Mutagenetix > Incidental Mutation

Incidental Mutation 'R2327:Flg2'

245675

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

MMRRC Submission

040318-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R2327 (G1)

Quality Score

121

Status

Not validated

Chromosome

Chromosomal Location

93104585-93128698 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 93110913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 980 (Y980*)

Ref Sequence

ENSEMBL: ENSMUSP00000096482 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000098884
AA Change: Y980*

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: Y980*

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

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	T	14: 64,208,569 (GRCm39)		probably null	Het
Agbl4	T	G	4: 111,383,798 (GRCm39)	S218A	probably benign	Het
Apol11b	T	C	15: 77,522,153 (GRCm39)	E48G	probably damaging	Het
Atp4a	T	A	7: 30,419,666 (GRCm39)	N676K	probably benign	Het
Capn5	T	A	7: 97,775,574 (GRCm39)	S456C	probably benign	Het
Ccar1	T	C	10: 62,600,161 (GRCm39)	Y590C	probably damaging	Het
Ccdc188	G	T	16: 18,037,070 (GRCm39)	G283W	probably damaging	Het
Cd69	A	G	6: 129,248,351 (GRCm39)	V45A	probably damaging	Het
Col3a1	G	T	1: 45,377,771 (GRCm39)		probably benign	Het
Cyb561a3	A	T	19: 10,564,166 (GRCm39)	T169S	probably benign	Het
Cyp2c39	A	T	19: 39,527,397 (GRCm39)	I248L	probably benign	Het
Cyp2j13	T	C	4: 95,947,344 (GRCm39)	T236A	possibly damaging	Het
Efs	A	G	14: 55,154,961 (GRCm39)	V426A	probably benign	Het
Eme2	A	G	17: 25,113,157 (GRCm39)	L136S	probably damaging	Het
Fastkd1	T	A	2: 69,535,872 (GRCm39)	K312*	probably null	Het
Fbxl12	A	G	9: 20,553,530 (GRCm39)	L19P	probably damaging	Het
Fscn2	T	A	11: 120,257,527 (GRCm39)	I296N	probably damaging	Het
Gabrg3	A	G	7: 56,384,835 (GRCm39)	V242A	probably benign	Het
Galk2	A	G	2: 125,817,315 (GRCm39)	H368R	probably damaging	Het
Gm12695	C	T	4: 96,657,893 (GRCm39)	S92N	probably benign	Het
Gpalpp1	A	T	14: 76,336,031 (GRCm39)	S196T	probably benign	Het
Gpld1	A	T	13: 25,168,804 (GRCm39)	M773L	probably benign	Het
Haus8	A	G	8: 71,708,289 (GRCm39)		probably null	Het
Hirip3	A	G	7: 126,462,038 (GRCm39)	R19G	probably damaging	Het
Inpp4a	A	G	1: 37,405,247 (GRCm39)	T92A	probably damaging	Het
Irgm2	A	G	11: 58,111,218 (GRCm39)	D303G	probably damaging	Het
Kpna2rt	C	A	17: 90,217,697 (GRCm39)	R16S	probably benign	Het
Krtap5-2	T	G	7: 141,728,748 (GRCm39)	S311R	unknown	Het
Krtdap	T	A	7: 30,489,185 (GRCm39)		probably null	Het
Lce1g	G	T	3: 92,658,140 (GRCm39)	S56Y	unknown	Het
Lrrn1	G	A	6: 107,545,794 (GRCm39)	V531I	probably benign	Het
Mctp2	T	C	7: 71,861,358 (GRCm39)	E429G	probably damaging	Het
Mrgpra2b	T	G	7: 47,113,793 (GRCm39)	D287A	probably damaging	Het
Mterf3	T	C	13: 67,076,258 (GRCm39)	T150A	probably damaging	Het
Mtus2	A	G	5: 148,014,725 (GRCm39)	N506S	probably benign	Het
Myh15	G	T	16: 48,963,313 (GRCm39)	V1085L	probably benign	Het
Myo9a	A	G	9: 59,687,048 (GRCm39)	N51S	probably benign	Het
Nlrc3	A	T	16: 3,771,304 (GRCm39)	L196Q	probably damaging	Het
Nlrp9c	T	A	7: 26,074,747 (GRCm39)	N816I	probably damaging	Het
Nsun2	T	C	13: 69,767,700 (GRCm39)	V218A	probably benign	Het
Nt5dc1	T	C	10: 34,189,673 (GRCm39)	E339G	possibly damaging	Het
Or10ak14	C	T	4: 118,611,331 (GRCm39)	V135I	probably benign	Het
Or51b6b	A	G	7: 103,309,779 (GRCm39)	V226A	probably damaging	Het
Or8j3c	A	T	2: 86,253,165 (GRCm39)	L285*	probably null	Het
Pik3ap1	A	G	19: 41,284,828 (GRCm39)	I619T	probably damaging	Het
Plk1	A	G	7: 121,759,118 (GRCm39)	D118G	probably benign	Het
Ppat	T	C	5: 77,070,314 (GRCm39)	D168G	possibly damaging	Het
Preb	T	C	5: 31,115,849 (GRCm39)	E198G	probably damaging	Het
Psg21	T	C	7: 18,386,378 (GRCm39)	T203A	possibly damaging	Het
Rbm17	A	G	2: 11,602,942 (GRCm39)	V54A	probably damaging	Het
Rgma	T	A	7: 73,067,574 (GRCm39)	D276E	probably damaging	Het
Ric8a	T	C	7: 140,439,471 (GRCm39)	L77P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scarf1	A	C	11: 75,416,854 (GRCm39)	E765D	probably damaging	Het
Scart1	A	T	7: 139,803,890 (GRCm39)	N363Y	possibly damaging	Het
Sec14l4	G	A	11: 3,990,041 (GRCm39)	M113I	probably benign	Het
Senp1	C	T	15: 97,980,165 (GRCm39)	C60Y	probably damaging	Het
Slc22a21	T	A	11: 53,842,130 (GRCm39)	K549N	probably benign	Het
Slc39a10	T	C	1: 46,875,156 (GRCm39)	S49G	probably damaging	Het
Spata13	T	C	14: 60,947,004 (GRCm39)	M684T	probably damaging	Het
Spns1	T	C	7: 125,969,958 (GRCm39)	T481A	probably damaging	Het
Stag1	A	G	9: 100,668,666 (GRCm39)	Y198C	possibly damaging	Het
Tgfbr1	T	A	4: 47,402,833 (GRCm39)	V210E	probably damaging	Het
Tnc	C	T	4: 63,893,475 (GRCm39)	E1604K	possibly damaging	Het
Tspan31	T	C	10: 126,904,365 (GRCm39)	D143G	probably benign	Het
Tspan5	T	A	3: 138,603,903 (GRCm39)	Y131*	probably null	Het
Ttc21a	A	G	9: 119,795,189 (GRCm39)	D1070G	probably damaging	Het
Vmn2r26	C	T	6: 124,016,708 (GRCm39)	P391S	probably benign	Het
Vmn2r72	A	G	7: 85,387,464 (GRCm39)	I700T	probably damaging	Het
Vps13c	A	C	9: 67,821,102 (GRCm39)	N1204T	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCCAACATAGACATCCG -3'
(R):5'- ATGTCTTGCCTGACCCTGAC -3'

Sequencing Primer
(F):5'- TGGCCAACATAGACATCCGCTATC -3'
(R):5'- CAGTGACTGGATCCAGAATGTCTC -3'

Posted On

2014-10-30