Incidental Mutation 'R4120:Sec13'
ID 315268
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 040993-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R4120 (G1)
Quality Score 180
Status Validated
Chromosome 6
Chromosomal Location 113705013-113717642 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113711637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 107 (N107S)
Ref Sequence ENSEMBL: ENSMUSP00000032440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032440]
AlphaFold Q9D1M0
Predicted Effect probably damaging
Transcript: ENSMUST00000032440
AA Change: N107S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032440
Gene: ENSMUSG00000030298
AA Change: N107S

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: ENSMUST00000205135
Meta Mutation Damage Score 0.7752 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 93% (55/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C A 1: 25,133,388 (GRCm39) E1233* probably null Het
Afap1l1 T C 18: 61,872,243 (GRCm39) D526G probably damaging Het
Ago4 A G 4: 126,390,600 (GRCm39) Y807H probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Arhgap40 A G 2: 158,374,250 (GRCm39) M222V probably benign Het
Asnsd1 A G 1: 53,387,154 (GRCm39) S158P probably damaging Het
Cdh15 T C 8: 123,590,162 (GRCm39) V365A probably damaging Het
Clca3a2 T C 3: 144,516,613 (GRCm39) M328V probably benign Het
Col4a1 G A 8: 11,256,263 (GRCm39) P1535S unknown Het
Dennd2a G A 6: 39,442,030 (GRCm39) R947C probably damaging Het
Dlg2 G A 7: 91,614,846 (GRCm39) V217I probably damaging Het
Dnaaf2 T C 12: 69,244,812 (GRCm39) D83G possibly damaging Het
Dppa5a A T 9: 78,275,137 (GRCm39) M55K possibly damaging Het
Ect2l A G 10: 18,006,466 (GRCm39) V779A probably benign Het
Ehhadh A G 16: 21,581,934 (GRCm39) S353P probably benign Het
Etv3 A G 3: 87,443,589 (GRCm39) D391G probably benign Het
Fastkd1 T A 2: 69,537,654 (GRCm39) K309N probably damaging Het
Fip1l1 T A 5: 74,748,852 (GRCm39) Y375N probably damaging Het
Flvcr2 T C 12: 85,832,903 (GRCm39) S308P probably benign Het
Fyco1 T C 9: 123,654,691 (GRCm39) Y1065C probably benign Het
Gfra2 A G 14: 71,203,715 (GRCm39) D31G probably damaging Het
Gm17175 A T 14: 51,810,534 (GRCm39) I31N probably damaging Het
Gm6003 T A 7: 32,864,976 (GRCm39) noncoding transcript Het
Gm9951 T C 8: 34,522,993 (GRCm39) noncoding transcript Het
Hspa2 A G 12: 76,452,008 (GRCm39) E234G probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Iqsec1 A T 6: 90,639,584 (GRCm39) Y1065* probably null Het
Ltk T A 2: 119,588,429 (GRCm39) probably benign Het
Map2 G A 1: 66,455,063 (GRCm39) A1318T probably damaging Het
Mas1 A T 17: 13,061,233 (GRCm39) N63K probably damaging Het
Myo15b T C 11: 115,764,318 (GRCm39) S1311P probably benign Het
Nav3 A G 10: 109,739,605 (GRCm39) probably null Het
Nlrp1c-ps T C 11: 71,133,359 (GRCm39) noncoding transcript Het
Oca2 A T 7: 55,904,630 (GRCm39) D32V probably damaging Het
Or51v8 T C 7: 103,320,221 (GRCm39) T6A probably benign Het
Or8b9 T C 9: 37,766,705 (GRCm39) L197S possibly damaging Het
Otub2 T C 12: 103,370,489 (GRCm39) V257A probably damaging Het
Pink1 G A 4: 138,042,822 (GRCm39) R461* probably null Het
Plxna2 T C 1: 194,462,935 (GRCm39) C901R probably damaging Het
Ptchd3 T A 11: 121,721,572 (GRCm39) N148K probably damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Ripor1 T A 8: 106,345,489 (GRCm39) probably benign Het
Slc12a2 A G 18: 58,032,427 (GRCm39) M376V possibly damaging Het
Sp140l2 C T 1: 85,237,542 (GRCm39) V81M possibly damaging Het
Sptbn5 T A 2: 119,895,010 (GRCm39) D798V possibly damaging Het
Stradb T A 1: 59,019,168 (GRCm39) Y30N possibly damaging Het
Syne1 T A 10: 5,359,798 (GRCm39) Q328L probably damaging Het
Ttc23l A C 15: 10,540,006 (GRCm39) V159G probably damaging Het
Vmn2r100 T C 17: 19,752,215 (GRCm39) S753P probably damaging Het
Vmn2r129 G T 4: 156,686,778 (GRCm39) noncoding transcript Het
Vmn2r39 G A 7: 9,026,673 (GRCm39) H443Y probably benign Het
Zfp936 A G 7: 42,839,630 (GRCm39) T366A probably benign Het
Zkscan3 T C 13: 21,578,119 (GRCm39) E256G possibly damaging 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
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
R5156:Sec13 UTSW 6 113,707,837 (GRCm39) missense probably benign 0.05
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'- ACACCCACTCTCTTCCTAGGAG -3'
(R):5'- AAGCTCAGCCTTGAATCTCAG -3'

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