Incidental Mutation 'IGL02804:Aftph'
ID 360343
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 # IGL02804
Quality Score
Status
Chromosome 11
Chromosomal Location 20635084-20691589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20676107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 501 (T501A)
Ref Sequence ENSEMBL: ENSMUSP00000134991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035350] [ENSMUST00000146722] [ENSMUST00000177014] [ENSMUST00000177543]
AlphaFold Q80WT5
Predicted Effect probably benign
Transcript: ENSMUST00000035350
AA Change: T501A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000036778
Gene: ENSMUSG00000049659
AA Change: T501A

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 benign
Transcript: ENSMUST00000146722
AA Change: T501A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000121612
Gene: ENSMUSG00000049659
AA Change: T501A

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 unknown
Transcript: ENSMUST00000176782
AA Change: T22A
SMART Domains Protein: ENSMUSP00000134791
Gene: ENSMUSG00000049659
AA Change: T22A

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: T346A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135450
Gene: ENSMUSG00000049659
AA Change: T346A

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: T501A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134991
Gene: ENSMUSG00000049659
AA Change: T501A

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A T 4: 144,397,009 (GRCm39) I241N possibly damaging Het
Agrn A G 4: 156,258,512 (GRCm39) S985P probably benign Het
Atxn7l1 T A 12: 33,417,788 (GRCm39) S650T probably damaging Het
Camk2d G A 3: 126,591,387 (GRCm39) E286K possibly damaging Het
Card10 A G 15: 78,686,649 (GRCm39) V56A probably damaging Het
Fcgbpl1 G T 7: 27,852,795 (GRCm39) V1361L probably benign Het
H2-Q10 G A 17: 35,784,147 (GRCm39) G263R probably damaging Het
Herc4 A C 10: 63,121,454 (GRCm39) K365Q probably benign Het
Klhl33 T C 14: 51,130,411 (GRCm39) H101R probably damaging Het
Lef1 A G 3: 130,988,338 (GRCm39) N236D probably damaging Het
Lipg T A 18: 75,082,159 (GRCm39) N255Y probably damaging Het
Lrp5 T C 19: 3,650,777 (GRCm39) D1219G possibly damaging Het
Myh7b T C 2: 155,467,643 (GRCm39) L756P probably damaging Het
Nnt A G 13: 119,518,210 (GRCm39) probably null Het
Or6c88 T C 10: 129,407,306 (GRCm39) S261P possibly damaging Het
Pcsk9 A G 4: 106,314,161 (GRCm39) Y145H probably damaging Het
Prkag1 G A 15: 98,713,385 (GRCm39) S69L probably damaging Het
Prkd2 C A 7: 16,589,815 (GRCm39) R506S probably benign Het
Ralgapb T A 2: 158,268,204 (GRCm39) D102E possibly damaging Het
Rbm44 A G 1: 91,077,898 (GRCm39) probably benign Het
Snap23 T C 2: 120,416,637 (GRCm39) probably benign Het
Sntg1 T A 1: 8,874,182 (GRCm39) probably benign Het
Speer4a2 T A 5: 26,291,429 (GRCm39) K126* probably null Het
Strbp T C 2: 37,514,498 (GRCm39) probably benign Het
Tmem217 G A 17: 29,745,455 (GRCm39) L92F probably damaging Het
Troap G A 15: 98,975,552 (GRCm39) probably null Het
Vmn1r16 T C 6: 57,300,467 (GRCm39) M52V probably benign Het
Wwox G A 8: 115,438,753 (GRCm39) G273E probably damaging Het
Zbp1 T A 2: 173,050,939 (GRCm39) K310N probably damaging Het
Zfp423 T A 8: 88,509,285 (GRCm39) H332L 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
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
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 2015-12-18