Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03342:Flg2'

417263

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 #

IGL03342

Quality Score

Status

Chromosome

Chromosomal Location

93104585-93128698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93108542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 190 (K190R)

Ref Sequence

ENSEMBL: ENSMUSP00000096482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098884] [ENSMUST00000194707]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000098884
AA Change: K190R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: K190R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,178,517 (GRCm39)	T1152M	possibly damaging	Het
Abcg2	G	T	6: 58,642,120 (GRCm39)	R136I	probably damaging	Het
Acap2	A	G	16: 30,924,310 (GRCm39)	V641A	probably damaging	Het
Afg3l2	A	T	18: 67,540,390 (GRCm39)	D706E	probably benign	Het
Bbs1	A	T	19: 4,947,621 (GRCm39)	L311Q	probably damaging	Het
Cacna1e	A	G	1: 154,342,690 (GRCm39)		probably null	Het
Car2	A	T	3: 14,960,629 (GRCm39)	D129V	probably benign	Het
Catsper2	T	C	2: 121,237,217 (GRCm39)	I228V	probably damaging	Het
Cdhr3	C	A	12: 33,101,054 (GRCm39)	R452M	probably benign	Het
Chrm1	A	T	19: 8,656,672 (GRCm39)	Q459L	probably benign	Het
Cnbd1	C	T	4: 19,098,264 (GRCm39)		probably benign	Het
Coa7	A	G	4: 108,189,426 (GRCm39)	D42G	probably damaging	Het
Ctsz	T	C	2: 174,270,933 (GRCm39)	Y187C	possibly damaging	Het
Cxcr6	C	T	9: 123,639,472 (GRCm39)	Q165*	probably null	Het
Cyp3a11	G	A	5: 145,791,927 (GRCm39)	P489S	probably damaging	Het
Cyp4f15	A	T	17: 32,916,910 (GRCm39)	I276F	probably damaging	Het
Dsg1b	T	A	18: 20,542,517 (GRCm39)	M1008K	probably benign	Het
Dsg4	T	A	18: 20,584,880 (GRCm39)	I198N	probably damaging	Het
Dtymk	C	A	1: 93,722,541 (GRCm39)	E87D	probably benign	Het
Dysf	T	A	6: 84,167,854 (GRCm39)	D1749E	probably benign	Het
Dzip3	G	T	16: 48,749,986 (GRCm39)	Q1050K	probably damaging	Het
Echs1	C	T	7: 139,690,026 (GRCm39)		probably benign	Het
Enc1	T	A	13: 97,382,978 (GRCm39)	I496N	possibly damaging	Het
Epc2	A	T	2: 49,426,658 (GRCm39)	Y139F	probably benign	Het
Exo1	A	T	1: 175,719,693 (GRCm39)	N246I	probably benign	Het
Gm5424	A	T	10: 61,907,971 (GRCm39)		noncoding transcript	Het
Gpbp1l1	A	C	4: 116,431,740 (GRCm39)	T133P	probably benign	Het
Gpr155	A	G	2: 73,180,022 (GRCm39)	F146S	probably damaging	Het
Grm1	T	A	10: 10,955,715 (GRCm39)	I190L	probably benign	Het
Hif3a	C	T	7: 16,775,047 (GRCm39)	R515H	possibly damaging	Het
Itprid2	G	A	2: 79,490,796 (GRCm39)	M971I	probably damaging	Het
Kdm5b	G	A	1: 134,530,314 (GRCm39)	D442N	probably benign	Het
Manba	A	T	3: 135,223,748 (GRCm39)	I212F	possibly damaging	Het
Map3k13	A	G	16: 21,710,981 (GRCm39)	E88G	possibly damaging	Het
Mapk7	A	G	11: 61,382,216 (GRCm39)	L163P	probably damaging	Het
Med1	A	T	11: 98,080,006 (GRCm39)		probably null	Het
Mtrf1	T	A	14: 79,653,312 (GRCm39)		probably null	Het
Mtrf1	A	G	14: 79,653,420 (GRCm39)	D365G	possibly damaging	Het
Mtrf1	C	T	14: 79,653,311 (GRCm39)		probably benign	Het
Myadm	C	T	7: 3,345,403 (GRCm39)	T55I	possibly damaging	Het
Nlgn1	A	T	3: 26,187,411 (GRCm39)	I158N	probably damaging	Het
Nlrc4	A	G	17: 74,752,313 (GRCm39)	L690P	probably damaging	Het
Nlrp1a	A	T	11: 71,013,617 (GRCm39)	D544E	probably benign	Het
Nlrp2	A	T	7: 5,320,482 (GRCm39)	L20Q	probably damaging	Het
Or1e30	T	A	11: 73,678,309 (GRCm39)	S182T	probably benign	Het
Or8k21	A	T	2: 86,145,579 (GRCm39)	I17N	possibly damaging	Het
Or9i16	A	G	19: 13,864,801 (GRCm39)	Y258H	probably damaging	Het
Padi3	G	A	4: 140,537,909 (GRCm39)	Q4*	probably null	Het
Pfkl	A	T	10: 77,841,309 (GRCm39)	I13K	possibly damaging	Het
Pinx1	A	G	14: 64,157,018 (GRCm39)	D315G	probably benign	Het
Prickle3	A	G	X: 7,529,735 (GRCm39)	D47G	probably benign	Het
Psmd10	A	T	X: 139,857,403 (GRCm39)	V5E	probably damaging	Het
Rasgrf2	C	A	13: 92,136,098 (GRCm39)	V605F	probably damaging	Het
Smarca1	G	T	X: 46,981,146 (GRCm39)	A84D	probably damaging	Het
Sp2	A	G	11: 96,852,588 (GRCm39)	V112A	probably damaging	Het
Srgap3	G	A	6: 112,752,648 (GRCm39)	R279C	probably damaging	Het
Trav21-dv12	T	C	14: 54,113,501 (GRCm39)	L10P	unknown	Het
Vmn1r236	A	T	17: 21,507,236 (GRCm39)	H118L	probably benign	Het
Vmn2r120	A	G	17: 57,816,372 (GRCm39)	M661T	probably benign	Het
Vmn2r17	A	T	5: 109,575,782 (GRCm39)	I218F	probably damaging	Het
Vmn2r41	G	T	7: 8,141,682 (GRCm39)	A594D	probably damaging	Het
Zc2hc1a	A	G	3: 7,589,283 (GRCm39)	E103G	possibly damaging	Het
Zfp62	G	T	11: 49,106,298 (GRCm39)	G130*	probably null	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
IGL02795:Flg2	APN	3	93,110,920 (GRCm39)	missense	unknown
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
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

2016-08-02