably damaging Het
Or5w15 G A 2: 87,568,119 (GRCm39) P183L possibly damaging Het
Or8k41 A T 2: 86,313,362 (GRCm39) C241* probably null Het
Plekha5 C T 6: 140,372,254 (GRCm39) T68M probably damaging Het
Ppef2 A G 5: 92,392,461 (GRCm39) probably null Het
Ppp1r37 T C 7: 19,295,900 (GRCm39) probably benign Het
Rfx4 T C 10: 84,704,218 (GRCm39) Y238H probably damaging Het
Sanbr A G 11: 23,543,424 (GRCm39) probably null Het
Serhl G A 15: 82,986,895 (GRCm39) probably benign Het
Slco4a1 T C 2: 180,114,572 (GRCm39) V588A probably benign Het
Slitrk3 T C 3: 72,956,592 (GRCm39) T727A probably benign Het
Sp100 T A 1: 85,601,404 (GRCm39) D241E probably damaging Het
Spata2 G T 2: 167,325,494 (GRCm39) H442N probably damaging Het
Speg T C 1: 75,404,731 (GRCm39) V2588A probably damaging Het
Tnfsf12 A G 11: 69,578,155 (GRCm39) S141P probably damaging Het
Trank1 A G 9: 111,219,762 (GRCm39) I2166M probably damaging Het
Trim10 T A 17: 37,187,948 (GRCm39) V388E probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r10 A G 5: 109,143,466 (GRCm39) V828A probably benign Het
Vmn2r75 T A 7: 85,813,436 (GRCm39) L455F possibly damaging Het
Vwa8 T A 14: 79,221,666 (GRCm39) S541T probably benign Het
Other mutations in Sec13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02044:Sec13 APN 6 113,713,381 (GRCm39) missense probably damaging 1.00
BB005:Sec13 UTSW 6 113,706,601 (GRCm39) missense probably damaging 1.00
BB015:Sec13 UTSW 6 113,706,601 (GRCm39) missense probably damaging 1.00
R0470:Sec13 UTSW 6 113,717,593 (GRCm39) unclassified probably benign
R0507:Sec13 UTSW 6 113,712,080 (GRCm39) missense probably damaging 1.00
R1269:Sec13 UTSW 6 113,714,956 (GRCm39) missense probably damaging 0.98
R4120:Sec13 UTSW 6 113,711,637 (GRCm39) missense probably damaging 1.00
R4624:Sec13 UTSW 6 113,706,652 (GRCm39) missense probably benign 0.02
R4938:Sec13 UTSW 6 113,712,153 (GRCm39) missense probably damaging 1.00
R6065:Sec13 UTSW 6 113,707,793 (GRCm39) missense probably benign 0.01
R6302:Sec13 UTSW 6 113,712,167 (GRCm39) missense probably damaging 1.00
R7265:Sec13 UTSW 6 113,712,097 (GRCm39) nonsense probably null
R7928:Sec13 UTSW 6 113,706,601 (GRCm39) missense probably damaging 1.00
R8034:Sec13 UTSW 6 113,712,050 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAGACTTTACTGGCAGGGAG -3'
(R):5'- ACCCCTACTTGGTGTGTATGTAC -3'

Sequencing Primer
(F):5'- GAAAGGTGATCTTGCTTTTTGTACAC -3'
(R):5'- TGGCAGGTCAACAATCTTGC -3'
Posted On 2016-06-21