Incidental Mutation 'R4999:Filip1l'
ID 389772
Institutional Source Beutler Lab
Gene Symbol Filip1l
Ensembl Gene ENSMUSG00000043336
Gene Name filamin A interacting protein 1-like
Synonyms 4631422O05Rik
MMRRC Submission 042593-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4999 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 57173640-57393167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57390778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 455 (Q455H)
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
AA Change: Q217H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: Q217H

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: Q455H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: Q455H

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik A G 1: 16,139,022 (GRCm39) probably null Het
Abca4 T A 3: 121,899,019 (GRCm39) V667D probably damaging Het
Aco1 A G 4: 40,176,507 (GRCm39) I224V probably damaging Het
Arel1 C T 12: 84,978,541 (GRCm39) V364M probably damaging Het
Arhgap42 A G 9: 9,009,435 (GRCm39) V484A probably damaging Het
Asap2 T C 12: 21,302,766 (GRCm39) F681L probably benign Het
Atrn C A 2: 130,817,874 (GRCm39) D809E probably damaging Het
Ccdc70 G A 8: 22,463,266 (GRCm39) V19M possibly damaging Het
Ccp110 G T 7: 118,329,235 (GRCm39) E73* probably null Het
Cfap57 A C 4: 118,453,045 (GRCm39) S553A probably benign Het
Cftr A G 6: 18,221,613 (GRCm39) K212E probably benign Het
Chkb A T 15: 89,312,368 (GRCm39) Y216N probably damaging Het
Cntnap2 G T 6: 45,897,768 (GRCm39) D149Y probably damaging Het
Cpd A G 11: 76,737,048 (GRCm39) probably null Het
Creb3l1 C T 2: 91,813,571 (GRCm39) D489N probably benign Het
Crhbp A G 13: 95,578,753 (GRCm39) F123L probably damaging Het
Cryab T C 9: 50,665,909 (GRCm39) V100A possibly damaging Het
Csmd2 T C 4: 128,415,723 (GRCm39) I2684T probably benign Het
Ctbp2 G T 7: 132,616,378 (GRCm39) P186T possibly damaging Het
Ctnna2 T C 6: 76,892,745 (GRCm39) N814S possibly damaging Het
Dntt T C 19: 41,028,295 (GRCm39) V197A probably damaging Het
Fam135a G A 1: 24,059,758 (GRCm39) A1187V possibly damaging Het
Grm2 T C 9: 106,531,189 (GRCm39) E100G probably damaging Het
Gtf2ird2 G A 5: 134,246,306 (GRCm39) V855M probably damaging Het
Heatr9 A T 11: 83,409,618 (GRCm39) I118N possibly damaging Het
Htra3 T C 5: 35,828,469 (GRCm39) H137R probably benign Het
Iars1 A G 13: 49,863,137 (GRCm39) S530G probably damaging Het
Klhdc4 T A 8: 122,523,342 (GRCm39) M510L probably benign Het
Lipc T C 9: 70,724,013 (GRCm39) T204A probably benign Het
Lrp1 A G 10: 127,389,648 (GRCm39) V3129A probably damaging Het
Macf1 G A 4: 123,388,702 (GRCm39) T1120I probably benign Het
Maco1 A G 4: 134,555,444 (GRCm39) I343T probably benign Het
Map4 T C 9: 109,867,445 (GRCm39) probably benign Het
Mbtps1 A T 8: 120,260,087 (GRCm39) V420D probably damaging Het
Mta2 G T 19: 8,927,747 (GRCm39) D523Y probably benign Het
Mtcl2 C T 2: 156,864,776 (GRCm39) G1144D probably benign Het
Muc4 A G 16: 32,576,670 (GRCm39) probably benign Het
Mug1 C T 6: 121,855,902 (GRCm39) Q965* probably null Het
Myo1e T A 9: 70,260,594 (GRCm39) I584N probably damaging Het
Nolc1 T C 19: 46,067,359 (GRCm39) V80A probably damaging Het
Nop56 G T 2: 130,117,645 (GRCm39) V91L probably benign Het
Or5b99 A T 19: 12,976,583 (GRCm39) M78L probably benign Het
Or5h23 A T 16: 58,906,765 (GRCm39) L27Q probably damaging Het
Or6f2 T C 7: 139,756,933 (GRCm39) V300A probably damaging Het
Osbpl3 T C 6: 50,313,277 (GRCm39) E107G probably damaging Het
Pde3a T A 6: 141,195,751 (GRCm39) C146S probably benign Het
Pfkm A G 15: 98,026,123 (GRCm39) M573V probably damaging Het
Pkd1l2 C T 8: 117,774,113 (GRCm39) probably null Het
Plekhg3 T C 12: 76,612,021 (GRCm39) I374T possibly damaging Het
Ppig T A 2: 69,571,830 (GRCm39) V183D unknown Het
Prom1 T G 5: 44,194,876 (GRCm39) I290L probably benign Het
Rufy3 T A 5: 88,785,085 (GRCm39) M387K probably damaging Het
Selenoo G A 15: 88,978,387 (GRCm39) R270H probably damaging Het
Sema3d T A 5: 12,558,054 (GRCm39) probably null Het
Sema6c C T 3: 95,075,674 (GRCm39) T175I probably damaging Het
Serpina3k T C 12: 104,307,305 (GRCm39) I179T probably damaging Het
Sf3b3 T C 8: 111,567,835 (GRCm39) T207A probably benign Het
Slc22a26 C A 19: 7,779,546 (GRCm39) R90L probably damaging Het
Slitrk5 T C 14: 111,917,648 (GRCm39) V424A probably damaging Het
Smarca2 G T 19: 26,698,255 (GRCm39) E89* probably null Het
Stab2 T A 10: 86,773,773 (GRCm39) S853C probably damaging Het
Stk17b A T 1: 53,800,306 (GRCm39) probably null Het
Taar5 T A 10: 23,847,445 (GRCm39) I281N possibly damaging Het
Tars3 A T 7: 65,308,683 (GRCm39) E284D probably damaging Het
Tbx15 C A 3: 99,223,649 (GRCm39) T279K probably damaging Het
Tfr2 G A 5: 137,585,187 (GRCm39) V740I probably benign Het
Tlr12 T C 4: 128,511,473 (GRCm39) E259G probably benign Het
Tmem145 A G 7: 25,008,459 (GRCm39) T302A probably benign Het
Trappc14 T A 5: 138,259,884 (GRCm39) T391S probably damaging Het
Trpa1 G T 1: 14,946,085 (GRCm39) H1015Q probably benign Het
Tspan8 A G 10: 115,653,534 (GRCm39) Y10C possibly damaging Het
Ttll7 A G 3: 146,600,224 (GRCm39) N44S probably damaging Het
Uba7 T C 9: 107,857,038 (GRCm39) probably null Het
Ube2j2 G A 4: 156,030,841 (GRCm39) M1I probably null Het
Ubr5 C A 15: 38,009,912 (GRCm39) A1022S probably benign Het
Usf1 T G 1: 171,243,331 (GRCm39) I36S probably damaging Het
Vmn1r181 A T 7: 23,683,790 (GRCm39) D85V probably damaging Het
Vmn1r3 A T 4: 3,185,009 (GRCm39) Y99* probably null Het
Vmn1r72 T C 7: 11,404,300 (GRCm39) I49M possibly damaging Het
Vmn2r99 A G 17: 19,582,397 (GRCm39) M1V probably null Het
Vsig10 T A 5: 117,482,040 (GRCm39) V410E probably damaging Het
Zc3h7b A G 15: 81,663,334 (GRCm39) Y442C probably damaging Het
Zfyve26 G T 12: 79,327,159 (GRCm39) Y730* 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
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
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'- GCAGTGCAGAGACCTCAATAAG -3'
(R):5'- TGGACTTGAGTGCCCTCTTG -3'

Sequencing Primer
(F):5'- CTCAATAAGAGGCTAGAGAAAGAGAC -3'
(R):5'- TCAATTAACTTCTCAGTCACTGTTG -3'
Posted On 2016-06-06