Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02719:Flg2'

304899

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 #

IGL02719

Quality Score

Status

Chromosome

Chromosomal Location

93104585-93128698 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 93127438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 97 (G97*)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000098884
AA Change: G2117*

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: G2117*

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

probably null
Transcript: ENSMUST00000194443
AA Change: G97*

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,632,150 (GRCm39)	D160G	probably damaging	Het
Aak1	A	G	6: 86,936,152 (GRCm39)		probably benign	Het
Anp32e	A	G	3: 95,845,224 (GRCm39)		probably benign	Het
Aspscr1	T	A	11: 120,568,405 (GRCm39)	L61Q	probably damaging	Het
Btrc	A	G	19: 45,491,589 (GRCm39)	I89M	probably damaging	Het
Ccdc175	G	A	12: 72,221,899 (GRCm39)	T141M	probably damaging	Het
Cep70	G	A	9: 99,157,775 (GRCm39)	V225I	probably damaging	Het
Cilk1	A	G	9: 78,047,301 (GRCm39)	E67G	probably damaging	Het
Col4a1	T	C	8: 11,281,950 (GRCm39)		probably benign	Het
Cpne1	T	C	2: 155,920,137 (GRCm39)	Y214C	probably damaging	Het
Crtc3	T	C	7: 80,268,406 (GRCm39)		probably null	Het
Cul2	C	T	18: 3,434,052 (GRCm39)	A683V	probably damaging	Het
Ddx47	A	G	6: 134,994,114 (GRCm39)	N131D	probably benign	Het
Dnah7b	T	G	1: 46,138,768 (GRCm39)		probably benign	Het
Dnai2	T	C	11: 114,642,737 (GRCm39)	L446P	probably damaging	Het
Ergic2	T	C	6: 148,106,317 (GRCm39)	T58A	possibly damaging	Het
Erlin2	A	G	8: 27,519,703 (GRCm39)		probably benign	Het
Fermt2	T	C	14: 45,742,113 (GRCm39)	T78A	probably damaging	Het
Gm7356	A	G	17: 14,221,537 (GRCm39)	I164T	probably damaging	Het
Gucy1a2	T	A	9: 3,894,719 (GRCm39)		probably benign	Het
Heatr5b	C	T	17: 79,122,969 (GRCm39)	R670H	probably damaging	Het
Hspa4l	T	C	3: 40,727,090 (GRCm39)	V476A	possibly damaging	Het
Itpkc	A	T	7: 26,927,475 (GRCm39)	D146E	possibly damaging	Het
Kcnk3	T	C	5: 30,779,324 (GRCm39)	F125L	probably damaging	Het
Kif12	T	A	4: 63,086,033 (GRCm39)	M411L	probably benign	Het
Krtap24-1	T	C	16: 88,409,094 (GRCm39)	S11G	probably benign	Het
Lilra6	A	T	7: 3,915,991 (GRCm39)	H289Q	possibly damaging	Het
Musk	A	C	4: 58,356,496 (GRCm39)	N469H	probably benign	Het
Myom1	A	G	17: 71,413,349 (GRCm39)		probably benign	Het
Nagpa	A	G	16: 5,019,357 (GRCm39)	V46A	possibly damaging	Het
Or4k37	T	A	2: 111,159,590 (GRCm39)	Y275*	probably null	Het
Or5h25	T	A	16: 58,930,536 (GRCm39)	T146S	probably benign	Het
Or8g17	T	C	9: 38,930,312 (GRCm39)	N175S	probably benign	Het
Parp6	T	A	9: 59,538,021 (GRCm39)	V222E	probably benign	Het
Pde3b	T	A	7: 114,105,483 (GRCm39)	S472T	probably damaging	Het
Peak1	A	G	9: 56,134,490 (GRCm39)	S1314P	probably damaging	Het
Pgc	A	G	17: 48,039,792 (GRCm39)	Y62C	probably damaging	Het
Pitpnm2	A	G	5: 124,278,665 (GRCm39)	C189R	probably damaging	Het
Pla2g15	G	T	8: 106,886,828 (GRCm39)	Q106H	probably benign	Het
Pla2g4c	T	A	7: 13,064,019 (GRCm39)	S93T	probably damaging	Het
Rbks	G	T	5: 31,809,145 (GRCm39)		probably benign	Het
Retsat	A	G	6: 72,580,642 (GRCm39)	T207A	possibly damaging	Het
Slc25a32	A	G	15: 38,963,300 (GRCm39)	Y174H	probably benign	Het
Slc35f2	T	A	9: 53,717,026 (GRCm39)		probably benign	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sos2	A	G	12: 69,663,958 (GRCm39)	Y476H	probably benign	Het
Ssh2	A	T	11: 77,316,413 (GRCm39)	N296I	probably damaging	Het
Sspo	G	T	6: 48,459,601 (GRCm39)	R3320L	probably benign	Het
Synj2	A	G	17: 6,047,192 (GRCm39)	I166V	probably benign	Het
Tpp2	T	C	1: 43,979,391 (GRCm39)	V96A	probably benign	Het
Vmn2r3	A	T	3: 64,183,031 (GRCm39)	W223R	probably damaging	Het
Wdr17	T	C	8: 55,146,089 (GRCm39)		probably null	Het
Zfr2	T	A	10: 81,080,546 (GRCm39)	C407S	probably 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
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
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

2015-04-16