Incidental Mutation 'R5002:Filip1l'
ID 390014
Institutional Source Beutler Lab
Gene Symbol Filip1l
Ensembl Gene ENSMUSG00000043336
Gene Name filamin A interacting protein 1-like
Synonyms 4631422O05Rik
MMRRC Submission 042596-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5002 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 57173640-57393167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57391466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 447 (Y447H)
Ref Sequence ENSEMBL: ENSMUSP00000124069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114371] [ENSMUST00000159414] [ENSMUST00000159816] [ENSMUST00000232413]
AlphaFold no structure available at present
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 probably benign
Transcript: ENSMUST00000159414
AA Change: Y447H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: Y447H

DomainStartEndE-ValueType
coiled coil region 4 345 N/A INTRINSIC
coiled coil region 371 542 N/A INTRINSIC
low complexity region 589 602 N/A INTRINSIC
low complexity region 868 879 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159816
AA Change: Y685H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: Y685H

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
Predicted Effect probably benign
Transcript: ENSMUST00000232413
Meta Mutation Damage Score 0.0931 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 94% (44/47)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,852,623 (GRCm39) P736S probably damaging Het
Apbb2 A G 5: 66,470,668 (GRCm39) I523T possibly damaging Het
Casq1 T A 1: 172,040,945 (GRCm39) D281V possibly damaging Het
Catsperb T C 12: 101,486,813 (GRCm39) F447L probably benign Het
Cenpe A T 3: 134,952,842 (GRCm39) M1511L probably benign Het
Cep128 T C 12: 91,222,497 (GRCm39) probably null Het
Col6a6 T C 9: 105,663,292 (GRCm39) T82A probably benign Het
Dna2 A G 10: 62,786,621 (GRCm39) D123G probably damaging Het
Ergic2 A G 6: 148,085,656 (GRCm39) I281T probably benign Het
Fcgbp T A 7: 27,785,528 (GRCm39) probably null Het
Flnb T A 14: 7,945,882 (GRCm38) M2429K probably damaging Het
Fn1 T A 1: 71,668,887 (GRCm39) Q686L possibly damaging Het
Gm10644 T C 8: 84,660,216 (GRCm39) D43G possibly damaging Het
Gm10717 A G 9: 3,025,532 (GRCm39) Y39C probably benign Het
Gpx6 A G 13: 21,497,858 (GRCm39) Y43C probably damaging Het
Hhat A T 1: 192,225,498 (GRCm39) F494I probably benign Het
Itga9 C A 9: 118,492,966 (GRCm39) S287* probably null Het
Lrrk1 C A 7: 65,982,111 (GRCm39) G177W probably damaging Het
Ltbp4 GT G 7: 27,027,110 (GRCm39) probably null Het
Ms4a14 T C 19: 11,281,653 (GRCm39) I302V probably benign Het
Nepn A C 10: 52,267,850 (GRCm39) M39L probably benign Het
Nfil3 C A 13: 53,122,712 (GRCm39) R64L probably damaging Het
Ociad1 T C 5: 73,467,659 (GRCm39) V199A possibly damaging Het
Or2r3 C A 6: 42,448,906 (GRCm39) V69L probably benign Het
Or8k3b C A 2: 86,520,429 (GRCm39) V297L possibly damaging Het
Polk A G 13: 96,625,752 (GRCm39) Y431H probably damaging Het
Prss33 C T 17: 24,054,332 (GRCm39) probably benign Het
Semp2l2b G C 10: 21,943,716 (GRCm39) P88R probably damaging Het
Slc12a7 A G 13: 73,911,896 (GRCm39) N4S possibly damaging Het
Slc29a4 A T 5: 142,704,501 (GRCm39) I348F probably damaging Het
Smarce1 T C 11: 99,115,889 (GRCm39) N44S probably damaging Het
Spast C T 17: 74,676,221 (GRCm39) Q344* probably null Het
Stk11ip C A 1: 75,509,187 (GRCm39) probably benign Het
Tas2r131 T C 6: 132,934,114 (GRCm39) I232V probably benign Het
Tesk1 T C 4: 43,444,573 (GRCm39) Y126H probably damaging Het
Tmpo A G 10: 90,999,976 (GRCm39) V164A possibly damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vwc2l T G 1: 70,768,205 (GRCm39) C43G probably damaging Het
Wnk1 G A 6: 119,914,924 (GRCm39) T1626I probably benign Het
Zpld2 T A 4: 133,924,231 (GRCm39) N438I probably benign 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
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
R6452:Filip1l UTSW 16 57,327,163 (GRCm39) missense possibly damaging 0.82
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'- CTCCAGTAAGTCCACAGCAG -3'
(R):5'- TTGCAGAAGGGAGTGGTCTC -3'

Sequencing Primer
(F):5'- TTAAAGAGCTCTCTCAAGAAGTGG -3'
(R):5'- CTCCTTGGAGGTGACATATTAGGTCC -3'
Posted On 2016-06-06