Incidental Mutation 'R7578:Filip1l'
ID 586609
Institutional Source Beutler Lab
Gene Symbol Filip1l
Ensembl Gene ENSMUSG00000043336
Gene Name filamin A interacting protein 1-like
Synonyms 4631422O05Rik
MMRRC Submission 045663-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7578 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 57173640-57393167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57333645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 146 (E146G)
Ref Sequence ENSEMBL: ENSMUSP00000124179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099667] [ENSMUST00000114371] [ENSMUST00000159816]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000099667
AA Change: E146G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133252
Gene: ENSMUSG00000043336
AA Change: E146G

DomainStartEndE-ValueType
Pfam:CortBP2 55 201 2.6e-67 PFAM
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: ENSMUST00000159816
AA Change: E146G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: E146G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,120,343 (GRCm39) V165E probably damaging Het
1700025G04Rik T G 1: 151,796,841 (GRCm39) T75P probably benign Het
4930516K23Rik T C 7: 103,708,104 (GRCm39) E235G probably benign Het
Adam15 A G 3: 89,251,499 (GRCm39) C449R probably damaging Het
Adam24 T C 8: 41,133,294 (GRCm39) V254A probably benign Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Aldh1a1 A C 19: 20,595,366 (GRCm39) R98S probably damaging Het
Alg9 A G 9: 50,700,835 (GRCm39) I202V probably benign Het
Anks1b G A 10: 89,885,789 (GRCm39) E162K probably damaging Het
Atp6v1b2 A G 8: 69,556,128 (GRCm39) T268A probably benign Het
Atxn1 C T 13: 45,720,834 (GRCm39) V354I probably benign Het
B3galt1 A G 2: 67,948,896 (GRCm39) T204A probably damaging Het
Catsperb T A 12: 101,554,544 (GRCm39) I746K probably benign Het
Cdh23 G A 10: 60,243,186 (GRCm39) T1063M probably benign Het
Cherp G A 8: 73,218,102 (GRCm39) R543C Het
Cldn20 A G 17: 3,583,274 (GRCm39) D149G probably damaging Het
Clk2 A G 3: 89,083,807 (GRCm39) Q474R probably benign Het
Cp A G 3: 20,043,262 (GRCm39) T1017A possibly damaging Het
Cyp2c39 T C 19: 39,499,400 (GRCm39) L29P probably damaging Het
Ebf3 C T 7: 136,915,261 (GRCm39) V93M probably damaging Het
Eef1akmt1 T A 14: 57,787,328 (GRCm39) M183L probably damaging Het
Fhip1a G T 3: 85,573,205 (GRCm39) L915I probably damaging Het
Fpr-rs3 T C 17: 20,844,293 (GRCm39) S283G possibly damaging Het
Fras1 A T 5: 96,832,296 (GRCm39) Y1543F probably damaging Het
Garin2 T C 12: 78,762,275 (GRCm39) probably null Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gjd3 A G 11: 98,873,301 (GRCm39) V181A probably damaging Het
Gm49368 T A 7: 127,711,430 (GRCm39) C711* probably null Het
Gtf3c2 A G 5: 31,330,341 (GRCm39) S210P probably benign Het
Herc2 A G 7: 55,784,548 (GRCm39) Y1404C probably benign Het
Il22ra2 T A 10: 19,507,372 (GRCm39) D128E probably benign Het
Itgav T A 2: 83,578,219 (GRCm39) D113E probably benign Het
Kcnd3 A G 3: 105,366,933 (GRCm39) M268V probably benign Het
Kirrel3 G T 9: 34,850,408 (GRCm39) G19V probably damaging Het
Klf17 T G 4: 117,617,916 (GRCm39) Y147S possibly damaging Het
Leng1 C T 7: 3,668,382 (GRCm39) R22H probably damaging Het
Lysmd4 T A 7: 66,876,037 (GRCm39) Y233* probably null Het
Lyzl6 A G 11: 103,525,832 (GRCm39) V96A probably benign Het
Mki67 T C 7: 135,302,644 (GRCm39) T797A possibly damaging Het
Nuf2 G T 1: 169,332,097 (GRCm39) H399Q probably benign Het
Nuggc T C 14: 65,885,623 (GRCm39) V766A probably damaging Het
Oas1c A T 5: 120,940,244 (GRCm39) D307E probably damaging Het
Odad2 A T 18: 7,211,593 (GRCm39) D760E probably benign Het
Or10aa3 T A 1: 173,878,266 (GRCm39) M109K possibly damaging Het
Or6c5b T C 10: 129,245,544 (GRCm39) I103T probably damaging Het
P4ha3 T C 7: 99,943,121 (GRCm39) Y169H probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pkhd1 T C 1: 20,417,585 (GRCm39) D2522G probably damaging Het
Prickle2 T C 6: 92,388,271 (GRCm39) D433G probably benign Het
Ptcd3 A G 6: 71,885,691 (GRCm39) S12P probably benign Het
Ptpn23 T A 9: 110,216,676 (GRCm39) Q1060L probably benign Het
Rai14 G T 15: 10,574,914 (GRCm39) N710K probably benign Het
Rai14 C T 15: 10,593,189 (GRCm39) G152R probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Satb2 A G 1: 56,910,943 (GRCm39) V234A probably benign Het
Scg2 T C 1: 79,414,612 (GRCm39) Q37R probably damaging Het
Slc35e3 A T 10: 117,576,484 (GRCm39) S230T probably damaging Het
Slc39a2 T C 14: 52,132,873 (GRCm39) V272A probably damaging Het
Smg7 T A 1: 152,721,181 (GRCm39) Y677F probably damaging Het
Spinkl A G 18: 44,301,213 (GRCm39) Y42H probably damaging Het
Srsf6 T C 2: 162,774,782 (GRCm39) F102L probably benign Het
Sstr3 T C 15: 78,424,717 (GRCm39) E10G probably benign Het
Tekt3 A T 11: 62,985,486 (GRCm39) I431F probably damaging Het
Trio C T 15: 27,855,025 (GRCm39) R778H possibly damaging Het
Ush2a T A 1: 188,282,110 (GRCm39) V1875D probably damaging Het
Vmn2r29 A C 7: 7,234,441 (GRCm39) I815S probably damaging Het
Vmn2r78 A T 7: 86,603,552 (GRCm39) K577* probably null Het
Vps26c A C 16: 94,299,928 (GRCm39) N275K probably damaging Het
Yes1 G A 5: 32,802,430 (GRCm39) R115Q 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
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
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'- GTTGCTATACCTTGCATCTAATCTG -3'
(R):5'- TTTGTAACACTTTGCAGAAGGGG -3'

Sequencing Primer
(F):5'- CACAGAAATATGTAAACGACTGA -3'
(R):5'- CAGAAGGGGCCATTGTTTCATCC -3'
Posted On 2019-10-24