Incidental Mutation 'IGL02958:Flg2'
ID 365212
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Flg2
Ensembl Gene ENSMUSG00000049133
Gene Name filaggrin family member 2
Synonyms EG229574
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL02958
Quality Score
Status
Chromosome 3
Chromosomal Location 93197278-93221391 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 93203613 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 983 (R983W)
Ref Sequence ENSEMBL: ENSMUSP00000096482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098884] [ENSMUST00000194707]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000098884
AA Change: R983W
SMART Domains Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: R983W

DomainStartEndE-ValueType
Pfam:S_100 4 46 1.2e-17 PFAM
low complexity region 58 70 N/A INTRINSIC
low complexity region 110 121 N/A INTRINSIC
low complexity region 131 146 N/A INTRINSIC
low complexity region 207 223 N/A INTRINSIC
internal_repeat_2 230 347 7.36e-7 PROSPERO
internal_repeat_2 349 466 7.36e-7 PROSPERO
internal_repeat_3 366 392 6.93e-6 PROSPERO
internal_repeat_6 419 471 4.17e-5 PROSPERO
low complexity region 474 550 N/A INTRINSIC
low complexity region 567 589 N/A INTRINSIC
low complexity region 593 679 N/A INTRINSIC
low complexity region 680 705 N/A INTRINSIC
low complexity region 719 748 N/A INTRINSIC
low complexity region 749 768 N/A INTRINSIC
low complexity region 772 800 N/A INTRINSIC
internal_repeat_5 804 825 4.17e-5 PROSPERO
internal_repeat_3 810 836 6.93e-6 PROSPERO
low complexity region 846 860 N/A INTRINSIC
low complexity region 863 885 N/A INTRINSIC
internal_repeat_5 895 919 4.17e-5 PROSPERO
internal_repeat_4 899 939 1.7e-5 PROSPERO
internal_repeat_1 944 1461 8.08e-127 PROSPERO
internal_repeat_6 1335 1386 4.17e-5 PROSPERO
low complexity region 1465 1485 N/A INTRINSIC
internal_repeat_1 1486 2009 8.08e-127 PROSPERO
internal_repeat_4 2123 2173 1.7e-5 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194707
SMART Domains Protein: ENSMUSP00000141201
Gene: ENSMUSG00000049133

DomainStartEndE-ValueType
SCOP:d1qlka_ 1 35 6e-10 SMART
low complexity region 53 64 N/A INTRINSIC
low complexity region 74 89 N/A INTRINSIC
low complexity region 150 166 N/A INTRINSIC
low complexity region 339 354 N/A INTRINSIC
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G T 17: 45,518,172 (GRCm38) V755L probably benign Het
Abhd15 T C 11: 77,515,965 (GRCm38) V256A possibly damaging Het
Agtr1b A T 3: 20,316,094 (GRCm38) V116E possibly damaging Het
Ahi1 A T 10: 20,963,799 (GRCm38) D203V probably damaging Het
Aplp2 G T 9: 31,164,676 (GRCm38) probably benign Het
Arid4a T C 12: 71,097,563 (GRCm38) S1249P probably benign Het
Asz1 T A 6: 18,073,814 (GRCm38) K298M possibly damaging Het
C4bp A G 1: 130,636,795 (GRCm38) I384T probably damaging Het
Cacna1e C A 1: 154,465,741 (GRCm38) A1236S probably damaging Het
Cdh13 T C 8: 119,312,721 (GRCm38) I634T possibly damaging Het
Cemip A T 7: 83,975,055 (GRCm38) F524L probably damaging Het
Dnah7c G A 1: 46,657,111 (GRCm38) R2051H probably damaging Het
Dnajc17 T C 2: 119,185,762 (GRCm38) K77E probably benign Het
Efhc2 C T X: 17,161,246 (GRCm38) probably benign Het
Ergic2 A T 6: 148,181,943 (GRCm38) *50K probably null Het
Fam83g C T 11: 61,707,722 (GRCm38) P812S probably damaging Het
Gm7102 G T 19: 61,175,680 (GRCm38) Q106K possibly damaging Het
Gm9047 G A 6: 29,471,626 (GRCm38) G34R probably damaging Het
Itih3 T C 14: 30,913,182 (GRCm38) T73A probably benign Het
Kcnj1 A G 9: 32,396,555 (GRCm38) S72G probably damaging Het
Kcnn4 T C 7: 24,374,745 (GRCm38) V78A probably benign Het
Lrp1b T A 2: 41,302,916 (GRCm38) D1353V probably damaging Het
Lrrc2 T A 9: 110,962,673 (GRCm38) probably null Het
Ndufs8 T C 19: 3,911,232 (GRCm38) E45G probably benign Het
Nell1 G A 7: 50,220,337 (GRCm38) probably null Het
Nxt1 A G 2: 148,675,772 (GRCm38) probably benign Het
Olfr1039 T A 2: 86,131,007 (GRCm38) I219F probably benign Het
Olfr1390 A G 11: 49,341,300 (GRCm38) Y256C probably benign Het
Pdzd8 A T 19: 59,300,372 (GRCm38) C865* probably null Het
Pop1 G T 15: 34,530,363 (GRCm38) C969F probably damaging Het
Rc3h2 A C 2: 37,414,700 (GRCm38) I16S probably damaging Het
Shank1 T C 7: 44,354,473 (GRCm38) V1863A possibly damaging Het
Slc15a4 A T 5: 127,604,665 (GRCm38) L296Q possibly damaging Het
Ssr4 T C X: 73,787,250 (GRCm38) probably benign Het
Supt20 T A 3: 54,713,723 (GRCm38) probably benign Het
Ttc8 A T 12: 98,964,544 (GRCm38) K282N probably benign Het
Usp40 A T 1: 87,978,485 (GRCm38) V676E probably damaging Het
Vmn1r43 T C 6: 89,870,049 (GRCm38) I152V probably benign Het
Vmn2r61 A T 7: 42,299,937 (GRCm38) I594F probably benign Het
Vps53 A C 11: 76,117,711 (GRCm38) I261S probably damaging Het
Wdr19 T A 5: 65,212,807 (GRCm38) probably null Het
Zc3hav1 T A 6: 38,332,984 (GRCm38) D301V probably damaging Het
Other mutations in Flg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Flg2 APN 3 93,202,109 (GRCm38) nonsense probably null
IGL00092:Flg2 APN 3 93,219,855 (GRCm38) missense possibly damaging 0.90
IGL00985:Flg2 APN 3 93,203,278 (GRCm38) missense unknown
IGL01077:Flg2 APN 3 93,220,206 (GRCm38) missense unknown
IGL01093:Flg2 APN 3 93,202,371 (GRCm38) missense unknown
IGL01120:Flg2 APN 3 93,201,168 (GRCm38) missense probably damaging 0.99
IGL01473:Flg2 APN 3 93,203,020 (GRCm38) missense unknown
IGL01584:Flg2 APN 3 93,215,470 (GRCm38) missense unknown
IGL01584:Flg2 APN 3 93,213,466 (GRCm38) missense unknown
IGL01686:Flg2 APN 3 93,202,284 (GRCm38) missense unknown
IGL02207:Flg2 APN 3 93,220,128 (GRCm38) missense unknown
IGL02294:Flg2 APN 3 93,203,746 (GRCm38) missense unknown
IGL02418:Flg2 APN 3 93,201,054 (GRCm38) missense probably benign 0.26
IGL02581:Flg2 APN 3 93,219,892 (GRCm38) missense unknown
IGL02719:Flg2 APN 3 93,220,131 (GRCm38) nonsense probably null
IGL02795:Flg2 APN 3 93,203,613 (GRCm38) missense unknown
IGL02893:Flg2 APN 3 93,203,613 (GRCm38) missense unknown
IGL03060:Flg2 APN 3 93,203,613 (GRCm38) missense unknown
IGL03088:Flg2 APN 3 93,203,191 (GRCm38) missense unknown
IGL03165:Flg2 APN 3 93,214,611 (GRCm38) missense unknown
IGL03342:Flg2 APN 3 93,201,235 (GRCm38) missense probably damaging 1.00
IGL03352:Flg2 APN 3 93,202,494 (GRCm38) missense unknown
IGL02796:Flg2 UTSW 3 93,203,613 (GRCm38) missense unknown
IGL02837:Flg2 UTSW 3 93,201,737 (GRCm38) missense probably damaging 1.00
PIT4618001:Flg2 UTSW 3 93,203,781 (GRCm38) missense unknown
R0087:Flg2 UTSW 3 93,202,431 (GRCm38) missense unknown
R0233:Flg2 UTSW 3 93,201,797 (GRCm38) nonsense probably null
R0233:Flg2 UTSW 3 93,201,797 (GRCm38) nonsense probably null
R0315:Flg2 UTSW 3 93,214,722 (GRCm38) missense unknown
R0390:Flg2 UTSW 3 93,200,355 (GRCm38) splice site probably benign
R0462:Flg2 UTSW 3 93,201,437 (GRCm38) missense probably benign 0.18
R0553:Flg2 UTSW 3 93,203,584 (GRCm38) missense unknown
R0828:Flg2 UTSW 3 93,203,332 (GRCm38) missense unknown
R1006:Flg2 UTSW 3 93,201,207 (GRCm38) missense probably benign 0.41
R1444:Flg2 UTSW 3 93,202,313 (GRCm38) missense unknown
R1497:Flg2 UTSW 3 93,219,769 (GRCm38) missense unknown
R1518:Flg2 UTSW 3 93,203,138 (GRCm38) missense unknown
R1737:Flg2 UTSW 3 93,203,621 (GRCm38) missense unknown
R1780:Flg2 UTSW 3 93,202,999 (GRCm38) missense unknown
R1797:Flg2 UTSW 3 93,200,976 (GRCm38) missense probably damaging 1.00
R2065:Flg2 UTSW 3 93,202,231 (GRCm38) missense unknown
R2168:Flg2 UTSW 3 93,201,937 (GRCm38) missense probably damaging 1.00
R2220:Flg2 UTSW 3 93,202,185 (GRCm38) missense unknown
R2292:Flg2 UTSW 3 93,220,677 (GRCm38) missense unknown
R2327:Flg2 UTSW 3 93,203,606 (GRCm38) nonsense probably null
R2512:Flg2 UTSW 3 93,201,775 (GRCm38) missense probably damaging 1.00
R3177:Flg2 UTSW 3 93,214,888 (GRCm38) missense unknown
R3277:Flg2 UTSW 3 93,214,888 (GRCm38) missense unknown
R3522:Flg2 UTSW 3 93,220,027 (GRCm38) missense unknown
R3779:Flg2 UTSW 3 93,202,423 (GRCm38) missense unknown
R3926:Flg2 UTSW 3 93,203,215 (GRCm38) missense unknown
R4082:Flg2 UTSW 3 93,203,521 (GRCm38) missense unknown
R4407:Flg2 UTSW 3 93,214,869 (GRCm38) missense unknown
R5152:Flg2 UTSW 3 93,214,977 (GRCm38) missense unknown
R5253:Flg2 UTSW 3 93,200,812 (GRCm38) missense probably damaging 1.00
R5290:Flg2 UTSW 3 93,220,566 (GRCm38) missense unknown
R5464:Flg2 UTSW 3 93,201,970 (GRCm38) missense possibly damaging 0.73
R5539:Flg2 UTSW 3 93,220,446 (GRCm38) missense unknown
R5622:Flg2 UTSW 3 93,202,564 (GRCm38) missense unknown
R5788:Flg2 UTSW 3 93,200,989 (GRCm38) missense probably benign 0.41
R5792:Flg2 UTSW 3 93,203,497 (GRCm38) missense unknown
R5831:Flg2 UTSW 3 93,200,234 (GRCm38) missense probably damaging 1.00
R5877:Flg2 UTSW 3 93,203,449 (GRCm38) missense unknown
R6041:Flg2 UTSW 3 93,220,361 (GRCm38) missense probably benign 0.01
R6189:Flg2 UTSW 3 93,220,074 (GRCm38) missense unknown
R6214:Flg2 UTSW 3 93,201,859 (GRCm38) missense possibly damaging 0.83
R6215:Flg2 UTSW 3 93,201,859 (GRCm38) missense possibly damaging 0.83
R6239:Flg2 UTSW 3 93,201,272 (GRCm38) missense probably benign 0.36
R6288:Flg2 UTSW 3 93,203,785 (GRCm38) missense unknown
R6413:Flg2 UTSW 3 93,220,376 (GRCm38) missense unknown
R6457:Flg2 UTSW 3 93,220,482 (GRCm38) missense unknown
R6468:Flg2 UTSW 3 93,214,421 (GRCm38) missense unknown
R6667:Flg2 UTSW 3 93,201,761 (GRCm38) missense possibly damaging 0.88
R6930:Flg2 UTSW 3 93,201,335 (GRCm38) nonsense probably null
R6996:Flg2 UTSW 3 93,202,949 (GRCm38) missense unknown
R6996:Flg2 UTSW 3 93,202,670 (GRCm38) missense unknown
R7100:Flg2 UTSW 3 93,203,711 (GRCm38) missense unknown
R7133:Flg2 UTSW 3 93,219,762 (GRCm38) missense unknown
R7180:Flg2 UTSW 3 93,202,833 (GRCm38) missense unknown
R7325:Flg2 UTSW 3 93,203,372 (GRCm38) missense unknown
R7349:Flg2 UTSW 3 93,220,206 (GRCm38) missense unknown
R7531:Flg2 UTSW 3 93,200,870 (GRCm38) missense probably damaging 0.99
R7571:Flg2 UTSW 3 93,219,996 (GRCm38) nonsense probably null
R7684:Flg2 UTSW 3 93,219,649 (GRCm38) missense unknown
R7810:Flg2 UTSW 3 93,200,241 (GRCm38) missense possibly damaging 0.70
R7853:Flg2 UTSW 3 93,220,747 (GRCm38) missense unknown
R8031:Flg2 UTSW 3 93,220,214 (GRCm38) missense unknown
R8078:Flg2 UTSW 3 93,200,275 (GRCm38) missense probably damaging 1.00
R8142:Flg2 UTSW 3 93,215,475 (GRCm38) nonsense probably null
R8156:Flg2 UTSW 3 93,220,083 (GRCm38) missense unknown
R8172:Flg2 UTSW 3 93,201,161 (GRCm38) missense possibly damaging 0.94
R8204:Flg2 UTSW 3 93,202,767 (GRCm38) missense unknown
R8262:Flg2 UTSW 3 93,220,210 (GRCm38) missense unknown
R8269:Flg2 UTSW 3 93,201,880 (GRCm38) missense possibly damaging 0.68
R8290:Flg2 UTSW 3 93,202,762 (GRCm38) missense unknown
R8444:Flg2 UTSW 3 93,200,278 (GRCm38) missense probably damaging 0.97
R8670:Flg2 UTSW 3 93,201,484 (GRCm38) missense probably damaging 0.97
R8755:Flg2 UTSW 3 93,200,813 (GRCm38) missense probably damaging 1.00
R9039:Flg2 UTSW 3 93,203,592 (GRCm38) missense unknown
R9116:Flg2 UTSW 3 93,202,284 (GRCm38) missense unknown
R9214:Flg2 UTSW 3 93,203,577 (GRCm38) missense unknown
R9231:Flg2 UTSW 3 93,202,201 (GRCm38) missense unknown
R9553:Flg2 UTSW 3 93,214,594 (GRCm38) missense unknown
R9607:Flg2 UTSW 3 93,201,412 (GRCm38) missense probably damaging 0.98
R9735:Flg2 UTSW 3 93,220,362 (GRCm38) missense unknown
R9752:Flg2 UTSW 3 93,201,160 (GRCm38) missense probably damaging 0.98
Z1177:Flg2 UTSW 3 93,202,738 (GRCm38) missense unknown
Z1177:Flg2 UTSW 3 93,202,420 (GRCm38) missense unknown
Posted On 2015-12-18