Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02207:Flg2'

284516

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: 0.092) question?

Stock #

IGL02207

Quality Score

Status

Chromosome

Chromosomal Location

93104585-93128698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93127435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 2116 (I2116F)

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: I2116F

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: I2116F

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,992,993 (GRCm39)	E702G	probably damaging	Het
Adgre5	T	C	8: 84,454,913 (GRCm39)	T260A	probably damaging	Het
Agap3	A	T	5: 24,704,934 (GRCm39)	T660S	probably benign	Het
Amotl2	A	T	9: 102,601,896 (GRCm39)	E380V	probably damaging	Het
Ap4e1	A	G	2: 126,853,736 (GRCm39)	E58G	probably damaging	Het
Arap3	G	A	18: 38,120,906 (GRCm39)	A713V	probably benign	Het
B4galt2	T	C	4: 117,738,718 (GRCm39)	D33G	probably damaging	Het
Bbs7	A	T	3: 36,658,639 (GRCm39)	S212T	probably benign	Het
Ccl26	A	G	5: 135,592,224 (GRCm39)	Y38H	probably benign	Het
Ccne2	A	T	4: 11,202,261 (GRCm39)	S339C	probably benign	Het
Cd55	A	G	1: 130,380,156 (GRCm39)	V274A	possibly damaging	Het
Cenpw	T	G	10: 30,074,577 (GRCm39)		probably null	Het
Cert1	T	C	13: 96,761,300 (GRCm39)		probably null	Het
Chrnb4	T	C	9: 54,942,500 (GRCm39)	D258G	probably damaging	Het
Commd3	T	C	2: 18,678,819 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2b23	C	A	7: 26,381,180 (GRCm39)	R59L	probably damaging	Het
Edar	G	T	10: 58,446,343 (GRCm39)	T194K	probably damaging	Het
Edem3	A	G	1: 151,684,111 (GRCm39)	I733V	possibly damaging	Het
Elmod2	T	C	8: 84,048,135 (GRCm39)	Y109C	probably benign	Het
Eps15	C	T	4: 109,161,945 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,005,412 (GRCm39)	V1937A	probably benign	Het
Fdx2	T	A	9: 20,979,415 (GRCm39)		probably null	Het
Gm15091	A	G	X: 148,760,462 (GRCm39)	D424G	possibly damaging	Het
Gm16380	T	A	9: 53,791,823 (GRCm39)		noncoding transcript	Het
Gpn2	G	A	4: 133,311,947 (GRCm39)	V60M	possibly damaging	Het
Grip1	G	A	10: 119,911,214 (GRCm39)	R1044K	probably damaging	Het
H2-D1	T	A	17: 35,482,390 (GRCm39)	S37T	possibly damaging	Het
Havcr1	C	T	11: 46,669,403 (GRCm39)	A294V	probably benign	Het
Herc4	G	A	10: 63,135,023 (GRCm39)		probably null	Het
Ift140	A	G	17: 25,274,572 (GRCm39)	Y748C	probably benign	Het
Il20ra	A	G	10: 19,627,326 (GRCm39)	T242A	probably damaging	Het
Ilvbl	G	A	10: 78,419,536 (GRCm39)		probably null	Het
Kif18a	A	T	2: 109,127,052 (GRCm39)	I329L	probably damaging	Het
Kmt2a	T	A	9: 44,758,979 (GRCm39)	I957F	probably damaging	Het
Krt1	A	G	15: 101,757,051 (GRCm39)	I282T	possibly damaging	Het
Lamb1	T	G	12: 31,379,434 (GRCm39)	V1768G	probably damaging	Het
Nek9	A	T	12: 85,350,257 (GRCm39)	L939*	probably null	Het
Nfe2l2	A	G	2: 75,508,869 (GRCm39)	L122P	probably damaging	Het
Nin	T	C	12: 70,103,431 (GRCm39)	M270V	probably damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Nrde2	T	C	12: 100,097,190 (GRCm39)	Y870C	probably benign	Het
Nsmce2	A	G	15: 59,287,927 (GRCm39)	M71V	probably benign	Het
Ocstamp	T	C	2: 165,239,583 (GRCm39)	H201R	possibly damaging	Het
Oog4	T	C	4: 143,165,510 (GRCm39)	I212M	probably benign	Het
Or11g2	G	A	14: 50,856,015 (GRCm39)	G112D	probably damaging	Het
Or12e7	A	G	2: 87,287,794 (GRCm39)	D95G	probably benign	Het
Osmr	T	C	15: 6,876,628 (GRCm39)	T99A	probably benign	Het
Pdia4	A	T	6: 47,773,741 (GRCm39)	M536K	probably benign	Het
Pdyn	A	T	2: 129,530,438 (GRCm39)	L77H	probably damaging	Het
Pikfyve	T	C	1: 65,290,837 (GRCm39)		probably null	Het
Plcb1	A	G	2: 135,229,091 (GRCm39)	E1105G	probably damaging	Het
Rb1	A	T	14: 73,443,525 (GRCm39)	D743E	probably damaging	Het
Rdh14	G	A	12: 10,444,712 (GRCm39)	V188I	possibly damaging	Het
Scd3	T	C	19: 44,204,028 (GRCm39)	V72A	possibly damaging	Het
Shld1	A	T	2: 132,533,866 (GRCm39)		probably benign	Het
Slc25a27	G	A	17: 43,972,575 (GRCm39)	R104W	probably damaging	Het
Slc29a4	A	G	5: 142,704,640 (GRCm39)	D394G	possibly damaging	Het
Slco1a8	A	T	6: 141,936,158 (GRCm39)	I309N	possibly damaging	Het
Snx29	T	G	16: 11,556,216 (GRCm39)	M407R	probably damaging	Het
Syf2	A	G	4: 134,662,363 (GRCm39)		probably null	Het
Syn1	T	C	X: 20,731,376 (GRCm39)	Q321R	probably benign	Het
Tbc1d12	A	T	19: 38,905,091 (GRCm39)	D602V	probably damaging	Het
Tenm4	A	T	7: 96,523,323 (GRCm39)	I1585F	possibly damaging	Het
Tgfbr1	A	G	4: 47,410,785 (GRCm39)		probably benign	Het
Trav6-2	G	A	14: 52,904,889 (GRCm39)	V8M	possibly damaging	Het
Unc119b	A	G	5: 115,272,813 (GRCm39)	S53P	probably benign	Het
Vmp1	T	A	11: 86,498,019 (GRCm39)	I299F	possibly damaging	Het
Xpot	T	C	10: 121,449,485 (GRCm39)	Y194C	probably damaging	Het
Zbtb10	T	A	3: 9,345,525 (GRCm39)		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
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
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