Incidental Mutation 'R5160:Aftph'
ID 396946
Institutional Source Beutler Lab
Gene Symbol Aftph
Ensembl Gene ENSMUSG00000049659
Gene Name aftiphilin
Synonyms 9130023F12Rik
MMRRC Submission 042742-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.835) question?
Stock # R5160 (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 A at 20662197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 681 (P681L)
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: P681L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000036778
Gene: ENSMUSG00000049659
AA Change: P681L

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
AA Change: P681L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000121612
Gene: ENSMUSG00000049659
AA Change: P681L

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
AA Change: P526L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000135450
Gene: ENSMUSG00000049659
AA Change: P526L

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: P681L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000134991
Gene: ENSMUSG00000049659
AA Change: P681L

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: 97.1%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,080,007 (GRCm39) R1920G probably damaging Het
Ano9 G A 7: 140,684,278 (GRCm39) R495C probably damaging Het
Apoa5 A G 9: 46,181,794 (GRCm39) Y290C probably damaging Het
Apob T C 12: 8,062,126 (GRCm39) I3536T possibly damaging Het
Arhgap42 T G 9: 8,997,656 (GRCm39) K823T probably damaging Het
Bicc1 T C 10: 70,768,066 (GRCm39) Y850C probably damaging Het
Cdh2 A T 18: 16,762,644 (GRCm39) D433E probably damaging Het
Cfap100 A G 6: 90,390,692 (GRCm39) probably null Het
Col6a5 T C 9: 105,808,208 (GRCm39) N947D unknown Het
Col8a2 A G 4: 126,204,205 (GRCm39) K72E possibly damaging Het
Ddx18 A G 1: 121,493,608 (GRCm39) probably null Het
Dna2 T C 10: 62,782,933 (GRCm39) V21A probably benign Het
Dnaja3 T A 16: 4,502,152 (GRCm39) M52K probably benign Het
Fnip2 G A 3: 79,396,298 (GRCm39) T504I probably damaging Het
Il18 G A 9: 50,489,193 (GRCm39) probably null Het
Ina T A 19: 47,003,519 (GRCm39) I109N probably damaging Het
Katnb1 G T 8: 95,822,098 (GRCm39) V275L probably benign Het
Kdm6b C A 11: 69,291,594 (GRCm39) probably benign Het
Kifc2 T A 15: 76,547,177 (GRCm39) L251Q probably damaging Het
Kmt2d A G 15: 98,738,105 (GRCm39) probably benign Het
Lcor T A 19: 41,544,053 (GRCm39) V82E probably damaging Het
Limk2 A C 11: 3,300,772 (GRCm39) V190G probably damaging Het
Luc7l A G 17: 26,486,271 (GRCm39) D150G probably benign Het
Magi3 T A 3: 103,935,224 (GRCm39) H903L possibly damaging Het
Mdh1b C T 1: 63,764,804 (GRCm39) R33Q probably null Het
Myo9a T C 9: 59,779,085 (GRCm39) F1614L probably benign Het
Ngly1 A G 14: 16,281,751 (GRCm38) T210A probably damaging Het
Oas1h A G 5: 121,009,145 (GRCm39) Y285C probably damaging Het
Or1l4b T A 2: 37,036,815 (GRCm39) M197K probably benign Het
Or2h1 T C 17: 37,404,616 (GRCm39) D50G possibly damaging Het
Or2y12 T C 11: 49,426,516 (GRCm39) L168P probably damaging Het
Or4a79 T C 2: 89,551,763 (GRCm39) R231G probably damaging Het
Or5ac25 C T 16: 59,182,129 (GRCm39) G151R probably damaging Het
Or9s23 C T 1: 92,501,544 (GRCm39) T217I probably benign Het
Osbpl7 T C 11: 96,945,382 (GRCm39) S81P probably damaging Het
Pcdha3 T C 18: 37,079,480 (GRCm39) V74A probably damaging Het
Pi4ka T C 16: 17,140,917 (GRCm39) D68G probably benign Het
Prkcz A T 4: 155,377,689 (GRCm39) V79D probably benign Het
Ptpn12 T A 5: 21,202,829 (GRCm39) I650F probably damaging Het
Rb1 A G 14: 73,501,895 (GRCm39) silent Het
Rnaseh2b T G 14: 62,590,980 (GRCm39) Y56* probably null Het
Ryr3 A T 2: 112,477,272 (GRCm39) C4495S probably damaging Het
Tk1 A G 11: 117,715,572 (GRCm39) I45T possibly damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Upp1 T C 11: 9,085,193 (GRCm39) S227P possibly damaging Het
Vmn1r30 T A 6: 58,412,368 (GRCm39) N155Y probably benign Het
Wdr35 C T 12: 9,058,487 (GRCm39) A548V probably damaging Het
Zc3h3 A T 15: 75,681,512 (GRCm39) M523K probably benign Het
Zc3h4 T C 7: 16,168,573 (GRCm39) L894P unknown Het
Zfp790 C T 7: 29,529,192 (GRCm39) H626Y probably benign Het
Zfp873 C T 10: 81,896,876 (GRCm39) H536Y possibly damaging Het
Zmym4 A T 4: 126,763,977 (GRCm39) N1354K probably damaging Het
Zscan20 A G 4: 128,486,275 (GRCm39) S142P 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
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
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'- AGAGAAACAGCGATTTCCCC -3'
(R):5'- CGACATAGAAAGCGCCAGTG -3'

Sequencing Primer
(F):5'- ACAGCGATTTCCCCCTTAAG -3'
(R):5'- GGTGAGATCATTAAAACTGAGTCATC -3'
Posted On 2016-06-21