Incidental Mutation 'R5429:Filip1l'
ID 427094
Institutional Source Beutler Lab
Gene Symbol Filip1l
Ensembl Gene ENSMUSG00000043336
Gene Name filamin A interacting protein 1-like
Synonyms 4631422O05Rik
MMRRC Submission 042995-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5429 (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 57390618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 402 (E402V)
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 damaging
Transcript: ENSMUST00000159414
AA Change: E164V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: E164V

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 damaging
Transcript: ENSMUST00000159816
AA Change: E402V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: E402V

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T G 7: 75,252,652 (GRCm39) S261A possibly damaging Het
Ankrd34a G A 3: 96,504,837 (GRCm39) G14R probably damaging Het
Auts2 G A 5: 131,501,173 (GRCm39) T289M probably damaging Het
Btaf1 G A 19: 36,972,257 (GRCm39) V1331I possibly damaging Het
Ciz1 T A 2: 32,266,055 (GRCm39) I609K possibly damaging Het
Clca3b C T 3: 144,552,220 (GRCm39) V154I probably damaging Het
Csde1 A G 3: 102,960,157 (GRCm39) T564A possibly damaging Het
Csrnp2 A G 15: 100,379,935 (GRCm39) V452A probably benign Het
Ctnnd1 C T 2: 84,447,133 (GRCm39) V371M probably damaging Het
Dock6 T C 9: 21,744,177 (GRCm39) D677G probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ghr G A 15: 3,418,157 (GRCm39) Q37* probably null Het
Gm10770 C T 2: 150,021,343 (GRCm39) R58H probably benign Het
Gm12789 T C 4: 101,847,158 (GRCm39) Y148H possibly damaging Het
Herc4 T A 10: 63,110,792 (GRCm39) N234K probably benign Het
Itih3 A G 14: 30,645,478 (GRCm39) V10A probably benign Het
Kat14 T A 2: 144,235,243 (GRCm39) D234E probably benign Het
Kif13a A G 13: 46,926,245 (GRCm39) probably null Het
Kif2b A G 11: 91,468,055 (GRCm39) V76A probably benign Het
Mboat1 A G 13: 30,403,650 (GRCm39) T150A probably benign Het
Mfsd1 T A 3: 67,507,293 (GRCm39) L398H probably damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nfx1 T C 4: 41,004,343 (GRCm39) C705R probably damaging Het
Or13a27 A G 7: 139,925,186 (GRCm39) F239L possibly damaging Het
Or2ak5 T A 11: 58,611,350 (GRCm39) N175Y probably damaging Het
Pcdh10 T C 3: 45,338,635 (GRCm39) S931P probably benign Het
Pdpk1 T C 17: 24,310,534 (GRCm39) E205G probably benign Het
Ppp2r2a A T 14: 67,261,205 (GRCm39) F172I probably damaging Het
Ppp2r5e T A 12: 75,500,537 (GRCm39) D452V probably damaging Het
Rims2 A T 15: 39,208,751 (GRCm39) T185S probably damaging Het
Rpusd4 T C 9: 35,183,898 (GRCm39) V209A probably benign Het
Safb T C 17: 56,895,822 (GRCm39) V20A probably benign Het
Scaf8 C A 17: 3,247,385 (GRCm39) P903T probably benign Het
Slc30a7 A G 3: 115,800,574 (GRCm39) S31P possibly damaging Het
Slc9b1 T C 3: 135,079,024 (GRCm39) probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Tbc1d32 T C 10: 55,904,089 (GRCm39) D1226G probably damaging Het
Tlnrd1 G T 7: 83,531,522 (GRCm39) T303N probably damaging Het
Tmc1 G T 19: 20,766,986 (GRCm39) N738K possibly damaging Het
Tmem41a A G 16: 21,753,606 (GRCm39) I255T probably benign Het
Trim7 G A 11: 48,740,782 (GRCm39) C293Y probably damaging Het
Trpc6 C T 9: 8,634,075 (GRCm39) Q385* probably null Het
Ttc39b A G 4: 83,162,190 (GRCm39) I330T possibly damaging Het
Vil1 C T 1: 74,471,490 (GRCm39) T757I probably benign Het
Zfp462 T C 4: 55,060,077 (GRCm39) V1201A probably damaging Het
Zfp473 T A 7: 44,382,272 (GRCm39) E686V possibly damaging Het
Zfp998 G A 13: 66,579,887 (GRCm39) P199S 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
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
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'- TCAGTCGGCAAATTGATGAGTTAG -3'
(R):5'- CTCCAGCTCTTCAGACAATTGC -3'

Sequencing Primer
(F):5'- CAACAGGTCTTTAAGAAAAGCCG -3'
(R):5'- ACAATTGCTTTGTGGTCATCTTTTC -3'
Posted On 2016-09-01