Mutagenetix > Incidental Mutation

Incidental Mutation 'R1518:Flg2'

167162

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R1518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93203138 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 824 (H824Q)

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: H824Q

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: H824Q

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,275,369	M493L	probably benign	Het
Abtb2	G	A	2: 103,709,284	V665I	probably benign	Het
Adamtsl1	C	G	4: 86,342,603	S1017W	probably damaging	Het
Aebp1	A	G	11: 5,871,469	T623A	possibly damaging	Het
Alox5	A	G	6: 116,413,780	F470S	probably damaging	Het
Angpt2	T	C	8: 18,705,839	E204G	probably benign	Het
Apip	A	G	2: 103,089,493	E138G	probably damaging	Het
Apob	C	T	12: 7,989,207	T466M	probably benign	Het
Atp2b3	GACAACA	GACA	X: 73,545,123		probably benign	Het
Atxn7l3	A	T	11: 102,294,514	D56E	probably benign	Het
Cacna1s	C	T	1: 136,098,551	A1092V	probably damaging	Het
Calr3	A	G	8: 72,427,200	F183L	probably damaging	Het
Cd300lb	T	A	11: 114,926,051	D55V	probably benign	Het
Chid1	A	C	7: 141,528,471	V145G	probably damaging	Het
Chst15	T	C	7: 132,270,126	N142S	probably damaging	Het
Cnot4	C	T	6: 35,051,454	R409Q	probably damaging	Het
Cope	T	G	8: 70,312,761	I287S	possibly damaging	Het
Cpd	A	T	11: 76,840,386		probably null	Het
Cux1	G	T	5: 136,308,279	T785K	probably benign	Het
Dthd1	T	C	5: 62,822,040	S348P	probably damaging	Het
Eno3	G	T	11: 70,661,077	E64*	probably null	Het
Entpd1	T	A	19: 40,725,063	Y184*	probably null	Het
Erv3	A	T	2: 131,856,163	M92K	probably benign	Het
Fndc9	G	A	11: 46,238,103	G150S	probably benign	Het
Gdap1	G	A	1: 17,146,945	V43I	possibly damaging	Het
Ifi213	C	A	1: 173,589,663	L394F	probably damaging	Het
Ift88	A	G	14: 57,430,628	T29A	possibly damaging	Het
Kdm4c	A	T	4: 74,333,826	I437L	probably benign	Het
Kras	T	A	6: 145,232,251	E98D	probably benign	Het
Lcorl	C	A	5: 45,734,201	R353I	possibly damaging	Het
Lrrc4c	A	G	2: 97,630,576	I516V	probably benign	Het
Lrrc51	T	C	7: 101,915,596	D85G	probably damaging	Het
Lypd6b	G	A	2: 49,947,492	A159T	probably damaging	Het
Magel2	G	A	7: 62,380,440	V1031I	unknown	Het
Man1c1	A	T	4: 134,580,789	N338K	probably benign	Het
Mdn1	C	A	4: 32,739,977	Q3744K	probably damaging	Het
Micu3	G	T	8: 40,335,852	A135S	possibly damaging	Het
Muc4	T	C	16: 32,750,349	S76P	possibly damaging	Het
Nin	T	G	12: 70,014,773	T2106P	probably benign	Het
Nlrp4e	T	C	7: 23,321,843	I585T	probably benign	Het
Npy1r	C	T	8: 66,704,195	A89V	probably benign	Het
Olfr1136	A	T	2: 87,693,528	M118K	probably damaging	Het
Olfr1220	G	A	2: 89,097,600	A109V	probably benign	Het
Olfr608	T	A	7: 103,470,042	M1K	probably null	Het
Olfr665	T	A	7: 104,881,308	Y200*	probably null	Het
Olfr743	T	C	14: 50,534,165	V251A	probably damaging	Het
Parp14	T	G	16: 35,856,638	T987P	possibly damaging	Het
Pde7b	A	T	10: 20,548,121	V3E	probably damaging	Het
Pdlim7	G	T	13: 55,508,294	Y104*	probably null	Het
Pgm2l1	A	G	7: 100,261,725	K292R	probably benign	Het
Plec	T	C	15: 76,188,201	E728G	probably damaging	Het
Plppr4	T	C	3: 117,335,503	Y105C	probably damaging	Het
Polr1c	A	T	17: 46,247,895	N23K	possibly damaging	Het
Ppp5c	A	T	7: 17,009,936	M191K	probably damaging	Het
Prkca	T	C	11: 107,978,316	D57G	probably damaging	Het
Prkcb	A	G	7: 122,544,631		probably null	Het
Prl6a1	C	A	13: 27,318,927	Q169K	possibly damaging	Het
Prl6a1	A	T	13: 27,318,928	Q169L	probably null	Het
Psmd14	G	A	2: 61,760,991	R46H	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ramp2	A	G	11: 101,247,582	T22A	probably benign	Het
Rbm19	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	5: 120,140,280		probably benign	Het
Rbm25	A	T	12: 83,668,445	E463D	possibly damaging	Het
Retnlb	A	G	16: 48,817,315	I35V	probably benign	Het
Sestd1	A	G	2: 77,241,632	Y49H	probably damaging	Het
Setd2	T	A	9: 110,602,238	I2378N	probably damaging	Het
Slc26a1	A	T	5: 108,671,874	C486*	probably null	Het
Spef2	T	A	15: 9,667,230	I791F	probably damaging	Het
Sptb	T	C	12: 76,604,024	T1726A	possibly damaging	Het
St5	A	G	7: 109,557,355	S63P	probably damaging	Het
Stk38l	T	A	6: 146,771,631	M296K	probably benign	Het
Taf5	T	C	19: 47,081,846	F624L	probably damaging	Het
Tmem30c	G	T	16: 57,266,492	T316K	probably damaging	Het
Trpm2	A	G	10: 77,943,005	S376P	possibly damaging	Het
Vmn2r82	A	T	10: 79,378,868	L228F	probably damaging	Het
Zfp607b	G	A	7: 27,698,662	C57Y	possibly damaging	Het
Zfp983	A	G	17: 21,662,353	H399R	probably damaging	Het
Zfp984	A	T	4: 147,755,545	M283K	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
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
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'- CCAGGTCAGTCATCAAGCAGTGAAG -3'
(R):5'- GACCATGTCCAGATTCATGCTCTCC -3'

Sequencing Primer
(F):5'- AGTCTTCTAGCTCATGGCAAC -3'
(R):5'- AGATTCATGCTCTCCGTATCCATAAG -3'

Posted On

2014-04-13