Incidental Mutation 'R2518:Aftph'
ID 254089
Institutional Source Beutler Lab
Gene Symbol Aftph
Ensembl Gene ENSMUSG00000049659
Gene Name aftiphilin
Synonyms 9130023F12Rik
MMRRC Submission 040422-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.835) question?
Stock # R2518 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 20635084-20691589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 20675797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 604 (T604K)
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: T604K

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036778
Gene: ENSMUSG00000049659
AA Change: T604K

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: T604K

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121612
Gene: ENSMUSG00000049659
AA Change: T604K

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: T125K
SMART Domains Protein: ENSMUSP00000134791
Gene: ENSMUSG00000049659
AA Change: T125K

DomainStartEndE-ValueType
low complexity region 68 82 N/A INTRINSIC
low complexity region 140 153 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177014
AA Change: T449K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135450
Gene: ENSMUSG00000049659
AA Change: T449K

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 damaging
Transcript: ENSMUST00000177543
AA Change: T604K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134991
Gene: ENSMUSG00000049659
AA Change: T604K

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 A G 8: 25,127,157 (GRCm39) C480R probably damaging Het
Bivm T C 1: 44,168,775 (GRCm39) V279A probably damaging Het
C2cd2 G A 16: 97,723,286 (GRCm39) T77I probably benign Het
Ccdc146 T C 5: 21,510,526 (GRCm39) H527R probably benign Het
Cd226 A G 18: 89,225,451 (GRCm39) N116S probably benign Het
Cit A G 5: 116,125,105 (GRCm39) K1612E probably damaging Het
Cmtr1 T A 17: 29,900,954 (GRCm39) Y663* probably null Het
Col3a1 T A 1: 45,376,672 (GRCm39) probably benign Het
Copa A G 1: 171,947,468 (GRCm39) N1095D probably benign Het
Cpne1 G T 2: 155,915,891 (GRCm39) A433E probably damaging Het
Cyfip1 C T 7: 55,578,032 (GRCm39) L1181F probably damaging Het
Dnajc6 T A 4: 101,470,127 (GRCm39) I220N probably damaging Het
Duxbl1 G C 14: 25,988,172 (GRCm39) probably benign Het
Fam135b C T 15: 71,335,760 (GRCm39) R478H probably benign Het
Fam91a1 T A 15: 58,322,449 (GRCm39) S734T possibly damaging Het
Fut10 T G 8: 31,726,495 (GRCm39) S417A probably benign Het
Gm9945 C T 11: 53,371,163 (GRCm39) probably benign Het
Golga4 A G 9: 118,385,680 (GRCm39) E934G probably damaging Het
Gpat2 G A 2: 127,270,211 (GRCm39) V75M probably damaging Het
Hdac5 A G 11: 102,087,962 (GRCm39) V949A probably damaging Het
Hdgfl1 G T 13: 26,953,732 (GRCm39) L114I probably benign Het
Ifi27l2b T A 12: 103,422,083 (GRCm39) M94L unknown Het
Irs2 C A 8: 11,055,352 (GRCm39) A1027S probably benign Het
Itga2 A T 13: 115,017,578 (GRCm39) C111S probably damaging Het
Khdrbs1 T C 4: 129,614,540 (GRCm39) T338A probably benign Het
Klk1 T C 7: 43,870,161 (GRCm39) probably null Het
Kmt2b T C 7: 30,275,493 (GRCm39) N1822S probably benign Het
Lrig3 T C 10: 125,830,310 (GRCm39) I136T probably benign Het
Lyar T A 5: 38,385,276 (GRCm39) D105E probably benign Het
Mat1a T A 14: 40,844,469 (GRCm39) D366E probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Neb T A 2: 52,139,523 (GRCm39) K95* probably null Het
Nectin4 A G 1: 171,207,776 (GRCm39) D56G probably benign Het
Nup58 A T 14: 60,470,109 (GRCm39) F334Y probably damaging Het
Or14a256 A T 7: 86,265,395 (GRCm39) F153I probably benign Het
Or9i1 A G 19: 13,839,673 (GRCm39) N172S probably damaging Het
Pde8a C A 7: 80,967,170 (GRCm39) T437K probably benign Het
Ppp1r3a A T 6: 14,719,377 (GRCm39) N512K possibly damaging Het
Pramel12 A G 4: 143,144,473 (GRCm39) Q273R possibly damaging Het
Rad51ap2 A G 12: 11,507,068 (GRCm39) D330G probably damaging Het
Ren1 G A 1: 133,287,862 (GRCm39) A399T probably damaging Het
Rnft2 G T 5: 118,332,670 (GRCm39) probably benign Het
Septin14 A T 5: 129,776,099 (GRCm39) S27T probably benign Het
Shld1 T A 2: 132,592,447 (GRCm39) S165T probably damaging Het
Shox2 T C 3: 66,885,692 (GRCm39) K128E possibly damaging Het
Skint1 T C 4: 111,882,678 (GRCm39) W241R probably benign Het
Slc24a4 T A 12: 102,188,310 (GRCm39) H134Q probably benign Het
Slc25a36 A T 9: 96,961,124 (GRCm39) L165Q possibly damaging Het
Slc35f1 A G 10: 52,949,630 (GRCm39) I240V probably benign Het
Slc66a1 A G 4: 139,029,810 (GRCm39) F74L probably damaging Het
Tab2 G A 10: 7,783,245 (GRCm39) P679L probably damaging Het
Tarbp2 A G 15: 102,426,992 (GRCm39) E3G possibly damaging Het
Tas2r130 A T 6: 131,607,036 (GRCm39) I253K probably damaging Het
Timm44 A C 8: 4,316,588 (GRCm39) C319G probably null Het
Tjap1 A T 17: 46,571,021 (GRCm39) N165K probably damaging Het
Tmem63b A G 17: 45,977,080 (GRCm39) I429T probably benign Het
Trabd2b A T 4: 114,457,100 (GRCm39) D339V probably damaging Het
Tst T C 15: 78,290,033 (GRCm39) M1V probably null Het
Ube4a A T 9: 44,859,435 (GRCm39) N335K probably benign Het
Vps54 C T 11: 21,256,394 (GRCm39) T633M probably benign Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zfp953 A G 13: 67,496,003 (GRCm39) Y13H probably 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
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
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
Predicted Primers PCR Primer
(F):5'- TATCACACAGAAACCTCTTTGACAG -3'
(R):5'- GTAGTGCTTTTCAAGACTCGGATG -3'

Sequencing Primer
(F):5'- GAAACCTCTTTGACAGATACTCAGG -3'
(R):5'- CAAGACTCGGATGATTTTGCAGAC -3'
Posted On 2014-12-04