Mutagenetix > Incidental Mutation

Incidental Mutation 'R6041:Flg2'

483535

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

MMRRC Submission

044209-MU

Accession Numbers

Essential gene?

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

Stock #

R6041 (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 93220361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 173 (D173E)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098884] [ENSMUST00000194707]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000098884
AA Change: D2193E

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: D2193E

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

probably benign
Transcript: ENSMUST00000194443
AA Change: D173E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,376,380	M297K	probably damaging	Het
Ace	A	C	11: 105,975,308	H34P	probably benign	Het
Agbl2	A	T	2: 90,808,027	N652I	probably benign	Het
Auh	T	A	13: 52,919,086	L86F	possibly damaging	Het
Bmp10	A	G	6: 87,434,320	K365R	probably damaging	Het
Cacna1d	A	T	14: 30,042,357	S2086T	probably damaging	Het
Calcoco1	C	A	15: 102,717,939	R105L	possibly damaging	Het
Casc3	T	G	11: 98,828,559	V509G	probably damaging	Het
Clmn	A	G	12: 104,781,872	V472A	probably benign	Het
Cyp2b19	A	T	7: 26,759,427	S142C	probably damaging	Het
Derl3	T	C	10: 75,893,501	L26P	probably damaging	Het
Dgkh	C	T	14: 78,587,627	A863T	probably damaging	Het
Dhx30	C	T	9: 110,084,598	R1127Q	probably benign	Het
Dmxl2	A	G	9: 54,416,753	S1116P	probably damaging	Het
Dnah7b	T	C	1: 46,289,645	V3179A	probably benign	Het
Dnajb11	A	T	16: 22,868,721	N156I	probably benign	Het
Dpep1	A	T	8: 123,200,655	E316V	probably damaging	Het
F2rl2	T	A	13: 95,701,109	F221I	probably benign	Het
Fam189a2	A	T	19: 23,984,829	M270K	probably benign	Het
Fshr	A	T	17: 88,985,986	D421E	probably damaging	Het
Gfm2	T	A	13: 97,172,623	V612E	probably benign	Het
Gm17655	T	G	5: 110,047,573	K114N	possibly damaging	Het
Gm45844	C	A	7: 7,278,184		probably benign	Het
Gm5724	A	C	6: 141,739,038	D230E	probably benign	Het
Gpr142	A	T	11: 114,806,377	I250F	probably damaging	Het
Hexa	A	G	9: 59,563,236	Q447R	probably damaging	Het
Leng8	T	C	7: 4,145,569	L780P	probably benign	Het
Lrrk1	T	C	7: 66,262,133	D1893G	probably benign	Het
Macf1	T	A	4: 123,513,848	I139F	probably damaging	Het
Megf10	A	T	18: 57,180,549	T22S	probably benign	Het
Mup-ps1	C	A	4: 60,088,549		noncoding transcript	Het
Myh13	A	T	11: 67,364,730	E1642V	probably damaging	Het
Myof	A	G	19: 37,924,620	Y1462H	probably damaging	Het
Nipbl	T	A	15: 8,324,264	D1765V	probably damaging	Het
Npy5r	A	T	8: 66,682,023	N39K	possibly damaging	Het
Olfr1026	G	A	2: 85,923,391	G41D	probably damaging	Het
Pax6	A	G	2: 105,683,902	I29V	probably damaging	Het
Pi4ka	A	G	16: 17,360,572	Y307H	probably benign	Het
Pmf1	A	C	3: 88,396,051	Y68D	probably damaging	Het
Psen2	C	A	1: 180,245,727	E10*	probably null	Het
Ptprs	T	A	17: 56,419,080	M991L	probably benign	Het
R3hdm4	A	G	10: 79,913,661	V20A	possibly damaging	Het
Rad17	T	C	13: 100,617,766	N649D	probably benign	Het
Rad9b	A	T	5: 122,351,352	C38S	probably damaging	Het
Rapgef2	T	C	3: 79,069,162	M1296V	probably benign	Het
Rbp3	T	C	14: 33,956,482	S796P	probably damaging	Het
Rpl10-ps3	A	G	9: 50,344,782	S54P	probably benign	Het
Sclt1	T	A	3: 41,627,177	I688F	probably damaging	Het
Scn10a	A	G	9: 119,609,469	I1778T	probably damaging	Het
Scrib	C	T	15: 76,067,172	R159Q	possibly damaging	Het
Senp1	C	T	15: 98,058,216	E441K	probably damaging	Het
Sipa1l1	T	A	12: 82,342,250	F417I	probably damaging	Het
Smcr8	A	G	11: 60,779,568	D514G	probably damaging	Het
Tbc1d23	T	G	16: 57,173,150	D551A	probably benign	Het
Tet1	G	T	10: 62,813,373	T149N	probably damaging	Het
Them4	A	T	3: 94,317,499	D61V	possibly damaging	Het
Trak1	A	T	9: 121,460,412	I597F	probably damaging	Het
Trank1	A	G	9: 111,377,796	I1666V	possibly damaging	Het
Vipr2	A	C	12: 116,142,984	N378T	probably damaging	Het
Zfp804b	T	C	5: 6,771,231	R575G	probably benign	Het
Zfp941	A	T	7: 140,812,245	C400*	probably null	Het
Zswim5	A	C	4: 116,962,621	S408R	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
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'- AGAGTCAGAAACAGGTCCTGAC -3'
(R):5'- AGTTCCAATGCAGTATAGGTTGG -3'

Sequencing Primer
(F):5'- TGACCAGTCAGTTGATTATTACAATC -3'
(R):5'- TCCAATGCAGTATAGGTTGGGAAAAG -3'

Posted On

2017-07-14