Incidental Mutation 'R7222:Flg'
ID 561865
Institutional Source Beutler Lab
Gene Symbol Flg
Ensembl Gene ENSMUSG00000102439
Gene Name filaggrin
Synonyms profilaggrin, ft, fillagrin
MMRRC Submission 045294-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R7222 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 93180853-93200996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93195621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 74 (S74T)
Ref Sequence ENSEMBL: ENSMUSP00000141513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050758] [ENSMUST00000178695] [ENSMUST00000178752] [ENSMUST00000179250] [ENSMUST00000179477] [ENSMUST00000180293]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000050758
SMART Domains Protein: ENSMUSP00000142294
Gene: ENSMUSG00000102439

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
low complexity region 35 98 N/A INTRINSIC
low complexity region 154 207 N/A INTRINSIC
low complexity region 235 276 N/A INTRINSIC
low complexity region 285 315 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 unknown
Transcript: ENSMUST00000179250
AA Change: S74T
SMART Domains Protein: ENSMUSP00000141513
Gene: ENSMUSG00000102439
AA Change: S74T

DomainStartEndE-ValueType
low complexity region 9 62 N/A INTRINSIC
low complexity region 90 105 N/A INTRINSIC
low complexity region 109 138 N/A INTRINSIC
low complexity region 140 203 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179477
SMART Domains Protein: ENSMUSP00000141987
Gene: ENSMUSG00000102439

DomainStartEndE-ValueType
low complexity region 10 49 N/A INTRINSIC
internal_repeat_1 50 85 7.34e-5 PROSPERO
low complexity region 91 106 N/A INTRINSIC
low complexity region 112 132 N/A INTRINSIC
low complexity region 141 204 N/A INTRINSIC
internal_repeat_1 222 255 7.34e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000180293
SMART Domains Protein: ENSMUSP00000141844
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 141 204 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,082,519 (GRCm39) N1151K probably benign Het
Add3 T C 19: 53,205,277 (GRCm39) V9A unknown Het
Ankar A G 1: 72,705,514 (GRCm39) I832T probably damaging Het
Arhgef10l C A 4: 140,248,580 (GRCm39) W785L probably damaging Het
Atp7b G A 8: 22,512,394 (GRCm39) Q490* probably null Het
Chrna5 A G 9: 54,905,347 (GRCm39) D53G probably benign Het
Clip1 T A 5: 123,749,904 (GRCm39) N993I probably damaging Het
Cyp3a59 A T 5: 146,033,385 (GRCm39) probably null Het
Dnah3 T A 7: 119,670,746 (GRCm39) N651Y probably benign Het
Dop1a T C 9: 86,404,929 (GRCm39) probably null Het
Eva1c AGGGTGTCCTGTACGAAGGACTTCCGGG AGGG 16: 90,701,072 (GRCm39) probably benign Het
Fras1 T C 5: 96,784,045 (GRCm39) Y850H probably damaging Het
Fras1 A T 5: 96,784,668 (GRCm39) T884S probably benign Het
Fsip2 A G 2: 82,814,015 (GRCm39) T3445A probably benign Het
Herc1 C A 9: 66,374,781 (GRCm39) P3237H probably damaging Het
Ifi35 A G 11: 101,348,341 (GRCm39) N123S probably benign Het
Igkv1-117 A T 6: 68,098,733 (GRCm39) D94V probably damaging Het
Kif1b T C 4: 149,309,614 (GRCm39) D764G probably damaging Het
Lztr1 A G 16: 17,341,996 (GRCm39) E657G possibly damaging Het
Mmd2 G T 5: 142,553,682 (GRCm39) L160I probably benign Het
Muc2 A T 7: 141,290,758 (GRCm39) T15S Het
Muc6 T A 7: 141,214,428 (GRCm39) H2835L unknown Het
Myo1h G A 5: 114,493,322 (GRCm39) probably null Het
Or10v5 C A 19: 11,806,021 (GRCm39) R123L probably damaging Het
Or51ag1 A G 7: 103,155,664 (GRCm39) V163A possibly damaging Het
Or52n4 T C 7: 104,293,937 (GRCm39) D214G probably damaging Het
Or5d43 T A 2: 88,104,809 (GRCm39) M195L probably benign Het
Or5p72 A G 7: 108,021,844 (GRCm39) D22G probably benign Het
Or6c219 A G 10: 129,781,758 (GRCm39) Y58H probably damaging Het
Or7g32 A T 9: 19,388,763 (GRCm39) V261E probably damaging Het
Osbpl7 A G 11: 96,951,364 (GRCm39) T684A probably damaging Het
P2ry14 T C 3: 59,022,803 (GRCm39) K219R probably benign Het
Pde4d A T 13: 109,894,113 (GRCm39) H156L probably damaging Het
Polq G T 16: 36,906,995 (GRCm39) E2319* probably null Het
Ranbp3 T G 17: 57,017,211 (GRCm39) V409G probably damaging Het
Sart3 T C 5: 113,884,717 (GRCm39) D629G probably benign Het
Selenon T A 4: 134,275,288 (GRCm39) T137S possibly damaging Het
Setd2 T A 9: 110,380,530 (GRCm39) D55E Het
Slamf8 G A 1: 172,411,775 (GRCm39) T240I possibly damaging Het
Slc39a10 A G 1: 46,858,452 (GRCm39) L615P possibly damaging Het
Speer1e T A 5: 11,233,080 (GRCm39) N14K probably damaging Het
Tbce T C 13: 14,172,735 (GRCm39) D505G probably damaging Het
Tenm3 C T 8: 48,754,004 (GRCm39) G800R probably damaging Het
Terf2ip T C 8: 112,738,547 (GRCm39) V145A possibly damaging Het
Tmprss7 T C 16: 45,511,256 (GRCm39) I41V probably benign Het
Traj49 A T 14: 54,406,160 (GRCm39) N6I Het
Trim30a T C 7: 104,070,639 (GRCm39) probably null Het
Ubr4 T A 4: 139,190,684 (GRCm39) S905T unknown Het
Unc93a2 A G 17: 7,643,866 (GRCm39) S148P probably damaging Het
Zfp948 T A 17: 21,808,102 (GRCm39) H431Q probably damaging Het
Zfyve1 A G 12: 83,601,779 (GRCm39) F525L probably benign 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
R5540:Flg UTSW 3 93,184,923 (GRCm39) missense probably damaging 1.00
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
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'- GGCTCCGGATACTACTATGAGC -3'
(R):5'- CTCCAGAATGGACATGGCTG -3'

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