Incidental Mutation 'R7993:Scfd1'
ID 651889
Institutional Source Beutler Lab
Gene Symbol Scfd1
Ensembl Gene ENSMUSG00000020952
Gene Name Sec1 family domain containing 1
Synonyms RA410, STXBP1L2, 3110021P21Rik
MMRRC Submission 046034-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R7993 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 51424296-51496887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 51492490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 600 (E600K)
Ref Sequence ENSEMBL: ENSMUSP00000021335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021335]
AlphaFold Q8BRF7
Predicted Effect probably damaging
Transcript: ENSMUST00000021335
AA Change: E600K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: E600K

DomainStartEndE-ValueType
Pfam:Sec1 41 632 1.6e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218138
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T A 19: 43,803,231 (GRCm39) V689D possibly damaging Het
Adamts17 T C 7: 66,499,612 (GRCm39) V53A possibly damaging Het
Adcy9 T C 16: 4,235,866 (GRCm39) N515S probably damaging Het
Aoc1l3 T A 6: 48,964,542 (GRCm39) N183K possibly damaging Het
Atp1a2 A G 1: 172,118,878 (GRCm39) V88A possibly damaging Het
Atp1a3 T C 7: 24,700,406 (GRCm39) probably null Het
Baz2a T C 10: 127,961,491 (GRCm39) F1706L probably benign Het
Cacnb2 A C 2: 14,968,731 (GRCm39) N199T probably benign Het
Caskin1 T A 17: 24,718,279 (GRCm39) Y296* probably null Het
Cemip C A 7: 83,613,383 (GRCm39) G605V probably damaging Het
Ciart T A 3: 95,786,206 (GRCm39) K290* probably null Het
Cideb G T 14: 55,995,899 (GRCm39) probably benign Het
Copg2 A T 6: 30,793,097 (GRCm39) Y413N probably damaging Het
Csrp1 T A 1: 135,674,453 (GRCm39) probably null Het
Cyp2j8 C T 4: 96,335,456 (GRCm39) probably null Het
Dcbld1 T A 10: 52,137,884 (GRCm39) Y49* probably null Het
Dpep1 T C 8: 123,927,460 (GRCm39) V338A possibly damaging Het
Exoc2 A G 13: 31,090,713 (GRCm39) probably null Het
Fcho2 A T 13: 98,888,524 (GRCm39) probably null Het
Foxd3 C T 4: 99,544,841 (GRCm39) probably benign Het
Gabbr2 C T 4: 46,736,349 (GRCm39) probably null Het
Gipc3 T C 10: 81,173,805 (GRCm39) D269G probably damaging Het
Gm4861 G A 3: 137,256,417 (GRCm39) T63M probably damaging Het
Hmga1b C A 11: 120,653,833 (GRCm39) A40E probably damaging Het
Hydin T A 8: 111,306,264 (GRCm39) M3889K probably benign Het
Inhca T A 9: 103,140,332 (GRCm39) K462N probably benign Het
Klk14 T A 7: 43,344,367 (GRCm39) M226K probably benign Het
Liph T G 16: 21,777,562 (GRCm39) M413L probably benign Het
Lrrc37a T C 11: 103,348,787 (GRCm39) D2636G unknown Het
Lrrk1 G A 7: 65,912,202 (GRCm39) T1786M probably benign Het
Map1a A G 2: 121,135,057 (GRCm39) S1958G possibly damaging Het
Msto1 A G 3: 88,817,481 (GRCm39) F484S probably benign Het
Muc2 C T 7: 141,308,173 (GRCm39) H890Y Het
Nectin3 T C 16: 46,279,184 (GRCm39) I265V probably benign Het
Nectin4 C T 1: 171,211,322 (GRCm39) T282I probably damaging Het
Nfat5 T A 8: 108,082,134 (GRCm39) probably null Het
Nsmaf T C 4: 6,398,647 (GRCm39) D819G probably benign Het
Or8b8 A T 9: 37,808,633 (GRCm39) probably benign Het
Pcdhb1 A T 18: 37,400,044 (GRCm39) D665V probably damaging Het
Pkd1l1 T C 11: 8,895,262 (GRCm39) D616G Het
Plppr2 A T 9: 21,858,258 (GRCm39) H286L probably damaging Het
Polrmt T C 10: 79,572,085 (GRCm39) T1203A probably damaging Het
Ppm1d T A 11: 85,217,777 (GRCm39) V180E probably damaging Het
Ppp1r18 T A 17: 36,184,718 (GRCm39) I551N probably benign Het
Psg28 C T 7: 18,160,401 (GRCm39) C265Y possibly damaging Het
Psmc1 A G 12: 100,081,824 (GRCm39) D142G probably benign Het
Rabgap1l G T 1: 160,528,424 (GRCm39) A394E probably damaging Het
Rbm48 G A 5: 3,640,470 (GRCm39) P303L probably benign Het
Rnf167 T C 11: 70,540,821 (GRCm39) V185A probably benign Het
Ros1 T A 10: 51,999,443 (GRCm39) Q1169L probably benign Het
Rrp1b A G 17: 32,277,541 (GRCm39) D607G probably damaging Het
Scamp1 A G 13: 94,366,294 (GRCm39) Y134H probably damaging Het
Scn3b A G 9: 40,193,840 (GRCm39) E189G possibly damaging Het
Scn4b G T 9: 45,059,007 (GRCm39) V93L probably benign Het
Serpina3i A T 12: 104,231,407 (GRCm39) T15S possibly damaging Het
Slc2a13 A T 15: 91,296,356 (GRCm39) C319* probably null Het
Tdrd1 A G 19: 56,854,437 (GRCm39) probably null Het
Tep1 T A 14: 51,067,710 (GRCm39) I2169F probably benign Het
Tm4sf19 A G 16: 32,226,458 (GRCm39) D124G possibly damaging Het
Trim2 T C 3: 84,098,026 (GRCm39) Y434C probably damaging Het
Usp34 T A 11: 23,327,622 (GRCm39) S1056T Het
Vmn1r230 T A 17: 21,067,312 (GRCm39) M167K probably benign Het
Vmn2r14 T A 5: 109,363,862 (GRCm39) M685L probably benign Het
Zfhx4 T A 3: 5,478,047 (GRCm39) V3554D probably damaging Het
Zfp1010 C T 2: 176,957,015 (GRCm39) G161D probably damaging Het
Zfp458 A G 13: 67,405,234 (GRCm39) S402P probably damaging Het
Zfp462 C A 4: 55,011,907 (GRCm39) A1291E probably damaging Het
Zmat5 G A 11: 4,672,379 (GRCm39) probably benign Het
Znfx1 C A 2: 166,897,857 (GRCm39) E356* probably null Het
Zswim5 A G 4: 116,808,291 (GRCm39) T292A 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
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
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
Predicted Primers PCR Primer
(F):5'- TGCAGTTAGACTTTGAGACAGC -3'
(R):5'- AAAGTGCATCAAGAGATTGCC -3'

Sequencing Primer
(F):5'- GCAAAAGGCTTAGATTGTAGTCTTAG -3'
(R):5'- GAATTCCTGGGCTCAAGATCC -3'
Posted On 2020-09-15