Incidental Mutation 'R3844:Filip1l'
ID 277295
Institutional Source Beutler Lab
Gene Symbol Filip1l
Ensembl Gene ENSMUSG00000043336
Gene Name filamin A interacting protein 1-like
Synonyms 4631422O05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3844 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 57173640-57393167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57392790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 888 (V888A)
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: V888A

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: V888A

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: V1126A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: V1126A

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: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A T 11: 6,150,032 (GRCm39) R2* probably null Het
Acaca T A 11: 84,255,239 (GRCm39) D1932E probably damaging Het
Adam5 T A 8: 25,303,426 (GRCm39) D167V probably benign Het
Amt C T 9: 108,174,420 (GRCm39) R62C possibly damaging Het
Aqp11 T A 7: 97,387,046 (GRCm39) E50V probably damaging Het
Arid4b C T 13: 14,361,645 (GRCm39) S703L probably damaging Het
Ccl25 T G 8: 4,404,183 (GRCm39) V179G possibly damaging Het
Clk2 A G 3: 89,077,710 (GRCm39) N222S probably benign Het
Col13a1 C T 10: 61,685,988 (GRCm39) G668D unknown Het
Col20a1 A G 2: 180,634,242 (GRCm39) E69G probably damaging Het
Dcc G A 18: 71,959,257 (GRCm39) H172Y probably benign Het
Dock8 T G 19: 25,042,794 (GRCm39) Y125* probably null Het
E2f1 A G 2: 154,402,748 (GRCm39) S340P probably benign Het
Fars2 T C 13: 36,389,084 (GRCm39) F191S probably damaging Het
Fn1 T A 1: 71,648,733 (GRCm39) H1392L possibly damaging Het
Fsip2 C T 2: 82,819,950 (GRCm39) H5228Y possibly damaging Het
Galnt14 A G 17: 74,016,924 (GRCm39) probably null Het
Grm8 A T 6: 27,429,507 (GRCm39) N462K possibly damaging Het
Ireb2 A G 9: 54,799,789 (GRCm39) E410G probably damaging Het
Kdm2b A T 5: 123,072,856 (GRCm39) Y341N probably damaging Het
Kdm7a T A 6: 39,158,513 (GRCm39) I77F probably damaging Het
Klhl11 A T 11: 100,363,133 (GRCm39) M141K possibly damaging Het
Lactbl1 A G 4: 136,365,271 (GRCm39) H541R possibly damaging Het
Mylk A G 16: 34,742,247 (GRCm39) M920V probably benign Het
Or2w1b A G 13: 21,300,233 (GRCm39) T124A possibly damaging Het
Piwil4 T A 9: 14,641,256 (GRCm39) T179S possibly damaging Het
Ranbp2 T C 10: 58,313,717 (GRCm39) L1479P possibly damaging Het
Rpl3l A G 17: 24,952,916 (GRCm39) H292R probably benign Het
Rps6ka4 C A 19: 6,815,171 (GRCm39) E202* probably null Het
Rsph14 T C 10: 74,867,107 (GRCm39) D13G possibly damaging Het
Sri A G 5: 8,114,576 (GRCm39) D177G probably damaging Het
Tenm2 A G 11: 35,938,365 (GRCm39) V1437A probably damaging Het
Tiam2 A G 17: 3,471,926 (GRCm39) R523G probably damaging Het
Tm9sf3 A T 19: 41,205,555 (GRCm39) L561M possibly damaging Het
Tnrc6c G T 11: 117,646,309 (GRCm39) D1417Y probably damaging Het
Ubr4 C T 4: 139,186,437 (GRCm39) S648L probably damaging Het
Zfp827 T A 8: 79,863,248 (GRCm39) L69Q probably 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
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
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'- AGCTCAAGTGTGATAACTACTGAG -3'
(R):5'- GCAGGCAACACATAGTTAGTTCC -3'

Sequencing Primer
(F):5'- GAAGTCCTTACATGCAAGCTGTG -3'
(R):5'- GGCAACACATAGTTAGTTCCAGATAC -3'
Posted On 2015-04-06