Incidental Mutation 'IGL03111:Aftph'
ID 419187
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 # IGL03111
Quality Score
Status
Chromosome 11
Chromosomal Location 20635084-20691589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20676040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 523 (D523G)
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: D523G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000036778
Gene: ENSMUSG00000049659
AA Change: D523G

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: D523G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000121612
Gene: ENSMUSG00000049659
AA Change: D523G

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: D44G
SMART Domains Protein: ENSMUSP00000134791
Gene: ENSMUSG00000049659
AA Change: D44G

DomainStartEndE-ValueType
low complexity region 68 82 N/A INTRINSIC
low complexity region 140 153 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177014
AA Change: D368G

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135450
Gene: ENSMUSG00000049659
AA Change: D368G

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 probably benign
Transcript: ENSMUST00000177543
AA Change: D523G

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134991
Gene: ENSMUSG00000049659
AA Change: D523G

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh1 A C 12: 87,480,907 (GRCm39) H176Q probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arid4a G A 12: 71,086,740 (GRCm39) A193T probably damaging Het
Cdkal1 A G 13: 29,538,684 (GRCm39) S492P possibly damaging Het
Cep170b C T 12: 112,701,613 (GRCm39) T164I probably damaging Het
Chst1 T C 2: 92,443,692 (GRCm39) Y55H possibly damaging Het
Clybl C T 14: 122,639,395 (GRCm39) P320S probably damaging Het
Cpne9 T C 6: 113,277,571 (GRCm39) I430T possibly damaging Het
Cyc1 T G 15: 76,229,072 (GRCm39) S113A probably benign Het
Cyp4b1 C T 4: 115,493,066 (GRCm39) probably benign Het
Dpysl3 T C 18: 43,462,910 (GRCm39) D489G probably damaging Het
Epha3 T C 16: 63,473,809 (GRCm39) D15G probably damaging Het
Ephb4 C A 5: 137,370,767 (GRCm39) F933L probably benign Het
Fan1 A T 7: 63,999,816 (GRCm39) D856E possibly damaging Het
Gabra6 T A 11: 42,207,844 (GRCm39) D208V probably damaging Het
Kif3b T A 2: 153,171,988 (GRCm39) S719R probably benign Het
Ldhd A C 8: 112,353,797 (GRCm39) C439G probably damaging Het
Lipo3 C T 19: 33,559,637 (GRCm39) V78I probably damaging Het
Mterf2 A T 10: 84,955,786 (GRCm39) Y279* probably null Het
Myo9a G T 9: 59,734,526 (GRCm39) A703S probably benign Het
Ndst3 T A 3: 123,465,745 (GRCm39) T76S possibly damaging Het
Nlrp4f A T 13: 65,330,816 (GRCm39) L859Q probably damaging Het
Nlrp4g T A 9: 124,353,978 (GRCm38) noncoding transcript Het
Or1s2 T A 19: 13,758,343 (GRCm39) Y122* probably null Het
Or51g2 G A 7: 102,622,738 (GRCm39) R154C probably damaging Het
Or6c215 G A 10: 129,637,947 (GRCm39) T149I probably benign Het
Osgin1 A T 8: 120,169,788 (GRCm39) K113M probably damaging Het
Plcb4 T A 2: 135,818,202 (GRCm39) Y823N probably damaging Het
Prg4 T C 1: 150,327,653 (GRCm39) I856V probably benign Het
Pxdn T A 12: 30,032,755 (GRCm39) S180T probably damaging Het
Skint9 T A 4: 112,248,921 (GRCm39) N169I probably benign Het
Slc24a1 T C 9: 64,833,608 (GRCm39) T996A probably damaging Het
Tbc1d20 T C 2: 152,149,998 (GRCm39) Y91H probably damaging Het
Tbc1d9b A G 11: 50,049,369 (GRCm39) Y772C probably damaging Het
Thbd T A 2: 148,248,392 (GRCm39) E492V probably benign Het
Thra A G 11: 98,651,855 (GRCm39) probably benign Het
Tmem131 A G 1: 36,867,225 (GRCm39) S403P probably damaging Het
Zfp455 T C 13: 67,356,063 (GRCm39) S444P probably benign Het
Zfp946 A G 17: 22,673,537 (GRCm39) H97R 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
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
IGL02804:Aftph APN 11 20,676,107 (GRCm39) missense possibly damaging 0.89
IGL03003:Aftph APN 11 20,676,982 (GRCm39) nonsense probably null
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 2016-08-02