Incidental Mutation 'R1384:Filip1l'
ID 163189
Institutional Source Beutler Lab
Gene Symbol Filip1l
Ensembl Gene ENSMUSG00000043336
Gene Name filamin A interacting protein 1-like
Synonyms 4631422O05Rik
MMRRC Submission 039446-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1384 (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 57391652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 509 (K509E)
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 possibly damaging
Transcript: ENSMUST00000159414
AA Change: K509E

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: K509E

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: K747E

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: K747E

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 0.1614 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency 96% (54/56)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930408O17Rik G A 12: 104,837,451 (GRCm39) noncoding transcript Het
A930033H14Rik A G 10: 69,048,191 (GRCm39) probably benign Het
Abcf3 G A 16: 20,378,053 (GRCm39) G522R probably damaging Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Alg10b A G 15: 90,111,785 (GRCm39) K210E possibly damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
C9 G A 15: 6,488,415 (GRCm39) V90I probably benign Het
Cacna1s A G 1: 136,022,709 (GRCm39) I634V probably benign Het
Catip A G 1: 74,403,522 (GRCm39) D153G probably benign Het
Cpt1c G A 7: 44,610,348 (GRCm39) probably benign Het
Cyp2c23 A G 19: 44,002,102 (GRCm39) S296P probably damaging Het
Cyp2d41-ps G A 15: 82,663,718 (GRCm39) noncoding transcript Het
Edc4 T A 8: 106,619,014 (GRCm39) I1327N probably damaging Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Golga4 A G 9: 118,394,719 (GRCm39) E96G probably damaging Het
Grid2ip T G 5: 143,371,851 (GRCm39) probably null Het
Gucy1a2 A C 9: 3,759,620 (GRCm39) E475D probably damaging Het
Hipk1 A G 3: 103,666,090 (GRCm39) probably benign Het
Ica1 G A 6: 8,742,262 (GRCm39) Q124* probably null Het
Igsf3 T C 3: 101,358,612 (GRCm39) probably null Het
Matn2 A G 15: 34,409,956 (GRCm39) E462G probably benign Het
Men1 T C 19: 6,389,921 (GRCm39) S464P probably benign Het
Mrgpra2b T A 7: 47,113,742 (GRCm39) E330V probably damaging Het
Myoz2 A T 3: 122,819,765 (GRCm39) S65T probably damaging Het
Nckap1 A G 2: 80,364,014 (GRCm39) M492T possibly damaging Het
Nhsl1 A T 10: 18,284,261 (GRCm39) K67N probably null Het
Nostrin A G 2: 69,019,406 (GRCm39) R484G probably benign Het
Or8g22 T A 9: 38,958,200 (GRCm39) I172F possibly damaging Het
Otog T A 7: 45,923,119 (GRCm39) probably benign Het
P2rx5 A G 11: 73,058,716 (GRCm39) Y300C probably damaging Het
Pars2 T C 4: 106,510,913 (GRCm39) F232L possibly damaging Het
Pi4ka A G 16: 17,115,401 (GRCm39) probably benign Het
Pld3 A G 7: 27,237,082 (GRCm39) S266P probably benign Het
Pole G A 5: 110,471,530 (GRCm39) V1425M possibly damaging Het
Prss43 A G 9: 110,656,510 (GRCm39) I66V probably benign Het
Rtn4 A T 11: 29,686,437 (GRCm39) N264I probably damaging Het
Slc45a2 A G 15: 11,025,832 (GRCm39) Y394C probably benign Het
Speer4f2 A T 5: 17,579,447 (GRCm39) N82I probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Strip1 T C 3: 107,534,155 (GRCm39) S160G probably benign Het
Tbx2 A G 11: 85,724,318 (GRCm39) K129R probably benign Het
Tfr2 T C 5: 137,585,082 (GRCm39) probably benign Het
Thap12 T C 7: 98,352,645 (GRCm39) S17P probably damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tspear T C 10: 77,702,166 (GRCm39) F200L probably benign Het
Tspyl5 T A 15: 33,687,526 (GRCm39) R140W possibly damaging Het
Ttn T C 2: 76,606,002 (GRCm39) D18236G probably damaging Het
Upf2 G A 2: 5,965,800 (GRCm39) R140Q unknown Het
Vps4a T A 8: 107,763,276 (GRCm39) I10N possibly 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
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'- ACATGCCAAGATGGAGCTTGCC -3'
(R):5'- TGCATCTGAAGGACAGCACAGAC -3'

Sequencing Primer
(F):5'- GAGCTTGCCAAGTACAAGTTG -3'
(R):5'- ACTGCTCTTTCCAGAGGAATGAG -3'
Posted On 2014-03-17