Incidental Mutation 'IGL02000:Scfd1'
ID 183005
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 # IGL02000
Quality Score
Status
Chromosome 12
Chromosomal Location 51424296-51496887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51460900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 337 (S337T)
Ref Sequence ENSEMBL: ENSMUSP00000151347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021335] [ENSMUST00000219434]
AlphaFold Q8BRF7
Predicted Effect probably benign
Transcript: ENSMUST00000021335
AA Change: S337T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: S337T

DomainStartEndE-ValueType
Pfam:Sec1 41 632 1.6e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219434
AA Change: S337T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid5a T C 1: 36,358,578 (GRCm39) F450S probably damaging Het
Astn1 C T 1: 158,502,184 (GRCm39) R1133C probably damaging Het
Cd101 G A 3: 100,919,398 (GRCm39) P568L probably benign Het
Cdkl4 T C 17: 80,851,192 (GRCm39) E170G probably damaging Het
Chit1 A G 1: 134,074,413 (GRCm39) E240G probably benign Het
Duox2 T C 2: 122,121,190 (GRCm39) T741A probably benign Het
Eef2 T C 10: 81,015,845 (GRCm39) V427A probably benign Het
Ewsr1 T C 11: 5,038,077 (GRCm39) D105G probably damaging Het
Ftsj3 C T 11: 106,141,233 (GRCm39) R629Q probably benign Het
Gm10406 C T 14: 18,341,703 (GRCm39) G181E probably benign Het
Ilk A G 7: 105,390,376 (GRCm39) H185R probably benign Het
Lamc1 A T 1: 153,116,179 (GRCm39) C1001S probably damaging Het
Mcidas T C 13: 113,133,974 (GRCm39) S153P probably benign Het
Mtcl1 T C 17: 66,661,185 (GRCm39) E931G probably benign Het
Myo10 C T 15: 25,808,152 (GRCm39) R1925C probably damaging Het
Notch3 A G 17: 32,341,716 (GRCm39) V2012A probably damaging Het
Or6c76 C A 10: 129,611,938 (GRCm39) H67N probably benign Het
Parp6 A G 9: 59,556,175 (GRCm39) M542V probably benign Het
Rab27a G A 9: 72,992,254 (GRCm39) G94D probably damaging Het
Ralgapb A G 2: 158,296,034 (GRCm39) probably benign Het
Rassf4 T C 6: 116,622,933 (GRCm39) E26G probably benign Het
Rnf166 C T 8: 123,193,961 (GRCm39) D221N probably damaging Het
Rptn G T 3: 93,303,735 (GRCm39) G356V probably benign Het
Rwdd2b T A 16: 87,233,828 (GRCm39) probably benign Het
Sel1l3 T A 5: 53,302,835 (GRCm39) D678V probably damaging Het
Sidt1 A T 16: 44,106,732 (GRCm39) F233I probably damaging Het
Slc12a4 T C 8: 106,671,864 (GRCm39) D917G probably damaging Het
Slc22a2 A T 17: 12,803,270 (GRCm39) I35F possibly damaging Het
Smco1 A T 16: 32,092,751 (GRCm39) T141S possibly damaging Het
Svs6 T C 2: 164,159,352 (GRCm39) probably benign Het
Syne2 C T 12: 76,062,419 (GRCm39) A4247V probably damaging Het
Tacc2 T A 7: 130,330,898 (GRCm39) probably null Het
Tgm4 A T 9: 122,885,531 (GRCm39) I358F probably damaging Het
Thnsl2 A G 6: 71,111,203 (GRCm39) S222P probably damaging Het
Tmem25 G A 9: 44,709,568 (GRCm39) R78* probably null Het
Ube2l6 T C 2: 84,639,506 (GRCm39) probably benign Het
Usp10 T A 8: 120,675,480 (GRCm39) Y63N possibly damaging Het
Vit A G 17: 78,912,915 (GRCm39) I283V possibly damaging Het
Vmn1r214 G A 13: 23,219,270 (GRCm39) V255I possibly damaging Het
Xpo1 A G 11: 23,246,003 (GRCm39) R1038G probably damaging Het
Ybx1 T A 4: 119,139,509 (GRCm39) N50I probably damaging Het
Zhx1 T C 15: 57,917,683 (GRCm39) K188E probably 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
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
RF007:Scfd1 UTSW 12 51,469,756 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07