Incidental Mutation 'IGL01739:Aftph'
ID 105808
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aftph
Ensembl Gene ENSMUSG00000049659
Gene Name aftiphilin
Synonyms 9130023F12Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.835) question?
Stock # IGL01739
Quality Score
Status
Chromosome 11
Chromosomal Location 20635084-20691589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20676994 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q80WT5
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: 43,906,210 (GRCm39) Y88* probably null Het
Arhgap31 T C 16: 38,423,793 (GRCm39) I758V probably benign Het
Atg9b A G 5: 24,591,513 (GRCm39) probably null Het
Auts2 T C 5: 131,469,056 (GRCm39) T754A probably benign Het
Birc6 A G 17: 74,966,216 (GRCm39) M4048V probably benign Het
Cacna1s T C 1: 136,024,870 (GRCm39) probably null Het
Cmpk1 C T 4: 114,822,121 (GRCm39) A143T probably benign Het
Cstf2t C A 19: 31,060,536 (GRCm39) P24Q probably damaging Het
Cwc22 A G 2: 77,757,640 (GRCm39) S163P probably damaging Het
Dnaaf11 T A 15: 66,321,326 (GRCm39) M272L probably benign Het
Faf1 T A 4: 109,534,278 (GRCm39) probably benign Het
Focad T A 4: 88,289,043 (GRCm39) I1279N unknown Het
Gp5 T C 16: 30,127,459 (GRCm39) D405G possibly damaging Het
Guf1 C A 5: 69,718,501 (GRCm39) N213K probably damaging Het
Hacd4 T C 4: 88,341,285 (GRCm39) T145A probably damaging Het
Itga11 T C 9: 62,681,399 (GRCm39) M1005T probably benign Het
Mast4 T A 13: 102,910,781 (GRCm39) T621S probably damaging Het
Mme T C 3: 63,247,534 (GRCm39) M273T possibly damaging Het
Mos A G 4: 3,871,816 (GRCm39) probably benign Het
Msln C T 17: 25,969,004 (GRCm39) probably null Het
Mtg1 A T 7: 139,730,149 (GRCm39) Q315L probably benign Het
Myh1 A G 11: 67,105,354 (GRCm39) E1048G probably damaging Het
Ndufa9 C T 6: 126,821,777 (GRCm39) G66D probably damaging Het
Nr1i2 T C 16: 38,086,333 (GRCm39) K44R probably benign Het
Nup155 T A 15: 8,165,272 (GRCm39) M636K probably benign Het
Or12d12 A T 17: 37,610,673 (GRCm39) F213L probably benign Het
Or5b96 T A 19: 12,867,513 (GRCm39) T143S probably benign Het
Pde4b A T 4: 102,458,832 (GRCm39) Q496L probably damaging Het
Plekha6 T C 1: 133,187,869 (GRCm39) V130A probably benign Het
Prag1 A G 8: 36,569,834 (GRCm39) N139S probably benign Het
Rbpj-ps3 T C 6: 46,507,694 (GRCm39) T19A probably benign Het
Scai A G 2: 38,984,803 (GRCm39) probably benign Het
Slc12a7 A G 13: 73,947,733 (GRCm39) T617A probably benign Het
Slc15a2 T C 16: 36,576,592 (GRCm39) M481V probably benign Het
Snx5 A G 2: 144,112,325 (GRCm39) L8P probably benign Het
Spg11 C T 2: 121,945,152 (GRCm39) A123T probably damaging Het
Supt6 T A 11: 78,113,013 (GRCm39) I977F probably damaging Het
Tjp3 T C 10: 81,114,490 (GRCm39) D442G probably benign Het
Ttc21b A T 2: 66,068,200 (GRCm39) N275K probably benign Het
Vmn2r50 A G 7: 9,771,364 (GRCm39) F779S probably damaging Het
Xirp2 A T 2: 67,345,482 (GRCm39) R2574S probably benign Het
Zbp1 T C 2: 173,054,038 (GRCm39) E161G possibly damaging Het
Other mutations in Aftph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Aftph APN 11 20,677,483 (GRCm39) missense probably damaging 1.00
IGL01485:Aftph APN 11 20,642,507 (GRCm39) missense probably damaging 1.00
IGL01622:Aftph APN 11 20,659,632 (GRCm39) missense probably damaging 1.00
IGL01623:Aftph APN 11 20,659,632 (GRCm39) missense probably damaging 1.00
IGL01777:Aftph APN 11 20,676,554 (GRCm39) missense possibly damaging 0.49
IGL01825:Aftph APN 11 20,676,569 (GRCm39) missense possibly damaging 0.77
IGL02804:Aftph APN 11 20,676,107 (GRCm39) missense possibly damaging 0.89
IGL03003:Aftph APN 11 20,676,982 (GRCm39) nonsense probably null
IGL03111:Aftph APN 11 20,676,040 (GRCm39) missense probably benign 0.44
R1103:Aftph UTSW 11 20,676,547 (GRCm39) missense probably benign 0.00
R1672:Aftph UTSW 11 20,676,762 (GRCm39) missense probably benign 0.10
R2060:Aftph UTSW 11 20,642,571 (GRCm39) missense probably damaging 1.00
R2141:Aftph UTSW 11 20,648,318 (GRCm39) nonsense probably null
R2241:Aftph UTSW 11 20,676,328 (GRCm39) missense possibly damaging 0.90
R2513:Aftph UTSW 11 20,658,676 (GRCm39) splice site probably null
R2518:Aftph UTSW 11 20,675,797 (GRCm39) missense probably damaging 0.98
R4751:Aftph UTSW 11 20,677,074 (GRCm39) missense probably damaging 1.00
R4844:Aftph UTSW 11 20,658,667 (GRCm39) splice site probably benign
R4879:Aftph UTSW 11 20,648,311 (GRCm39) critical splice donor site probably null
R4895:Aftph UTSW 11 20,646,801 (GRCm39) missense probably damaging 1.00
R5012:Aftph UTSW 11 20,648,264 (GRCm39) intron probably benign
R5082:Aftph UTSW 11 20,677,100 (GRCm39) missense probably damaging 0.98
R5093:Aftph UTSW 11 20,659,619 (GRCm39) critical splice donor site probably null
R5160:Aftph UTSW 11 20,662,197 (GRCm39) missense probably benign 0.03
R5288:Aftph UTSW 11 20,676,994 (GRCm39) missense probably damaging 0.98
R5338:Aftph UTSW 11 20,677,203 (GRCm39) missense probably benign 0.18
R5794:Aftph UTSW 11 20,676,955 (GRCm39) splice site probably null
R6747:Aftph UTSW 11 20,676,144 (GRCm39) splice site probably null
R6876:Aftph UTSW 11 20,659,744 (GRCm39) missense probably damaging 1.00
R7034:Aftph UTSW 11 20,642,498 (GRCm39) missense probably damaging 1.00
R7284:Aftph UTSW 11 20,676,812 (GRCm39) missense probably benign 0.00
R7371:Aftph UTSW 11 20,676,836 (GRCm39) missense probably benign
R7974:Aftph UTSW 11 20,648,233 (GRCm39) makesense probably null
R8290:Aftph UTSW 11 20,675,712 (GRCm39) missense probably benign 0.01
X0028:Aftph UTSW 11 20,676,338 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21