Incidental Mutation 'R7371:Aftph'
ID 572101
Institutional Source Beutler Lab
Gene Symbol Aftph
Ensembl Gene ENSMUSG00000049659
Gene Name aftiphilin
Synonyms 9130023F12Rik
MMRRC Submission 045454-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.835) question?
Stock # R7371 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 20635084-20691589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20676836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 258 (T258A)
Ref Sequence ENSEMBL: ENSMUSP00000036778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035350] [ENSMUST00000146722] [ENSMUST00000177014] [ENSMUST00000177543]
AlphaFold Q80WT5
Predicted Effect probably benign
Transcript: ENSMUST00000035350
AA Change: T258A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036778
Gene: ENSMUSG00000049659
AA Change: T258A

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 probably benign
Transcript: ENSMUST00000146722
AA Change: T258A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121612
Gene: ENSMUSG00000049659
AA Change: T258A

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 benign
Transcript: ENSMUST00000177014
AA Change: T103A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135450
Gene: ENSMUSG00000049659
AA Change: T103A

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: T258A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134991
Gene: ENSMUSG00000049659
AA Change: T258A

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (88/90)
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A C 12: 81,607,064 (GRCm39) S233A probably damaging Het
Adcy8 T A 15: 64,571,067 (GRCm39) H1222L probably benign Het
Ano3 A C 2: 110,715,194 (GRCm39) probably null Het
Aox4 A G 1: 58,303,013 (GRCm39) D1148G probably damaging Het
Bcl11b A T 12: 107,955,750 (GRCm39) I133N probably damaging Het
Borcs7 T A 19: 46,688,057 (GRCm39) D67E probably damaging Het
Cacna2d4 T A 6: 119,285,670 (GRCm39) I774N probably benign Het
Catsperd A T 17: 56,957,801 (GRCm39) Y236F probably benign Het
Cblc T C 7: 19,526,828 (GRCm39) S135G probably benign Het
Ccdc168 C A 1: 44,100,537 (GRCm39) R187L probably benign Het
Ccdc178 A G 18: 22,263,195 (GRCm39) V138A probably benign Het
Cd300ld C T 11: 114,878,186 (GRCm39) G109R probably damaging Het
Cdh3 T A 8: 107,279,109 (GRCm39) N690K probably damaging Het
Ceacam1 T A 7: 25,174,145 (GRCm39) Y170F possibly damaging Het
Ceacam9 A C 7: 16,457,652 (GRCm39) H55P possibly damaging Het
Celsr1 C T 15: 85,914,875 (GRCm39) V1033I possibly damaging Het
Cep97 T C 16: 55,725,683 (GRCm39) S807G probably benign Het
Ces1b A G 8: 93,783,982 (GRCm39) probably null Het
Chn1 T C 2: 73,510,234 (GRCm39) T92A probably damaging Het
Cimap1b C A 15: 89,263,365 (GRCm39) W6L probably damaging Het
Cngb3 A C 4: 19,425,575 (GRCm39) Y461S possibly damaging Het
Col24a1 A G 3: 145,049,459 (GRCm39) N629S probably benign Het
Cpd T C 11: 76,737,437 (GRCm39) D119G probably benign Het
Cpsf1 T C 15: 76,484,775 (GRCm39) D594G probably damaging Het
Cpsf7 C T 19: 10,509,203 (GRCm39) A38V probably benign Het
Cry1 A T 10: 84,983,783 (GRCm39) H224Q probably benign Het
Ctr9 T A 7: 110,633,014 (GRCm39) D87E probably damaging Het
Cyp2u1 T A 3: 131,087,144 (GRCm39) N479I probably benign Het
Dip2c A G 13: 9,642,785 (GRCm39) N672D probably benign Het
Dnah14 T C 1: 181,454,450 (GRCm39) V820A probably benign Het
Efnb2 T C 8: 8,710,524 (GRCm39) I31V probably benign Het
Fgb T C 3: 82,953,359 (GRCm39) Y137C probably damaging Het
Fkbp15 A G 4: 62,239,293 (GRCm39) V604A possibly damaging Het
Flii A T 11: 60,609,090 (GRCm39) N682K probably benign Het
Fmo3 A G 1: 162,781,796 (GRCm39) L519P possibly damaging Het
Gapvd1 T A 2: 34,607,385 (GRCm39) M538L probably benign Het
Gbp11 A G 5: 105,489,971 (GRCm39) V69A probably benign Het
Ggn T A 7: 28,871,605 (GRCm39) D364E probably benign Het
Gm10377 G A 14: 42,614,853 (GRCm39) P171S probably benign Het
Gramd4 C T 15: 86,019,607 (GRCm39) A625V probably benign Het
Il2ra T A 2: 11,647,831 (GRCm39) M7K probably benign Het
Iqgap2 A T 13: 95,836,846 (GRCm39) probably null Het
Itgb4 T C 11: 115,888,906 (GRCm39) V1083A probably benign Het
Kcnma1 G A 14: 23,544,638 (GRCm39) A573V possibly damaging Het
Kirrel1 T C 3: 86,995,729 (GRCm39) T402A probably benign Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Krt4 T A 15: 101,828,823 (GRCm39) Q347L probably damaging Het
Map3k21 T A 8: 126,661,804 (GRCm39) I467N probably damaging Het
Mastl A T 2: 23,030,585 (GRCm39) S195T probably damaging Het
Mis18bp1 G T 12: 65,205,368 (GRCm39) T268K probably benign Het
Mmp17 G A 5: 129,682,836 (GRCm39) G492S probably null Het
Myc T A 15: 61,860,031 (GRCm39) S236T probably damaging Het
Nlrp5 A T 7: 23,117,848 (GRCm39) E524V probably damaging Het
Nopchap1 T C 10: 83,201,680 (GRCm39) V151A probably benign Het
Npr3 T A 15: 11,845,376 (GRCm39) probably null Het
Oog4 T C 4: 143,165,346 (GRCm39) N267S possibly damaging Het
Or2a12 T A 6: 42,904,469 (GRCm39) Y101* probably null Het
Or4l15 A T 14: 50,198,563 (GRCm39) probably null Het
Or56a5 A G 7: 104,793,086 (GRCm39) I138T possibly damaging Het
Pde4dip T C 3: 97,664,587 (GRCm39) E425G probably benign Het
Piwil4 A C 9: 14,638,729 (GRCm39) N312K probably benign Het
Pmepa1 A G 2: 173,076,212 (GRCm39) M47T possibly damaging Het
Potefam1 A T 2: 111,023,826 (GRCm39) S475T unknown Het
Prkcg G A 7: 3,368,069 (GRCm39) G372D probably benign Het
Prune2 A G 19: 17,096,734 (GRCm39) H746R probably benign Het
Ptma GGAAGAAG GGAAGAAGAAG 1: 86,457,261 (GRCm39) probably benign Het
Rab3gap2 C G 1: 184,983,265 (GRCm39) A468G probably damaging Het
Ralb A G 1: 119,400,129 (GRCm39) L123P Het
Ralgapa2 G A 2: 146,189,046 (GRCm39) T1288I probably benign Het
Samd4b C A 7: 28,122,926 (GRCm39) C44F probably benign Het
Satb1 C A 17: 52,090,008 (GRCm39) E280* probably null Het
Sec1 T C 7: 45,328,034 (GRCm39) T338A probably damaging Het
Sec16a T C 2: 26,331,734 (GRCm39) T94A probably benign Het
Serpina1f G A 12: 103,656,086 (GRCm39) R381W probably damaging Het
Sfswap A T 5: 129,620,305 (GRCm39) T525S probably benign Het
Skor1 T C 9: 63,054,169 (GRCm39) probably null Het
Spc24 A G 9: 21,668,664 (GRCm39) L111P probably damaging Het
St8sia2 T C 7: 73,616,675 (GRCm39) D121G probably damaging Het
Tanc2 A G 11: 105,689,422 (GRCm39) T195A probably benign Het
Tbc1d9 T A 8: 83,997,890 (GRCm39) I1149N probably damaging Het
Tph2 A T 10: 114,987,016 (GRCm39) L258Q probably damaging Het
Trpm3 A T 19: 22,879,557 (GRCm39) M781L probably benign Het
Ubap2 G T 4: 41,195,779 (GRCm39) P1005T probably benign Het
Upf2 A G 2: 5,965,851 (GRCm39) E157G unknown Het
Urb2 C A 8: 124,755,008 (GRCm39) D238E probably benign Het
Vipr1 T C 9: 121,497,621 (GRCm39) S380P probably damaging Het
Zc3h18 T A 8: 123,139,760 (GRCm39) S734T unknown Het
Zmym6 T A 4: 126,998,106 (GRCm39) Y381N probably damaging Het
Zscan4e T C 7: 11,041,251 (GRCm39) K207R 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
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
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
Predicted Primers PCR Primer
(F):5'- TAGAAACTCATCCTGTTGCAGTG -3'
(R):5'- TCCTCAGGGAACAGATGACC -3'

Sequencing Primer
(F):5'- AACTCATCCTGTTGCAGTGTTTGAAG -3'
(R):5'- CCTGGACAATGTGGCAGATTC -3'
Posted On 2019-09-13