Mutagenetix > Incidental Mutation

Incidental Mutation 'R6468:Flg2'

516415

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R6468 (G1)

Quality Score

89.0077

Status

Validated

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93214421 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1299 (R1299S)

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: R1299S

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: R1299S

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	G	T	10: 82,295,316	T620K	probably benign	Het
4932438A13Rik	T	C	3: 37,008,443	I3368T	probably damaging	Het
Adamtsl5	A	G	10: 80,341,913	V305A	possibly damaging	Het
Adgrl4	A	G	3: 151,492,375	T91A	probably benign	Het
Ano6	A	G	15: 95,967,714	I860V	probably benign	Het
B3galnt1	A	G	3: 69,575,533	S132P	probably damaging	Het
Btbd10	A	T	7: 113,347,059	V33E	probably benign	Het
Cacna1g	A	T	11: 94,439,722	V989D	probably damaging	Het
Celsr3	A	G	9: 108,835,790	D1807G	probably benign	Het
Chd6	A	G	2: 161,013,067	M807T	probably damaging	Het
Cpxm2	T	C	7: 132,070,860	D320G	probably damaging	Het
Cryzl1	A	C	16: 91,692,525		probably null	Het
Dcbld2	A	T	16: 58,433,373	K158*	probably null	Het
Depdc5	A	G	5: 32,912,231	N437S	probably benign	Het
Dock7	G	A	4: 98,967,227	S1496L	probably benign	Het
Eea1	T	G	10: 96,028,412	I931R	probably benign	Het
Eif2ak4	C	A	2: 118,436,241	L714I	probably damaging	Het
Enpep	A	G	3: 129,331,860		probably null	Het
Fam83b	T	A	9: 76,502,131	K238*	probably null	Het
Fam83f	A	G	15: 80,692,111	Y321C	possibly damaging	Het
Fanci	A	G	7: 79,417,939	I42V	probably benign	Het
Gak	G	T	5: 108,623,336	C102*	probably null	Het
Gcnt7	A	G	2: 172,454,073	L277P	probably damaging	Het
Gucy2d	A	G	7: 98,449,961	E329G	probably benign	Het
Hacd1	T	C	2: 14,035,944	I167V	probably damaging	Het
Hdlbp	T	A	1: 93,417,667	D662V	possibly damaging	Het
Hspa4	A	T	11: 53,265,056	V674E	probably benign	Het
Hunk	A	G	16: 90,493,432	Q442R	possibly damaging	Het
Lce1j	A	T	3: 92,789,422	C16*	probably null	Het
Lrat	A	T	3: 82,903,492	M74K	probably damaging	Het
Lrig2	G	A	3: 104,467,193	R191C	probably damaging	Het
Lrrc37a	A	C	11: 103,460,840	F2558L	unknown	Het
Mctp1	T	A	13: 76,731,811		probably null	Het
Mecom	T	A	3: 30,140,386		probably benign	Het
Mgst1	A	G	6: 138,141,587		probably null	Het
Ms4a15	T	G	19: 10,993,170	E3A	probably benign	Het
Myo1d	T	C	11: 80,557,474	I942V	probably benign	Het
Neu2	A	G	1: 87,596,878	Y195C	probably damaging	Het
Nipa1	A	T	7: 56,019,504	V22E	probably benign	Het
Olfr1061	T	A	2: 86,414,037	N5I	probably damaging	Het
Olfr733	A	T	14: 50,298,467	L281I	probably benign	Het
Olfr781	T	C	10: 129,333,711	S277P	possibly damaging	Het
Pik3r4	A	G	9: 105,685,190	T1223A	possibly damaging	Het
Ppl	T	C	16: 5,092,441	D811G	probably damaging	Het
Prep	T	A	10: 45,115,107	Y290N	probably damaging	Het
Ptk6	A	T	2: 181,199,102	H215Q	probably benign	Het
Rad50	A	G	11: 53,692,144	I474T	possibly damaging	Het
Rnf213	T	A	11: 119,452,687	V3626E	possibly damaging	Het
Scn4a	C	T	11: 106,345,676	V253M	probably damaging	Het
Snta1	T	A	2: 154,377,149	D422V	probably damaging	Het
Stk38	A	G	17: 28,984,112	L160P	probably benign	Het
Tapbp	T	C	17: 33,926,098	F323S	probably damaging	Het
Uggt1	C	T	1: 36,173,450	R937Q	probably benign	Het
Vash2	G	A	1: 190,978,287	P57L	probably damaging	Het
Vmn1r4	G	A	6: 56,956,867	V119I	probably benign	Het
Vmn2r74	T	C	7: 85,961,391	D31G	probably benign	Het
Zfp114	T	C	7: 24,177,781	V16A	possibly 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
R6457:Flg2	UTSW	3	93220482	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
R9214:Flg2	UTSW	3	93203577	missense	unknown
R9231:Flg2	UTSW	3	93202201	missense	unknown
R9553:Flg2	UTSW	3	93214594	missense	unknown
R9607:Flg2	UTSW	3	93201412	missense	probably damaging	0.98
R9735:Flg2	UTSW	3	93220362	missense	unknown
R9752:Flg2	UTSW	3	93201160	missense	probably damaging	0.98
Z1177:Flg2	UTSW	3	93202420	missense	unknown
Z1177:Flg2	UTSW	3	93202738	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTCAGGACAGCAGTAGACAG -3'
(R):5'- TGCCTGATCATGACAGTGAC -3'

Sequencing Primer
(F):5'- CAGCAGTAGACAGCCTCAGG -3'
(R):5'- CCTGATCATGACAGTGACAGTGAC -3'

Posted On

2018-05-21