Incidental Mutation 'IGL02585:Scfd1'
ID 299501
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 # IGL02585
Quality Score
Status
Chromosome 12
Chromosomal Location 51424296-51496887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 51433890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 61 (E61K)
Ref Sequence ENSEMBL: ENSMUSP00000151347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021335] [ENSMUST00000219434]
AlphaFold Q8BRF7
Predicted Effect probably damaging
Transcript: ENSMUST00000021335
AA Change: E61K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: E61K

DomainStartEndE-ValueType
Pfam:Sec1 41 632 1.6e-109 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218131
Predicted Effect probably damaging
Transcript: ENSMUST00000219434
AA Change: E61K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219799
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,592,121 (GRCm39) I603T possibly damaging Het
Aebp1 A G 11: 5,820,855 (GRCm39) probably null Het
Atp5me T C 5: 108,581,936 (GRCm39) Y16C probably damaging Het
Ccdc122 A T 14: 77,330,202 (GRCm39) probably benign Het
Ccdc83 C T 7: 89,886,120 (GRCm39) R213Q probably damaging Het
Cd38 G A 5: 44,067,644 (GRCm39) V292M probably damaging Het
Eps8l1 T C 7: 4,472,212 (GRCm39) S26P probably damaging Het
Gdpd1 A T 11: 86,964,802 (GRCm39) M1K probably null Het
Inmt T A 6: 55,150,431 (GRCm39) I69F probably damaging Het
Lrrc19 A T 4: 94,531,562 (GRCm39) S17T probably benign Het
Macf1 G T 4: 123,366,077 (GRCm39) Q1330K probably benign Het
Map4k3 C A 17: 80,961,348 (GRCm39) probably benign Het
Musk A G 4: 58,347,849 (GRCm39) T329A probably benign Het
Nhs T C X: 160,624,760 (GRCm39) E863G probably damaging Het
Nts T A 10: 102,318,329 (GRCm39) I125F probably benign Het
Odr4 T A 1: 150,239,272 (GRCm39) T384S probably damaging Het
Phip G A 9: 82,785,241 (GRCm39) L825F probably benign Het
Prr14l T C 5: 32,986,828 (GRCm39) H889R possibly damaging Het
Rbm15b T C 9: 106,763,025 (GRCm39) Q381R probably benign Het
Rtn1 C A 12: 72,354,929 (GRCm39) probably null Het
Ryr3 A G 2: 112,542,648 (GRCm39) L3167P probably damaging Het
Sgce A G 6: 4,711,388 (GRCm39) probably benign Het
Slc17a6 T A 7: 51,275,097 (GRCm39) V52E probably benign Het
Slc38a11 T C 2: 65,166,135 (GRCm39) D212G probably benign Het
Snx14 T C 9: 88,286,571 (GRCm39) K356R possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssc4d A G 5: 135,999,192 (GRCm39) S4P possibly damaging Het
Tas2r119 A G 15: 32,177,679 (GRCm39) T82A probably benign Het
Ush2a A T 1: 188,460,530 (GRCm39) Q2597L probably benign Het
Uspl1 C T 5: 149,150,872 (GRCm39) Q691* probably null Het
Ythdf3 T C 3: 16,243,642 (GRCm39) V17A probably benign Het
Zscan29 T A 2: 120,994,357 (GRCm39) R543* 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
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
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