Incidental Mutation 'R7260:Filip1l'
ID 564572
Institutional Source Beutler Lab
Gene Symbol Filip1l
Ensembl Gene ENSMUSG00000043336
Gene Name filamin A interacting protein 1-like
Synonyms 4631422O05Rik
MMRRC Submission 045352-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7260 (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 57391287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 625 (E625G)
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: E387G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: E387G

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: E625G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: E625G

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 probably benign
Transcript: ENSMUST00000232413
Meta Mutation Damage Score 0.1589 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (78/80)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A G 10: 28,849,882 (GRCm39) S293P probably benign Het
Actn2 T C 13: 12,291,376 (GRCm39) N676S probably benign Het
Amfr C T 8: 94,702,776 (GRCm39) M463I possibly damaging Het
Ankdd1a G T 9: 65,411,834 (GRCm39) A325D probably damaging Het
Apba2 A G 7: 64,389,493 (GRCm39) D463G probably damaging Het
Arid5b A G 10: 67,933,637 (GRCm39) V755A probably damaging Het
Boc A T 16: 44,310,533 (GRCm39) F796I Het
Ccnt1 G A 15: 98,463,005 (GRCm39) Q56* probably null Het
Cd248 T A 19: 5,119,383 (GRCm39) Y410* probably null Het
Chd9 T A 8: 91,721,171 (GRCm39) N986K unknown Het
Col6a6 T C 9: 105,661,168 (GRCm39) T314A probably benign Het
Cpped1 A G 16: 11,646,327 (GRCm39) F142L possibly damaging Het
Csmd1 C T 8: 16,050,574 (GRCm39) A2221T probably damaging Het
Cyp2c69 C A 19: 39,831,344 (GRCm39) V490L probably benign Het
Cyrib A T 15: 63,829,438 (GRCm39) F23L possibly damaging Het
Dcst2 T C 3: 89,273,593 (GRCm39) F157S probably damaging Het
Ddx54 G T 5: 120,764,985 (GRCm39) R788L probably benign Het
Dnah1 T C 14: 30,991,343 (GRCm39) Y3145C probably damaging Het
Dnah14 A T 1: 181,534,309 (GRCm39) R2320W probably damaging Het
Dnai3 T A 3: 145,752,295 (GRCm39) M794L probably benign Het
Emilin2 T C 17: 71,581,785 (GRCm39) T314A probably benign Het
Eml2 A G 7: 18,934,515 (GRCm39) S405G probably benign Het
Ephb2 A G 4: 136,498,885 (GRCm39) F65L probably damaging Het
Fbn2 T C 18: 58,199,188 (GRCm39) D1360G probably benign Het
Fbxo22 A G 9: 55,125,754 (GRCm39) T206A probably benign Het
Gen1 A C 12: 11,306,849 (GRCm39) M172R probably damaging Het
Gk5 A G 9: 96,001,663 (GRCm39) K54E probably benign Het
Glis3 T C 19: 28,508,802 (GRCm39) E394G probably benign Het
Helq T A 5: 100,939,793 (GRCm39) E373D probably damaging Het
Ighv1-74 A G 12: 115,766,372 (GRCm39) F83L probably benign Het
Ints15 A G 5: 143,297,594 (GRCm39) V151A probably benign Het
Iqcn T C 8: 71,161,397 (GRCm39) Y197H probably benign Het
Kdm4d T C 9: 14,374,454 (GRCm39) D468G probably benign Het
Kif20b A G 19: 34,927,610 (GRCm39) I957M probably damaging Het
Ldhal6b A G 17: 5,468,535 (GRCm39) F133S possibly damaging Het
Loxhd1 T C 18: 77,420,338 (GRCm39) Y321H possibly damaging Het
Ltbp1 A T 17: 75,373,139 (GRCm39) M261L probably benign Het
Mical2 A T 7: 111,919,001 (GRCm39) Q430L probably benign Het
Mroh4 A T 15: 74,479,978 (GRCm39) N885K possibly damaging Het
Ms4a7 A G 19: 11,299,710 (GRCm39) Y231H probably damaging Het
Msh2 G T 17: 88,025,047 (GRCm39) V642F probably damaging Het
Muc5b G T 7: 141,396,385 (GRCm39) A166S unknown Het
Myo18b T C 5: 112,923,154 (GRCm39) I1868V probably benign Het
Nfatc3 T C 8: 106,835,578 (GRCm39) S975P probably benign Het
Oacyl T C 18: 65,831,438 (GRCm39) L25P probably damaging Het
Or12e10 A G 2: 87,640,731 (GRCm39) N189S probably damaging Het
Or5b109 T C 19: 13,212,388 (GRCm39) F258S probably damaging Het
Or5w15 T C 2: 87,568,852 (GRCm39) probably null Het
Or6c69 T A 10: 129,748,156 (GRCm39) probably benign Het
Or8a1 T A 9: 37,642,049 (GRCm39) I77F probably damaging Het
Patj A G 4: 98,304,970 (GRCm39) I275V possibly damaging Het
Pdcd11 G A 19: 47,117,673 (GRCm39) R1674Q possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phkb T A 8: 86,604,759 (GRCm39) Y55N probably benign Het
Pias4 A G 10: 80,993,302 (GRCm39) V207A possibly damaging Het
Plxna4 C A 6: 32,216,455 (GRCm39) R540L possibly damaging Het
Psapl1 G A 5: 36,362,556 (GRCm39) V383M probably benign Het
Rars1 C A 11: 35,725,281 (GRCm39) A10S probably benign Het
Rhobtb1 A T 10: 69,106,610 (GRCm39) K454* probably null Het
Rmnd1 A T 10: 4,364,803 (GRCm39) probably null Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Rngtt T C 4: 33,356,176 (GRCm39) S338P possibly damaging Het
Sh3bgr A G 16: 96,025,681 (GRCm39) E189G unknown Het
Slc30a3 G A 5: 31,245,690 (GRCm39) T281I probably damaging Het
Smok3c T A 5: 138,063,885 (GRCm39) D457E possibly damaging Het
Stard9 C A 2: 120,537,419 (GRCm39) Q4274K possibly damaging Het
Syne2 G T 12: 75,991,853 (GRCm39) L1938F probably damaging Het
Tmem70 C A 1: 16,735,590 (GRCm39) T20K possibly damaging Het
Tnrc6a A G 7: 122,785,813 (GRCm39) E1502G probably benign Het
Tpp1 A T 7: 105,396,704 (GRCm39) S438T probably benign Het
Tubb2a T A 13: 34,259,397 (GRCm39) Q131L probably damaging Het
Ube2v1 A G 2: 167,471,114 (GRCm39) S26P probably benign Het
Unc13a G T 8: 72,113,229 (GRCm39) S207R possibly damaging Het
Usp35 T G 7: 96,969,286 (GRCm39) D362A probably damaging Het
Utp20 A G 10: 88,587,334 (GRCm39) I2487T probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r117 T A 17: 23,694,359 (GRCm39) H496L probably benign Het
Vmn2r92 C T 17: 18,387,138 (GRCm39) A159V probably damaging Het
Wiz T C 17: 32,578,085 (GRCm39) K467E probably damaging Het
Zfp534 T C 4: 147,759,461 (GRCm39) T403A probably benign Het
Zswim5 T C 4: 116,819,843 (GRCm39) L416P 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
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
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'- GGCACTCAAGTCCAAAACTG -3'
(R):5'- AAGCTCCATCTTGGCATGTTC -3'

Sequencing Primer
(F):5'- TCAAGTCCAAAACTGATGCAGAAG -3'
(R):5'- ATGTTCCAGCTCCTGAGACAG -3'
Posted On 2019-06-26