Incidental Mutation 'IGL01739:Aftph'
ID105808
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aftph
Ensembl Gene ENSMUSG00000049659
Gene Nameaftiphilin
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.750) question?
Stock #IGL01739
Quality Score
Status
Chromosome11
Chromosomal Location20685084-20741589 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20726994 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 205 (D205G)
Ref Sequence ENSEMBL: ENSMUSP00000121612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035350] [ENSMUST00000146722] [ENSMUST00000177014] [ENSMUST00000177543]
Predicted Effect probably damaging
Transcript: ENSMUST00000035350
AA Change: D205G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036778
Gene: ENSMUSG00000049659
AA Change: D205G

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
low complexity region 546 560 N/A INTRINSIC
low complexity region 618 631 N/A INTRINSIC
Pfam:Clathrin_bdg 693 765 1.1e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120008
Predicted Effect probably damaging
Transcript: ENSMUST00000146722
AA Change: D205G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121612
Gene: ENSMUSG00000049659
AA Change: D205G

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
low complexity region 546 560 N/A INTRINSIC
low complexity region 618 631 N/A INTRINSIC
Pfam:Clathrin_bdg 694 765 1.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176782
SMART Domains Protein: ENSMUSP00000134791
Gene: ENSMUSG00000049659

DomainStartEndE-ValueType
low complexity region 68 82 N/A INTRINSIC
low complexity region 140 153 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000177014
AA Change: D50G

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135450
Gene: ENSMUSG00000049659
AA Change: D50G

DomainStartEndE-ValueType
low complexity region 391 405 N/A INTRINSIC
low complexity region 463 476 N/A INTRINSIC
Pfam:Clathrin_bdg 538 610 6.8e-37 PFAM
low complexity region 664 677 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000177543
AA Change: D205G

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134991
Gene: ENSMUSG00000049659
AA Change: D205G

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
low complexity region 546 560 N/A INTRINSIC
low complexity region 618 631 N/A INTRINSIC
Pfam:Clathrin_bdg 693 765 8.7e-37 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 G T 7: 44,256,786 Y88* probably null Het
Arhgap31 T C 16: 38,603,431 I758V probably benign Het
Atg9b A G 5: 24,386,515 probably null Het
Auts2 T C 5: 131,440,218 T754A probably benign Het
Birc6 A G 17: 74,659,221 M4048V probably benign Het
Cacna1s T C 1: 136,097,132 probably null Het
Cmpk1 C T 4: 114,964,924 A143T probably benign Het
Cstf2t C A 19: 31,083,136 P24Q probably damaging Het
Cwc22 A G 2: 77,927,296 S163P probably damaging Het
Faf1 T A 4: 109,677,081 probably benign Het
Focad T A 4: 88,370,806 I1279N unknown Het
Gp5 T C 16: 30,308,641 D405G possibly damaging Het
Guf1 C A 5: 69,561,158 N213K probably damaging Het
Hacd4 T C 4: 88,423,048 T145A probably damaging Het
Itga11 T C 9: 62,774,117 M1005T probably benign Het
Lrrc6 T A 15: 66,449,477 M272L probably benign Het
Mast4 T A 13: 102,774,273 T621S probably damaging Het
Mme T C 3: 63,340,113 M273T possibly damaging Het
Mos A G 4: 3,871,816 probably benign Het
Msln C T 17: 25,750,030 probably null Het
Mtg1 A T 7: 140,150,236 Q315L probably benign Het
Myh1 A G 11: 67,214,528 E1048G probably damaging Het
Ndufa9 C T 6: 126,844,814 G66D probably damaging Het
Nr1i2 T C 16: 38,265,971 K44R probably benign Het
Nup155 T A 15: 8,135,788 M636K probably benign Het
Olfr101 A T 17: 37,299,782 F213L probably benign Het
Olfr1446 T A 19: 12,890,149 T143S probably benign Het
Pde4b A T 4: 102,601,635 Q496L probably damaging Het
Plekha6 T C 1: 133,260,131 V130A probably benign Het
Prag1 A G 8: 36,102,680 N139S probably benign Het
Rbpj-ps3 T C 6: 46,530,760 T19A probably benign Het
Scai A G 2: 39,094,791 probably benign Het
Slc12a7 A G 13: 73,799,614 T617A probably benign Het
Slc15a2 T C 16: 36,756,230 M481V probably benign Het
Snx5 A G 2: 144,270,405 L8P probably benign Het
Spg11 C T 2: 122,114,671 A123T probably damaging Het
Supt6 T A 11: 78,222,187 I977F probably damaging Het
Tjp3 T C 10: 81,278,656 D442G probably benign Het
Ttc21b A T 2: 66,237,856 N275K probably benign Het
Vmn2r50 A G 7: 10,037,437 F779S probably damaging Het
Xirp2 A T 2: 67,515,138 R2574S probably benign Het
Zbp1 T C 2: 173,212,245 E161G possibly damaging Het
Other mutations in Aftph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Aftph APN 11 20727483 missense probably damaging 1.00
IGL01485:Aftph APN 11 20692507 missense probably damaging 1.00
IGL01622:Aftph APN 11 20709632 missense probably damaging 1.00
IGL01623:Aftph APN 11 20709632 missense probably damaging 1.00
IGL01777:Aftph APN 11 20726554 missense possibly damaging 0.49
IGL01825:Aftph APN 11 20726569 missense possibly damaging 0.77
IGL02804:Aftph APN 11 20726107 missense possibly damaging 0.89
IGL03003:Aftph APN 11 20726982 nonsense probably null
IGL03111:Aftph APN 11 20726040 missense probably benign 0.44
R1103:Aftph UTSW 11 20726547 missense probably benign 0.00
R1672:Aftph UTSW 11 20726762 missense probably benign 0.10
R2060:Aftph UTSW 11 20692571 missense probably damaging 1.00
R2141:Aftph UTSW 11 20698318 nonsense probably null
R2241:Aftph UTSW 11 20726328 missense possibly damaging 0.90
R2513:Aftph UTSW 11 20708676 splice site probably null
R2518:Aftph UTSW 11 20725797 missense probably damaging 0.98
R4751:Aftph UTSW 11 20727074 missense probably damaging 1.00
R4844:Aftph UTSW 11 20708667 splice site probably benign
R4879:Aftph UTSW 11 20698311 critical splice donor site probably null
R4895:Aftph UTSW 11 20696801 missense probably damaging 1.00
R5012:Aftph UTSW 11 20698264 intron probably benign
R5082:Aftph UTSW 11 20727100 missense probably damaging 0.98
R5093:Aftph UTSW 11 20709619 critical splice donor site probably null
R5160:Aftph UTSW 11 20712197 missense probably benign 0.03
R5288:Aftph UTSW 11 20726994 missense probably damaging 0.98
R5338:Aftph UTSW 11 20727203 missense probably benign 0.18
R5794:Aftph UTSW 11 20726955 unclassified probably null
R6747:Aftph UTSW 11 20726144 synonymous probably null
R6876:Aftph UTSW 11 20709744 missense probably damaging 1.00
R7034:Aftph UTSW 11 20692498 missense probably damaging 1.00
R7284:Aftph UTSW 11 20726812 missense probably benign 0.00
R7371:Aftph UTSW 11 20726836 missense probably benign
X0028:Aftph UTSW 11 20726338 missense probably damaging 1.00
Posted On2014-01-21