Incidental Mutation 'R5012:Aftph'
ID 390581
Institutional Source Beutler Lab
Gene Symbol Aftph
Ensembl Gene ENSMUSG00000049659
Gene Name aftiphilin
Synonyms 9130023F12Rik
MMRRC Submission 042603-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.835) question?
Stock # R5012 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 20635084-20691589 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 20648264 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 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 unknown
Transcript: ENSMUST00000177014
AA Change: A676V
SMART Domains Protein: ENSMUSP00000135450
Gene: ENSMUSG00000049659
AA Change: A676V

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: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 90.9%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,767,217 (GRCm39) T268K possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Acsl1 A G 8: 46,974,468 (GRCm39) S314G probably benign Het
Ankrd34c T G 9: 89,611,709 (GRCm39) I211L probably benign Het
Anks1b A G 10: 90,194,999 (GRCm39) T560A probably benign Het
Carmil1 G T 13: 24,208,403 (GRCm39) S1247R possibly damaging Het
Elf1 T A 14: 79,808,174 (GRCm39) Y172N probably damaging Het
Emx1 C T 6: 85,180,955 (GRCm39) P224L probably benign Het
Fastkd2 A T 1: 63,789,055 (GRCm39) probably benign Het
Fbxw27 C A 9: 109,602,271 (GRCm39) C234F probably benign Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Igkv6-23 C A 6: 70,237,529 (GRCm39) A71S probably damaging Het
Igsf10 A G 3: 59,226,143 (GRCm39) L2510P probably damaging Het
Itgal T C 7: 126,898,802 (GRCm39) probably null Het
Kmt2c C A 5: 25,504,710 (GRCm39) G122* probably null Het
Lamtor2 C T 3: 88,460,163 (GRCm39) R3H possibly damaging Het
Magi2 A T 5: 20,670,618 (GRCm39) T321S probably damaging Het
Mau2 A G 8: 70,484,107 (GRCm39) probably null Het
Mcm7 A T 5: 138,167,609 (GRCm39) probably null Het
Mitd1 A T 1: 37,924,374 (GRCm39) C59S probably benign Het
Muc6 A G 7: 141,216,570 (GRCm39) L2636P possibly damaging Het
Paip1 A G 13: 119,584,338 (GRCm39) M233V probably benign Het
Pcdhb11 C A 18: 37,556,029 (GRCm39) T453N possibly damaging Het
Plcb1 A G 2: 135,175,320 (GRCm39) N545S probably null Het
Prl8a9 A T 13: 27,746,594 (GRCm39) probably null Het
Psmc2 A G 5: 22,007,563 (GRCm39) T308A probably benign Het
Rassf2 C A 2: 131,851,610 (GRCm39) R44L probably damaging Het
Scn11a A T 9: 119,609,944 (GRCm39) M968K probably benign Het
Septin4 T A 11: 87,475,230 (GRCm39) S146T possibly damaging Het
Slc41a2 A G 10: 83,137,127 (GRCm39) I260T probably benign Het
Steap2 G C 5: 5,727,784 (GRCm39) L184V possibly damaging Het
Ttll5 G A 12: 85,973,618 (GRCm39) E776K possibly damaging Het
Vipr1 A T 9: 121,487,111 (GRCm39) probably null Het
Yars2 T C 16: 16,121,448 (GRCm39) S201P probably damaging Het
Zfp386 T A 12: 116,022,864 (GRCm39) I194K probably benign Het
Zfp988 A G 4: 147,416,060 (GRCm39) I165V 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
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'- ACATTCAAACAAATTGGTCCTAGC -3'
(R):5'- ACGTACATTGTTGCATAATGGTC -3'

Sequencing Primer
(F):5'- GGCTGGTATCTTGAGCAAT -3'
(R):5'- AGGGAGTTGCTTTGTTTTAAGAAATC -3'
Posted On 2016-06-06