Incidental Mutation 'IGL01700:Diexf'
ID104442
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Diexf
Ensembl Gene ENSMUSG00000016181
Gene Namedigestive organ expansion factor homolog (zebrafish)
SynonymsAA408296
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #IGL01700
Quality Score
Status
Chromosome1
Chromosomal Location193091104-193130272 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 193118265 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 416 (P416S)
Ref Sequence ENSEMBL: ENSMUSP00000141676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085555] [ENSMUST00000193460] [ENSMUST00000195291] [ENSMUST00000195848]
Predicted Effect probably damaging
Transcript: ENSMUST00000085555
AA Change: P416S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082691
Gene: ENSMUSG00000016181
AA Change: P416S

DomainStartEndE-ValueType
low complexity region 51 70 N/A INTRINSIC
coiled coil region 72 113 N/A INTRINSIC
low complexity region 123 139 N/A INTRINSIC
low complexity region 217 224 N/A INTRINSIC
Pfam:UTP25 288 763 6.1e-200 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193070
Predicted Effect probably benign
Transcript: ENSMUST00000193460
SMART Domains Protein: ENSMUSP00000142059
Gene: ENSMUSG00000016181

DomainStartEndE-ValueType
Pfam:DUF1253 1 205 6.8e-78 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194335
Predicted Effect probably benign
Transcript: ENSMUST00000194412
Predicted Effect probably damaging
Transcript: ENSMUST00000195291
AA Change: P416S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141676
Gene: ENSMUSG00000016181
AA Change: P416S

DomainStartEndE-ValueType
low complexity region 51 70 N/A INTRINSIC
coiled coil region 72 113 N/A INTRINSIC
low complexity region 123 139 N/A INTRINSIC
low complexity region 217 224 N/A INTRINSIC
Pfam:DUF1253 325 634 6.9e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195848
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,280,390 M1778L probably benign Het
Aldh6a1 C T 12: 84,439,538 C202Y probably damaging Het
Ankrd36 A G 11: 5,632,198 T276A probably benign Het
Ankrd55 T C 13: 112,381,168 I556T probably benign Het
Aqp4 A G 18: 15,399,865 I57T probably benign Het
Atp1a1 T C 3: 101,594,258 D43G possibly damaging Het
Cyld G A 8: 88,707,099 R172H probably damaging Het
Ear2 A T 14: 44,103,259 R125* probably null Het
Efcab9 T C 11: 32,527,451 R24G probably damaging Het
F7 C A 8: 13,028,685 Q39K probably benign Het
Galntl6 A T 8: 57,958,460 probably benign Het
Kcnj5 A G 9: 32,322,629 V130A probably damaging Het
Magee2 A G X: 104,855,968 I359T possibly damaging Het
Myh1 T G 11: 67,211,412 I843S probably damaging Het
Nfat5 T A 8: 107,339,130 M98K probably damaging Het
Nrip3 T A 7: 109,761,867 N200I possibly damaging Het
Olfr818 A T 10: 129,945,941 N40K probably damaging Het
Phkb A T 8: 86,017,465 Q581L probably benign Het
Plxdc2 T C 2: 16,512,115 V69A probably benign Het
Pou3f1 G T 4: 124,658,857 W384L probably damaging Het
Prrc2a G A 17: 35,150,667 S1890L possibly damaging Het
Psmc1 C A 12: 100,113,078 P27H probably damaging Het
Pvr C A 7: 19,909,232 A359S probably benign Het
Rasal1 A T 5: 120,676,817 I711F probably benign Het
Ror1 C T 4: 100,409,771 A223V probably damaging Het
Slc22a16 A T 10: 40,603,908 I638L unknown Het
Slfn10-ps C T 11: 83,029,112 noncoding transcript Het
Sptbn4 A G 7: 27,404,268 L1176P probably damaging Het
Usp21 A T 1: 171,283,402 F421I probably damaging Het
Vmn1r61 T A 7: 5,611,203 R37S possibly damaging Het
Vps13a G A 19: 16,744,857 R364* probably null Het
Vps29 A G 5: 122,362,867 Y165C probably damaging Het
Wdfy4 T C 14: 33,020,238 probably benign Het
Wdr24 A G 17: 25,825,828 D219G probably damaging Het
Xpo1 T C 11: 23,276,422 probably benign Het
Zfp831 C A 2: 174,644,918 T462K possibly damaging Het
Zswim5 T C 4: 116,986,461 probably benign Het
Other mutations in Diexf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Diexf APN 1 193115001 missense probably damaging 1.00
IGL02076:Diexf APN 1 193130059 missense probably damaging 1.00
IGL02121:Diexf APN 1 193118278 missense probably benign 0.05
IGL02666:Diexf APN 1 193107596 nonsense probably null
IGL02997:Diexf APN 1 193120584 missense probably benign 0.34
3-1:Diexf UTSW 1 193118280 missense probably benign 0.07
R0099:Diexf UTSW 1 193128470 missense probably damaging 1.00
R0395:Diexf UTSW 1 193123676 missense possibly damaging 0.69
R0502:Diexf UTSW 1 193114828 splice site probably benign
R0973:Diexf UTSW 1 193114703 missense probably damaging 0.98
R0973:Diexf UTSW 1 193114703 missense probably damaging 0.98
R0974:Diexf UTSW 1 193114703 missense probably damaging 0.98
R1815:Diexf UTSW 1 193118283 missense probably benign 0.26
R1930:Diexf UTSW 1 193118309 missense probably damaging 1.00
R1931:Diexf UTSW 1 193118309 missense probably damaging 1.00
R1937:Diexf UTSW 1 193122093 missense probably damaging 1.00
R2847:Diexf UTSW 1 193128451 missense probably benign 0.41
R2848:Diexf UTSW 1 193128451 missense probably benign 0.41
R3412:Diexf UTSW 1 193128502 missense possibly damaging 0.93
R3414:Diexf UTSW 1 193128502 missense possibly damaging 0.93
R4471:Diexf UTSW 1 193130137 missense possibly damaging 0.68
R4627:Diexf UTSW 1 193107695 missense probably benign 0.00
R4644:Diexf UTSW 1 193128480 missense probably damaging 1.00
R4761:Diexf UTSW 1 193113922 missense probably damaging 1.00
R4791:Diexf UTSW 1 193128267 missense probably benign
R4793:Diexf UTSW 1 193113808 missense probably null 0.56
R4858:Diexf UTSW 1 193113764 missense probably damaging 1.00
R4944:Diexf UTSW 1 193114954 missense probably damaging 1.00
R5162:Diexf UTSW 1 193113781 missense probably damaging 1.00
R5347:Diexf UTSW 1 193128379 missense probably benign
R5837:Diexf UTSW 1 193118393 missense probably damaging 1.00
R6113:Diexf UTSW 1 193129502 missense probably null 0.01
R6455:Diexf UTSW 1 193128376 missense probably benign 0.07
R6563:Diexf UTSW 1 193118390 missense probably damaging 1.00
R6636:Diexf UTSW 1 193113767 missense probably damaging 1.00
R7018:Diexf UTSW 1 193114855 missense probably benign 0.06
R7037:Diexf UTSW 1 193120723 splice site probably null
R8027:Diexf UTSW 1 193118222 missense probably benign
R8042:Diexf UTSW 1 193114672 missense
R8092:Diexf UTSW 1 193120363 missense probably benign 0.00
R8243:Diexf UTSW 1 193114629 missense probably benign
RF021:Diexf UTSW 1 193120666 missense probably benign
X0050:Diexf UTSW 1 193123732 missense probably benign 0.23
Z1177:Diexf UTSW 1 193114675 missense probably damaging 1.00
Posted On2014-01-21