Incidental Mutation 'R7717:Sec11c'
ID 595003
Institutional Source Beutler Lab
Gene Symbol Sec11c
Ensembl Gene ENSMUSG00000024516
Gene Name SEC11 homolog C, signal peptidase complex subunit
Synonyms Sec11l3, 1810029G24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7717 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 65933649-65950731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 65945783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 82 (T82M)
Ref Sequence ENSEMBL: ENSMUSP00000025394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025394] [ENSMUST00000126432] [ENSMUST00000153193]
AlphaFold Q9D8V7
Predicted Effect possibly damaging
Transcript: ENSMUST00000025394
AA Change: T82M

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025394
Gene: ENSMUSG00000024516
AA Change: T82M

DomainStartEndE-ValueType
transmembrane domain 34 56 N/A INTRINSIC
Pfam:Peptidase_S24 63 135 1.6e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126432
AA Change: T82M

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122624
Gene: ENSMUSG00000024516
AA Change: T82M

DomainStartEndE-ValueType
transmembrane domain 34 56 N/A INTRINSIC
Pfam:Peptidase_S24 63 98 6.8e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000153193
AA Change: T96M

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122547
Gene: ENSMUSG00000024516
AA Change: T96M

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
SCOP:d1b12a_ 76 98 1e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 T C 17: 43,761,644 (GRCm39) L1113P probably damaging Het
Aldh3b3 T C 19: 4,013,970 (GRCm39) L57P probably damaging Het
Asb15 A G 6: 24,559,251 (GRCm39) D132G probably benign Het
Cep290 C T 10: 100,328,543 (GRCm39) R111W probably benign Het
Cfap44 A G 16: 44,250,298 (GRCm39) D792G probably damaging Het
Col20a1 C T 2: 180,649,408 (GRCm39) R1029W probably damaging Het
Csf3r A G 4: 125,931,403 (GRCm39) Y462C probably damaging Het
Cthrc1 T C 15: 38,940,511 (GRCm39) V38A probably benign Het
Cxcr2 T C 1: 74,197,998 (GRCm39) V164A probably benign Het
Efr3b A G 12: 4,034,574 (GRCm39) S199P probably damaging Het
Elavl4 A G 4: 110,063,663 (GRCm39) C342R probably damaging Het
Gemin5 A T 11: 58,042,356 (GRCm39) probably null Het
Gm14190 A T 11: 99,581,476 (GRCm39) C31S unknown Het
Golt1b T A 6: 142,339,769 (GRCm39) V78D probably damaging Het
Gsdmc3 T A 15: 63,741,061 (GRCm39) D29V probably damaging Het
Itih1 T A 14: 30,653,142 (GRCm39) D766V probably damaging Het
Larp1b C T 3: 40,926,879 (GRCm39) S251F probably damaging Het
Lrp8 A G 4: 107,691,940 (GRCm39) T115A probably benign Het
Lrrc37a A G 11: 103,395,126 (GRCm39) S100P probably benign Het
Lss T C 10: 76,381,286 (GRCm39) V424A possibly damaging Het
Ltbp1 T C 17: 75,597,073 (GRCm39) V568A possibly damaging Het
Myo10 A T 15: 25,732,056 (GRCm39) T311S probably benign Het
Nsd3 T C 8: 26,172,578 (GRCm39) V779A probably benign Het
Or10ak12 A T 4: 118,666,130 (GRCm39) S310R probably damaging Het
Or11h23 T A 14: 50,948,219 (GRCm39) L144Q probably damaging Het
Or2ag16 A G 7: 106,351,843 (GRCm39) W251R possibly damaging Het
Or2n1e C A 17: 38,586,471 (GRCm39) Q270K probably damaging Het
Or51v8 T C 7: 103,320,152 (GRCm39) T29A probably benign Het
Or5b21 A T 19: 12,839,159 (GRCm39) I7F probably benign Het
Pak1 T A 7: 97,535,555 (GRCm39) D215E probably benign Het
Pde7b A G 10: 20,282,937 (GRCm39) F355L probably benign Het
Phaf1 C A 8: 105,978,236 (GRCm39) Q397K probably benign Het
Pi4ka A G 16: 17,194,787 (GRCm39) S204P Het
Pirb T C 7: 3,720,782 (GRCm39) K239E not run Het
Pirb C T 7: 3,720,800 (GRCm39) G233R not run Het
Pnp G A 14: 51,188,460 (GRCm39) M211I probably benign Het
Pot1a A T 6: 25,758,822 (GRCm39) L319Q probably benign Het
Rspry1 G T 8: 95,349,750 (GRCm39) C46F probably damaging Het
Sanbr A C 11: 23,556,757 (GRCm39) C408G probably benign Het
Secisbp2 T C 13: 51,827,134 (GRCm39) V414A probably benign Het
Tenm2 A G 11: 36,755,762 (GRCm39) F79L probably damaging Het
Vmn2r2 A G 3: 64,042,019 (GRCm39) V232A possibly damaging Het
Zbtb17 T C 4: 141,193,394 (GRCm39) S593P probably damaging Het
Zfp143 T G 7: 109,685,427 (GRCm39) C419G possibly damaging Het
Zfp804b T C 5: 6,821,293 (GRCm39) N590S possibly damaging Het
Other mutations in Sec11c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1912:Sec11c UTSW 18 65,947,945 (GRCm39) missense probably damaging 1.00
R2114:Sec11c UTSW 18 65,933,720 (GRCm39) missense probably benign 0.00
R2115:Sec11c UTSW 18 65,933,720 (GRCm39) missense probably benign 0.00
R2116:Sec11c UTSW 18 65,933,720 (GRCm39) missense probably benign 0.00
R2117:Sec11c UTSW 18 65,933,720 (GRCm39) missense probably benign 0.00
R4869:Sec11c UTSW 18 65,934,541 (GRCm39) missense probably benign 0.00
R7161:Sec11c UTSW 18 65,945,803 (GRCm39) missense probably benign 0.01
R7185:Sec11c UTSW 18 65,947,963 (GRCm39) missense probably damaging 1.00
R8520:Sec11c UTSW 18 65,947,911 (GRCm39) missense probably damaging 0.98
R8977:Sec11c UTSW 18 65,945,818 (GRCm39) missense possibly damaging 0.57
R9398:Sec11c UTSW 18 65,942,568 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- ATGTCCTCATCTGAGCTGGAG -3'
(R):5'- AAAGTCAGGTCACTGGTGC -3'

Sequencing Primer
(F):5'- CCTCATCTGAGCTGGAGGGAAG -3'
(R):5'- TCACTGGTGCCAAGGAGAC -3'
Posted On 2019-11-12