Incidental Mutation 'R9294:Scfd1'
ID 704486
Institutional Source Beutler Lab
Gene Symbol Scfd1
Ensembl Gene ENSMUSG00000020952
Gene Name Sec1 family domain containing 1
Synonyms 3110021P21Rik, RA410, STXBP1L2
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R9294 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 51377510-51450101 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51393866 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 187 (M187K)
Ref Sequence ENSEMBL: ENSMUSP00000021335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021335] [ENSMUST00000219434]
AlphaFold Q8BRF7
Predicted Effect possibly damaging
Transcript: ENSMUST00000021335
AA Change: M187K

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: M187K

DomainStartEndE-ValueType
Pfam:Sec1 41 632 1.6e-109 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000219434
AA Change: M187K

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik T G 18: 38,261,076 (GRCm38) L442R probably damaging Het
1700067K01Rik A G 8: 84,003,379 (GRCm38) Y165C probably damaging Het
2410089E03Rik T C 15: 8,203,327 (GRCm38) V1110A probably benign Het
2810474O19Rik T A 6: 149,326,432 (GRCm38) N325K probably benign Het
4930452B06Rik A G 14: 8,578,361 (GRCm38) I127T possibly damaging Het
Abcb11 T A 2: 69,265,496 (GRCm38) K833N possibly damaging Het
Abcb1a T A 5: 8,686,171 (GRCm38) M188K probably benign Het
Akap1 A T 11: 88,837,140 (GRCm38) V672D probably damaging Het
Anapc4 A G 5: 52,864,525 (GRCm38) T650A possibly damaging Het
Ash1l C A 3: 88,982,990 (GRCm38) S725R possibly damaging Het
Axdnd1 T A 1: 156,420,347 (GRCm38) K28* probably null Het
C8b C A 4: 104,786,995 (GRCm38) H286Q probably benign Het
Cacna2d1 A G 5: 16,012,398 (GRCm38) K34E probably damaging Het
Ccdc14 T A 16: 34,697,358 (GRCm38) H154Q probably damaging Het
Ccdc184 A G 15: 98,168,512 (GRCm38) D66G probably damaging Het
Ccdc62 A G 5: 123,954,709 (GRCm38) I586V possibly damaging Het
Chadl A T 15: 81,694,490 (GRCm38) C313S probably damaging Het
Clec14a C A 12: 58,268,750 (GRCm38) A29S probably damaging Het
Col26a1 C T 5: 136,757,754 (GRCm38) G161D probably benign Het
Ctbp2 A G 7: 133,014,232 (GRCm38) S325P probably damaging Het
Dcaf13 A G 15: 39,130,292 (GRCm38) D260G possibly damaging Het
Dhx37 G A 5: 125,422,672 (GRCm38) P575L probably benign Het
Dnajc6 T C 4: 101,550,857 (GRCm38) probably null Het
Eapp T C 12: 54,690,276 (GRCm38) T145A unknown Het
Efcab5 A G 11: 77,121,238 (GRCm38) M730T probably benign Het
Eif4g3 T A 4: 138,190,657 (GRCm38) D1305E probably damaging Het
Endou A T 15: 97,712,065 (GRCm38) V450E probably benign Het
F10 A T 8: 13,048,177 (GRCm38) K127* probably null Het
Fbxw21 A G 9: 109,143,762 (GRCm38) F368S probably damaging Het
Fezf1 A T 6: 23,245,798 (GRCm38) L456Q possibly damaging Het
Foxo3 C T 10: 42,197,025 (GRCm38) V499M probably damaging Het
Fyco1 A C 9: 123,794,813 (GRCm38) C1384G probably damaging Het
Galnt6 G T 15: 100,704,151 (GRCm38) S258R possibly damaging Het
Gemin5 A G 11: 58,137,748 (GRCm38) V882A probably benign Het
Gm10750 A G 2: 149,016,187 (GRCm38) L48P unknown Het
Gm11639 A G 11: 104,831,300 (GRCm38) I1913V probably benign Het
Gm16503 T A 4: 147,541,114 (GRCm38) F22I unknown Het
Hdac10 A G 15: 89,126,277 (GRCm38) C281R probably damaging Het
Hikeshi T C 7: 89,935,760 (GRCm38) S79G probably damaging Het
Ifitm2 AG A 7: 140,955,901 (GRCm38) probably null Het
Itpr3 A G 17: 27,111,217 (GRCm38) E1603G probably damaging Het
Lrrc37a A T 11: 103,504,533 (GRCm38) V22E probably benign Het
Man1a C T 10: 53,933,491 (GRCm38) probably null Het
Mdga1 A G 17: 29,839,897 (GRCm38) L5P probably damaging Het
Mettl7a1 A G 15: 100,313,133 (GRCm38) E213G probably damaging Het
Mup6 A G 4: 60,004,838 (GRCm38) I76M probably benign Het
Nbea A T 3: 56,091,092 (GRCm38) M98K probably benign Het
Nckap1l A G 15: 103,473,539 (GRCm38) E454G probably damaging Het
Notch3 A T 17: 32,143,691 (GRCm38) L1320Q probably benign Het
Nrn1 A T 13: 36,726,674 (GRCm38) L128H probably damaging Het
Numa1 A G 7: 102,012,796 (GRCm38) D1898G probably damaging Het
Numa1 T C 7: 101,995,416 (GRCm38) S200P possibly damaging Het
Olfr1124 G A 2: 87,434,666 (GRCm38) A60T probably benign Het
Olfr152 A C 2: 87,782,523 (GRCm38) probably null Het
Olfr366 T C 2: 37,220,110 (GRCm38) I207T possibly damaging Het
Olfr700 A T 7: 106,806,398 (GRCm38) S21R possibly damaging Het
P2ry6 A T 7: 100,938,926 (GRCm38) Y75* probably null Het
Pbrm1 T A 14: 31,084,803 (GRCm38) C1062* probably null Het
Pcdh15 A G 10: 74,643,728 (GRCm38) E557G unknown Het
Pcdh7 T C 5: 57,721,335 (GRCm38) L744P probably benign Het
Plekhg3 A T 12: 76,562,278 (GRCm38) I142L possibly damaging Het
Plk4 C T 3: 40,811,891 (GRCm38) H695Y probably damaging Het
Pms1 T C 1: 53,208,057 (GRCm38) H243R probably benign Het
Prdm14 T C 1: 13,122,483 (GRCm38) D344G possibly damaging Het
R3hdml A G 2: 163,502,332 (GRCm38) I214V probably benign Het
Rab11fip5 T C 6: 85,348,710 (GRCm38) N238S probably benign Het
Sacs T A 14: 61,240,319 (GRCm38) Y732N possibly damaging Het
Serpina1d A G 12: 103,767,998 (GRCm38) C16R probably damaging Het
Slc2a12 T C 10: 22,665,095 (GRCm38) I283T possibly damaging Het
Smarca5 A G 8: 80,719,803 (GRCm38) Y423H probably damaging Het
Srrm3 C A 5: 135,868,261 (GRCm38) A366E unknown Het
St7 A T 6: 17,844,914 (GRCm38) K134* probably null Het
St8sia5 T G 18: 77,254,829 (GRCm38) C412G probably damaging Het
Tanc2 A T 11: 105,886,458 (GRCm38) I821F probably damaging Het
Tbrg4 A G 11: 6,624,204 (GRCm38) M6T probably benign Het
Tcf20 A T 15: 82,852,696 (GRCm38) I1518N probably benign Het
Tctn3 A G 19: 40,607,276 (GRCm38) V355A probably benign Het
Tenm2 A T 11: 36,024,500 (GRCm38) F2070Y probably damaging Het
Tex2 A G 11: 106,568,535 (GRCm38) V23A probably damaging Het
Thrsp C G 7: 97,417,074 (GRCm38) E144Q probably damaging Het
Top2a A C 11: 99,001,078 (GRCm38) S1114A probably benign Het
Tpm1 A G 9: 67,029,716 (GRCm38) Y267H probably benign Het
Txndc2 G T 17: 65,639,024 (GRCm38) P53T unknown Het
Ugt2b36 A T 5: 87,081,017 (GRCm38) I389N probably damaging Het
Virma C T 4: 11,513,507 (GRCm38) R454* probably null Het
Vwa3b T A 1: 37,035,801 (GRCm38) H16Q probably damaging Het
Zbp1 A G 2: 173,210,643 (GRCm38) M240T possibly damaging Het
Other mutations in Scfd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Scfd1 APN 12 51,427,869 (GRCm38) missense probably benign 0.01
IGL00640:Scfd1 APN 12 51,389,315 (GRCm38) missense probably benign 0.12
IGL01481:Scfd1 APN 12 51,384,120 (GRCm38) missense probably damaging 0.99
IGL01585:Scfd1 APN 12 51,415,553 (GRCm38) missense probably damaging 1.00
IGL01862:Scfd1 APN 12 51,445,711 (GRCm38) missense probably damaging 1.00
IGL02000:Scfd1 APN 12 51,414,117 (GRCm38) missense probably benign 0.03
IGL02226:Scfd1 APN 12 51,389,381 (GRCm38) splice site probably benign
IGL02327:Scfd1 APN 12 51,389,317 (GRCm38) missense possibly damaging 0.81
IGL02503:Scfd1 APN 12 51,422,921 (GRCm38) missense possibly damaging 0.90
IGL02585:Scfd1 APN 12 51,387,107 (GRCm38) missense probably damaging 0.97
IGL02732:Scfd1 APN 12 51,422,973 (GRCm38) missense probably benign 0.01
R0671:Scfd1 UTSW 12 51,412,628 (GRCm38) missense probably benign 0.01
R0707:Scfd1 UTSW 12 51,412,577 (GRCm38) missense probably damaging 0.98
R1467:Scfd1 UTSW 12 51,431,498 (GRCm38) missense possibly damaging 0.49
R1467:Scfd1 UTSW 12 51,431,498 (GRCm38) missense possibly damaging 0.49
R1962:Scfd1 UTSW 12 51,422,986 (GRCm38) missense probably benign 0.00
R2173:Scfd1 UTSW 12 51,387,079 (GRCm38) missense probably benign 0.22
R2249:Scfd1 UTSW 12 51,415,516 (GRCm38) missense possibly damaging 0.48
R3872:Scfd1 UTSW 12 51,392,196 (GRCm38) missense probably damaging 0.98
R4080:Scfd1 UTSW 12 51,431,519 (GRCm38) missense probably benign
R4356:Scfd1 UTSW 12 51,439,285 (GRCm38) missense probably benign 0.00
R4841:Scfd1 UTSW 12 51,389,326 (GRCm38) missense probably damaging 0.96
R4842:Scfd1 UTSW 12 51,389,326 (GRCm38) missense probably damaging 0.96
R4909:Scfd1 UTSW 12 51,390,412 (GRCm38) missense probably benign 0.00
R5004:Scfd1 UTSW 12 51,444,994 (GRCm38) missense probably benign 0.03
R5275:Scfd1 UTSW 12 51,415,589 (GRCm38) missense probably benign 0.19
R5494:Scfd1 UTSW 12 51,396,739 (GRCm38) splice site probably null
R5779:Scfd1 UTSW 12 51,431,529 (GRCm38) missense probably benign
R6000:Scfd1 UTSW 12 51,445,674 (GRCm38) missense possibly damaging 0.55
R6017:Scfd1 UTSW 12 51,445,678 (GRCm38) missense probably damaging 1.00
R6522:Scfd1 UTSW 12 51,431,541 (GRCm38) missense probably benign 0.04
R6954:Scfd1 UTSW 12 51,427,946 (GRCm38) critical splice donor site probably null
R7748:Scfd1 UTSW 12 51,389,357 (GRCm38) missense probably benign 0.21
R7993:Scfd1 UTSW 12 51,445,707 (GRCm38) missense probably damaging 1.00
R8122:Scfd1 UTSW 12 51,433,269 (GRCm38) missense possibly damaging 0.95
R8353:Scfd1 UTSW 12 51,412,591 (GRCm38) missense possibly damaging 0.91
R8453:Scfd1 UTSW 12 51,412,591 (GRCm38) missense possibly damaging 0.91
R8890:Scfd1 UTSW 12 51,427,895 (GRCm38) missense probably benign
R9284:Scfd1 UTSW 12 51,392,241 (GRCm38) missense probably benign 0.00
RF007:Scfd1 UTSW 12 51,422,973 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCAGTTAGTTGATGCTTTCCTCATATG -3'
(R):5'- ACCCCTCTATATTCAGACAGGTTAG -3'

Sequencing Primer
(F):5'- GATGCTTTCCTCATATGTTGTTCATG -3'
(R):5'- CACATATCTTTAGCACTTGGGAGGC -3'
Posted On 2022-03-25