Incidental Mutation 'IGL02226:Scfd1'
ID 285364
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 # IGL02226
Quality Score
Status
Chromosome 12
Chromosomal Location 51424296-51496887 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 51436164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021335] [ENSMUST00000219434]
AlphaFold Q8BRF7
Predicted Effect probably benign
Transcript: ENSMUST00000021335
SMART Domains Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952

DomainStartEndE-ValueType
Pfam:Sec1 41 632 1.6e-109 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218131
Predicted Effect probably benign
Transcript: ENSMUST00000219434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219799
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T C 12: 53,057,250 (GRCm39) probably benign Het
Ankrd11 G A 8: 123,618,984 (GRCm39) R1602W probably damaging Het
Arhgap23 G T 11: 97,342,426 (GRCm39) R236L probably benign Het
Aurkaip1 T C 4: 155,917,028 (GRCm39) V92A probably benign Het
Cdh20 A T 1: 104,881,816 (GRCm39) probably benign Het
Ctnnd2 A G 15: 30,847,482 (GRCm39) N691S probably benign Het
Ddx24 A C 12: 103,390,717 (GRCm39) D2E possibly damaging Het
Dennd5b A G 6: 148,934,799 (GRCm39) S691P probably benign Het
Dhrs3 C T 4: 144,650,519 (GRCm39) R248W possibly damaging Het
Dlgap1 T C 17: 70,823,029 (GRCm39) S5P probably damaging Het
Dnai4 A T 4: 102,947,595 (GRCm39) I227K probably benign Het
Ep300 A T 15: 81,497,613 (GRCm39) M510L unknown Het
Fbxo25 T C 8: 13,973,922 (GRCm39) probably benign Het
Gm3252 A T 14: 4,743,741 (GRCm38) K193M possibly damaging Het
Gtf3c1 T C 7: 125,267,162 (GRCm39) probably null Het
Helz2 T C 2: 180,873,483 (GRCm39) D2337G probably damaging Het
Idh1 A T 1: 65,201,081 (GRCm39) M290K probably damaging Het
Layn T C 9: 50,985,317 (GRCm39) S80G probably damaging Het
Ltbp4 C T 7: 27,006,359 (GRCm39) E1440K probably damaging Het
Mri1 T C 8: 84,982,924 (GRCm39) T166A probably damaging Het
Myod1 C T 7: 46,027,730 (GRCm39) T290I probably benign Het
Nfat5 T A 8: 108,078,154 (GRCm39) L431* probably null Het
Nle1 A T 11: 82,795,133 (GRCm39) Y299* probably null Het
Nlrp4c T A 7: 6,069,828 (GRCm39) F576L possibly damaging Het
Nudt21 G T 8: 94,746,329 (GRCm39) S123* probably null Het
Plekhg1 A C 10: 3,895,916 (GRCm39) D436A probably damaging Het
Plxna2 T C 1: 194,326,732 (GRCm39) V222A probably damaging Het
Ppp4r3c1 A C X: 88,975,518 (GRCm39) D226E probably damaging Het
Rbm14 A G 19: 4,851,745 (GRCm39) probably benign Het
Slc34a2 A G 5: 53,225,073 (GRCm39) T405A probably benign Het
Slc39a9 T A 12: 80,691,695 (GRCm39) M14K probably damaging Het
Slc39a9 G A 12: 80,691,696 (GRCm39) M14I probably damaging Het
Spast G A 17: 74,679,334 (GRCm39) probably benign Het
Spen T C 4: 141,205,457 (GRCm39) R1057G unknown Het
Sptbn4 T G 7: 27,065,132 (GRCm39) T2056P probably damaging Het
Ssrp1 T C 2: 84,870,705 (GRCm39) L148P probably damaging Het
Tdrd6 T A 17: 43,938,093 (GRCm39) H985L probably damaging Het
Tmem44 A G 16: 30,358,199 (GRCm39) probably benign Het
Vmn2r116 T A 17: 23,603,808 (GRCm39) L11Q probably null 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
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
RF007:Scfd1 UTSW 12 51,469,756 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16