Incidental Mutation 'IGL02327:Scfd1'
ID 288511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scfd1
Ensembl Gene ENSMUSG00000020952
Gene Name Sec1 family domain containing 1
Synonyms RA410, STXBP1L2, 3110021P21Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # IGL02327
Quality Score
Status
Chromosome 12
Chromosomal Location 51424296-51496887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51436100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 83 (V83A)
Ref Sequence ENSEMBL: ENSMUSP00000151347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021335] [ENSMUST00000219434]
AlphaFold Q8BRF7
Predicted Effect possibly damaging
Transcript: ENSMUST00000021335
AA Change: V83A

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: V83A

DomainStartEndE-ValueType
Pfam:Sec1 41 632 1.6e-109 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218131
Predicted Effect possibly damaging
Transcript: ENSMUST00000219434
AA Change: V83A

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219799
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,943,849 (GRCm39) C29S probably damaging Het
Ccdc66 G A 14: 27,215,343 (GRCm39) A399V probably damaging Het
Ccl12 A G 11: 81,993,948 (GRCm39) I68M possibly damaging Het
Cd244a T C 1: 171,386,909 (GRCm39) V6A probably benign Het
Cfap97 T A 8: 46,623,179 (GRCm39) S190T probably damaging Het
Chic2 G T 5: 75,187,741 (GRCm39) C106* probably null Het
Ctdsp2 G A 10: 126,832,251 (GRCm39) D237N probably benign Het
Cyp2a22 A T 7: 26,634,206 (GRCm39) M316K probably damaging Het
Cyp3a25 A G 5: 145,923,731 (GRCm39) F304S possibly damaging Het
Ddc A T 11: 11,813,739 (GRCm39) V209D probably damaging Het
Dhx16 A G 17: 36,194,717 (GRCm39) K446R probably benign Het
Fgd3 T C 13: 49,439,274 (GRCm39) K241E probably damaging Het
Hps1 G T 19: 42,744,784 (GRCm39) probably benign Het
Inpp4b C T 8: 82,768,591 (GRCm39) T700I probably benign Het
Kremen2 T A 17: 23,962,543 (GRCm39) M157L probably benign Het
Lrwd1 T C 5: 136,152,318 (GRCm39) Y582C probably damaging Het
Macf1 T A 4: 123,365,523 (GRCm39) R1514S probably benign Het
Mex3c T A 18: 73,723,781 (GRCm39) C625S probably damaging Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Ncf2 A T 1: 152,692,744 (GRCm39) Y87F possibly damaging Het
Neo1 T C 9: 58,810,371 (GRCm39) T1027A probably benign Het
Nfkbib G T 7: 28,458,568 (GRCm39) P347Q probably benign Het
Nr1h2 G A 7: 44,200,924 (GRCm39) probably benign Het
Or1e25 A T 11: 73,493,981 (GRCm39) T192S probably damaging Het
Or2t43 T A 11: 58,457,761 (GRCm39) R137W probably damaging Het
Or9m2 A T 2: 87,820,601 (GRCm39) I49F probably damaging Het
Oxct1 A G 15: 4,066,571 (GRCm39) probably null Het
Pak1ip1 T G 13: 41,165,893 (GRCm39) N308K probably benign Het
Prpf38a T C 4: 108,425,607 (GRCm39) R224G unknown Het
Tmem131 C T 1: 36,838,103 (GRCm39) G1545D probably damaging Het
Trav13n-4 A T 14: 53,601,567 (GRCm39) probably benign Het
Ttc3 A G 16: 94,248,967 (GRCm39) D1155G probably damaging Het
Unc80 G A 1: 66,680,832 (GRCm39) V2143I probably benign Het
Vmn2r16 T C 5: 109,487,987 (GRCm39) Y287H probably benign Het
Vmn2r59 A G 7: 41,661,655 (GRCm39) V720A probably benign Het
Wars1 T A 12: 108,832,227 (GRCm39) probably null Het
Wdcp A G 12: 4,901,115 (GRCm39) K324E possibly damaging Het
Wdfy3 A T 5: 102,036,058 (GRCm39) L2105H probably damaging Het
Xirp2 A T 2: 67,340,444 (GRCm39) D895V probably damaging Het
Zscan10 A T 17: 23,826,546 (GRCm39) probably benign Het
Other mutations in Scfd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Scfd1 APN 12 51,474,652 (GRCm39) missense probably benign 0.01
IGL00640:Scfd1 APN 12 51,436,098 (GRCm39) missense probably benign 0.12
IGL01481:Scfd1 APN 12 51,430,903 (GRCm39) missense probably damaging 0.99
IGL01585:Scfd1 APN 12 51,462,336 (GRCm39) missense probably damaging 1.00
IGL01862:Scfd1 APN 12 51,492,494 (GRCm39) missense probably damaging 1.00
IGL02000:Scfd1 APN 12 51,460,900 (GRCm39) missense probably benign 0.03
IGL02226:Scfd1 APN 12 51,436,164 (GRCm39) splice site probably benign
IGL02503:Scfd1 APN 12 51,469,704 (GRCm39) missense possibly damaging 0.90
IGL02585:Scfd1 APN 12 51,433,890 (GRCm39) missense probably damaging 0.97
IGL02732:Scfd1 APN 12 51,469,756 (GRCm39) missense probably benign 0.01
R0671:Scfd1 UTSW 12 51,459,411 (GRCm39) missense probably benign 0.01
R0707:Scfd1 UTSW 12 51,459,360 (GRCm39) missense probably damaging 0.98
R1467:Scfd1 UTSW 12 51,478,281 (GRCm39) missense possibly damaging 0.49
R1467:Scfd1 UTSW 12 51,478,281 (GRCm39) missense possibly damaging 0.49
R1962:Scfd1 UTSW 12 51,469,769 (GRCm39) missense probably benign 0.00
R2173:Scfd1 UTSW 12 51,433,862 (GRCm39) missense probably benign 0.22
R2249:Scfd1 UTSW 12 51,462,299 (GRCm39) missense possibly damaging 0.48
R3872:Scfd1 UTSW 12 51,438,979 (GRCm39) missense probably damaging 0.98
R4080:Scfd1 UTSW 12 51,478,302 (GRCm39) missense probably benign
R4356:Scfd1 UTSW 12 51,486,068 (GRCm39) missense probably benign 0.00
R4841:Scfd1 UTSW 12 51,436,109 (GRCm39) missense probably damaging 0.96
R4842:Scfd1 UTSW 12 51,436,109 (GRCm39) missense probably damaging 0.96
R4909:Scfd1 UTSW 12 51,437,195 (GRCm39) missense probably benign 0.00
R5004:Scfd1 UTSW 12 51,491,777 (GRCm39) missense probably benign 0.03
R5275:Scfd1 UTSW 12 51,462,372 (GRCm39) missense probably benign 0.19
R5494:Scfd1 UTSW 12 51,443,522 (GRCm39) splice site probably null
R5779:Scfd1 UTSW 12 51,478,312 (GRCm39) missense probably benign
R6000:Scfd1 UTSW 12 51,492,457 (GRCm39) missense possibly damaging 0.55
R6017:Scfd1 UTSW 12 51,492,461 (GRCm39) missense probably damaging 1.00
R6522:Scfd1 UTSW 12 51,478,324 (GRCm39) missense probably benign 0.04
R6954:Scfd1 UTSW 12 51,474,729 (GRCm39) critical splice donor site probably null
R7748:Scfd1 UTSW 12 51,436,140 (GRCm39) missense probably benign 0.21
R7993:Scfd1 UTSW 12 51,492,490 (GRCm39) missense probably damaging 1.00
R8122:Scfd1 UTSW 12 51,480,052 (GRCm39) missense possibly damaging 0.95
R8353:Scfd1 UTSW 12 51,459,374 (GRCm39) missense possibly damaging 0.91
R8453:Scfd1 UTSW 12 51,459,374 (GRCm39) missense possibly damaging 0.91
R8890:Scfd1 UTSW 12 51,474,678 (GRCm39) missense probably benign
R9284:Scfd1 UTSW 12 51,439,024 (GRCm39) missense probably benign 0.00
R9294:Scfd1 UTSW 12 51,440,649 (GRCm39) missense possibly damaging 0.76
RF007:Scfd1 UTSW 12 51,469,756 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16