Incidental Mutation 'IGL02732:Scfd1'
ID305496
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scfd1
Ensembl Gene ENSMUSG00000020952
Gene NameSec1 family domain containing 1
Synonyms3110021P21Rik, RA410, STXBP1L2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.953) question?
Stock #IGL02732
Quality Score
Status
Chromosome12
Chromosomal Location51377510-51450101 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 51422973 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 434 (S434P)
Ref Sequence ENSEMBL: ENSMUSP00000021335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021335]
Predicted Effect probably benign
Transcript: ENSMUST00000021335
AA Change: S434P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: S434P

DomainStartEndE-ValueType
Pfam:Sec1 41 632 1.6e-109 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000218138
AA Change: S15P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219686
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007K13Rik T C 2: 28,465,180 N91S probably damaging Het
2410089E03Rik A G 15: 8,179,891 T271A probably benign Het
9230110F15Rik C T 9: 35,839,049 G109D probably damaging Het
Apoo-ps C A 13: 107,414,623 noncoding transcript Het
Ash1l T A 3: 88,966,228 V106E probably damaging Het
Baz2a A G 10: 128,125,175 T1618A possibly damaging Het
Brca1 A G 11: 101,492,219 S1732P probably benign Het
Cdh1 T A 8: 106,666,323 I813N probably damaging Het
Cdk5rap2 G A 4: 70,266,665 R1183* probably null Het
Cep170 C T 1: 176,736,874 E1479K probably damaging Het
Cep68 A T 11: 20,236,109 probably benign Het
Cog7 C T 7: 121,923,367 V750I probably benign Het
Cyb5d1 A C 11: 69,393,809 probably null Het
Dlgap4 A G 2: 156,749,323 K120E probably benign Het
Dmtf1 T C 5: 9,136,098 I75V possibly damaging Het
Fam103a1 T C 7: 81,767,725 probably null Het
Fam208b A G 13: 3,573,626 V2108A probably benign Het
Fnip2 T C 3: 79,465,697 T995A probably damaging Het
Hecw2 G A 1: 53,926,688 probably benign Het
Il17rd T A 14: 27,087,419 F111I probably damaging Het
Itgb8 A C 12: 119,163,353 M722R probably benign Het
Maip1 A G 1: 57,409,955 D165G probably damaging Het
Mcm6 A T 1: 128,359,490 C26S probably benign Het
Mdp1 T C 14: 55,659,221 I128V possibly damaging Het
Myof A T 19: 37,977,716 F385L possibly damaging Het
Nebl C T 2: 17,452,484 probably benign Het
Nusap1 A G 2: 119,635,580 E227G probably damaging Het
Olfr142 A G 2: 90,252,308 S227P probably damaging Het
Olfr594 A C 7: 103,220,240 N174T probably benign Het
Olfr631 T G 7: 103,929,129 M102R probably damaging Het
Pamr1 A T 2: 102,642,141 H595L probably benign Het
Pdgfc G A 3: 81,037,557 probably benign Het
Ptpn22 A T 3: 103,886,033 E500V probably damaging Het
Ptprg G T 14: 12,225,617 probably null Het
R3hdm2 T C 10: 127,484,060 F513L probably benign Het
Rhobtb3 C A 13: 75,910,937 L247F probably damaging Het
Serpinb3d T A 1: 107,082,796 probably null Het
Sin3b T C 8: 72,733,453 F223L possibly damaging Het
Slc9c1 T C 16: 45,550,185 V263A possibly damaging Het
Sntb1 A G 15: 55,792,200 S207P possibly damaging Het
Sqor A T 2: 122,799,762 T1S possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssh2 A G 11: 77,437,776 probably null Het
Tmod2 A G 9: 75,586,172 V167A possibly damaging Het
Trak2 G A 1: 58,910,063 T526M probably benign Het
Trdn G A 10: 33,468,199 probably null Het
Trim5 T A 7: 104,278,465 E156V probably benign Het
Twf1 A G 15: 94,581,009 S273P probably damaging Het
Xylt1 T C 7: 117,591,937 V320A possibly damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Scfd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Scfd1 APN 12 51427869 missense probably benign 0.01
IGL00640:Scfd1 APN 12 51389315 missense probably benign 0.12
IGL01481:Scfd1 APN 12 51384120 missense probably damaging 0.99
IGL01585:Scfd1 APN 12 51415553 missense probably damaging 1.00
IGL01862:Scfd1 APN 12 51445711 missense probably damaging 1.00
IGL02000:Scfd1 APN 12 51414117 missense probably benign 0.03
IGL02226:Scfd1 APN 12 51389381 splice site probably benign
IGL02327:Scfd1 APN 12 51389317 missense possibly damaging 0.81
IGL02503:Scfd1 APN 12 51422921 missense possibly damaging 0.90
IGL02585:Scfd1 APN 12 51387107 missense probably damaging 0.97
R0671:Scfd1 UTSW 12 51412628 missense probably benign 0.01
R0707:Scfd1 UTSW 12 51412577 missense probably damaging 0.98
R1467:Scfd1 UTSW 12 51431498 missense possibly damaging 0.49
R1467:Scfd1 UTSW 12 51431498 missense possibly damaging 0.49
R1962:Scfd1 UTSW 12 51422986 missense probably benign 0.00
R2173:Scfd1 UTSW 12 51387079 missense probably benign 0.22
R2249:Scfd1 UTSW 12 51415516 missense possibly damaging 0.48
R3872:Scfd1 UTSW 12 51392196 missense probably damaging 0.98
R4080:Scfd1 UTSW 12 51431519 missense probably benign
R4356:Scfd1 UTSW 12 51439285 missense probably benign 0.00
R4841:Scfd1 UTSW 12 51389326 missense probably damaging 0.96
R4842:Scfd1 UTSW 12 51389326 missense probably damaging 0.96
R4909:Scfd1 UTSW 12 51390412 missense probably benign 0.00
R5004:Scfd1 UTSW 12 51444994 missense probably benign 0.03
R5275:Scfd1 UTSW 12 51415589 missense probably benign 0.19
R5494:Scfd1 UTSW 12 51396739 splice site probably null
R5779:Scfd1 UTSW 12 51431529 missense probably benign
R6000:Scfd1 UTSW 12 51445674 missense possibly damaging 0.55
R6017:Scfd1 UTSW 12 51445678 missense probably damaging 1.00
R6522:Scfd1 UTSW 12 51431541 missense probably benign 0.04
R6954:Scfd1 UTSW 12 51427946 critical splice donor site probably null
R7748:Scfd1 UTSW 12 51389357 missense probably benign 0.21
R7993:Scfd1 UTSW 12 51445707 missense probably damaging 1.00
R8122:Scfd1 UTSW 12 51433269 missense possibly damaging 0.95
R8353:Scfd1 UTSW 12 51412591 missense possibly damaging 0.91
R8453:Scfd1 UTSW 12 51412591 missense possibly damaging 0.91
RF007:Scfd1 UTSW 12 51422973 missense probably benign 0.00
Posted On2015-04-16