Incidental Mutation 'RF007:Scfd1'
ID 602923
Institutional Source Beutler Lab
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 # RF007 (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 51469756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 434 (S434T)
Ref Sequence ENSEMBL: ENSMUSP00000021335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021335]
AlphaFold Q8BRF7
Predicted Effect probably benign
Transcript: ENSMUST00000021335
AA Change: S434T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: S434T

DomainStartEndE-ValueType
Pfam:Sec1 41 632 1.6e-109 PFAM
Predicted Effect
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.2%
Validation Efficiency 97% (73/75)
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T A 8: 84,661,401 (GRCm39) S933T probably benign Het
Adgrl2 G A 3: 148,544,884 (GRCm39) T737I probably damaging Het
Adra2c T A 5: 35,438,386 (GRCm39) V386E probably damaging Het
Agbl5 C A 5: 31,060,589 (GRCm39) T761N unknown Het
Ahnak T A 19: 8,990,965 (GRCm39) M4083K possibly damaging Het
Aldh1l1 A T 6: 90,575,241 (GRCm39) I843F probably damaging Het
Ankhd1 GGCGGC GGCGGCTGCGGC 18: 36,693,962 (GRCm39) probably benign Het
Arid1b GCG GCGCCG 17: 5,045,869 (GRCm39) probably benign Het
B4galnt4 T C 7: 140,650,609 (GRCm39) probably null Het
Blm C CTCCTCCTCCTAG 7: 80,162,681 (GRCm39) probably null Het
Btg3 A G 16: 78,129,836 (GRCm39) *52W probably null Het
Cc2d1a T C 8: 84,861,298 (GRCm39) T796A probably damaging Het
Cd200r1 T C 16: 44,610,374 (GRCm39) S161P possibly damaging Het
Cenpj A G 14: 56,767,505 (GRCm39) probably null Het
Cfap251 G GGAT 5: 123,392,317 (GRCm39) probably benign Het
Chd9 A G 8: 91,760,578 (GRCm39) T2108A possibly damaging Het
Cherp TGGAGCG T 8: 73,215,903 (GRCm39) probably benign Het
Cnot11 T C 1: 39,581,575 (GRCm39) V372A probably damaging Het
Cntnap5b T C 1: 100,091,795 (GRCm39) C179R probably damaging Het
Cntrl T A 2: 35,060,512 (GRCm39) N1901K probably benign Het
Coil CTGG C 11: 88,872,656 (GRCm39) probably benign Het
Col1a1 A G 11: 94,833,866 (GRCm39) D488G probably damaging Het
Coro1a T C 7: 126,301,024 (GRCm39) H130R probably damaging Het
Crybg3 A C 16: 59,377,067 (GRCm39) S1396A possibly damaging Het
Csf2rb2 A G 15: 78,176,126 (GRCm39) I259T probably benign Het
Cyp1a2 G T 9: 57,589,253 (GRCm39) P187Q probably damaging Het
Cyp3a13 CATTATT CATT 5: 137,892,525 (GRCm39) probably null Het
Dcun1d3 T C 7: 119,458,726 (GRCm39) E103G possibly damaging Het
Dmkn T A 7: 30,469,129 (GRCm39) probably null Het
Dna2 T C 10: 62,802,474 (GRCm39) L864P probably damaging Het
Dnah14 T A 1: 181,513,374 (GRCm39) M1909K probably benign Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Ecrg4 TTCTGTA T 1: 43,776,352 (GRCm39) probably benign Het
Efna5 T C 17: 62,920,389 (GRCm39) S163G probably benign Het
Entpd2 CTT CTTT 2: 25,290,907 (GRCm39) probably null Het
Ercc4 C T 16: 12,941,371 (GRCm39) S253L possibly damaging Het
Flywch1 ACCCA ACCCAATTCTGGTGTGGGGAGGCTACGTACTCTCCCA 17: 23,981,138 (GRCm39) probably null Het
Flywch1 CCTGGTGT CCTGGTGTGGGGAGGCTACGTACTCACCCACTTCTGGTGT 17: 23,981,145 (GRCm39) probably null Het
Folh1 T C 7: 86,424,895 (GRCm39) T25A probably benign Het
Foxi3 C A 6: 70,937,845 (GRCm39) T359K possibly damaging Het
Gab3 TTC TTCATC X: 74,043,631 (GRCm39) probably benign Het
Gab3 TCT TCTGCT X: 74,043,602 (GRCm39) probably benign Het
Gab3 TCT TCTGCT X: 74,043,617 (GRCm39) probably benign Het
Gba2 G T 4: 43,569,894 (GRCm39) L440M probably damaging Het
Gm14412 T A 2: 177,007,494 (GRCm39) N134Y possibly damaging Het
Gpr88 A G 3: 116,046,018 (GRCm39) S98P probably benign Het
Il1r1 A G 1: 40,352,438 (GRCm39) Y539C probably damaging Het
Iqcf4 TTTCCTTTTCCTTTT TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTCTTCCTTTTCCTTTT 9: 106,447,808 (GRCm39) probably benign Het
Lce1m CTGCT CTGCTTCCACTGTTGCT 3: 92,925,451 (GRCm39) probably benign Het
Lkaaear1 T TATCTCCAGCTCC 2: 181,339,352 (GRCm39) probably benign Het
Lkaaear1 CAGCTCCAGCTCCAGCTCCAGCTC CAGCTCCAGCTCTAGCTCCAGCTCCAGCTCCAGCTC 2: 181,339,370 (GRCm39) probably benign Het
Ltb4r1 T A 14: 56,005,426 (GRCm39) L243Q possibly damaging Het
Man2a1 T A 17: 65,019,248 (GRCm39) V704D probably damaging Het
Map1a CTCCAGCTCCA CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGTTCCAGCTCCA 2: 121,136,789 (GRCm39) probably benign Het
Mcu G T 10: 59,326,938 (GRCm39) A63E probably benign Het
Mrps31 A T 8: 22,909,880 (GRCm39) D182V possibly damaging Het
Mslnl T A 17: 25,962,202 (GRCm39) V200E possibly damaging Het
Naip1 A T 13: 100,562,642 (GRCm39) M841K probably benign Het
Ndufab1 T C 7: 121,695,861 (GRCm39) K88E possibly damaging Het
Nlrp5 A C 7: 23,117,586 (GRCm39) I437L probably benign Het
Nnt C T 13: 119,533,393 (GRCm39) V91M probably damaging Het
Nusap1 TACACGTTAGCAGTGAGGAGCAAGCTGAGA TACACGTTAGCAGTGAGGAGCAAGCTGAGAGACACGTTAGCAGTGAGGAGCAAGCTGAGA 2: 119,458,062 (GRCm39) probably benign Het
Nynrin T G 14: 56,103,658 (GRCm39) probably null Het
Or12k5 T G 2: 36,895,186 (GRCm39) T147P probably damaging Het
Or5ak22 C A 2: 85,230,137 (GRCm39) A247S probably damaging Het
Or6c204 T A 10: 129,022,562 (GRCm39) I243F probably damaging Het
Osbpl8 A G 10: 111,112,328 (GRCm39) K481R possibly damaging Het
Padi6 T C 4: 140,457,054 (GRCm39) D540G probably damaging Het
Pcmtd1 T C 1: 7,225,329 (GRCm39) probably benign Het
Pdik1l TTTTTGTTTT TTTTTGTTTTGGTTTTGTTTT 4: 134,006,679 (GRCm39) probably null Het
Phospho1 T C 11: 95,721,881 (GRCm39) Y184H probably damaging Het
Pi4ka T A 16: 17,115,097 (GRCm39) R1431W Het
Plxdc1 T A 11: 97,869,504 (GRCm39) H28L probably benign Het
Pnma8a ACCTCATGATGCACCTGCTTCAACA ACCTCATGATGCACCTGCTTCAACACCTCATGATGCACCTGCTTCAACA 7: 16,695,349 (GRCm39) probably benign Het
Ppp1r7 T C 1: 93,274,011 (GRCm39) probably null Het
Ppp1r9a T A 6: 4,906,657 (GRCm39) V404E probably damaging Het
Six5 A G 7: 18,828,862 (GRCm39) S101G probably benign Het
Slc6a4 C A 11: 76,910,008 (GRCm39) T421K probably damaging Het
Smarcd3 C A 5: 24,801,068 (GRCm39) R113L probably damaging Het
Son T A 16: 91,456,257 (GRCm39) M1668K possibly damaging Het
Spmap2l CTCCCCAGTCCCGCAAGGCCAG CTCCCCAGTCCCGCAAGGCCAGCGATCGTCCCCAGTCCCGCAAGGCCAG 5: 77,164,255 (GRCm39) probably benign Het
Tcf25 A G 8: 124,122,369 (GRCm39) D434G probably benign Het
Tcof1 CCAGAGATCCCC CCAGAGATCCCCGTGGCTGCCGAGATGGGCACTTTCACAGAGATCCCC 18: 60,966,640 (GRCm39) probably benign Het
Tep1 A G 14: 51,098,402 (GRCm39) V463A possibly damaging Het
Trav15-2-dv6-2 GGGAG GGGAGGAG 14: 53,887,207 (GRCm39) probably benign Het
Trav15-2-dv6-2 AAG AAGCAG 14: 53,887,212 (GRCm39) probably benign Het
Trav15-2-dv6-2 GGAG GGAGGAG 14: 53,887,208 (GRCm39) probably benign Het
Trim24 A G 6: 37,930,471 (GRCm39) K642E possibly damaging Het
Trim33 GGCCCCCGC GGC 3: 103,187,533 (GRCm39) probably benign Het
Triobp CTCCCTGTGCCCAACGG CTCCCTGTGCCCAACGGAACAACCCCAGGATTCCCTGTGCCCAACGG 15: 78,851,244 (GRCm39) probably benign Het
Trmu G T 15: 85,776,770 (GRCm39) V161L possibly damaging Het
Try4 T A 6: 41,282,297 (GRCm39) C206S probably damaging Het
Usp2 TTCACTTAC TTCACTTACTCATGTGACCTGTTCGTCACTTAC 9: 44,000,418 (GRCm39) probably benign Het
Vmn1r62 A T 7: 5,678,669 (GRCm39) M117L probably benign Het
Vmn2r104 A T 17: 20,268,302 (GRCm39) Y56N probably benign Het
Xxylt1 C T 16: 30,869,498 (GRCm39) D201N possibly damaging Het
Zfp563 T A 17: 33,323,999 (GRCm39) I198K probably benign Het
Zfp612 T A 8: 110,816,174 (GRCm39) C460* probably null Het
Zfp691 G A 4: 119,027,932 (GRCm39) T100M probably benign Het
Zfp773 A T 7: 7,135,689 (GRCm39) C302* probably null Het
Zmat2 A G 18: 36,930,936 (GRCm39) E154G probably damaging Het
Zw10 T A 9: 48,972,220 (GRCm39) I132N possibly 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
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
Predicted Primers PCR Primer
(F):5'- ACTCTCTGTAAATAAACATACATTGGC -3'
(R):5'- ATTTAAACACACGACCAAAGGGG -3'

Sequencing Primer
(F):5'- GTGTTTATTTCGAAACAGGCA -3'
(R):5'- CGACCAAAGGGGGAAAATCATTTTC -3'
Posted On 2019-12-04