Incidental Mutation 'R2513:Flg'
ID253570
Institutional Source Beutler Lab
Gene Symbol Flg
Ensembl Gene ENSMUSG00000102439
Gene Namefilaggrin
Synonymsft, fillagrin, profilaggrin
MMRRC Submission 040419-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.463) question?
Stock #R2513 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location93273523-93293686 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 93279786 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 182 (S182T)
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 possibly damaging
Transcript: ENSMUST00000148311
AA Change: S182T

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141768
Gene: ENSMUSG00000081977
AA Change: S182T

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 possibly damaging
Transcript: ENSMUST00000180308
AA Change: S182T

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142003
Gene: ENSMUSG00000102439
AA Change: S182T

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,661,852 T719A possibly damaging Het
9530053A07Rik C G 7: 28,131,635 S91C probably damaging Het
Abcc1 A G 16: 14,473,009 probably null Het
Aftph C T 11: 20,708,676 probably null Het
Als2 C A 1: 59,215,117 K360N probably benign Het
Atg2a T A 19: 6,258,046 probably null Het
Axl T C 7: 25,787,516 D22G probably benign Het
Baiap2 G A 11: 119,999,226 A438T probably benign Het
Bean1 G C 8: 104,182,011 A7P probably benign Het
Birc6 C G 17: 74,647,729 P3431R probably damaging Het
Camk1d A G 2: 5,714,236 M1T probably null Het
Carmil3 T C 14: 55,503,838 Y1027H probably damaging Het
Ccdc6 G A 10: 70,187,828 probably benign Het
Cemip C A 7: 83,942,025 V1280L probably benign Het
Cfap58 C A 19: 47,962,542 N447K probably benign Het
Chd3 A G 11: 69,360,645 L520P probably damaging Het
Col1a2 T A 6: 4,531,223 probably null Het
Cpne7 A C 8: 123,117,667 probably null Het
Ctla4 T C 1: 60,912,564 V84A probably damaging Het
Dap3 A G 3: 88,928,258 V263A probably benign Het
Dhx57 T A 17: 80,241,949 probably null Het
Dlg5 C A 14: 24,164,525 K663N probably damaging Het
Dsg3 C A 18: 20,523,662 F196L possibly damaging Het
Eif2ak4 C A 2: 118,426,583 D402E probably damaging Het
Fam208b G T 13: 3,582,150 L784I possibly damaging Het
Fance T C 17: 28,318,094 V24A probably benign Het
Fasn A T 11: 120,814,748 L1149Q probably damaging Het
Gm128 T A 3: 95,239,982 S334C possibly damaging Het
Gm3727 A C 14: 7,264,561 H31Q probably damaging Het
Gm4841 T G 18: 60,270,905 T39P probably damaging Het
Golgb1 G T 16: 36,915,151 V1587L possibly damaging Het
Golm1 G A 13: 59,642,258 P243S probably benign Het
Gstcd C A 3: 133,082,320 A206S possibly damaging Het
Gstcd C A 3: 133,082,321 K205N possibly damaging Het
Gtf3c1 A G 7: 125,681,173 V355A probably benign Het
Hhatl T C 9: 121,789,170 D173G probably benign Het
Kcnu1 T A 8: 25,905,966 C660S probably benign Het
Kctd8 T C 5: 69,110,645 D374G probably benign Het
Kif21a T C 15: 90,994,391 I229V possibly damaging Het
L3mbtl1 A T 2: 162,967,585 I702F probably benign Het
Lce1d T C 3: 92,685,759 probably benign Het
Lrig1 C T 6: 94,617,366 probably null Het
Lrp12 A T 15: 39,876,111 D563E probably damaging Het
Lrp2 C T 2: 69,506,374 probably null Het
Map3k5 G A 10: 20,094,455 V703I possibly damaging Het
Mecr A G 4: 131,853,765 R110G probably benign Het
Mtrr T A 13: 68,566,973 K445* probably null Het
Nanos1 T A 19: 60,756,552 L96Q probably benign Het
Olfr538 T G 7: 140,574,156 M1R probably null Het
Olfr574 T A 7: 102,949,493 F333I probably benign Het
Olfr807 T A 10: 129,755,152 L99F probably damaging Het
Otog T C 7: 46,305,590 probably null Het
Pcdhb3 T A 18: 37,301,239 L86* probably null Het
Pcdhb3 A T 18: 37,301,240 L86F probably damaging Het
Pcdhb3 G T 18: 37,301,241 V87F probably benign Het
Pdgfd A G 9: 6,359,894 K322E probably damaging Het
Picalm T C 7: 90,197,009 S648P probably damaging Het
Pigr T C 1: 130,846,620 S446P possibly damaging Het
Pik3cb A C 9: 99,061,842 L636W probably damaging Het
Pla2g2f A T 4: 138,754,162 L92Q probably damaging Het
Plod3 G C 5: 136,988,146 A50P probably benign Het
Prkar2b C T 12: 31,975,929 V191I possibly damaging Het
Prune1 C A 3: 95,258,119 A281S probably benign Het
Ptges3l A T 11: 101,424,042 C42S possibly damaging Het
Reg3b A T 6: 78,371,819 I33L probably benign Het
Rel A G 11: 23,745,823 I188T probably damaging Het
Rif1 GCCACCA GCCA 2: 52,110,324 probably benign Het
Ripor1 G T 8: 105,617,622 V463L probably benign Het
Rrm1 T A 7: 102,460,689 D510E probably damaging Het
Setd7 A G 3: 51,533,015 S202P probably damaging Het
Shank3 T A 15: 89,548,686 D1211E probably benign Het
Slc30a1 A T 1: 191,907,562 T186S possibly damaging Het
Slc4a4 G A 5: 89,156,398 V523I probably benign Het
Slc9a2 T A 1: 40,742,608 probably null Het
Smg6 A G 11: 74,929,676 T258A probably damaging Het
Sptlc1 C T 13: 53,337,640 D408N possibly damaging Het
Tbl3 T C 17: 24,704,550 probably null Het
Tdo2 T C 3: 81,969,505 D139G possibly damaging Het
Ticam1 T A 17: 56,271,612 H161L possibly damaging Het
Tnfaip3 T A 10: 19,005,659 D293V probably benign Het
Trim72 G A 7: 128,004,706 V75M possibly damaging Het
Trip11 T A 12: 101,837,727 N1632I possibly damaging Het
Tspan18 A T 2: 93,220,095 M61K possibly damaging Het
Tuba8 A T 6: 121,225,973 E415V probably damaging Het
Ung A G 5: 114,137,192 H214R probably benign Het
Uqcrc1 T C 9: 108,936,768 L17P probably damaging Het
Usp24 A G 4: 106,379,405 probably null Het
Vps39 A C 2: 120,338,787 Y245D probably damaging Het
Whrn T A 4: 63,435,412 T373S probably benign Het
Zc2hc1a C T 3: 7,516,536 probably null 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
R2024:Flg UTSW 3 93279415 missense probably damaging 0.99
R2213:Flg UTSW 3 93293028 unclassified probably benign
R2311:Flg UTSW 3 93292953 unclassified probably benign
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'- ATCTTAGACGGAGGCATGGTG -3'
(R):5'- CTGTTGTCTGCCTGACCATG -3'

Sequencing Primer
(F):5'- CGGAGGCATGGTGGAACTG -3'
(R):5'- TCTGCCTGACCATGGGATGAC -3'
Posted On2014-12-04