Incidental Mutation 'IGL03003:Aftph'
ID 407438
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 # IGL03003
Quality Score
Status
Chromosome 11
Chromosomal Location 20635084-20691589 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 20676982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 209 (S209*)
Ref Sequence ENSEMBL: ENSMUSP00000134991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035350] [ENSMUST00000146722] [ENSMUST00000177014] [ENSMUST00000177543]
AlphaFold Q80WT5
Predicted Effect probably null
Transcript: ENSMUST00000035350
AA Change: S209*
SMART Domains Protein: ENSMUSP00000036778
Gene: ENSMUSG00000049659
AA Change: S209*

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 null
Transcript: ENSMUST00000146722
AA Change: S209*
SMART Domains Protein: ENSMUSP00000121612
Gene: ENSMUSG00000049659
AA Change: S209*

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 probably null
Transcript: ENSMUST00000177014
AA Change: S54*
SMART Domains Protein: ENSMUSP00000135450
Gene: ENSMUSG00000049659
AA Change: S54*

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 null
Transcript: ENSMUST00000177543
AA Change: S209*
SMART Domains Protein: ENSMUSP00000134991
Gene: ENSMUSG00000049659
AA Change: S209*

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,671,509 (GRCm39) P577L probably damaging Het
Aff3 A T 1: 38,248,651 (GRCm39) S819T probably damaging Het
Astn1 T A 1: 158,439,965 (GRCm39) D844E probably benign Het
Cc2d2a A G 5: 43,828,608 (GRCm39) K29E probably benign Het
Ccdc93 T C 1: 121,390,846 (GRCm39) S273P possibly damaging Het
Cd200r3 C A 16: 44,764,139 (GRCm39) H2N probably benign Het
Cd200r3 G T 16: 44,764,138 (GRCm39) M1I probably null Het
Col7a1 G A 9: 108,804,024 (GRCm39) probably null Het
Cyp3a41a T A 5: 145,642,640 (GRCm39) M240L probably benign Het
Dcstamp T C 15: 39,617,906 (GRCm39) V105A possibly damaging Het
Dmbt1 C A 7: 130,684,409 (GRCm39) P635Q probably benign Het
Dsg1a T A 18: 20,469,876 (GRCm39) M634K probably benign Het
Farp2 T C 1: 93,495,140 (GRCm39) Y138H probably damaging Het
Fga T C 3: 82,940,037 (GRCm39) S564P probably damaging Het
Gbf1 T C 19: 46,244,094 (GRCm39) L142S probably damaging Het
Gm5422 T C 10: 31,126,840 (GRCm39) noncoding transcript Het
Helz2 A G 2: 180,882,046 (GRCm39) V249A probably damaging Het
Hmcn2 C A 2: 31,323,498 (GRCm39) T4204K probably damaging Het
Ift81 T C 5: 122,732,725 (GRCm39) I270V probably benign Het
Katnip A T 7: 125,451,132 (GRCm39) I1088F probably damaging Het
Kif6 C T 17: 50,060,899 (GRCm39) R411* probably null Het
Klhl35 T A 7: 99,119,550 (GRCm39) V345D probably damaging Het
Mcm3ap C A 10: 76,340,531 (GRCm39) D1531E probably benign Het
Muc5b C A 7: 141,417,351 (GRCm39) D3432E probably benign Het
Nipbl A T 15: 8,379,798 (GRCm39) V998D probably damaging Het
Nlrc3 C A 16: 3,782,726 (GRCm39) V228L probably benign Het
Nrap T C 19: 56,310,384 (GRCm39) H1456R probably damaging Het
Nt5c1b C T 12: 10,424,910 (GRCm39) A210V possibly damaging Het
Or13a18 A G 7: 140,190,283 (GRCm39) Y60C probably damaging Het
Or1l4b T C 2: 37,036,464 (GRCm39) V80A probably benign Het
Osbpl7 T C 11: 96,941,521 (GRCm39) Y15H probably benign Het
Pde8b T A 13: 95,178,465 (GRCm39) N552Y probably damaging Het
Pi4kb T A 3: 94,892,123 (GRCm39) S280T probably benign Het
Pkd1 T A 17: 24,812,577 (GRCm39) probably null Het
Polh A T 17: 46,505,292 (GRCm39) V108E possibly damaging Het
Prob1 A G 18: 35,786,428 (GRCm39) S609P possibly damaging Het
Ptprz1 T A 6: 23,002,582 (GRCm39) N1557K probably damaging Het
Rev1 A C 1: 38,127,154 (GRCm39) F369V possibly damaging Het
Rgma A G 7: 73,067,188 (GRCm39) N148D probably damaging Het
Robo3 A G 9: 37,330,587 (GRCm39) L1003S probably damaging Het
Sdhb T C 4: 140,700,311 (GRCm39) V137A probably damaging Het
Sema6c T C 3: 95,076,925 (GRCm39) L337P probably damaging Het
Shc4 A T 2: 125,565,253 (GRCm39) Y15* probably null Het
Slc4a9 T C 18: 36,669,946 (GRCm39) S722P probably damaging Het
Smarcc1 A G 9: 110,035,168 (GRCm39) N864D probably damaging Het
Sspo T C 6: 48,432,021 (GRCm39) L745P probably damaging Het
Syce1l A G 8: 114,380,699 (GRCm39) D137G probably damaging Het
Tbc1d1 G T 5: 64,473,781 (GRCm39) W768L probably damaging Het
Tmbim7 A G 5: 3,711,887 (GRCm39) D7G probably benign Het
Tmem109 A C 19: 10,851,695 (GRCm39) S64A probably benign Het
Tnfrsf21 A G 17: 43,350,834 (GRCm39) R333G probably damaging Het
Ttn T G 2: 76,611,955 (GRCm39) S17316R probably damaging Het
Usp10 A G 8: 120,681,549 (GRCm39) T668A possibly damaging Het
Xirp2 T A 2: 67,345,906 (GRCm39) F2716I 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
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 2016-08-02