Mutagenetix > Incidental Mutations

Incidental Mutation 'R6457:Flg2'

516513

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R6457 (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 93220482 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 2234 (S2234T)

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: S2234T

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: S2234T

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,066,622	V524E	probably damaging	Het
Acer2	T	A	4: 86,900,571	M152K	probably damaging	Het
Actn3	T	C	19: 4,871,848	D130G	probably damaging	Het
Ank1	T	A	8: 23,087,967	F211Y	probably damaging	Het
Ankfn1	C	T	11: 89,391,844	A326T	probably benign	Het
Ankrd11	G	A	8: 122,908,764	R44C	probably damaging	Het
Ankrd46	A	G	15: 36,484,071		probably benign	Het
Aurkb	G	A	11: 69,048,346	E132K	possibly damaging	Het
Bsdc1	C	T	4: 129,465,276	T9I	possibly damaging	Het
Card14	C	T	11: 119,339,602	R767*	probably null	Het
Ccdc82	T	A	9: 13,272,426	F411L	possibly damaging	Het
Col12a1	C	T	9: 79,645,691	G2106D	probably damaging	Het
Col27a1	T	A	4: 63,319,464		probably benign	Het
Cox10	A	G	11: 63,964,372	L361P	probably damaging	Het
Cox18	A	G	5: 90,223,689	I84T	probably benign	Het
Dhrs3	T	C	4: 144,919,952	S125P	probably damaging	Het
Fbxl15	A	G	19: 46,329,326	H149R	probably benign	Het
Gtf2e1	A	C	16: 37,536,336		probably null	Het
H2-Q7	A	T	17: 35,439,679	S98C	probably damaging	Het
Hcn2	G	T	10: 79,733,773	E536*	probably null	Het
Kat6b	A	T	14: 21,670,680	H1700L	probably damaging	Het
Klhl3	C	T	13: 58,100,378	V35I	probably benign	Het
Krt34	A	T	11: 100,040,090	L162Q	probably damaging	Het
Ly9	A	G	1: 171,589,095	S644P	probably damaging	Het
Magi1	A	T	6: 93,699,639	V685E	probably damaging	Het
Malrd1	A	G	2: 15,526,597		probably benign	Het
Malrd1	A	T	2: 15,667,929	H599L	probably benign	Het
Matn2	T	A	15: 34,426,234	C631S	probably damaging	Het
Megf8	A	T	7: 25,349,695	D1739V	probably damaging	Het
Mlf1	G	A	3: 67,392,944	R98Q	probably benign	Het
Mprip	T	A	11: 59,758,989	I1173K	possibly damaging	Het
Mrc1	A	G	2: 14,270,205	D439G	probably damaging	Het
Mroh5	A	T	15: 73,790,842	W208R	probably damaging	Het
Ms4a5	T	G	19: 11,279,282	I84L	probably benign	Het
Myt1	G	A	2: 181,763,425		probably null	Het
Nbea	T	A	3: 56,000,569	H1374L	probably damaging	Het
Nbeal1	T	A	1: 60,253,474	I1095K	probably benign	Het
Nolc1	A	G	19: 46,083,070		probably benign	Het
Nr5a2	A	G	1: 136,960,238	L18P	probably benign	Het
Nup188	G	T	2: 30,322,187	C562F	probably damaging	Het
Obscn	A	G	11: 59,080,771	V2415A	probably damaging	Het
Pacsin2	A	T	15: 83,379,678		probably null	Het
Pias3	A	G	3: 96,699,523	H34R	possibly damaging	Het
Ppfia2	T	C	10: 106,893,500	V903A	probably damaging	Het
Pramel1	T	A	4: 143,396,705	L84Q	probably damaging	Het
Pramel6	G	A	2: 87,509,438	C182Y	probably damaging	Het
Prdm4	A	G	10: 85,908,032	Y120H	probably damaging	Het
Prss28	A	G	17: 25,311,357	M212V	probably benign	Het
Rbp3	G	T	14: 33,955,267	G391*	probably null	Het
Rc3h2	C	T	2: 37,411,139		probably null	Het
Ret	A	G	6: 118,173,621	F645L	probably benign	Het
Sgsm2	A	G	11: 74,865,169	S402P	possibly damaging	Het
Shc3	T	A	13: 51,482,879		probably null	Het
Slc25a16	A	G	10: 62,941,159	N246S	probably benign	Het
Snrpd1	T	A	18: 10,623,694	H26Q	probably benign	Het
Tex45	T	C	8: 3,479,268	L251P	probably damaging	Het
Thsd1	A	G	8: 22,243,347	T137A	probably damaging	Het
Tnik	A	T	3: 28,539,448	H151L	probably damaging	Het
Tns1	T	A	1: 73,918,050	K1725N	probably damaging	Het
Tomm40l	T	A	1: 171,220,592	T147S	probably damaging	Het
Tomm6	G	T	17: 47,688,007		probably benign	Het
Trp53	G	A	11: 69,589,614	C272Y	probably damaging	Het
Trpm7	A	T	2: 126,807,294	V1492E	probably benign	Het
Tsen2	G	A	6: 115,559,631	R116H	probably benign	Het
Uvrag	A	G	7: 98,906,519	F456S	probably damaging	Het
Vmn1r86	A	T	7: 13,102,352	M199K	possibly damaging	Het
Vmn2r4	C	T	3: 64,409,957	C120Y	probably damaging	Het

Other mutations in Flg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Flg2	APN	3	93202109	nonsense	probably null
IGL00092:Flg2	APN	3	93219855	missense	possibly damaging	0.90
IGL00985:Flg2	APN	3	93203278	missense	unknown
IGL01077:Flg2	APN	3	93220206	missense	unknown
IGL01093:Flg2	APN	3	93202371	missense	unknown
IGL01120:Flg2	APN	3	93201168	missense	probably damaging	0.99
IGL01473:Flg2	APN	3	93203020	missense	unknown
IGL01584:Flg2	APN	3	93213466	missense	unknown
IGL01584:Flg2	APN	3	93215470	missense	unknown
IGL01686:Flg2	APN	3	93202284	missense	unknown
IGL02207:Flg2	APN	3	93220128	missense	unknown
IGL02294:Flg2	APN	3	93203746	missense	unknown
IGL02418:Flg2	APN	3	93201054	missense	probably benign	0.26
IGL02581:Flg2	APN	3	93219892	missense	unknown
IGL02719:Flg2	APN	3	93220131	nonsense	probably null
IGL02795:Flg2	APN	3	93203613	missense	unknown
IGL02893:Flg2	APN	3	93203613	missense	unknown
IGL02958:Flg2	APN	3	93203613	missense	unknown
IGL03060:Flg2	APN	3	93203613	missense	unknown
IGL03088:Flg2	APN	3	93203191	missense	unknown
IGL03165:Flg2	APN	3	93214611	missense	unknown
IGL03342:Flg2	APN	3	93201235	missense	probably damaging	1.00
IGL03352:Flg2	APN	3	93202494	missense	unknown
IGL02796:Flg2	UTSW	3	93203613	missense	unknown
IGL02837:Flg2	UTSW	3	93201737	missense	probably damaging	1.00
PIT4618001:Flg2	UTSW	3	93203781	missense	unknown
R0087:Flg2	UTSW	3	93202431	missense	unknown
R0233:Flg2	UTSW	3	93201797	nonsense	probably null
R0233:Flg2	UTSW	3	93201797	nonsense	probably null
R0315:Flg2	UTSW	3	93214722	missense	unknown
R0390:Flg2	UTSW	3	93200355	splice site	probably benign
R0462:Flg2	UTSW	3	93201437	missense	probably benign	0.18
R0553:Flg2	UTSW	3	93203584	missense	unknown
R0828:Flg2	UTSW	3	93203332	missense	unknown
R1006:Flg2	UTSW	3	93201207	missense	probably benign	0.41
R1444:Flg2	UTSW	3	93202313	missense	unknown
R1497:Flg2	UTSW	3	93219769	missense	unknown
R1518:Flg2	UTSW	3	93203138	missense	unknown
R1737:Flg2	UTSW	3	93203621	missense	unknown
R1780:Flg2	UTSW	3	93202999	missense	unknown
R1797:Flg2	UTSW	3	93200976	missense	probably damaging	1.00
R2065:Flg2	UTSW	3	93202231	missense	unknown
R2168:Flg2	UTSW	3	93201937	missense	probably damaging	1.00
R2220:Flg2	UTSW	3	93202185	missense	unknown
R2292:Flg2	UTSW	3	93220677	missense	unknown
R2327:Flg2	UTSW	3	93203606	nonsense	probably null
R2512:Flg2	UTSW	3	93201775	missense	probably damaging	1.00
R3177:Flg2	UTSW	3	93214888	missense	unknown
R3277:Flg2	UTSW	3	93214888	missense	unknown
R3522:Flg2	UTSW	3	93220027	missense	unknown
R3779:Flg2	UTSW	3	93202423	missense	unknown
R3926:Flg2	UTSW	3	93203215	missense	unknown
R4082:Flg2	UTSW	3	93203521	missense	unknown
R4407:Flg2	UTSW	3	93214869	missense	unknown
R5152:Flg2	UTSW	3	93214977	missense	unknown
R5253:Flg2	UTSW	3	93200812	missense	probably damaging	1.00
R5290:Flg2	UTSW	3	93220566	missense	unknown
R5464:Flg2	UTSW	3	93201970	missense	possibly damaging	0.73
R5539:Flg2	UTSW	3	93220446	missense	unknown
R5622:Flg2	UTSW	3	93202564	missense	unknown
R5788:Flg2	UTSW	3	93200989	missense	probably benign	0.41
R5792:Flg2	UTSW	3	93203497	missense	unknown
R5831:Flg2	UTSW	3	93200234	missense	probably damaging	1.00
R5877:Flg2	UTSW	3	93203449	missense	unknown
R6041:Flg2	UTSW	3	93220361	missense	probably benign	0.01
R6189:Flg2	UTSW	3	93220074	missense	unknown
R6214:Flg2	UTSW	3	93201859	missense	possibly damaging	0.83
R6215:Flg2	UTSW	3	93201859	missense	possibly damaging	0.83
R6239:Flg2	UTSW	3	93201272	missense	probably benign	0.36
R6288:Flg2	UTSW	3	93203785	missense	unknown
R6413:Flg2	UTSW	3	93220376	missense	unknown
R6468:Flg2	UTSW	3	93214421	missense	unknown
R6667:Flg2	UTSW	3	93201761	missense	possibly damaging	0.88
R6930:Flg2	UTSW	3	93201335	nonsense	probably null
R6996:Flg2	UTSW	3	93202670	missense	unknown
R6996:Flg2	UTSW	3	93202949	missense	unknown
R7100:Flg2	UTSW	3	93203711	missense	unknown
R7133:Flg2	UTSW	3	93219762	missense	unknown
R7180:Flg2	UTSW	3	93202833	missense	unknown
R7325:Flg2	UTSW	3	93203372	missense	unknown
R7349:Flg2	UTSW	3	93220206	missense	unknown
R7531:Flg2	UTSW	3	93200870	missense	probably damaging	0.99
R7571:Flg2	UTSW	3	93219996	nonsense	probably null
R7684:Flg2	UTSW	3	93219649	missense	unknown
R7810:Flg2	UTSW	3	93200241	missense	possibly damaging	0.70
R7853:Flg2	UTSW	3	93220747	missense	unknown
R8031:Flg2	UTSW	3	93220214	missense	unknown
R8078:Flg2	UTSW	3	93200275	missense	probably damaging	1.00
R8142:Flg2	UTSW	3	93215475	nonsense	probably null
R8156:Flg2	UTSW	3	93220083	missense	unknown
R8172:Flg2	UTSW	3	93201161	missense	possibly damaging	0.94
R8204:Flg2	UTSW	3	93202767	missense	unknown
R8262:Flg2	UTSW	3	93220210	missense	unknown
R8269:Flg2	UTSW	3	93201880	missense	possibly damaging	0.68
R8290:Flg2	UTSW	3	93202762	missense	unknown
R8444:Flg2	UTSW	3	93200278	missense	probably damaging	0.97
R8670:Flg2	UTSW	3	93201484	missense	probably damaging	0.97
R8755:Flg2	UTSW	3	93200813	missense	probably damaging	1.00
R9039:Flg2	UTSW	3	93203592	missense	unknown
R9116:Flg2	UTSW	3	93202284	missense	unknown
Z1177:Flg2	UTSW	3	93202420	missense	unknown
Z1177:Flg2	UTSW	3	93202738	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGCCATTCTGTAGTAGTACCTG -3'
(R):5'- ATTTACAGATGGTCCCTGGTTG -3'

Sequencing Primer
(F):5'- GACAGTGATTTCAATTATGGTCACAG -3'
(R):5'- GGGTATATCCAGGCTCCTGTC -3'

Posted On

2018-05-21