Incidental Mutation 'R2024:Flg'
ID220228
Institutional Source Beutler Lab
Gene Symbol Flg
Ensembl Gene ENSMUSG00000102439
Gene Namefilaggrin
Synonymsft, fillagrin, profilaggrin
MMRRC Submission 040033-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.388) question?
Stock #R2024 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location93273523-93293686 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 93279415 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 58 (M58K)
Ref Sequence ENSEMBL: ENSMUSP00000142003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178008] [ENSMUST00000178695] [ENSMUST00000178752] [ENSMUST00000180308]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122125
Predicted Effect probably damaging
Transcript: ENSMUST00000148311
AA Change: M58K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141768
Gene: ENSMUSG00000081977
AA Change: M58K

DomainStartEndE-ValueType
Pfam:S_100 4 47 1.1e-15 PFAM
low complexity region 72 88 N/A INTRINSIC
low complexity region 111 117 N/A INTRINSIC
low complexity region 288 337 N/A INTRINSIC
low complexity region 339 357 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178008
SMART Domains Protein: ENSMUSP00000141981
Gene: ENSMUSG00000102439

DomainStartEndE-ValueType
low complexity region 10 63 N/A INTRINSIC
low complexity region 91 106 N/A INTRINSIC
low complexity region 112 132 N/A INTRINSIC
low complexity region 141 168 N/A INTRINSIC
low complexity region 173 204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178695
SMART Domains Protein: ENSMUSP00000141392
Gene: ENSMUSG00000102439

DomainStartEndE-ValueType
low complexity region 15 66 N/A INTRINSIC
low complexity region 94 109 N/A INTRINSIC
low complexity region 115 135 N/A INTRINSIC
low complexity region 144 207 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178752
SMART Domains Protein: ENSMUSP00000141273
Gene: ENSMUSG00000102439

DomainStartEndE-ValueType
low complexity region 10 59 N/A INTRINSIC
low complexity region 87 102 N/A INTRINSIC
low complexity region 108 128 N/A INTRINSIC
low complexity region 137 200 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000180308
AA Change: M58K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142003
Gene: ENSMUSG00000102439
AA Change: M58K

DomainStartEndE-ValueType
Pfam:S_100 4 47 1.1e-15 PFAM
low complexity region 72 88 N/A INTRINSIC
low complexity region 111 117 N/A INTRINSIC
low complexity region 288 337 N/A INTRINSIC
low complexity region 339 357 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216295
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 90.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 A G 15: 96,361,799 D280G probably damaging Het
Azi2 C T 9: 118,049,322 R77* probably null Het
Chd8 T C 14: 52,231,493 D556G probably benign Het
Cit T C 5: 115,947,924 M849T probably damaging Het
Cit T C 5: 116,005,840 S1923P probably damaging Het
Col17a1 T A 19: 47,650,746 H1120L probably benign Het
Col6a5 G T 9: 105,936,994 H606Q unknown Het
Dnajc2 A C 5: 21,776,790 H45Q probably damaging Het
Dpp6 A G 5: 27,709,459 D514G possibly damaging Het
Dync2h1 A G 9: 7,129,062 S1818P probably damaging Het
Efemp1 A T 11: 28,914,696 Y250F possibly damaging Het
Emc1 G A 4: 139,360,946 E342K possibly damaging Het
Fam214a A G 9: 75,010,390 D757G probably damaging Het
Fam3c T C 6: 22,329,593 D45G probably benign Het
Fchsd2 A C 7: 101,198,533 D210A possibly damaging Het
Gabra5 G A 7: 57,488,950 R117C probably damaging Het
Gm6741 G A 17: 91,236,881 S24N probably benign Het
Grin2a T C 16: 9,644,243 D675G possibly damaging Het
Hectd4 T G 5: 121,281,918 V642G possibly damaging Het
Herc6 C T 6: 57,583,332 T119M probably benign Het
Hjurp GT GTT 1: 88,266,524 probably null Het
Hmgcs2 T C 3: 98,299,214 S371P probably damaging Het
Idua C T 5: 108,680,734 A271V probably damaging Het
Inpp5d T A 1: 87,695,350 C125* probably null Het
Krt14 C T 11: 100,207,218 G80R unknown Het
Lama5 T C 2: 180,179,130 Y3176C probably benign Het
Lce1k C T 3: 92,806,502 C125Y unknown Het
Lig4 A T 8: 9,972,436 L448Q probably damaging Het
Macf1 C T 4: 123,371,918 A4821T probably damaging Het
Meioc C T 11: 102,675,358 A600V probably benign Het
Mepe T C 5: 104,327,091 S13P possibly damaging Het
Mms22l A G 4: 24,588,365 Y999C probably damaging Het
Ncbp3 T A 11: 73,053,520 M116K possibly damaging Het
Ndufa10 A G 1: 92,439,892 Y339H probably damaging Het
Nkx3-1 T C 14: 69,190,817 I38T probably damaging Het
Nup155 A T 15: 8,157,760 H1391L probably damaging Het
Olfr1299 T A 2: 111,664,823 M199K possibly damaging Het
Padi6 T G 4: 140,728,968 I572L possibly damaging Het
Pdss2 A T 10: 43,393,875 N238I possibly damaging Het
Pkd1l2 A G 8: 117,019,533 V1906A probably benign Het
Pom121 T C 5: 135,381,550 probably benign Het
Psmd9 T C 5: 123,241,862 F115L probably damaging Het
Ptch1 T G 13: 63,524,959 E944A probably benign Het
Rai1 T C 11: 60,185,589 F160L probably damaging Het
Rhbdl2 A T 4: 123,826,872 R234S probably damaging Het
Rnase2a T A 14: 51,255,788 Y40F probably damaging Het
Setd2 T C 9: 110,549,133 V672A possibly damaging Het
Sgpp2 A G 1: 78,417,220 I287V probably benign Het
Sh3pxd2a T C 19: 47,267,264 E1033G probably benign Het
Slc5a9 G A 4: 111,890,531 T284I probably damaging Het
Slfn9 A G 11: 82,981,681 L743P probably damaging Het
Smchd1 T A 17: 71,370,928 N1473I probably benign Het
Stx1b A T 7: 127,815,403 D16E probably benign Het
Tectb T C 19: 55,181,929 F71L probably damaging Het
Tmem220 T C 11: 67,034,153 I138T possibly damaging Het
Tmtc4 T C 14: 122,921,265 N682S probably benign Het
Tnc A G 4: 63,964,621 V1921A probably damaging Het
Ubn1 T G 16: 5,064,623 L316W probably damaging Het
Vwa5a T C 9: 38,736,061 S579P probably damaging Het
Xdh A G 17: 73,921,305 L367P possibly damaging Het
Zfp280b T C 10: 76,038,494 L69S probably damaging Het
Zfp990 A C 4: 145,537,404 Y324S possibly damaging Het
Other mutations in Flg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Flg APN 3 93279599 missense probably benign 0.41
FR4342:Flg UTSW 3 93290513 unclassified probably benign
R0046:Flg UTSW 3 93277721 splice site probably benign
R0046:Flg UTSW 3 93277721 splice site probably benign
R0538:Flg UTSW 3 93279460 missense probably damaging 1.00
R1751:Flg UTSW 3 93279913 missense possibly damaging 0.91
R1767:Flg UTSW 3 93279913 missense possibly damaging 0.91
R2213:Flg UTSW 3 93293028 unclassified probably benign
R2311:Flg UTSW 3 93292953 unclassified probably benign
R2513:Flg UTSW 3 93279786 missense possibly damaging 0.83
R3892:Flg UTSW 3 93279526 missense probably benign 0.01
R3911:Flg UTSW 3 93280000 missense probably benign 0.01
R4207:Flg UTSW 3 93279862 missense probably benign 0.10
R4385:Flg UTSW 3 93293009 unclassified probably benign
R4939:Flg UTSW 3 93279847 missense probably benign 0.00
R5084:Flg UTSW 3 93277615 missense probably damaging 0.99
R5540:Flg UTSW 3 93277616 missense probably damaging 1.00
R5925:Flg UTSW 3 93279399 missense probably damaging 0.98
R5972:Flg UTSW 3 93279542 missense probably benign 0.00
R6130:Flg UTSW 3 93292716 unclassified probably benign
R6144:Flg UTSW 3 93283208 unclassified probably benign
R6184:Flg UTSW 3 93280050 missense probably benign 0.04
R6230:Flg UTSW 3 93279475 missense probably damaging 1.00
R6268:Flg UTSW 3 93288175 unclassified probably benign
R6360:Flg UTSW 3 93290601 unclassified probably benign
R6400:Flg UTSW 3 93279921 missense probably benign 0.41
R6464:Flg UTSW 3 93281381 unclassified probably benign
R6586:Flg UTSW 3 93292983 unclassified probably benign
R6685:Flg UTSW 3 93279409 missense possibly damaging 0.53
R6769:Flg UTSW 3 93288323 unclassified probably benign
R6771:Flg UTSW 3 93288323 unclassified probably benign
R6948:Flg UTSW 3 93288168 unclassified probably benign
R7102:Flg UTSW 3 93293028 missense unknown
R7186:Flg UTSW 3 93279945 nonsense probably null
R7222:Flg UTSW 3 93288314 missense unknown
R7248:Flg UTSW 3 93281734 missense probably benign 0.33
R7702:Flg UTSW 3 93292782 missense unknown
Predicted Primers PCR Primer
(F):5'- CCAAGTCAGCCTGCTTAATTTG -3'
(R):5'- ACCATGCCTCCGTCTAAGATTC -3'

Sequencing Primer
(F):5'- CAGCCTGCTTAATTTGAGAAAGATGG -3'
(R):5'- ATGCCTCCGTCTAAGATTCTGTTTG -3'
Posted On2014-08-25