Incidental Mutation 'R4879:Aftph'
ID 439461
Institutional Source Beutler Lab
Gene Symbol Aftph
Ensembl Gene ENSMUSG00000049659
Gene Name aftiphilin
Synonyms 9130023F12Rik
MMRRC Submission 042488-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.835) question?
Stock # R4879 (G1)
Quality Score 135
Status Validated
Chromosome 11
Chromosomal Location 20635084-20691589 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 20648311 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 null
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 probably null
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 null
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 silent
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 null
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 0.9497 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 97% (86/89)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,110,526 (GRCm39) Y541F probably damaging Het
Acot12 T A 13: 91,911,083 (GRCm39) V136E probably benign Het
Ambra1 C T 2: 91,603,039 (GRCm39) probably benign Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ano9 T C 7: 140,690,415 (GRCm39) D73G probably benign Het
Asap3 G A 4: 135,969,975 (GRCm39) D778N probably benign Het
Atp8a2 G T 14: 60,245,918 (GRCm39) Y591* probably null Het
Blk T C 14: 63,613,414 (GRCm39) T365A probably benign Het
C4b G T 17: 34,962,621 (GRCm39) S27Y probably damaging Het
C6 G T 15: 4,833,129 (GRCm39) probably null Het
Ccdc33 T A 9: 57,974,839 (GRCm39) I345F possibly damaging Het
Cetn3 T A 13: 81,940,268 (GRCm39) probably benign Het
Cntn3 T A 6: 102,244,389 (GRCm39) I387L possibly damaging Het
Cog8 A G 8: 107,782,984 (GRCm39) C102R probably damaging Het
Cspg4b T C 13: 113,456,321 (GRCm39) I789T probably benign Het
Cyp2c55 CA C 19: 39,030,522 (GRCm39) probably null Het
Defa40 T A 8: 21,740,380 (GRCm39) L62Q probably damaging Het
Dmxl1 C T 18: 50,022,534 (GRCm39) A1624V probably damaging Het
Dnah1 T G 14: 31,022,705 (GRCm39) E1144A possibly damaging Het
Dnah12 T A 14: 26,439,201 (GRCm39) probably null Het
Dnah2 G A 11: 69,367,517 (GRCm39) T1794I probably damaging Het
Entrep1 T C 19: 23,953,019 (GRCm39) probably null Het
Erbin A T 13: 103,971,282 (GRCm39) M778K probably benign Het
Fbxw10 G T 11: 62,738,573 (GRCm39) A156S probably damaging Het
Flnc T A 6: 29,460,805 (GRCm39) F2632Y probably damaging Het
Frmd4a A G 2: 4,534,628 (GRCm39) K160E probably damaging Het
Glipr1l2 A G 10: 111,943,029 (GRCm39) K295E probably benign Het
Herc1 T A 9: 66,370,119 (GRCm39) C465* probably null Het
Hoxb4 A G 11: 96,211,014 (GRCm39) I205V probably damaging Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Il36a A G 2: 24,106,032 (GRCm39) N29S probably benign Het
Ilk A G 7: 105,391,011 (GRCm39) S292G probably benign Het
Itgb5 G C 16: 33,696,348 (GRCm39) G180R probably damaging Het
Josd1-ps T C 7: 27,648,768 (GRCm39) noncoding transcript Het
Kcnip4 T C 5: 48,567,207 (GRCm39) D120G possibly damaging Het
Kin A G 2: 10,085,455 (GRCm39) D5G probably benign Het
Lrrtm2 C A 18: 35,346,372 (GRCm39) G310V probably damaging Het
Med1 T C 11: 98,046,186 (GRCm39) probably benign Het
Mepce C A 5: 137,783,544 (GRCm39) probably benign Het
Nckipsd T A 9: 108,691,114 (GRCm39) probably benign Het
Notch3 T A 17: 32,366,937 (GRCm39) Q866L probably benign Het
Or52b4 A T 7: 102,183,962 (GRCm39) T3S probably benign Het
Or5l14 A T 2: 87,793,040 (GRCm39) H65Q possibly damaging Het
Or8k20 A T 2: 86,106,107 (GRCm39) C241* probably null Het
Orai1 T C 5: 123,149,894 (GRCm39) probably benign Het
Pate12 G A 9: 36,344,089 (GRCm39) C24Y probably damaging Het
Pcdhb8 A T 18: 37,489,219 (GRCm39) E299V probably damaging Het
Pcnx4 G A 12: 72,613,959 (GRCm39) D635N probably damaging Het
Pex5 T C 6: 124,375,322 (GRCm39) I567V probably benign Het
Ppfibp2 T C 7: 107,328,390 (GRCm39) S485P probably benign Het
Sbno1 T C 5: 124,542,087 (GRCm39) Y356C probably damaging Het
Sdcbp T C 4: 6,381,056 (GRCm39) I67T possibly damaging Het
Slc5a7 A G 17: 54,583,679 (GRCm39) I537T probably benign Het
Slc66a1 A T 4: 139,029,095 (GRCm39) probably null Het
Smad4 A G 18: 73,774,974 (GRCm39) C442R probably damaging Het
Smpd5 A G 15: 76,179,070 (GRCm39) H146R possibly damaging Het
Snai2 A G 16: 14,524,605 (GRCm39) Y37C probably benign Het
Snapc4 C T 2: 26,256,004 (GRCm39) S840N possibly damaging Het
Stpg2 T C 3: 138,921,134 (GRCm39) I113T probably benign Het
Tbc1d32 T C 10: 55,925,125 (GRCm39) probably null Het
Tfg A T 16: 56,521,520 (GRCm39) S39R probably damaging Het
Thsd7b T A 1: 130,116,236 (GRCm39) S1330T possibly damaging Het
Tnfaip3 T C 10: 18,881,321 (GRCm39) T322A probably benign Het
Tpra1 A G 6: 88,888,691 (GRCm39) Y291C probably damaging Het
Trcg1 A G 9: 57,154,003 (GRCm39) D658G probably damaging Het
Trip4 C T 9: 65,782,304 (GRCm39) V143I probably benign Het
Trp53bp1 T C 2: 121,033,084 (GRCm39) K1691E probably damaging Het
Ttc8 T A 12: 98,908,562 (GRCm39) M77K possibly damaging Het
Tubb2a A T 13: 34,258,572 (GRCm39) M406K probably benign Het
Txnrd1 T A 10: 82,717,751 (GRCm39) probably null Het
Ugt2a3 C A 5: 87,479,144 (GRCm39) R268L probably benign Het
Usp34 T G 11: 23,323,410 (GRCm39) M982R possibly damaging Het
Vmn2r43 T A 7: 8,258,102 (GRCm39) K370N probably benign Het
Vopp1 A T 6: 57,739,355 (GRCm39) probably benign Het
Vps11 A C 9: 44,264,597 (GRCm39) C660G probably benign Het
Wnk1 T C 6: 119,926,338 (GRCm39) H1137R probably damaging Het
Wtap A G 17: 13,188,322 (GRCm39) Y193H probably damaging Het
Zfp462 T A 4: 55,009,444 (GRCm39) V470D 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
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'- AATGGCTGGTATCTTGAGCAATTG -3'
(R):5'- ACTAGACCTTGGGCTCTGTTC -3'

Sequencing Primer
(F):5'- GCAATTGCTATTTAGAAAGAAAGCC -3'
(R):5'- GACCATCTCGAATGAGGTATTTAGTG -3'
Posted On 2016-10-31