Incidental Mutation 'IGL02503:Scfd1'
ID 296156
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 # IGL02503
Quality Score
Status
Chromosome 12
Chromosomal Location 51424296-51496887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51469704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 416 (D416E)
Ref Sequence ENSEMBL: ENSMUSP00000021335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021335]
AlphaFold Q8BRF7
Predicted Effect possibly damaging
Transcript: ENSMUST00000021335
AA Change: D416E

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: D416E

DomainStartEndE-ValueType
Pfam:Sec1 41 632 1.6e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219686
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 56,008,962 (GRCm39) W822R probably damaging Het
Ago4 A T 4: 126,390,598 (GRCm39) Y807* probably null Het
Alkbh8 G A 9: 3,347,852 (GRCm39) G215D probably damaging Het
Cfap57 C T 4: 118,426,545 (GRCm39) probably null Het
Cspg4 G A 9: 56,804,687 (GRCm39) V1833M probably damaging Het
Cyp4f17 T C 17: 32,743,940 (GRCm39) probably null Het
Dapk1 T A 13: 60,909,621 (GRCm39) Y1411* probably null Het
Dmrtc1b T A X: 101,758,366 (GRCm39) S199T possibly damaging Het
Elk4 A G 1: 131,942,277 (GRCm39) N50D probably damaging Het
Filip1l T A 16: 57,391,938 (GRCm39) V604E probably benign Het
Fmo3 A T 1: 162,796,433 (GRCm39) H46Q probably benign Het
Fndc1 T A 17: 7,990,348 (GRCm39) Y1116F unknown Het
Fpr-rs3 T A 17: 20,844,817 (GRCm39) N108I probably damaging Het
Glmn A T 5: 107,710,644 (GRCm39) M316K probably damaging Het
Gm5591 C A 7: 38,219,433 (GRCm39) R480I probably damaging Het
Gm8122 G T 14: 43,092,645 (GRCm39) R39S unknown Het
Gprasp1 T A X: 134,703,279 (GRCm39) Y1157* probably null Het
H2bc21 A G 3: 96,128,539 (GRCm39) T20A probably benign Het
Hsf1 T C 15: 76,382,870 (GRCm39) L370P probably benign Het
Iqsec1 T A 6: 90,645,770 (GRCm39) I809F probably damaging Het
Itsn1 G T 16: 91,686,092 (GRCm39) M54I possibly damaging Het
Klra2 T C 6: 131,207,057 (GRCm39) N184S probably benign Het
Lifr T A 15: 7,215,104 (GRCm39) V737E probably damaging Het
Lrpprc T C 17: 85,033,767 (GRCm39) T1037A probably benign Het
Map3k13 A T 16: 21,727,454 (GRCm39) I439F possibly damaging Het
Megf8 T C 7: 25,062,988 (GRCm39) V2448A possibly damaging Het
Mthfd1l T A 10: 4,033,824 (GRCm39) V737D probably damaging Het
Mtm1 A G X: 70,343,276 (GRCm39) T386A probably damaging Het
Muc5b T C 7: 141,421,404 (GRCm39) V4298A probably benign Het
Or10ag2 T G 2: 87,248,636 (GRCm39) F81L probably benign Het
Or5w18 A T 2: 87,632,864 (GRCm39) I44F probably benign Het
Or8k21 C T 2: 86,144,983 (GRCm39) G216R possibly damaging Het
Plch1 A G 3: 63,605,285 (GRCm39) S1531P probably damaging Het
Poc1b T A 10: 98,980,210 (GRCm39) probably benign Het
Rictor T A 15: 6,815,924 (GRCm39) N1065K probably benign Het
Rpsa A G 9: 119,957,659 (GRCm39) E35G possibly damaging Het
Sdad1 A T 5: 92,449,661 (GRCm39) probably benign Het
Skor1 A G 9: 63,053,397 (GRCm39) S191P probably damaging Het
Slc28a2 T C 2: 122,288,693 (GRCm39) F600L probably benign Het
Tmem229b-ps A G 10: 53,351,250 (GRCm39) noncoding transcript Het
Top2b A G 14: 16,407,163 (GRCm38) M678V possibly damaging Het
Ttn T C 2: 76,617,107 (GRCm39) N8092S probably damaging Het
Ttn C T 2: 76,572,033 (GRCm39) V26287I probably damaging Het
Tulp4 T A 17: 6,263,666 (GRCm39) I345N probably damaging Het
U2surp C T 9: 95,384,622 (GRCm39) V21I probably benign Het
Ubr5 T C 15: 38,018,564 (GRCm39) T859A possibly damaging Het
Ubr5 T C 15: 38,018,558 (GRCm39) K861E probably damaging Het
Unc13d A G 11: 115,959,628 (GRCm39) V617A possibly damaging Het
Vmn2r10 T C 5: 109,151,341 (GRCm39) Y91C probably damaging Het
Vmn2r120 T A 17: 57,816,385 (GRCm39) I657F probably benign Het
Wwc2 T C 8: 48,302,418 (GRCm39) R931G unknown 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
IGL02327:Scfd1 APN 12 51,436,100 (GRCm39) missense possibly damaging 0.81
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