Incidental Mutation 'R4844:Aftph'
ID 372060
Institutional Source Beutler Lab
Gene Symbol Aftph
Ensembl Gene ENSMUSG00000049659
Gene Name aftiphilin
Synonyms 9130023F12Rik
MMRRC Submission 042457-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.835) question?
Stock # R4844 (G1)
Quality Score 166
Status Validated
Chromosome 11
Chromosomal Location 20635084-20691589 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 20658667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000036778
Gene: ENSMUSG00000049659

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: ENSMUST00000134517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134897
Predicted Effect probably benign
Transcript: ENSMUST00000146722
SMART Domains Protein: ENSMUSP00000121612
Gene: ENSMUSG00000049659

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 noncoding transcript
Transcript: ENSMUST00000176585
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
SMART Domains Protein: ENSMUSP00000135450
Gene: ENSMUSG00000049659

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
SMART Domains Protein: ENSMUSP00000134991
Gene: ENSMUSG00000049659

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,634,824 (GRCm39) T147A probably benign Het
Acvrl1 T C 15: 101,033,409 (GRCm39) S99P probably damaging Het
Adamts3 T A 5: 89,825,675 (GRCm39) S1055C probably damaging Het
Aldh1a1 A G 19: 20,611,764 (GRCm39) K363E probably benign Het
Astn2 A G 4: 65,562,967 (GRCm39) V886A possibly damaging Het
Atad5 G A 11: 80,005,137 (GRCm39) probably null Het
C9orf72 A G 4: 35,213,565 (GRCm39) V31A possibly damaging Het
Ccnf G T 17: 24,449,331 (GRCm39) Y482* probably null Het
Cfap97 A G 8: 46,622,712 (GRCm39) D34G possibly damaging Het
Chst11 G T 10: 83,026,923 (GRCm39) E117* probably null Het
Cobl A T 11: 12,204,740 (GRCm39) L572Q probably benign Het
Coch G A 12: 51,649,477 (GRCm39) G263S probably damaging Het
Coq4 T C 2: 29,686,026 (GRCm39) I205T possibly damaging Het
Cyp3a13 A T 5: 137,915,813 (GRCm39) I62K probably benign Het
Cyp7a1 A G 4: 6,273,655 (GRCm39) S84P probably damaging Het
Dennd10 GTCT GT 19: 60,823,435 (GRCm39) probably null Het
G6pc3 G A 11: 102,084,057 (GRCm39) probably null Het
Gm10576 T C 4: 100,911,707 (GRCm39) noncoding transcript Het
Gm17511 G A 7: 126,885,454 (GRCm39) noncoding transcript Het
Gnat2 T C 3: 108,002,831 (GRCm39) S80P probably damaging Het
Gpaa1 C T 15: 76,216,508 (GRCm39) probably benign Het
Gpr107 T A 2: 31,078,686 (GRCm39) probably null Het
Hormad1 T C 3: 95,478,242 (GRCm39) Y103H probably damaging Het
Ighv14-1 T G 12: 113,895,622 (GRCm39) Q101P probably damaging Het
Igsf9 A G 1: 172,324,737 (GRCm39) D885G probably benign Het
Il15ra G A 2: 11,723,082 (GRCm39) probably benign Het
Islr2 C T 9: 58,115,517 (GRCm39) probably benign Het
Jak3 A T 8: 72,134,299 (GRCm39) N467I possibly damaging Het
Jarid2 T C 13: 45,067,248 (GRCm39) V1023A probably damaging Het
Kcnn2 A T 18: 45,816,187 (GRCm39) T333S possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kmt2c T C 5: 25,520,111 (GRCm39) T2000A probably benign Het
Lpxn A G 19: 12,810,536 (GRCm39) T327A probably damaging Het
Mxra8 A G 4: 155,927,151 (GRCm39) T362A probably benign Het
Myh6 A G 14: 55,184,651 (GRCm39) I1560T possibly damaging Het
Ndufv1 A G 19: 4,062,574 (GRCm39) S17P probably benign Het
Nwd1 A T 8: 73,393,742 (GRCm39) H335L probably damaging Het
Or1a1 A G 11: 74,086,902 (GRCm39) D191G probably damaging Het
Or2f1b T A 6: 42,739,394 (GRCm39) M136K probably damaging Het
Otop2 G A 11: 115,214,201 (GRCm39) probably null Het
Pwwp2b C A 7: 138,835,502 (GRCm39) S314R probably benign Het
Rfx7 C T 9: 72,500,524 (GRCm39) Q95* probably null Het
Serpine2 A T 1: 79,777,241 (GRCm39) L192* probably null Het
Smpdl3b T C 4: 132,465,369 (GRCm39) I322M probably damaging Het
Spata31d1b C T 13: 59,866,169 (GRCm39) R1106C possibly damaging Het
Sprr2k T G 3: 92,336,732 (GRCm39) probably null Het
St8sia1 T A 6: 142,774,996 (GRCm39) R194S possibly damaging Het
Sv2a T A 3: 96,095,695 (GRCm39) V337D probably damaging Het
Tars1 G A 15: 11,385,281 (GRCm39) R637W possibly damaging Het
Tcp11l2 G T 10: 84,449,555 (GRCm39) V507L probably benign Het
Tpr T C 1: 150,321,630 (GRCm39) Y2262H possibly damaging Het
Vars1 A G 17: 35,230,588 (GRCm39) E529G probably damaging Het
Vash2 C T 1: 190,710,691 (GRCm39) probably benign Het
Vmn1r194 T C 13: 22,429,223 (GRCm39) V280A probably benign Het
Vti1a A G 19: 55,380,297 (GRCm39) T142A probably damaging Het
Zfp111 C T 7: 23,898,801 (GRCm39) C270Y probably damaging Het
Zfp518a T A 19: 40,903,340 (GRCm39) Y1090N probably damaging Het
Zfp616 A T 11: 73,975,225 (GRCm39) Y498F 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
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'- AATGCCTCTTAAAGCACACTTTCT -3'
(R):5'- AGCTTATTGAGTTCATTATTCACAGT -3'

Sequencing Primer
(F):5'- CCTTGAATTTTAGCATCCAGGAGGC -3'
(R):5'- CTTCCTCCCTAATATACACAG -3'
Posted On 2016-03-01