Incidental Mutation 'IGL01777:Aftph'
ID 154114
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 # IGL01777
Quality Score
Status
Chromosome 11
Chromosomal Location 20635084-20691589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20676554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 352 (C352S)
Ref Sequence ENSEMBL: ENSMUSP00000134991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035350] [ENSMUST00000146722] [ENSMUST00000177014] [ENSMUST00000177543]
AlphaFold Q80WT5
Predicted Effect possibly damaging
Transcript: ENSMUST00000035350
AA Change: C352S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036778
Gene: ENSMUSG00000049659
AA Change: C352S

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 possibly damaging
Transcript: ENSMUST00000146722
AA Change: C352S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121612
Gene: ENSMUSG00000049659
AA Change: C352S

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: C197S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135450
Gene: ENSMUSG00000049659
AA Change: C197S

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: C352S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134991
Gene: ENSMUSG00000049659
AA Change: C352S

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 59,932,205 (GRCm39) V240A possibly damaging Het
Cand2 T C 6: 115,769,818 (GRCm39) V876A probably damaging Het
Ccar1 T C 10: 62,616,356 (GRCm39) I125V possibly damaging Het
Celsr3 A T 9: 108,713,141 (GRCm39) M1858L probably benign Het
Csmd3 A T 15: 47,561,594 (GRCm39) N2134K probably benign Het
Dhx29 A G 13: 113,067,406 (GRCm39) I96V probably benign Het
Dst A G 1: 34,238,478 (GRCm39) T3727A probably benign Het
Elavl4 T A 4: 110,063,858 (GRCm39) probably null Het
Eno2 C T 6: 124,743,600 (GRCm39) G113D probably damaging Het
Esf1 A C 2: 139,999,092 (GRCm39) probably null Het
Frmd4b T C 6: 97,272,905 (GRCm39) D783G probably benign Het
Grin2a C T 16: 9,461,994 (GRCm39) V713I probably benign Het
Impa1 C T 3: 10,388,008 (GRCm39) G138D probably damaging Het
Kcnt2 A G 1: 140,523,736 (GRCm39) T1079A probably benign Het
Kmt2a A G 9: 44,760,302 (GRCm39) S549P probably damaging Het
Magoh C A 4: 107,740,373 (GRCm39) Q86K probably benign Het
Moxd1 C A 10: 24,128,494 (GRCm39) T182K probably benign Het
Or5p55 A G 7: 107,566,709 (GRCm39) Y35C probably damaging Het
Pramel25 T G 4: 143,521,688 (GRCm39) C435G possibly damaging Het
Rab3b A T 4: 108,786,607 (GRCm39) Q119L probably damaging Het
Snap47 T A 11: 59,312,477 (GRCm39) probably null Het
Taar3 A G 10: 23,825,903 (GRCm39) R150G probably benign Het
Tas2r102 C T 6: 132,739,815 (GRCm39) T241I probably damaging Het
Tas2r114 C T 6: 131,666,664 (GRCm39) W121* probably null Het
Trak1 G A 9: 121,260,626 (GRCm39) probably null Het
Ubn1 T C 16: 4,890,013 (GRCm39) V426A possibly damaging Het
Vmn1r40 T C 6: 89,691,204 (GRCm39) L7P probably benign Het
Vmn2r43 T C 7: 8,258,272 (GRCm39) I314V probably damaging Het
Vrtn T G 12: 84,695,696 (GRCm39) S149A probably benign 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
IGL01739:Aftph APN 11 20,676,994 (GRCm39) missense probably damaging 0.98
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 2014-02-04