Incidental Mutation 'R8122:Scfd1'
ID 631564
Institutional Source Beutler Lab
Gene Symbol Scfd1
Ensembl Gene ENSMUSG00000020952
Gene Name Sec1 family domain containing 1
Synonyms RA410, STXBP1L2, 3110021P21Rik
MMRRC Submission 067551-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R8122 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 51424296-51496887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51480052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 528 (V528E)
Ref Sequence ENSEMBL: ENSMUSP00000021335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021335]
AlphaFold Q8BRF7
Predicted Effect possibly damaging
Transcript: ENSMUST00000021335
AA Change: V528E

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: V528E

DomainStartEndE-ValueType
Pfam:Sec1 41 632 1.6e-109 PFAM
Predicted Effect
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.0%
  • 20x: 97.5%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A G 16: 8,433,761 (GRCm39) Y426C probably damaging Het
Acsbg3 T A 17: 57,193,670 (GRCm39) V672E possibly damaging Het
Adgrv1 A G 13: 81,419,037 (GRCm39) V5986A probably damaging Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Ahnak2 T C 12: 112,742,510 (GRCm39) S521G possibly damaging Het
Amer2 A T 14: 60,616,791 (GRCm39) M329L possibly damaging Het
Arhgap20 A G 9: 51,761,293 (GRCm39) N1048S probably damaging Het
Asah1 T C 8: 41,796,767 (GRCm39) E305G probably benign Het
AW551984 T A 9: 39,510,665 (GRCm39) K223N probably damaging Het
Bptf C A 11: 106,927,417 (GRCm39) probably null Het
C1qtnf6 T C 15: 78,411,446 (GRCm39) N77D probably benign Het
Capn13 T A 17: 73,674,205 (GRCm39) I83F probably damaging Het
Cd6 A G 19: 10,770,231 (GRCm39) F487L probably damaging Het
Cit T C 5: 116,107,069 (GRCm39) V1067A probably damaging Het
Cspg4b A T 13: 113,455,442 (GRCm39) D496V Het
Csrnp1 T C 9: 119,802,273 (GRCm39) D262G probably damaging Het
Cyp2d11 T A 15: 82,276,744 (GRCm39) Q65L probably benign Het
Dbt T A 3: 116,313,891 (GRCm39) C19* probably null Het
Dgkg A C 16: 22,385,295 (GRCm39) probably null Het
Eif4g2 T C 7: 110,677,760 (GRCm39) I118V possibly damaging Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Gpr158 A T 2: 21,831,674 (GRCm39) M925L probably benign Het
Kcnn2 T G 18: 45,810,005 (GRCm39) V414G probably damaging Het
Lama2 G A 10: 26,930,592 (GRCm39) H2055Y possibly damaging Het
Loxl3 T A 6: 83,026,240 (GRCm39) W443R probably damaging Het
Mab21l1 A T 3: 55,690,905 (GRCm39) D164V probably benign Het
Mroh7 T C 4: 106,559,726 (GRCm39) T734A probably damaging Het
Or2y1f C A 11: 49,184,401 (GRCm39) N84K probably damaging Het
Or8g35 A G 9: 39,381,822 (GRCm39) S67P probably damaging Het
Pkhd1 C T 1: 20,632,682 (GRCm39) E578K probably damaging Het
Pld2 T A 11: 70,432,259 (GRCm39) L126* probably null Het
Polk A T 13: 96,620,291 (GRCm39) N716K probably benign Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Prom1 T C 5: 44,170,295 (GRCm39) K669E probably benign Het
Sag A G 1: 87,762,289 (GRCm39) D318G probably damaging Het
Scn4a A G 11: 106,221,157 (GRCm39) L834P probably benign Het
Shank1 G T 7: 43,983,015 (GRCm39) G637V unknown Het
Slc12a6 A G 2: 112,097,167 (GRCm39) M1V probably null Het
St6gal1 A G 16: 23,173,644 (GRCm39) K242R probably benign Het
Syt3 A G 7: 44,045,153 (GRCm39) Y495C probably damaging Het
Taar8c C T 10: 23,977,107 (GRCm39) S235N probably benign Het
Tmem183a A T 1: 134,282,503 (GRCm39) C201S probably benign Het
Top2a T C 11: 98,889,993 (GRCm39) I1237V probably benign Het
Trub1 G T 19: 57,473,563 (GRCm39) V207L probably benign Het
Ttll13 T A 7: 79,909,217 (GRCm39) I634N probably benign Het
Ube2j1 T G 4: 33,045,145 (GRCm39) N208K probably benign Het
Wdr17 A G 8: 55,118,011 (GRCm39) S569P 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
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
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
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
Predicted Primers PCR Primer
(F):5'- CTGCAGCAATGATATCCATGG -3'
(R):5'- AGAAGTCTTATTTCCCTACTATGCC -3'

Sequencing Primer
(F):5'- TCCATGGAAGTAGAAATGTTCACAGC -3'
(R):5'- GCCAATAAGGATCCTTTGGTTC -3'
Posted On 2020-06-30