Incidental Mutation 'IGL02336:Filip1l'
ID288866
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Filip1l
Ensembl Gene ENSMUSG00000043336
Gene Namefilamin A interacting protein 1-like
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02336
Quality Score
Status
Chromosome16
Chromosomal Location57353093-57573126 bp(+) (GRCm38)
Type of Mutationsplice site (34933 bp from exon)
DNA Base Change (assembly) A to T at 57571733 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114371] [ENSMUST00000159414] [ENSMUST00000159816] [ENSMUST00000232413]
Predicted Effect probably null
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: T657S

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: T657S

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: T895S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: T895S

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,289,032 V2127A probably damaging Het
Accsl A G 2: 93,865,908 V119A possibly damaging Het
Adamts12 T A 15: 11,311,245 M1196K probably benign Het
Adgre1 T A 17: 57,411,024 C345* probably null Het
Adrb2 T C 18: 62,179,007 E249G probably benign Het
Amdhd1 T A 10: 93,524,429 I423F probably benign Het
Ankhd1 A G 18: 36,594,814 N501S probably damaging Het
Cd180 T A 13: 102,705,313 I289N probably damaging Het
Chst5 T A 8: 111,890,317 I224F probably damaging Het
Cox6a2 A G 7: 128,205,931 I60T possibly damaging Het
Dnajc6 C T 4: 101,614,286 probably null Het
Dpp6 G A 5: 27,469,411 E179K probably benign Het
Fasn G A 11: 120,813,736 T1341I possibly damaging Het
Fat1 C T 8: 44,951,583 T457I probably benign Het
Gje1 A T 10: 14,716,669 I123N probably damaging Het
Gli3 A G 13: 15,720,289 T683A probably damaging Het
Gm29326 C A 7: 29,561,408 noncoding transcript Het
Gm5460 A G 14: 34,043,952 probably benign Het
Hspa4 C T 11: 53,262,373 S739N probably benign Het
Ighv1-42 T A 12: 114,937,265 I67F probably damaging Het
Iqgap1 A G 7: 80,752,293 V408A probably benign Het
Kdm7a A T 6: 39,170,264 W250R probably damaging Het
Kif5a A G 10: 127,242,696 I360T possibly damaging Het
Maml1 T C 11: 50,258,165 N916S probably benign Het
Mier2 A T 10: 79,548,350 probably benign Het
Mpst A T 15: 78,410,274 T69S probably benign Het
Nlk C A 11: 78,586,937 V327F probably damaging Het
Nme5 A T 18: 34,578,677 S4T probably benign Het
Notch2 A G 3: 98,138,395 I1625M possibly damaging Het
Nup210l T C 3: 90,181,552 probably null Het
Oas1d A G 5: 120,919,048 E239G probably damaging Het
Olfm4 T C 14: 80,006,321 S110P probably damaging Het
Olfr589 T C 7: 103,155,565 M61V probably benign Het
Parn T A 16: 13,566,703 I499F probably damaging Het
Ppargc1a G A 5: 51,495,726 Q165* probably null Het
Ppp1r12b T A 1: 134,886,506 E353V probably damaging Het
Prkdc A G 16: 15,785,978 Q2952R possibly damaging Het
Prkdc G T 16: 15,785,979 Q2952H probably benign Het
Qars G T 9: 108,514,986 E143* probably null Het
Reln A G 5: 21,929,134 Y2599H probably damaging Het
Rnf123 T C 9: 108,061,842 E803G probably damaging Het
Rnf141 G A 7: 110,837,198 Q8* probably null Het
Rnf167 A G 11: 70,650,126 I193V probably benign Het
Rprd2 A T 3: 95,787,310 M137K probably benign Het
Rtf1 T G 2: 119,728,745 probably benign Het
Serpina1d T A 12: 103,764,796 R308* probably null Het
Smg7 T C 1: 152,843,279 Y899C probably benign Het
Tbr1 C A 2: 61,804,992 H95Q possibly damaging Het
Tcf19 A T 17: 35,514,483 probably null Het
Timm44 T A 8: 4,267,692 R210W probably damaging Het
Trnau1ap C A 4: 132,314,020 E194* probably null Het
Trp63 G A 16: 25,820,442 G127S probably damaging Het
Trrap C T 5: 144,798,390 A989V probably benign Het
Ttn T C 2: 76,769,982 D18988G probably damaging Het
Tubb4b-ps1 T A 5: 7,179,952 probably benign Het
Vmn1r77 G A 7: 12,041,296 probably null Het
Vmn1r80 A G 7: 12,193,254 Y97C probably benign Het
Vmn2r77 G A 7: 86,802,016 C370Y probably damaging Het
Xntrpc C A 7: 102,084,285 A147D probably damaging Het
Zc3h4 C T 7: 16,425,777 S424F unknown Het
Zcwpw1 T A 5: 137,810,114 S275T probably damaging Het
Zfp979 C T 4: 147,615,351 C44Y probably damaging Het
Zscan20 T C 4: 128,585,794 H968R probably damaging Het
Zswim3 T C 2: 164,820,377 V259A probably damaging Het
Zzz3 T G 3: 152,428,059 D251E possibly damaging Het
Other mutations in Filip1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Filip1l APN 16 57572348 nonsense probably null
IGL01393:Filip1l APN 16 57572223 missense probably damaging 1.00
IGL01886:Filip1l APN 16 57571250 missense possibly damaging 0.47
IGL02503:Filip1l APN 16 57571575 missense probably benign 0.00
IGL02608:Filip1l APN 16 57572106 missense probably benign 0.05
IGL02681:Filip1l APN 16 57571779 missense probably benign 0.10
IGL02687:Filip1l APN 16 57571127 missense probably benign 0.30
IGL02982:Filip1l APN 16 57572232 missense probably damaging 1.00
IGL03062:Filip1l APN 16 57506804 missense probably damaging 1.00
R1027:Filip1l UTSW 16 57569688 missense probably benign
R1347:Filip1l UTSW 16 57570987 missense probably damaging 1.00
R1347:Filip1l UTSW 16 57570987 missense probably damaging 1.00
R1384:Filip1l UTSW 16 57571289 missense possibly damaging 0.61
R1655:Filip1l UTSW 16 57571851 missense probably damaging 1.00
R1764:Filip1l UTSW 16 57570038 missense probably damaging 1.00
R1809:Filip1l UTSW 16 57506660 missense probably benign
R1983:Filip1l UTSW 16 57571274 missense probably damaging 0.98
R2504:Filip1l UTSW 16 57570662 missense possibly damaging 0.76
R2504:Filip1l UTSW 16 57571047 missense probably damaging 0.97
R3117:Filip1l UTSW 16 57506732 missense probably benign 0.07
R3844:Filip1l UTSW 16 57572427 missense probably benign 0.15
R3871:Filip1l UTSW 16 57513286 missense probably damaging 0.97
R4231:Filip1l UTSW 16 57506768 missense probably benign
R4391:Filip1l UTSW 16 57570792 nonsense probably null
R4700:Filip1l UTSW 16 57570695 missense probably benign 0.00
R4999:Filip1l UTSW 16 57570415 missense probably benign 0.01
R5002:Filip1l UTSW 16 57571103 missense probably benign 0.01
R5123:Filip1l UTSW 16 57570662 missense possibly damaging 0.76
R5294:Filip1l UTSW 16 57570036 missense possibly damaging 0.59
R5429:Filip1l UTSW 16 57570255 missense probably damaging 0.99
R5811:Filip1l UTSW 16 57570294 missense probably damaging 1.00
R6220:Filip1l UTSW 16 57569989 missense probably benign 0.31
R6452:Filip1l UTSW 16 57506800 missense possibly damaging 0.82
R6678:Filip1l UTSW 16 57569970 missense probably benign 0.00
R6700:Filip1l UTSW 16 57571248 missense possibly damaging 0.86
R7260:Filip1l UTSW 16 57570924 missense probably damaging 1.00
R7327:Filip1l UTSW 16 57570937 missense probably damaging 1.00
R7578:Filip1l UTSW 16 57513282 missense probably damaging 0.99
R7691:Filip1l UTSW 16 57572433 missense probably benign 0.00
R7950:Filip1l UTSW 16 57569711 missense probably damaging 1.00
R8288:Filip1l UTSW 16 57570554 missense probably damaging 1.00
R8334:Filip1l UTSW 16 57570147 missense probably benign 0.18
R8392:Filip1l UTSW 16 57571353 missense probably damaging 1.00
RF019:Filip1l UTSW 16 57570641 missense probably benign 0.07
Z1088:Filip1l UTSW 16 57513405 missense probably damaging 1.00
Posted On2015-04-16