Mutagenetix > Incidental Mutation

Incidental Mutation 'R8290:Flg2'

638624

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 #

R8290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93202762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 699 (Q699R)

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: Q699R

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: Q699R

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: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,512,282	Y1100N	probably damaging	Het
Abcf2	CAT	CATAAT	5: 24,576,591		probably benign	Het
Adgrv1	T	C	13: 81,481,883	T3576A	probably benign	Het
Adnp2	A	T	18: 80,142,733	N8K	probably damaging	Het
Aftph	A	T	11: 20,725,712	H632Q	probably benign	Het
Arhgef11	A	T	3: 87,725,968	I710F	probably damaging	Het
Atp6v1c2	T	C	12: 17,288,152	N341S	possibly damaging	Het
Ccsap	T	G	8: 123,859,247	D55A	probably benign	Het
Cdh17	A	G	4: 11,817,037	N816S	probably benign	Het
Celf3	A	G	3: 94,479,182	I26V	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Chek2	A	G	5: 110,860,900	E299G	possibly damaging	Het
Clca2	A	G	3: 145,087,958	V312A	possibly damaging	Het
Cnn1	A	G	9: 22,101,151	K25R	probably benign	Het
Cry1	A	T	10: 85,143,113	Y516*	probably null	Het
Dcaf4	T	C	12: 83,541,559	S498P	probably benign	Het
Dmgdh	T	C	13: 93,706,736	V360A	probably benign	Het
Dnajc18	G	A	18: 35,683,271	R205*	probably null	Het
Eif4a2	G	T	16: 23,108,622	G22C	probably damaging	Het
Elmo2	A	G	2: 165,309,003	I196T	probably damaging	Het
Epha3	A	G	16: 63,652,496	I342T	possibly damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Etf1	G	A	18: 34,931,838	P35L	unknown	Het
Etnk2	A	C	1: 133,379,389	*386C	probably null	Het
Fgg	A	T	3: 83,012,834	I307F	probably benign	Het
Foxp4	T	A	17: 47,880,853	T120S	unknown	Het
Fzd1	A	G	5: 4,757,060	V174A	possibly damaging	Het
Gad1	A	C	2: 70,574,266	I167L	probably benign	Het
Gfm2	T	A	13: 97,145,663	D55E	probably benign	Het
Gm6904	T	C	14: 59,247,969	Y114C	probably damaging	Het
Grb14	G	T	2: 64,975,585	A12E	probably benign	Het
Hnmt	A	C	2: 24,003,884	Y199*	probably null	Het
Kit	A	G	5: 75,641,169	I615V	probably benign	Het
Kpna6	A	G	4: 129,661,304		probably null	Het
Lpxn	C	T	19: 12,832,688	R275C	probably damaging	Het
Magi1	C	T	6: 94,283,085	G80S	probably damaging	Het
Men1	A	G	19: 6,338,286	I312V	probably benign	Het
Msx2	A	G	13: 53,468,492	F161L	probably damaging	Het
Mtr	T	C	13: 12,190,253	D1107G	probably damaging	Het
Muc4	A	T	16: 32,754,316	M1397L	probably benign	Het
Mybpc3	A	G	2: 91,121,128	N259S	probably benign	Het
Myo5c	A	G	9: 75,288,896	K1242R	probably benign	Het
Myoc	T	C	1: 162,649,032	V435A	possibly damaging	Het
Nbea	G	A	3: 56,058,635	Q469*	probably null	Het
Ndufa10	A	C	1: 92,463,147	M227R	possibly damaging	Het
Obscn	C	T	11: 59,062,710	D3831N	probably damaging	Het
Obscn	T	C	11: 59,124,574	E1024G	probably damaging	Het
Oma1	T	C	4: 103,319,474	L145P	probably damaging	Het
Phf12	C	A	11: 78,029,639	N1000K	probably benign	Het
Plxnb1	G	T	9: 109,109,619	A1350S	probably benign	Het
Prkd1	C	T	12: 50,342,016	V915I	probably damaging	Het
Prkra	T	A	2: 76,633,638	N227Y	probably damaging	Het
Prtg	A	T	9: 72,890,795	H681L	probably damaging	Het
Rtn1	T	C	12: 72,308,419	K251R	probably benign	Het
Sema6b	A	T	17: 56,124,803	V620E	possibly damaging	Het
Senp7	T	A	16: 56,153,637	L407*	probably null	Het
Sh3pxd2a	A	T	19: 47,314,136	L168Q	probably damaging	Het
Shtn1	A	G	19: 58,999,894	L453P	probably damaging	Het
Slc26a6	G	A	9: 108,856,031	R43H	probably benign	Het
Stac3	T	C	10: 127,503,360		probably null	Het
Taf2	A	G	15: 55,063,020	F178S	probably damaging	Het
Tcp10a	G	A	17: 7,334,317	E239K	probably benign	Het
Ubox5	A	G	2: 130,600,413	V118A	probably damaging	Het
Unc13d	C	A	11: 116,068,147	L729F	probably damaging	Het
Vmn1r228	T	C	17: 20,776,462	T265A	probably benign	Het
Vmn2r100	G	A	17: 19,531,350	V615I	probably damaging	Het
Vmn2r60	T	G	7: 42,142,266	C538G	probably damaging	Het
Vmn2r93	A	T	17: 18,304,029	N95I	probably damaging	Het
Vsig2	A	G	9: 37,539,968	N55S	probably benign	Het
Zfp472	A	G	17: 32,978,114	T388A	probably benign	Het
Zfp853	G	A	5: 143,289,071	Q214*	probably null	Het
Zfp949	A	G	9: 88,569,240	R288G	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
R6457:Flg2	UTSW	3	93220482	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
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'- GCATCATGGTTCTGGCTCTC -3'
(R):5'- GAGCTAGAAGACTGACCAGGTC -3'

Sequencing Primer
(F):5'- TCTCAGCAGCATGGGGGAG -3'
(R):5'- GAAGACTGACCAGGTCTAGATTCCTC -3'

Posted On

2020-07-28