Mutagenetix > Incidental Mutation

Incidental Mutation 'R6189:Flg2'

502361

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

MMRRC Submission

044329-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R6189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93220074 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 2098 (C2098S)

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: C2098S

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: C2098S

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	G	17: 48,167,054 (GRCm38)		probably benign	Het
Abca8a	T	C	11: 110,030,884 (GRCm38)	D1448G	probably damaging	Het
Actn2	C	T	13: 12,276,440 (GRCm38)	D693N	probably damaging	Het
Adam3	A	C	8: 24,711,336 (GRCm38)	I267R	probably benign	Het
Akap2	A	G	4: 57,855,928 (GRCm38)	E419G	probably benign	Het
Aldh1l2	A	G	10: 83,508,013 (GRCm38)		probably null	Het
C4bp	T	C	1: 130,636,819 (GRCm38)	Y376C	probably damaging	Het
Cacna1h	A	G	17: 25,397,844 (GRCm38)	W101R	probably damaging	Het
Ccdc97	T	A	7: 25,716,098 (GRCm38)	T47S	probably benign	Het
Cenatac	G	A	9: 44,410,321 (GRCm38)	R328C	probably benign	Het
Cnot6l	G	A	5: 96,098,277 (GRCm38)	T171I	probably benign	Het
Cntnap2	T	A	6: 47,271,298 (GRCm38)	S1213T	probably damaging	Het
Cxcl10	A	T	5: 92,348,113 (GRCm38)	L55Q	probably benign	Het
Cyp1a1	T	C	9: 57,700,683 (GRCm38)	V198A	probably damaging	Het
Dclre1b	A	G	3: 103,803,533 (GRCm38)	V354A	probably damaging	Het
Dmxl1	C	T	18: 49,893,335 (GRCm38)	H1837Y	probably benign	Het
Dnajc13	G	C	9: 104,213,886 (GRCm38)	D665E	probably benign	Het
Dnmbp	T	A	19: 43,901,511 (GRCm38)	T606S	probably benign	Het
Dnmbp	T	C	19: 43,890,309 (GRCm38)	T108A	probably benign	Het
Dok5	T	A	2: 170,800,851 (GRCm38)	I23N	probably damaging	Het
Eml2	G	A	7: 19,201,163 (GRCm38)	V432I	probably damaging	Het
Epha5	A	T	5: 84,237,540 (GRCm38)	F311I	probably damaging	Het
Erbb4	T	A	1: 68,043,916 (GRCm38)	M1059L	probably benign	Het
Fbxo40	A	G	16: 36,966,164 (GRCm38)	I681T	probably benign	Het
Gpr87	T	A	3: 59,179,229 (GRCm38)	D285V	probably damaging	Het
Hrh1	T	A	6: 114,479,998 (GRCm38)	V80D	probably damaging	Het
Hunk	G	A	16: 90,487,881 (GRCm38)	R351K	probably benign	Het
Ifna12	A	G	4: 88,603,011 (GRCm38)	W100R	probably damaging	Het
Ift57	G	A	16: 49,763,813 (GRCm38)	G310S	probably damaging	Het
Igf1r	T	A	7: 68,207,336 (GRCm38)	Y1015*	probably null	Het
Igkv14-130	T	C	6: 67,791,448 (GRCm38)	I96T	probably damaging	Het
Il34	C	T	8: 110,742,718 (GRCm38)	S155N	probably benign	Het
Itga7	T	C	10: 128,950,403 (GRCm38)	S938P	possibly damaging	Het
Itgam	A	G	7: 128,112,504 (GRCm38)	M764V	probably benign	Het
Lao1	T	A	4: 118,967,880 (GRCm38)	M299K	probably benign	Het
Lnpep	A	T	17: 17,566,739 (GRCm38)	S533T	possibly damaging	Het
Lrp4	T	C	2: 91,475,234 (GRCm38)	V283A	possibly damaging	Het
Magi3	G	T	3: 104,050,865 (GRCm38)	H635N	probably damaging	Het
Mecr	A	T	4: 131,865,254 (GRCm38)		probably null	Het
Mgrn1	T	C	16: 4,910,810 (GRCm38)		probably null	Het
Micalcl	A	C	7: 112,412,880 (GRCm38)	N646H	probably damaging	Het
Mymk	C	T	2: 27,067,365 (GRCm38)	V39I	possibly damaging	Het
Nav3	T	C	10: 109,720,019 (GRCm38)	S1684G	probably damaging	Het
Ntn5	A	T	7: 45,693,220 (GRCm38)	D330V	probably benign	Het
Nup42	G	T	5: 24,175,454 (GRCm38)	G149V	probably damaging	Het
Nutm2	T	A	13: 50,469,738 (GRCm38)	V157D	possibly damaging	Het
Obscn	T	C	11: 59,069,934 (GRCm38)	I3460V	probably benign	Het
Or8u10	A	T	2: 86,084,913 (GRCm38)	M288K	possibly damaging	Het
Pcdh15	C	T	10: 74,342,651 (GRCm38)	A580V	probably null	Het
Pcdhb10	T	A	18: 37,412,403 (GRCm38)	H177Q	probably damaging	Het
Pitx2	T	C	3: 129,218,469 (GRCm38)	Y130H	probably damaging	Het
Pmch	G	T	10: 88,091,386 (GRCm38)		probably null	Het
Pofut2	T	A	10: 77,268,586 (GRCm38)	I399N	probably damaging	Het
Prr36	C	A	8: 4,214,177 (GRCm38)		probably benign	Het
Ptprq	C	A	10: 107,517,887 (GRCm38)	C2256F	probably damaging	Het
Rassf5	G	A	1: 131,244,979 (GRCm38)	A51V	probably damaging	Het
Retnla	A	G	16: 48,842,895 (GRCm38)	I54V	probably benign	Het
Rimbp2	A	G	5: 128,803,897 (GRCm38)	L142P	probably benign	Het
Ripk1	A	G	13: 34,032,501 (GRCm38)	T564A	probably benign	Het
Robo4	G	A	9: 37,403,533 (GRCm38)	E228K	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,579,906 (GRCm38)		probably benign	Homo
Rusc1	A	T	3: 89,089,012 (GRCm38)	L132Q	probably damaging	Het
Serpinb9h	A	T	13: 33,404,444 (GRCm38)	E337D	probably benign	Het
Setd1a	T	C	7: 127,778,283 (GRCm38)		probably null	Het
Slc38a6	A	T	12: 73,310,196 (GRCm38)	K122M	probably damaging	Het
Speer4a2	A	G	5: 26,085,693 (GRCm38)	I160T	probably benign	Het
Susd5	A	T	9: 114,095,658 (GRCm38)	D203V	probably damaging	Het
Trip4	G	A	9: 65,879,152 (GRCm38)	R110*	probably null	Het
Tuba4a	T	A	1: 75,216,874 (GRCm38)	I95F	probably benign	Het
Ube2q2	T	A	9: 55,162,983 (GRCm38)	S70T	probably benign	Het
Umodl1	A	G	17: 30,996,282 (GRCm38)	I1027V	possibly damaging	Het
Unc80	G	A	1: 66,677,471 (GRCm38)	V2917I	probably benign	Het
Vmn1r70	T	A	7: 10,633,671 (GRCm38)	C29S	probably benign	Het
Vmn2r94	A	T	17: 18,257,734 (GRCm38)	D138E	probably benign	Het
Wee2	C	T	6: 40,449,683 (GRCm38)	H129Y	probably damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,412,514 (GRCm38)		probably benign	Het
Zfp872	A	T	9: 22,197,131 (GRCm38)	D42V	probably benign	Het
Zic5	T	G	14: 122,464,974 (GRCm38)	D115A	unknown	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
IGL00985:Flg2	APN	3	93,203,278 (GRCm38)	missense	unknown
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
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

Predicted Primers

PCR Primer
(F):5'- GTAGACTTTCTGGCCATTATGGAAG -3'
(R):5'- AGGTACTACTACAGAATGGCCATG -3'

Sequencing Primer
(F):5'- CTTTCTGGCCATTATGGAAGAAATC -3'
(R):5'- TGGCCATGACTACACTCATG -3'

Posted On

2018-02-27