Incidental Mutation 'IGL01080:Flg'
ID50708
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Flg
Ensembl Gene ENSMUSG00000102439
Gene Namefilaggrin
Synonymsft, fillagrin, profilaggrin
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.564) question?
Stock #IGL01080
Quality Score
Status
Chromosome3
Chromosomal Location93273523-93293686 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 93279599 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 119 (K119N)
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 benign
Transcript: ENSMUST00000148311
AA Change: K119N

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141768
Gene: ENSMUSG00000081977
AA Change: K119N

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 benign
Transcript: ENSMUST00000180308
AA Change: K119N

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142003
Gene: ENSMUSG00000102439
AA Change: K119N

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
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,934,258 R663W probably damaging Het
Cacng5 A T 11: 107,877,928 F179L probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Cd96 T C 16: 46,049,693 E471G possibly damaging Het
Cpt1c T C 7: 44,960,909 D621G probably damaging Het
Csmd3 T C 15: 47,881,403 I1503V probably benign Het
Dmgdh T C 13: 93,703,778 probably benign Het
Gale T C 4: 135,966,078 Y104H probably damaging Het
Gm8005 T C 14: 42,437,014 D119G unknown Het
Gstk1 A T 6: 42,246,626 D50V possibly damaging Het
Kmt2a T C 9: 44,809,092 D3866G unknown Het
Mastl A G 2: 23,146,148 S119P probably damaging Het
Olfr169 A T 16: 19,566,208 V225E probably damaging Het
Phf11c G A 14: 59,393,199 T19I probably benign Het
Ppp1r16b A G 2: 158,757,172 T355A probably damaging Het
Prmt7 T G 8: 106,237,214 probably benign Het
Rad50 T C 11: 53,706,068 T44A probably damaging Het
Rangap1 C T 15: 81,705,752 probably benign Het
Slc27a3 A T 3: 90,385,460 V634E probably benign Het
Tbxas1 T A 6: 39,021,181 L228I probably damaging Het
Tnfaip3 T C 10: 19,011,655 K41E probably benign Het
Tti1 C T 2: 157,982,459 V1025I probably damaging Het
Tyrobp T C 7: 30,417,416 probably null Het
Wfdc16 A T 2: 164,638,486 W30R probably damaging Het
Zyg11b A T 4: 108,237,416 L657Q probably damaging Het
Other mutations in Flg
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Z1176:Flg UTSW 3 93279962 missense probably benign 0.00
Posted On2013-06-21