Mutagenetix > Incidental Mutations

Incidental Mutation 'R8078:Flg2'

629126

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: 0.100) question?

Stock #

R8078 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 93200275 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 22 (D22E)

Ref Sequence

ENSEMBL: ENSMUSP00000096482 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000098884
AA Change: D22E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: D22E

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.9%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,301,279	V2884I	probably benign	Het
Actl10	T	A	2: 154,552,570	N147K	probably benign	Het
Agpat2	C	A	2: 26,604,101	C37F	possibly damaging	Het
Alb	G	C	5: 90,467,355	R242P	probably damaging	Het
Ankrd26	T	A	6: 118,517,893		probably null	Het
Bcas1	T	C	2: 170,418,612	E49G	possibly damaging	Het
Birc3	A	G	9: 7,858,741	V331A	probably damaging	Het
Cadm3	A	G	1: 173,341,059	V314A	probably damaging	Het
Cep290	T	C	10: 100,572,887	V2407A	probably benign	Het
Chd5	C	A	4: 152,360,991	N446K	possibly damaging	Het
Clec9a	A	G	6: 129,409,033	S27G	probably benign	Het
Coro1c	G	T	5: 113,882,103	A17E	probably damaging	Het
Cspg4	T	C	9: 56,890,259	S1336P	possibly damaging	Het
Ddx55	G	A	5: 124,566,388	V353M	probably damaging	Het
Farp1	T	A	14: 121,276,300	S836T	probably benign	Het
Fbll1	G	T	11: 35,797,901	D178E	probably benign	Het
Glis1	T	A	4: 107,567,902	C237S	probably damaging	Het
Gm5519	T	C	19: 33,822,957	V17A	possibly damaging	Het
Gucy2c	C	A	6: 136,697,921	G1055C	probably damaging	Het
Hspg2	T	C	4: 137,508,022	Y123H	probably damaging	Het
Idh1	T	A	1: 65,161,066	I380F	probably damaging	Het
Il23r	A	T	6: 67,423,593	N584K	probably damaging	Het
Lama1	A	T	17: 67,791,294	T1829S		Het
Ldlrad1	G	A	4: 107,209,491	A8T	probably benign	Het
Luzp2	T	A	7: 55,052,762	Y24*	probably null	Het
Masp2	A	T	4: 148,613,778	T439S	probably benign	Het
Meioc	G	A	11: 102,668,400	W49*	probably null	Het
Mrvi1	T	C	7: 110,899,735	E363G	probably damaging	Het
Mtor	T	G	4: 148,468,287	I749S	probably benign	Het
Myo16	T	A	8: 10,562,078	V1241D	unknown	Het
Ncam2	G	T	16: 81,443,248	R199L	possibly damaging	Het
Nyap2	A	G	1: 81,241,057	S265G	possibly damaging	Het
Olfr1309	T	A	2: 111,983,270	D268V	probably damaging	Het
Parp8	A	T	13: 116,924,983	F175I	probably damaging	Het
Pcnx	A	G	12: 81,975,280	T823A		Het
Phc2	T	A	4: 128,711,062	I197N	probably damaging	Het
Pla2g16	C	T	19: 7,579,161	T109I	probably benign	Het
Pot1a	T	C	6: 25,750,108	I518M	probably benign	Het
Prg2	T	A	2: 84,982,260	C105S	probably benign	Het
Rab39	A	G	9: 53,705,955	L54P	possibly damaging	Het
Rell1	T	A	5: 63,939,721		probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Slc4a4	T	C	5: 89,179,707	Y668H	probably benign	Het
Sncg	C	A	14: 34,374,770		probably benign	Het
Spata31d1b	A	G	13: 59,715,449	D137G	probably damaging	Het
Tas1r1	C	T	4: 152,028,346	G750D	probably damaging	Het
Tcea3	A	T	4: 136,254,514	D61V	probably damaging	Het
Tfap2c	T	A	2: 172,551,472	H102Q	probably damaging	Het
Tmem150a	T	A	6: 72,358,323	L95H	probably damaging	Het
Tnfrsf11a	A	T	1: 105,817,684	D149V	probably damaging	Het
Tsc22d2	C	A	3: 58,416,032	A115E	probably benign	Het
Vmn2r101	T	A	17: 19,590,245	F431Y	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r85	C	A	10: 130,429,495	E40*	probably null	Het
Zfp606	G	A	7: 12,481,015	A57T	possibly damaging	Het
Zfp760	T	C	17: 21,723,455	V537A	probably benign	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
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
Z1177:Flg2	UTSW	3	93202420	missense	unknown
Z1177:Flg2	UTSW	3	93202738	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGACCCATACTTGTATGTTGAGGTAG -3'
(R):5'- ACTGGGGTTTTCTCAGAGTCAG -3'

Sequencing Primer
(F):5'- CTGTATTAAAGGGTCACAGCATTAGG -3'
(R):5'- TCTCAGAGTCAGGTGGGGC -3'

Posted On

2020-06-30