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: 0.085) question?

Stock #

IGL02795

Quality Score

Status

Chromosome

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

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: 71,288,748 (GRCm38)	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,361,642 (GRCm38)		probably benign	Het
Acvr1	A	G	2: 58,462,952 (GRCm38)	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,033,742 (GRCm38)	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,460,616 (GRCm38)		probably null	Het
Btnl9	A	T	11: 49,174,867 (GRCm38)		probably benign	Het
Dbx1	T	A	7: 49,636,577 (GRCm38)	I47F	probably benign	Het
Dnaja3	A	G	16: 4,690,073 (GRCm38)		probably benign	Het
Dnmt1	T	C	9: 20,927,111 (GRCm38)	S220G	probably benign	Het
Dock9	A	T	14: 121,639,978 (GRCm38)	M451K	probably benign	Het
Eml3	A	G	19: 8,933,778 (GRCm38)	Y257C	probably benign	Het
Fbxw19	C	A	9: 109,495,818 (GRCm38)	M10I	possibly damaging	Het
Galnt5	C	A	2: 58,027,871 (GRCm38)	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331 (GRCm38)	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,862,673 (GRCm38)		probably benign	Het
Gpr45	C	T	1: 43,032,493 (GRCm38)	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,322,517 (GRCm38)	S302L	probably damaging	Het
Hrg	T	C	16: 22,957,553 (GRCm38)		probably benign	Het
Kdelc2	A	G	9: 53,392,105 (GRCm38)	D99G	probably damaging	Het
Lama1	A	G	17: 67,738,894 (GRCm38)		probably null	Het
Lgr4	T	C	2: 110,008,210 (GRCm38)		probably benign	Het
Lrrc9	C	T	12: 72,478,768 (GRCm38)	T830M	probably damaging	Het
Mdga2	T	C	12: 66,689,432 (GRCm38)	T341A	probably benign	Het
Mms19	C	T	19: 41,952,406 (GRCm38)		probably null	Het
Nectin1	A	G	9: 43,803,552 (GRCm38)	S362G	probably benign	Het
Nlrc3	G	T	16: 3,965,285 (GRCm38)	H87N	probably damaging	Het
Oit1	T	A	14: 8,355,497 (GRCm38)	M113L	probably benign	Het
Olfr1018	T	A	2: 85,823,512 (GRCm38)	C180*	probably null	Het
Olfr142	A	G	2: 90,252,562 (GRCm38)	L142P	probably damaging	Het
Olfr183	G	T	16: 59,000,277 (GRCm38)	L197F	possibly damaging	Het
Olfr23	G	A	11: 73,940,929 (GRCm38)	V228I	probably benign	Het
Olfr243	T	A	7: 103,716,883 (GRCm38)	F96L	probably benign	Het
Pcsk1	G	T	13: 75,112,620 (GRCm38)	G321C	probably damaging	Het
Prrc2c	G	T	1: 162,714,299 (GRCm38)	P374T	probably benign	Het
Rusc1	A	T	3: 89,091,950 (GRCm38)	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,595,190 (GRCm38)	N4250S	probably benign	Het
Scara5	A	C	14: 65,730,680 (GRCm38)	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,703,411 (GRCm38)	K595R	probably benign	Het
Serpinb6a	A	C	13: 33,931,593 (GRCm38)	L15R	probably damaging	Het
Setdb1	A	T	3: 95,327,373 (GRCm38)	N1006K	probably damaging	Het
Slc18a2	G	A	19: 59,274,490 (GRCm38)		probably benign	Het
Slc22a30	C	T	19: 8,400,895 (GRCm38)	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,647,112 (GRCm38)	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,575,419 (GRCm38)	D611V	probably benign	Het
Spag6	G	T	2: 18,733,083 (GRCm38)	V255F	probably benign	Het
St5	T	C	7: 109,556,364 (GRCm38)	Y393C	probably damaging	Het
Svep1	C	A	4: 58,123,223 (GRCm38)	G698W	probably damaging	Het
Syne2	T	C	12: 75,966,549 (GRCm38)	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,545,959 (GRCm38)	E58G	possibly damaging	Het
Trim24	A	T	6: 37,919,389 (GRCm38)	E260D	probably damaging	Het
Ugt2b1	T	A	5: 86,917,701 (GRCm38)	D493V	probably damaging	Het
Vmn1r27	A	G	6: 58,215,302 (GRCm38)	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,085,277 (GRCm38)	Q74R	probably benign	Het
Vps25	A	G	11: 101,256,090 (GRCm38)	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,509,136 (GRCm38)	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,837,438 (GRCm38)	E273G	possibly damaging	Het

Other mutations in Flg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02893:Flg2	APN	3	93,203,613 (GRCm38)	missense	unknown
IGL02958: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