Incidental Mutation 'IGL01585:Scfd1'
ID 93328
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 # IGL01585
Quality Score
Status
Chromosome 12
Chromosomal Location 51424296-51496887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51462336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 397 (D397G)
Ref Sequence ENSEMBL: ENSMUSP00000021335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021335] [ENSMUST00000219434]
AlphaFold Q8BRF7
Predicted Effect probably damaging
Transcript: ENSMUST00000021335
AA Change: D397G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: D397G

DomainStartEndE-ValueType
Pfam:Sec1 41 632 1.6e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219434
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,359,045 (GRCm39) D587G probably benign Het
Adcy1 T A 11: 7,117,143 (GRCm39) N1003K probably damaging Het
Alpk1 T C 3: 127,473,462 (GRCm39) D847G probably benign Het
Atp5f1a T C 18: 77,868,758 (GRCm39) V417A possibly damaging Het
Avp A C 2: 130,422,629 (GRCm39) S159A probably benign Het
Brca2 C A 5: 150,462,981 (GRCm39) A915D possibly damaging Het
Cdc42bpg G A 19: 6,370,462 (GRCm39) R1185H possibly damaging Het
Cdcp3 T G 7: 130,846,487 (GRCm39) V637G probably damaging Het
Clrn2 A G 5: 45,617,500 (GRCm39) I124V probably benign Het
Cntn4 A T 6: 106,595,289 (GRCm39) K469* probably null Het
Cxcl1 T A 5: 91,039,583 (GRCm39) N70K probably damaging Het
Dbf4 A G 5: 8,458,492 (GRCm39) probably null Het
Fbn1 A T 2: 125,202,030 (GRCm39) V1281E probably damaging Het
Fgfr3 A T 5: 33,891,305 (GRCm39) Q523L probably damaging Het
Golga5 A G 12: 102,445,954 (GRCm39) K403R probably benign Het
Gpr22 A G 12: 31,759,336 (GRCm39) I262T probably benign Het
Gstm3 G T 3: 107,873,474 (GRCm39) Q166K probably benign Het
Ilf2 T A 3: 90,391,849 (GRCm39) N183K probably damaging Het
Ip6k2 T A 9: 108,673,512 (GRCm39) L40Q probably damaging Het
Itga8 A T 2: 12,165,123 (GRCm39) probably benign Het
Lbr T A 1: 181,653,208 (GRCm39) R70* probably null Het
Lilra6 T C 7: 3,917,498 (GRCm39) T166A probably benign Het
Map3k4 T C 17: 12,467,846 (GRCm39) K1063E probably damaging Het
Msi1 T C 5: 115,568,949 (GRCm39) probably null Het
Pam A G 1: 97,792,197 (GRCm39) V408A probably damaging Het
Plxna1 A G 6: 89,306,538 (GRCm39) probably null Het
Ppp1r36 A T 12: 76,485,891 (GRCm39) probably null Het
Prrt4 A G 6: 29,177,689 (GRCm39) S27P probably benign Het
Psmg1 G A 16: 95,789,221 (GRCm39) T112I possibly damaging Het
Rfx7 T G 9: 72,524,343 (GRCm39) I511S probably benign Het
Ros1 G A 10: 52,031,198 (GRCm39) T481M probably damaging Het
Sel1l3 A G 5: 53,311,578 (GRCm39) Y636H probably damaging Het
Sgms1 T G 19: 32,120,245 (GRCm39) R220S probably damaging Het
Slc37a3 A T 6: 39,314,196 (GRCm39) I472N probably damaging Het
Syne2 A G 12: 75,995,834 (GRCm39) probably null Het
Tert T C 13: 73,782,463 (GRCm39) V579A probably benign Het
Ush2a A T 1: 188,162,924 (GRCm39) H1002L probably damaging 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
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
IGL02327:Scfd1 APN 12 51,436,100 (GRCm39) missense possibly damaging 0.81
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 2013-12-09