Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02795:Flg2'

359930

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: 0.126) question?

Stock #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

93104585-93128698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 93110920 bp (GRCm39)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,327,907 (GRCm39)	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,252,468 (GRCm39)		probably benign	Het
Acvr1	A	G	2: 58,352,964 (GRCm39)	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,271,191 (GRCm39)	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,644,786 (GRCm39)		probably null	Het
Btnl9	A	T	11: 49,065,694 (GRCm39)		probably benign	Het
Dbx1	T	A	7: 49,286,325 (GRCm39)	I47F	probably benign	Het
Dennd2b	T	C	7: 109,155,571 (GRCm39)	Y393C	probably damaging	Het
Dnaja3	A	G	16: 4,507,937 (GRCm39)		probably benign	Het
Dnmt1	T	C	9: 20,838,407 (GRCm39)	S220G	probably benign	Het
Dock9	A	T	14: 121,877,390 (GRCm39)	M451K	probably benign	Het
Eml3	A	G	19: 8,911,142 (GRCm39)	Y257C	probably benign	Het
Fam3d	T	A	14: 8,355,497 (GRCm38)	M113L	probably benign	Het
Fbxw19	C	A	9: 109,324,886 (GRCm39)	M10I	possibly damaging	Het
Galnt5	C	A	2: 57,917,883 (GRCm39)	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331 (GRCm39)	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,867,484 (GRCm39)		probably benign	Het
Gpr45	C	T	1: 43,071,653 (GRCm39)	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,497,102 (GRCm39)	S302L	probably damaging	Het
Hrg	T	C	16: 22,776,303 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,045,889 (GRCm39)		probably null	Het
Lgr4	T	C	2: 109,838,555 (GRCm39)		probably benign	Het
Lrrc9	C	T	12: 72,525,542 (GRCm39)	T830M	probably damaging	Het
Mdga2	T	C	12: 66,736,206 (GRCm39)	T341A	probably benign	Het
Mms19	C	T	19: 41,940,845 (GRCm39)		probably null	Het
Nectin1	A	G	9: 43,714,849 (GRCm39)	S362G	probably benign	Het
Nlrc3	G	T	16: 3,783,149 (GRCm39)	H87N	probably damaging	Het
Or1e17	G	A	11: 73,831,755 (GRCm39)	V228I	probably benign	Het
Or2ah1	T	A	2: 85,653,856 (GRCm39)	C180*	probably null	Het
Or4b13	A	G	2: 90,082,906 (GRCm39)	L142P	probably damaging	Het
Or52a20	T	A	7: 103,366,090 (GRCm39)	F96L	probably benign	Het
Or5h17	G	T	16: 58,820,640 (GRCm39)	L197F	possibly damaging	Het
Pcsk1	G	T	13: 75,260,739 (GRCm39)	G321C	probably damaging	Het
Poglut3	A	G	9: 53,303,405 (GRCm39)	D99G	probably damaging	Het
Prrc2c	G	T	1: 162,541,868 (GRCm39)	P374T	probably benign	Het
Rusc1	A	T	3: 88,999,257 (GRCm39)	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,610,076 (GRCm39)	N4250S	probably benign	Het
Scara5	A	C	14: 65,968,129 (GRCm39)	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,857,447 (GRCm39)	K595R	probably benign	Het
Serpinb6a	A	C	13: 34,115,576 (GRCm39)	L15R	probably damaging	Het
Setdb1	A	T	3: 95,234,684 (GRCm39)	N1006K	probably damaging	Het
Slc18a2	G	A	19: 59,262,922 (GRCm39)		probably benign	Het
Slc22a30	C	T	19: 8,378,259 (GRCm39)	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,958,003 (GRCm39)	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,395,782 (GRCm39)	D611V	probably benign	Het
Spag6	G	T	2: 18,737,894 (GRCm39)	V255F	probably benign	Het
Svep1	C	A	4: 58,123,223 (GRCm39)	G698W	probably damaging	Het
Syne2	T	C	12: 76,013,323 (GRCm39)	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,373,524 (GRCm39)	E58G	possibly damaging	Het
Trim24	A	T	6: 37,896,324 (GRCm39)	E260D	probably damaging	Het
Ugt2b1	T	A	5: 87,065,560 (GRCm39)	D493V	probably damaging	Het
Vmn1r27	A	G	6: 58,192,287 (GRCm39)	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,305,539 (GRCm39)	Q74R	probably benign	Het
Vps25	A	G	11: 101,146,916 (GRCm39)	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,339,480 (GRCm39)	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,970,505 (GRCm39)	E273G	possibly damaging	Het

Other mutations in Flg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Flg2	APN	3	93,109,416 (GRCm39)	nonsense	probably null
IGL00092:Flg2	APN	3	93,127,162 (GRCm39)	missense	possibly damaging	0.90
IGL00985:Flg2	APN	3	93,110,585 (GRCm39)	missense	unknown
IGL01077:Flg2	APN	3	93,127,513 (GRCm39)	missense	unknown
IGL01093:Flg2	APN	3	93,109,678 (GRCm39)	missense	unknown
IGL01120:Flg2	APN	3	93,108,475 (GRCm39)	missense	probably damaging	0.99
IGL01473:Flg2	APN	3	93,110,327 (GRCm39)	missense	unknown
IGL01584:Flg2	APN	3	93,122,777 (GRCm39)	missense	unknown
IGL01584:Flg2	APN	3	93,120,773 (GRCm39)	missense	unknown
IGL01686:Flg2	APN	3	93,109,591 (GRCm39)	missense	unknown
IGL02207:Flg2	APN	3	93,127,435 (GRCm39)	missense	unknown
IGL02294:Flg2	APN	3	93,111,053 (GRCm39)	missense	unknown
IGL02418:Flg2	APN	3	93,108,361 (GRCm39)	missense	probably benign	0.26
IGL02581:Flg2	APN	3	93,127,199 (GRCm39)	missense	unknown
IGL02719:Flg2	APN	3	93,127,438 (GRCm39)	nonsense	probably null
IGL02893:Flg2	APN	3	93,110,920 (GRCm39)	missense	unknown
IGL02958:Flg2	APN	3	93,110,920 (GRCm39)	missense	unknown
IGL03060:Flg2	APN	3	93,110,920 (GRCm39)	missense	unknown
IGL03088:Flg2	APN	3	93,110,498 (GRCm39)	missense	unknown
IGL03165:Flg2	APN	3	93,121,918 (GRCm39)	missense	unknown
IGL03342:Flg2	APN	3	93,108,542 (GRCm39)	missense	probably damaging	1.00
IGL03352:Flg2	APN	3	93,109,801 (GRCm39)	missense	unknown
IGL02796:Flg2	UTSW	3	93,110,920 (GRCm39)	missense	unknown
IGL02837:Flg2	UTSW	3	93,109,044 (GRCm39)	missense	probably damaging	1.00
PIT4618001:Flg2	UTSW	3	93,111,088 (GRCm39)	missense	unknown
R0087:Flg2	UTSW	3	93,109,738 (GRCm39)	missense	unknown
R0233:Flg2	UTSW	3	93,109,104 (GRCm39)	nonsense	probably null
R0233:Flg2	UTSW	3	93,109,104 (GRCm39)	nonsense	probably null
R0315:Flg2	UTSW	3	93,122,029 (GRCm39)	missense	unknown
R0390:Flg2	UTSW	3	93,107,662 (GRCm39)	splice site	probably benign
R0462:Flg2	UTSW	3	93,108,744 (GRCm39)	missense	probably benign	0.18
R0553:Flg2	UTSW	3	93,110,891 (GRCm39)	missense	unknown
R0828:Flg2	UTSW	3	93,110,639 (GRCm39)	missense	unknown
R1006:Flg2	UTSW	3	93,108,514 (GRCm39)	missense	probably benign	0.41
R1444:Flg2	UTSW	3	93,109,620 (GRCm39)	missense	unknown
R1497:Flg2	UTSW	3	93,127,076 (GRCm39)	missense	unknown
R1518:Flg2	UTSW	3	93,110,445 (GRCm39)	missense	unknown
R1737:Flg2	UTSW	3	93,110,928 (GRCm39)	missense	unknown
R1780:Flg2	UTSW	3	93,110,306 (GRCm39)	missense	unknown
R1797:Flg2	UTSW	3	93,108,283 (GRCm39)	missense	probably damaging	1.00
R2065:Flg2	UTSW	3	93,109,538 (GRCm39)	missense	unknown
R2168:Flg2	UTSW	3	93,109,244 (GRCm39)	missense	probably damaging	1.00
R2220:Flg2	UTSW	3	93,109,492 (GRCm39)	missense	unknown
R2292:Flg2	UTSW	3	93,127,984 (GRCm39)	missense	unknown
R2327:Flg2	UTSW	3	93,110,913 (GRCm39)	nonsense	probably null
R2512:Flg2	UTSW	3	93,109,082 (GRCm39)	missense	probably damaging	1.00
R3177:Flg2	UTSW	3	93,122,195 (GRCm39)	missense	unknown
R3277:Flg2	UTSW	3	93,122,195 (GRCm39)	missense	unknown
R3522:Flg2	UTSW	3	93,127,334 (GRCm39)	missense	unknown
R3779:Flg2	UTSW	3	93,109,730 (GRCm39)	missense	unknown
R3926:Flg2	UTSW	3	93,110,522 (GRCm39)	missense	unknown
R4082:Flg2	UTSW	3	93,110,828 (GRCm39)	missense	unknown
R4407:Flg2	UTSW	3	93,122,176 (GRCm39)	missense	unknown
R5152:Flg2	UTSW	3	93,122,284 (GRCm39)	missense	unknown
R5253:Flg2	UTSW	3	93,108,119 (GRCm39)	missense	probably damaging	1.00
R5290:Flg2	UTSW	3	93,127,873 (GRCm39)	missense	unknown
R5464:Flg2	UTSW	3	93,109,277 (GRCm39)	missense	possibly damaging	0.73
R5539:Flg2	UTSW	3	93,127,753 (GRCm39)	missense	unknown
R5622:Flg2	UTSW	3	93,109,871 (GRCm39)	missense	unknown
R5788:Flg2	UTSW	3	93,108,296 (GRCm39)	missense	probably benign	0.41
R5792:Flg2	UTSW	3	93,110,804 (GRCm39)	missense	unknown
R5831:Flg2	UTSW	3	93,107,541 (GRCm39)	missense	probably damaging	1.00
R5877:Flg2	UTSW	3	93,110,756 (GRCm39)	missense	unknown
R6041:Flg2	UTSW	3	93,127,668 (GRCm39)	missense	probably benign	0.01
R6189:Flg2	UTSW	3	93,127,381 (GRCm39)	missense	unknown
R6214:Flg2	UTSW	3	93,109,166 (GRCm39)	missense	possibly damaging	0.83
R6215:Flg2	UTSW	3	93,109,166 (GRCm39)	missense	possibly damaging	0.83
R6239:Flg2	UTSW	3	93,108,579 (GRCm39)	missense	probably benign	0.36
R6288:Flg2	UTSW	3	93,111,092 (GRCm39)	missense	unknown
R6413:Flg2	UTSW	3	93,127,683 (GRCm39)	missense	unknown
R6457:Flg2	UTSW	3	93,127,789 (GRCm39)	missense	unknown
R6468:Flg2	UTSW	3	93,121,728 (GRCm39)	missense	unknown
R6667:Flg2	UTSW	3	93,109,068 (GRCm39)	missense	possibly damaging	0.88
R6930:Flg2	UTSW	3	93,108,642 (GRCm39)	nonsense	probably null
R6996:Flg2	UTSW	3	93,110,256 (GRCm39)	missense	unknown
R6996:Flg2	UTSW	3	93,109,977 (GRCm39)	missense	unknown
R7100:Flg2	UTSW	3	93,111,018 (GRCm39)	missense	unknown
R7133:Flg2	UTSW	3	93,127,069 (GRCm39)	missense	unknown
R7180:Flg2	UTSW	3	93,110,140 (GRCm39)	missense	unknown
R7325:Flg2	UTSW	3	93,110,679 (GRCm39)	missense	unknown
R7349:Flg2	UTSW	3	93,127,513 (GRCm39)	missense	unknown
R7531:Flg2	UTSW	3	93,108,177 (GRCm39)	missense	probably damaging	0.99
R7571:Flg2	UTSW	3	93,127,303 (GRCm39)	nonsense	probably null
R7684:Flg2	UTSW	3	93,126,956 (GRCm39)	missense	unknown
R7810:Flg2	UTSW	3	93,107,548 (GRCm39)	missense	possibly damaging	0.70
R7853:Flg2	UTSW	3	93,128,054 (GRCm39)	missense	unknown
R8031:Flg2	UTSW	3	93,127,521 (GRCm39)	missense	unknown
R8078:Flg2	UTSW	3	93,107,582 (GRCm39)	missense	probably damaging	1.00
R8142:Flg2	UTSW	3	93,122,782 (GRCm39)	nonsense	probably null
R8156:Flg2	UTSW	3	93,127,390 (GRCm39)	missense	unknown
R8172:Flg2	UTSW	3	93,108,468 (GRCm39)	missense	possibly damaging	0.94
R8204:Flg2	UTSW	3	93,110,074 (GRCm39)	missense	unknown
R8262:Flg2	UTSW	3	93,127,517 (GRCm39)	missense	unknown
R8269:Flg2	UTSW	3	93,109,187 (GRCm39)	missense	possibly damaging	0.68
R8290:Flg2	UTSW	3	93,110,069 (GRCm39)	missense	unknown
R8444:Flg2	UTSW	3	93,107,585 (GRCm39)	missense	probably damaging	0.97
R8670:Flg2	UTSW	3	93,108,791 (GRCm39)	missense	probably damaging	0.97
R8755:Flg2	UTSW	3	93,108,120 (GRCm39)	missense	probably damaging	1.00
R9039:Flg2	UTSW	3	93,110,899 (GRCm39)	missense	unknown
R9116:Flg2	UTSW	3	93,109,591 (GRCm39)	missense	unknown
R9214:Flg2	UTSW	3	93,110,884 (GRCm39)	missense	unknown
R9231:Flg2	UTSW	3	93,109,508 (GRCm39)	missense	unknown
R9553:Flg2	UTSW	3	93,121,901 (GRCm39)	missense	unknown
R9607:Flg2	UTSW	3	93,108,719 (GRCm39)	missense	probably damaging	0.98
R9735:Flg2	UTSW	3	93,127,669 (GRCm39)	missense	unknown
R9752:Flg2	UTSW	3	93,108,467 (GRCm39)	missense	probably damaging	0.98
Z1177:Flg2	UTSW	3	93,110,045 (GRCm39)	missense	unknown
Z1177:Flg2	UTSW	3	93,109,727 (GRCm39)	missense	unknown

Posted On

2015-12-18