Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00985:Flg2'

306666

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 #

IGL00985

Quality Score

Status

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93203278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 871 (Y871F)

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: Y871F

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: Y871F

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630091E08Rik	G	T	7: 98,543,918 (GRCm38)		noncoding transcript	Het
Abca15	G	A	7: 120,397,018 (GRCm38)	G1389E	probably damaging	Het
Adcy3	T	C	12: 4,134,600 (GRCm38)	V92A	probably damaging	Het
Aoc1l1	A	G	6: 48,977,547 (GRCm38)	S540G	probably benign	Het
Aplnr	A	T	2: 85,137,663 (GRCm38)	Y344F	probably benign	Het
Atm	A	T	9: 53,459,816 (GRCm38)	V2241E	probably damaging	Het
Cep290	T	C	10: 100,567,161 (GRCm38)		probably benign	Het
Cnpy1	A	T	5: 28,209,154 (GRCm38)	Y91*	probably null	Het
Cobl	C	A	11: 12,254,843 (GRCm38)	G613W	probably damaging	Het
Csn1s2a	T	C	5: 87,784,580 (GRCm38)	S121P	possibly damaging	Het
Gapvd1	T	A	2: 34,695,563 (GRCm38)	D1008V	probably damaging	Het
Gask1a	T	C	9: 121,978,335 (GRCm38)	L515P	probably damaging	Het
Igfl3	T	C	7: 18,180,075 (GRCm38)		probably null	Het
Kmt2b	A	T	7: 30,579,927 (GRCm38)	V1470E	probably damaging	Het
Mcc	A	T	18: 44,491,239 (GRCm38)	L413Q	probably damaging	Het
Mia2	G	A	12: 59,188,360 (GRCm38)	G610D	probably damaging	Het
Mlst8	A	T	17: 24,477,313 (GRCm38)	D147E	probably damaging	Het
Muc19	G	T	15: 91,886,749 (GRCm38)		noncoding transcript	Het
Mybpc3	A	G	2: 91,135,359 (GRCm38)	E1172G	probably benign	Het
Niban3	T	C	8: 71,604,863 (GRCm38)		probably benign	Het
Nop14	A	T	5: 34,644,789 (GRCm38)	L557Q	probably damaging	Het
P3h3	T	C	6: 124,845,589 (GRCm38)	T540A	probably benign	Het
Phc3	T	A	3: 30,914,197 (GRCm38)	I897F	probably benign	Het
Plekhh2	G	A	17: 84,563,928 (GRCm38)	V205I	probably benign	Het
Poc5	A	G	13: 96,410,746 (GRCm38)	K506E	probably damaging	Het
Pum1	C	A	4: 130,743,789 (GRCm38)	T450K	probably damaging	Het
Retnlg	G	A	16: 48,874,325 (GRCm38)	R112H	possibly damaging	Het
Rgl2	T	C	17: 33,932,101 (GRCm38)	V101A	probably damaging	Het
Serinc5	A	G	13: 92,706,271 (GRCm38)	T410A	probably damaging	Het
Shroom1	T	C	11: 53,465,969 (GRCm38)	V553A	probably benign	Het
Slco4c1	A	T	1: 96,841,187 (GRCm38)	W317R	probably damaging	Het
Snap91	T	C	9: 86,821,737 (GRCm38)	T268A	probably benign	Het
Supt16	T	C	14: 52,161,691 (GRCm38)	K1044E	possibly damaging	Het
Tarbp1	A	T	8: 126,459,161 (GRCm38)	L431I	probably damaging	Het
Tas2r124	C	T	6: 132,755,529 (GRCm38)	T267I	probably benign	Het
Tm7sf3	C	T	6: 146,606,194 (GRCm38)	V457I	possibly damaging	Het
Tmem132c	A	T	5: 127,504,866 (GRCm38)	S382C	probably damaging	Het
Tmprss7	C	A	16: 45,662,322 (GRCm38)	C582F	probably damaging	Het
Tsc2	T	C	17: 24,597,131 (GRCm38)	E1694G	probably damaging	Het
Txndc2	G	T	17: 65,638,549 (GRCm38)	S211Y	possibly damaging	Het
Ubr3	A	C	2: 70,003,431 (GRCm38)	T205P	probably damaging	Het
Vmn2r116	G	A	17: 23,401,515 (GRCm38)	G741D	probably damaging	Het
Vps8	G	A	16: 21,477,584 (GRCm38)		probably benign	Het
Wdr19	G	A	5: 65,252,299 (GRCm38)	D1127N	probably benign	Het
Zim1	T	A	7: 6,682,760 (GRCm38)	Y83F	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
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
IGL02795:Flg2	APN	3	93,203,613 (GRCm38)	missense	unknown
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

2015-04-16