Mutagenetix > Incidental Mutation

Incidental Mutation 'R7325:Flg2'

568804

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: 0.125) question?

Stock #

R7325 (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 93203372 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 902 (N902K)

Ref Sequence

ENSEMBL: ENSMUSP00000096482 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000098884
AA Change: N902K

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: N902K

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

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,532,630	Q402L	probably benign	Het
Afap1l1	T	C	18: 61,736,846	T638A	probably benign	Het
Agtr1a	A	C	13: 30,381,907	K318N	possibly damaging	Het
Anks1b	A	G	10: 90,941,432	T1095A	probably damaging	Het
Ap3d1	A	T	10: 80,723,803	I207N	probably damaging	Het
Arhgef11	T	C	3: 87,713,292	L484P	possibly damaging	Het
Astn2	C	T	4: 65,542,669	S1076N	probably benign	Het
Baat	C	A	4: 49,490,213	L290F	probably benign	Het
Boll	T	C	1: 55,304,598	Y222C	probably damaging	Het
Bphl	A	T	13: 34,050,341	I147F	possibly damaging	Het
C330027C09Rik	T	A	16: 49,005,821	M417K	probably benign	Het
Cadps2	T	G	6: 23,409,935	D766A	unknown	Het
Cd300lb	T	A	11: 114,925,032	K210M	probably damaging	Het
Cdan1	T	C	2: 120,724,704	Q797R	probably benign	Het
Celsr1	T	A	15: 86,033,008	S255C	probably damaging	Het
Csmd1	G	A	8: 16,058,707	S1894L	probably damaging	Het
Dennd5b	T	A	6: 149,020,570	K815N	probably benign	Het
Exd1	A	G	2: 119,520,139	V547A	probably benign	Het
Fbxo15	C	T	18: 84,959,118	R52C	probably damaging	Het
Fip1l1	A	G	5: 74,536,799		probably null	Het
Fyttd1	T	A	16: 32,884,248	N76K	probably benign	Het
Gins1	T	A	2: 150,916,166	D57E	probably benign	Het
Gm5565	G	C	5: 146,158,361		probably null	Het
Gm6614	T	C	6: 141,989,225	K379E	probably damaging	Het
Gpsm2	T	C	3: 108,702,928	Y72C	probably damaging	Het
Hace1	C	A	10: 45,589,507	S53*	probably null	Het
Insig2	A	G	1: 121,306,937	V188A	possibly damaging	Het
Ism1	T	C	2: 139,757,043	V312A	probably damaging	Het
Jmy	A	T	13: 93,472,743	Y353N	probably damaging	Het
Maats1	T	A	16: 38,321,601		probably null	Het
Maz	A	C	7: 127,025,553	V265G	probably benign	Het
Mtmr14	T	A	6: 113,269,548	I426N	probably damaging	Het
Olfr1054	A	G	2: 86,333,000	S119P	possibly damaging	Het
Olfr1467	A	G	19: 13,364,637	E3G	probably benign	Het
Olfr394	C	T	11: 73,888,275	M32I	probably benign	Het
Pcdhac2	T	A	18: 37,145,360	N464K	probably damaging	Het
Pcdhb7	T	A	18: 37,343,387	H525Q	probably benign	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Podn	C	T	4: 108,017,702		probably null	Het
Prim1	A	G	10: 128,022,919	D232G	probably null	Het
Prrt1	T	A	17: 34,632,187	M283K	possibly damaging	Het
Rgs9	A	T	11: 109,276,581	I65N	probably damaging	Het
Scgb2b26	C	A	7: 33,944,357	V53L	probably benign	Het
Shank2	C	A	7: 144,411,685	P1010Q	probably benign	Het
Slc12a4	C	T	8: 105,955,715	G121S	probably damaging	Het
Slc17a6	G	T	7: 51,645,018	A158S	probably damaging	Het
Slc9a9	C	T	9: 94,712,898	H154Y	probably benign	Het
Slco2a1	T	A	9: 103,085,749		probably null	Het
Snapc3	T	C	4: 83,435,270	I182T	probably benign	Het
Taok2	A	G	7: 126,871,088	V856A	probably benign	Het
Tep1	T	A	14: 50,866,038	N265I	probably damaging	Het
Tespa1	A	T	10: 130,362,041	N311Y	probably damaging	Het
Tpmt	G	A	13: 47,041,484	Q14*	probably null	Het
Trim33	T	C	3: 103,321,636	F353L	possibly damaging	Het
Upp1	T	C	11: 9,134,743	V154A	probably damaging	Het
Usp34	T	C	11: 23,419,052	I1747T		Het
Vmn1r47	T	C	6: 90,022,272	S129P	probably benign	Het
Vmn2r93	A	G	17: 18,303,987	Y81C	probably benign	Het
Ybx2	A	T	11: 69,940,355	T259S	probably benign	Het
Zfp536	T	C	7: 37,479,860	T1107A	probably benign	Het
Zfp583	C	T	7: 6,316,586	A476T	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
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'- GTCATTGGGATTTGGACAGC -3'
(R):5'- TCCAGAATATCTCCGTGGGAC -3'

Sequencing Primer
(F):5'- GGGATCTCATCAGTCAGAAAGTTC -3'
(R):5'- CAGAATATCTCCGTGGGACTACTG -3'

Posted On

2019-09-13