Incidental Mutation 'R6452:Filip1l'
ID 519440
Institutional Source Beutler Lab
Gene Symbol Filip1l
Ensembl Gene ENSMUSG00000043336
Gene Name filamin A interacting protein 1-like
Synonyms 4631422O05Rik
MMRRC Submission 044588-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6452 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 57173640-57393167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 57327163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 64 (D64E)
Ref Sequence ENSEMBL: ENSMUSP00000124179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099667] [ENSMUST00000114371] [ENSMUST00000159816]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000099667
AA Change: D64E

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133252
Gene: ENSMUSG00000043336
AA Change: D64E

DomainStartEndE-ValueType
Pfam:CortBP2 55 201 2.6e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114371
SMART Domains Protein: ENSMUSP00000110011
Gene: ENSMUSG00000022748

DomainStartEndE-ValueType
low complexity region 13 29 N/A INTRINSIC
Pfam:CMS1 42 266 7.9e-35 PFAM
Pfam:DEAD 127 234 4e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000159816
AA Change: D64E

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: D64E

DomainStartEndE-ValueType
Pfam:CortBP2 61 246 1.8e-65 PFAM
low complexity region 271 286 N/A INTRINSIC
low complexity region 483 495 N/A INTRINSIC
coiled coil region 609 780 N/A INTRINSIC
low complexity region 827 840 N/A INTRINSIC
low complexity region 1106 1117 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231282
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik A G 13: 119,624,651 (GRCm39) probably benign Het
Alox12e A T 11: 70,210,831 (GRCm39) V296E probably damaging Het
Bmal2 G A 6: 146,724,705 (GRCm39) E400K probably benign Het
Ccdc171 A G 4: 83,782,527 (GRCm39) D1273G probably damaging Het
Cetn3 C T 13: 81,932,797 (GRCm39) R19* probably null Het
Chd6 G T 2: 160,807,418 (GRCm39) P1932H possibly damaging Het
Cimip1 C A 2: 173,369,700 (GRCm39) F71L probably benign Het
Cyp2d34 A T 15: 82,500,290 (GRCm39) I483N probably benign Het
Dglucy T C 12: 100,801,468 (GRCm39) V71A possibly damaging Het
Dhx35 A G 2: 158,673,607 (GRCm39) E346G probably damaging Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fasn G T 11: 120,706,237 (GRCm39) Q1036K probably damaging Het
Fermt3 A T 19: 6,992,105 (GRCm39) F92I probably benign Het
Fnbp1l A G 3: 122,338,198 (GRCm39) F491S probably damaging Het
Fzd2 T G 11: 102,495,811 (GRCm39) V85G probably damaging Het
Gjd4 G A 18: 9,280,457 (GRCm39) T207M possibly damaging Het
Gm32742 T C 9: 51,057,490 (GRCm39) E1096G probably damaging Het
Itgb3 T A 11: 104,524,290 (GRCm39) L142* probably null Het
Kctd21 T A 7: 96,996,869 (GRCm39) I114N probably benign Het
Klra4 G T 6: 130,042,329 (GRCm39) probably null Het
Larp4b T C 13: 9,197,503 (GRCm39) V240A probably damaging Het
Lrriq4 T C 3: 30,709,882 (GRCm39) S409P probably damaging Het
Magel2 A G 7: 62,030,132 (GRCm39) E1012G unknown Het
Mmp24 A T 2: 155,657,673 (GRCm39) D521V possibly damaging Het
Mocos A G 18: 24,828,998 (GRCm39) I768V probably benign Het
Mprip A T 11: 59,643,609 (GRCm39) E553V probably damaging Het
Myh8 A T 11: 67,183,275 (GRCm39) Y718F probably benign Het
Myh8 A T 11: 67,196,565 (GRCm39) I1762F possibly damaging Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Neb A T 2: 52,069,495 (GRCm39) D5775E probably benign Het
Or10h5 T C 17: 33,434,919 (GRCm39) N133S probably benign Het
Or5p66 A G 7: 107,886,100 (GRCm39) S78P probably damaging Het
Pramel19 T C 4: 101,798,640 (GRCm39) Y204H probably benign Het
Prl8a2 T C 13: 27,536,780 (GRCm39) I134T probably benign Het
Qrich2 G A 11: 116,346,714 (GRCm39) T1370I probably benign Het
Rabgap1l A G 1: 160,281,331 (GRCm39) L630P probably damaging Het
Ranbp2 G T 10: 58,313,979 (GRCm39) L1566F probably benign Het
Rnf43 T A 11: 87,623,079 (GRCm39) W727R probably damaging Het
Rundc3b A T 5: 8,629,175 (GRCm39) probably null Het
Samm50 T G 15: 84,088,298 (GRCm39) probably benign Het
Sema4f G A 6: 82,894,643 (GRCm39) A476V probably benign Het
Slc4a4 A G 5: 89,376,839 (GRCm39) N1031S probably benign Het
Slc4a9 A G 18: 36,664,512 (GRCm39) Y390C probably damaging Het
Slco6d1 C A 1: 98,348,937 (GRCm39) Q3K probably benign Het
Smim1 T C 4: 154,108,071 (GRCm39) probably benign Het
Spg7 A G 8: 123,806,162 (GRCm39) K291E possibly damaging Het
Sppl2c A T 11: 104,079,017 (GRCm39) T606S probably benign Het
Tex15 A G 8: 34,062,844 (GRCm39) D758G probably damaging Het
Tigd5 A T 15: 75,783,287 (GRCm39) R550* probably null Het
Tlcd3a G T 11: 76,097,972 (GRCm39) G60* probably null Het
Tnrc18 A C 5: 142,712,767 (GRCm39) L2594R probably damaging Het
Vezf1 A G 11: 87,972,496 (GRCm39) T468A possibly damaging Het
Vmn1r210 T A 13: 23,011,840 (GRCm39) I149F probably damaging Het
Vmn2r96 A C 17: 18,804,117 (GRCm39) T264P probably benign Het
Zfp217 C G 2: 169,961,214 (GRCm39) S371T probably benign Het
Zfp442 G A 2: 150,250,028 (GRCm39) H568Y probably damaging Het
Zfp53 A C 17: 21,729,875 (GRCm39) H636P probably damaging Het
Zscan4d C T 7: 10,895,999 (GRCm39) C457Y probably damaging Het
Other mutations in Filip1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Filip1l APN 16 57,392,711 (GRCm39) nonsense probably null
IGL01393:Filip1l APN 16 57,392,586 (GRCm39) missense probably damaging 1.00
IGL01886:Filip1l APN 16 57,391,613 (GRCm39) missense possibly damaging 0.47
IGL02336:Filip1l APN 16 57,392,096 (GRCm39) splice site probably null
IGL02503:Filip1l APN 16 57,391,938 (GRCm39) missense probably benign 0.00
IGL02608:Filip1l APN 16 57,392,469 (GRCm39) missense probably benign 0.05
IGL02681:Filip1l APN 16 57,392,142 (GRCm39) missense probably benign 0.10
IGL02687:Filip1l APN 16 57,391,490 (GRCm39) missense probably benign 0.30
IGL02982:Filip1l APN 16 57,392,595 (GRCm39) missense probably damaging 1.00
IGL03062:Filip1l APN 16 57,327,167 (GRCm39) missense probably damaging 1.00
R1027:Filip1l UTSW 16 57,390,051 (GRCm39) missense probably benign
R1347:Filip1l UTSW 16 57,391,350 (GRCm39) missense probably damaging 1.00
R1347:Filip1l UTSW 16 57,391,350 (GRCm39) missense probably damaging 1.00
R1384:Filip1l UTSW 16 57,391,652 (GRCm39) missense possibly damaging 0.61
R1655:Filip1l UTSW 16 57,392,214 (GRCm39) missense probably damaging 1.00
R1764:Filip1l UTSW 16 57,390,401 (GRCm39) missense probably damaging 1.00
R1809:Filip1l UTSW 16 57,327,023 (GRCm39) missense probably benign
R1983:Filip1l UTSW 16 57,391,637 (GRCm39) missense probably damaging 0.98
R2504:Filip1l UTSW 16 57,391,410 (GRCm39) missense probably damaging 0.97
R2504:Filip1l UTSW 16 57,391,025 (GRCm39) missense possibly damaging 0.76
R3117:Filip1l UTSW 16 57,327,095 (GRCm39) missense probably benign 0.07
R3844:Filip1l UTSW 16 57,392,790 (GRCm39) missense probably benign 0.15
R3871:Filip1l UTSW 16 57,333,649 (GRCm39) missense probably damaging 0.97
R4231:Filip1l UTSW 16 57,327,131 (GRCm39) missense probably benign
R4391:Filip1l UTSW 16 57,391,155 (GRCm39) nonsense probably null
R4700:Filip1l UTSW 16 57,391,058 (GRCm39) missense probably benign 0.00
R4999:Filip1l UTSW 16 57,390,778 (GRCm39) missense probably benign 0.01
R5002:Filip1l UTSW 16 57,391,466 (GRCm39) missense probably benign 0.01
R5123:Filip1l UTSW 16 57,391,025 (GRCm39) missense possibly damaging 0.76
R5294:Filip1l UTSW 16 57,390,399 (GRCm39) missense possibly damaging 0.59
R5429:Filip1l UTSW 16 57,390,618 (GRCm39) missense probably damaging 0.99
R5811:Filip1l UTSW 16 57,390,657 (GRCm39) missense probably damaging 1.00
R6220:Filip1l UTSW 16 57,390,352 (GRCm39) missense probably benign 0.31
R6678:Filip1l UTSW 16 57,390,333 (GRCm39) missense probably benign 0.00
R6700:Filip1l UTSW 16 57,391,611 (GRCm39) missense possibly damaging 0.86
R7260:Filip1l UTSW 16 57,391,287 (GRCm39) missense probably damaging 1.00
R7327:Filip1l UTSW 16 57,391,300 (GRCm39) missense probably damaging 1.00
R7578:Filip1l UTSW 16 57,333,645 (GRCm39) missense probably damaging 0.99
R7691:Filip1l UTSW 16 57,392,796 (GRCm39) missense probably benign 0.00
R7950:Filip1l UTSW 16 57,390,074 (GRCm39) missense probably damaging 1.00
R8288:Filip1l UTSW 16 57,390,917 (GRCm39) missense probably damaging 1.00
R8334:Filip1l UTSW 16 57,390,510 (GRCm39) missense probably benign 0.18
R8392:Filip1l UTSW 16 57,391,716 (GRCm39) missense probably damaging 1.00
R8742:Filip1l UTSW 16 57,391,593 (GRCm39) missense probably damaging 1.00
R9020:Filip1l UTSW 16 57,391,058 (GRCm39) missense probably benign 0.00
R9157:Filip1l UTSW 16 57,391,980 (GRCm39) missense probably benign 0.04
RF019:Filip1l UTSW 16 57,391,004 (GRCm39) missense probably benign 0.07
Z1088:Filip1l UTSW 16 57,333,768 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAATGCGTTCCAGAAGCAG -3'
(R):5'- CAGGATGACAACCTCCTGTTAG -3'

Sequencing Primer
(F):5'- TGCGTTCCAGAAGCAGCAATG -3'
(R):5'- AGAATTCTGTTTGTGTAGTCAAGC -3'
Posted On 2018-05-24