Incidental Mutation 'R1027:Filip1l'
ID 96902
Institutional Source Beutler Lab
Gene Symbol Filip1l
Ensembl Gene ENSMUSG00000043336
Gene Name filamin A interacting protein 1-like
Synonyms 4631422O05Rik
MMRRC Submission 039129-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1027 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 57173640-57393167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57390051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 213 (E213G)
Ref Sequence ENSEMBL: ENSMUSP00000124179 (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
SMART Domains Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336

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: E213G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: E213G

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 0.1218 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 89.0%
Validation Efficiency 94% (31/33)
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 G T 17: 33,762,737 (GRCm39) R572L probably benign Het
Adamts16 A T 13: 70,915,921 (GRCm39) V838E probably damaging Het
Arfgef3 T C 10: 18,467,123 (GRCm39) R2026G probably benign Het
Arl16 G A 11: 120,356,522 (GRCm39) A159V probably benign Het
Astn1 G T 1: 158,407,849 (GRCm39) R602L probably damaging Het
Dennd1b T C 1: 138,969,700 (GRCm39) V72A probably damaging Het
Gm10985 A C 3: 53,752,674 (GRCm39) Y19S probably damaging Het
Gm4076 T C 13: 85,275,508 (GRCm39) noncoding transcript Het
Herc1 T C 9: 66,363,250 (GRCm39) V2691A probably benign Het
Hid1 A C 11: 115,246,251 (GRCm39) F340V probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kif16b T C 2: 142,696,458 (GRCm39) probably benign Het
Map9 A T 3: 82,284,401 (GRCm39) D325V probably damaging Het
Mtor A G 4: 148,624,456 (GRCm39) M2079V probably benign Het
Nop14 A G 5: 34,801,348 (GRCm39) S608P probably damaging Het
Or5p62 A T 7: 107,771,348 (GRCm39) V201D probably damaging Het
Pcm1 T C 8: 41,746,482 (GRCm39) probably benign Het
Pigs T C 11: 78,227,651 (GRCm39) S272P probably damaging Het
Plekhh1 T C 12: 79,101,256 (GRCm39) probably benign Het
Prkdc A G 16: 15,468,576 (GRCm39) D129G possibly damaging Het
Rab33b T C 3: 51,391,876 (GRCm39) S42P probably damaging Het
Rnf214 C T 9: 45,811,187 (GRCm39) V159I probably benign Het
Sel1l3 A T 5: 53,302,820 (GRCm39) M683K possibly damaging Het
Sntb2 A G 8: 107,718,203 (GRCm39) K304E probably benign Het
Svep1 C A 4: 58,094,084 (GRCm39) S1518I possibly damaging Het
Tg T C 15: 66,544,258 (GRCm39) S76P possibly damaging Het
Ttn A G 2: 76,697,777 (GRCm39) probably benign Het
Zbtb12 CTTCAT CTTCATTCAT 17: 35,115,284 (GRCm39) probably null 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
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
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'- TGCACTACCCAGGGATCATGCTAC -3'
(R):5'- AGCTGGCGATTTTGACTGTCCTC -3'

Sequencing Primer
(F):5'- ttggttttggtttttttgtttttcg -3'
(R):5'- GTGAGCTTCGCCATAATTTTGTC -3'
Posted On 2014-01-05