Incidental Mutation 'R5540:Flg'
ID 435862
Institutional Source Beutler Lab
Gene Symbol Flg
Ensembl Gene ENSMUSG00000102439
Gene Name filaggrin
Synonyms profilaggrin, ft, fillagrin
MMRRC Submission 043098-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R5540 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 93180853-93200996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93184923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 15 (F15S)
Ref Sequence ENSEMBL: ENSMUSP00000142003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178008] [ENSMUST00000180308]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122125
Predicted Effect probably damaging
Transcript: ENSMUST00000148311
AA Change: F15S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141768
Gene: ENSMUSG00000081977
AA Change: F15S

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 damaging
Transcript: ENSMUST00000180308
AA Change: F15S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142003
Gene: ENSMUSG00000102439
AA Change: F15S

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: ENSMUST00000192486
AA Change: F1365S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216295
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,012,371 (GRCm39) S15P probably damaging Het
Actl7a A T 4: 56,744,388 (GRCm39) H305L probably benign Het
Adam26b C A 8: 43,974,654 (GRCm39) C116F probably damaging Het
Adgrl2 A G 3: 148,543,198 (GRCm39) probably null Het
Akr1b10 A G 6: 34,371,047 (GRCm39) T238A probably damaging Het
Akr1c18 A G 13: 4,187,178 (GRCm39) V186A probably benign Het
Alpk3 G A 7: 80,745,184 (GRCm39) V1311M probably damaging Het
Aox1 A G 1: 58,143,569 (GRCm39) N1229S probably benign Het
Apobec3 T A 15: 79,782,120 (GRCm39) N43K probably benign Het
Arid1a A C 4: 133,407,765 (GRCm39) D2247E unknown Het
Asph A G 4: 9,635,906 (GRCm39) L77S probably damaging Het
Cd300ld T A 11: 114,878,231 (GRCm39) T94S probably damaging Het
Celf2 T C 2: 6,558,743 (GRCm39) T382A probably benign Het
Cfap54 C T 10: 92,808,470 (GRCm39) A1402T possibly damaging Het
Chrnb1 A T 11: 69,686,476 (GRCm39) V48E probably benign Het
Col6a5 T A 9: 105,739,975 (GRCm39) E2548V probably benign Het
Crebrf A G 17: 26,961,071 (GRCm39) D56G possibly damaging Het
Dctn5 A G 7: 121,734,275 (GRCm39) T40A probably benign Het
Dmxl2 A T 9: 54,301,141 (GRCm39) N2323K probably benign Het
Dync1h1 A G 12: 110,627,384 (GRCm39) Q4021R probably benign Het
Dyrk1a T G 16: 94,486,202 (GRCm39) probably null Het
Ephb3 T A 16: 21,039,610 (GRCm39) F454Y probably damaging Het
Fbxo38 A G 18: 62,647,864 (GRCm39) probably null Het
Fndc3b G A 3: 27,555,651 (GRCm39) P301L probably damaging Het
Fpr-rs7 C T 17: 20,334,356 (GRCm39) G45R probably damaging Het
Garin3 A G 11: 46,295,715 (GRCm39) N29S probably damaging Het
Gfi1 T A 5: 107,867,991 (GRCm39) T360S probably damaging Het
Grik4 T C 9: 42,432,243 (GRCm39) H918R probably damaging Het
Hpx A G 7: 105,241,119 (GRCm39) S385P possibly damaging Het
Kdm5b A G 1: 134,558,979 (GRCm39) D1501G probably damaging Het
Kif20b A T 19: 34,915,860 (GRCm39) M546L probably benign Het
Map3k9 G T 12: 81,819,587 (GRCm39) N222K probably damaging Het
Me1 A G 9: 86,561,926 (GRCm39) L53P possibly damaging Het
Mis18bp1 T C 12: 65,195,520 (GRCm39) E748G possibly damaging Het
Morc3 T A 16: 93,644,268 (GRCm39) N186K probably benign Het
Mtor A G 4: 148,539,165 (GRCm39) T221A probably benign Het
Muc6 A G 7: 141,235,850 (GRCm39) probably null Het
Myh8 C A 11: 67,177,266 (GRCm39) T444N probably benign Het
Myo7b A G 18: 32,140,143 (GRCm39) Y216H probably damaging Het
Myom1 G A 17: 71,416,782 (GRCm39) V1382M probably damaging Het
Nbeal2 A T 9: 110,460,801 (GRCm39) Y1718N probably damaging Het
Npc1l1 A G 11: 6,164,546 (GRCm39) S1168P probably damaging Het
Or4c58 A G 2: 89,675,011 (GRCm39) F102S probably damaging Het
Or4d2 T A 11: 87,784,511 (GRCm39) K80* probably null Het
Or51f5 C T 7: 102,424,136 (GRCm39) A135V probably benign Het
Or5an9 T A 19: 12,187,824 (GRCm39) I298N probably damaging Het
Or6c8b G T 10: 128,882,364 (GRCm39) D189E probably damaging Het
Pcdha4 C A 18: 37,087,890 (GRCm39) A691E probably benign Het
Pde6a T G 18: 61,364,438 (GRCm39) F165V probably damaging Het
Ptpn14 A T 1: 189,578,561 (GRCm39) M340L probably benign Het
Rnasel G T 1: 153,630,890 (GRCm39) E469* probably null Het
Rsph3a T G 17: 8,164,790 (GRCm39) L50R probably benign Het
Rusc2 A G 4: 43,423,975 (GRCm39) Y1043C probably damaging Het
Serpinb6b A T 13: 33,161,541 (GRCm39) K86* probably null Het
Serpine1 T C 5: 137,092,063 (GRCm39) T392A probably benign Het
Shcbp1 A T 8: 4,794,529 (GRCm39) D421E probably damaging Het
Slc24a1 A G 9: 64,855,863 (GRCm39) V348A unknown Het
Slc26a7 A G 4: 14,506,621 (GRCm39) F605L probably benign Het
Slc66a1 A T 4: 139,027,655 (GRCm39) L229Q probably damaging Het
Spag17 A C 3: 99,963,588 (GRCm39) E1102A possibly damaging Het
Stab2 A G 10: 86,683,989 (GRCm39) V2390A probably benign Het
Stk11 A G 10: 79,961,883 (GRCm39) I35V probably benign Het
Stk24 T C 14: 121,531,693 (GRCm39) D321G possibly damaging Het
Tbx4 A T 11: 85,801,994 (GRCm39) N209I possibly damaging Het
Tmem225 T C 9: 40,060,681 (GRCm39) L80P probably damaging Het
Tnfrsf4 C T 4: 156,098,380 (GRCm39) T17I probably benign Het
Traf3ip1 G A 1: 91,429,037 (GRCm39) R268Q probably benign Het
Trhde T A 10: 114,636,497 (GRCm39) I237F probably benign Het
Ugt2a1 A T 5: 87,633,915 (GRCm39) W231R probably damaging Het
Vash1 ACTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGC 12: 86,726,831 (GRCm39) probably benign Het
Vps16 T A 2: 130,284,305 (GRCm39) D685E probably benign Het
Washc4 A G 10: 83,409,657 (GRCm39) D602G probably damaging Het
Wdr59 A G 8: 112,211,816 (GRCm39) L377P possibly damaging Het
Wdr81 T C 11: 75,339,896 (GRCm39) E1364G probably damaging Het
Other mutations in Flg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Flg APN 3 93,186,906 (GRCm39) missense probably benign 0.41
FR4342:Flg UTSW 3 93,197,820 (GRCm39) unclassified probably benign
R0046:Flg UTSW 3 93,185,028 (GRCm39) splice site probably benign
R0046:Flg UTSW 3 93,185,028 (GRCm39) splice site probably benign
R0538:Flg UTSW 3 93,186,767 (GRCm39) missense probably damaging 1.00
R1751:Flg UTSW 3 93,187,220 (GRCm39) missense possibly damaging 0.91
R1767:Flg UTSW 3 93,187,220 (GRCm39) missense possibly damaging 0.91
R2024:Flg UTSW 3 93,186,722 (GRCm39) missense probably damaging 0.99
R2213:Flg UTSW 3 93,200,335 (GRCm39) unclassified probably benign
R2311:Flg UTSW 3 93,200,260 (GRCm39) unclassified probably benign
R2513:Flg UTSW 3 93,187,093 (GRCm39) missense possibly damaging 0.83
R3892:Flg UTSW 3 93,186,833 (GRCm39) missense probably benign 0.01
R3911:Flg UTSW 3 93,187,307 (GRCm39) missense probably benign 0.01
R4207:Flg UTSW 3 93,187,169 (GRCm39) missense probably benign 0.10
R4385:Flg UTSW 3 93,200,316 (GRCm39) unclassified probably benign
R4939:Flg UTSW 3 93,187,154 (GRCm39) missense probably benign 0.00
R5084:Flg UTSW 3 93,184,922 (GRCm39) missense probably damaging 0.99
R5925:Flg UTSW 3 93,186,706 (GRCm39) missense probably damaging 0.98
R5972:Flg UTSW 3 93,186,849 (GRCm39) missense probably benign 0.00
R6130:Flg UTSW 3 93,200,023 (GRCm39) unclassified probably benign
R6144:Flg UTSW 3 93,190,515 (GRCm39) unclassified probably benign
R6184:Flg UTSW 3 93,187,357 (GRCm39) missense probably benign 0.04
R6230:Flg UTSW 3 93,186,782 (GRCm39) missense probably damaging 1.00
R6268:Flg UTSW 3 93,195,482 (GRCm39) unclassified probably benign
R6360:Flg UTSW 3 93,197,908 (GRCm39) unclassified probably benign
R6400:Flg UTSW 3 93,187,228 (GRCm39) missense probably benign 0.41
R6464:Flg UTSW 3 93,188,688 (GRCm39) unclassified probably benign
R6586:Flg UTSW 3 93,200,290 (GRCm39) unclassified probably benign
R6685:Flg UTSW 3 93,186,716 (GRCm39) missense possibly damaging 0.53
R6769:Flg UTSW 3 93,195,630 (GRCm39) unclassified probably benign
R6771:Flg UTSW 3 93,195,630 (GRCm39) unclassified probably benign
R6948:Flg UTSW 3 93,195,475 (GRCm39) unclassified probably benign
R7102:Flg UTSW 3 93,200,335 (GRCm39) missense unknown
R7186:Flg UTSW 3 93,187,252 (GRCm39) nonsense probably null
R7222:Flg UTSW 3 93,195,621 (GRCm39) missense unknown
R7248:Flg UTSW 3 93,189,041 (GRCm39) missense probably benign 0.33
R7702:Flg UTSW 3 93,200,089 (GRCm39) missense unknown
R7962:Flg UTSW 3 93,193,984 (GRCm39) missense unknown
R8109:Flg UTSW 3 93,197,734 (GRCm39) missense unknown
R8308:Flg UTSW 3 93,190,586 (GRCm39) missense unknown
R8322:Flg UTSW 3 93,191,639 (GRCm39) missense unknown
R8544:Flg UTSW 3 93,195,448 (GRCm39) unclassified probably benign
R9219:Flg UTSW 3 93,198,406 (GRCm39) missense possibly damaging 0.72
Z1176:Flg UTSW 3 93,187,269 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTCAGTTGCAAAAGTCACTTGATG -3'
(R):5'- TTGGGGAAAACTGTGATAATTCTGG -3'

Sequencing Primer
(F):5'- AGACATTGGAGAAGTTGTTCTTTAAC -3'
(R):5'- AAACTGTGATAATTCTGGTTGGTAG -3'
Posted On 2016-10-24