Mutagenetix > Incidental Mutation

Incidental Mutation 'R7684:Flg2'

592918

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 #

R7684 (G1)

Quality Score

129.008

Status

Not validated

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93219649 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1956 (V1956A)

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: V1956A

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: V1956A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,612,540	K1239*	probably null	Het
Abhd6	T	C	14: 8,039,807	F60S	probably damaging	Het
Adam6b	G	A	12: 113,491,576	W671*	probably null	Het
Ankrd36	A	G	11: 5,570,113	T63A	possibly damaging	Het
Arhgef16	A	G	4: 154,281,828	V494A	possibly damaging	Het
Arhgef7	T	A	8: 11,819,663	M659K	probably benign	Het
Cacna1h	A	G	17: 25,389,372	Y854H	probably damaging	Het
Chd3	A	T	11: 69,357,866	F780I	possibly damaging	Het
Cldn8	A	G	16: 88,562,447	Y197H	probably damaging	Het
Cpne8	A	T	15: 90,649,247	D58E	probably damaging	Het
Cul9	T	G	17: 46,509,889	Y1954S	probably damaging	Het
Cyp4a10	T	A	4: 115,518,352	F11I	probably benign	Het
Cysrt1	A	T	2: 25,239,082	C139*	probably null	Het
Dnajc16	A	G	4: 141,774,568	V317A	probably benign	Het
Dnmt3a	T	C	12: 3,897,340	V437A	probably benign	Het
Dok5	T	C	2: 170,841,424	C202R	probably damaging	Het
Dusp11	T	A	6: 85,950,560	R164S	probably damaging	Het
Dysf	T	C	6: 84,100,135	S648P	probably benign	Het
Egfem1	A	T	3: 29,690,185	R581S	probably damaging	Het
Enpep	A	G	3: 129,321,445	F226S	probably damaging	Het
Ep400	A	G	5: 110,697,352	I1541T	unknown	Het
Exd1	A	G	2: 119,520,203	S526P	probably damaging	Het
Fam118a	A	G	15: 85,058,781	E337G	possibly damaging	Het
Fam20b	T	C	1: 156,690,645	N193S	probably benign	Het
Fat3	A	G	9: 15,988,268		probably null	Het
Fzd10	A	G	5: 128,601,416	I67V	possibly damaging	Het
Gckr	A	T	5: 31,307,797	D370V	probably damaging	Het
Gm8797	A	T	3: 5,751,088	Q62L	probably benign	Het
H6pd	G	T	4: 149,996,062	Q109K	probably benign	Het
Higd1a	T	C	9: 121,850,256	K55R	possibly damaging	Het
Il1b	C	T	2: 129,367,357	V118I	probably benign	Het
Insr	T	C	8: 3,169,753	N923S	possibly damaging	Het
Krit1	A	G	5: 3,830,723	I561V	possibly damaging	Het
Lamc2	T	C	1: 153,127,025	D1070G	probably null	Het
Lpcat2	T	A	8: 92,909,195	D408E	possibly damaging	Het
Mst1r	T	A	9: 107,911,563	F427Y	probably benign	Het
Mtx1	A	T	3: 89,210,432	I258K	possibly damaging	Het
Nckap5	T	C	1: 126,026,857	T653A	probably benign	Het
Npas3	A	T	12: 54,068,826	N844Y	probably damaging	Het
Nrg3	A	T	14: 39,472,565	L79Q	probably damaging	Het
Nsmce1	C	A	7: 125,471,176	K154N	probably damaging	Het
Oard1	T	C	17: 48,416,698	L124P	probably damaging	Het
Olfr1122	T	C	2: 87,388,028	S108P	probably damaging	Het
Olfr1337	T	C	4: 118,782,274	M104V	probably benign	Het
Olfr615	T	C	7: 103,561,218	F247S	probably benign	Het
Olfr642	G	A	7: 104,049,460	T298I	probably damaging	Het
Ovgp1	A	T	3: 105,979,956	T223S	probably damaging	Het
Pik3c2a	A	T	7: 116,388,077	Y536*	probably null	Het
Plekho2	A	T	9: 65,559,534		probably null	Het
Prelid3b	T	C	2: 174,468,417		probably null	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rxfp1	T	A	3: 79,670,907	N159I	possibly damaging	Het
Sfmbt1	A	G	14: 30,810,354	Q557R	probably damaging	Het
Slc22a18	G	T	7: 143,490,840	V177L	probably benign	Het
Slc22a8	A	G	19: 8,609,930	I451M	probably benign	Het
Slc39a12	T	C	2: 14,449,859	S563P	probably damaging	Het
Snx20	T	C	8: 88,627,235	D289G	probably benign	Het
Sptb	A	G	12: 76,612,195	Y1189H	probably benign	Het
Tbc1d1	T	A	5: 64,316,486	M784K	probably benign	Het
Tbkbp1	T	C	11: 97,147,733		probably benign	Het
Tfap2b	G	C	1: 19,214,287	D140H	probably damaging	Het
Thy1	G	A	9: 44,046,558	G13D	unknown	Het
Ticam1	A	G	17: 56,269,984	S704P	unknown	Het
Tmem151b	A	G	17: 45,547,003	Y106H	probably damaging	Het
Trappc8	T	C	18: 20,863,502	N452S	probably benign	Het
Ttc9c	A	G	19: 8,811,764	Y166H	probably damaging	Het
Txndc16	A	G	14: 45,147,868	V556A	possibly damaging	Het
Tyrp1	C	A	4: 80,840,625	S245Y	probably damaging	Het
Urb1	A	T	16: 90,786,118	L621*	probably null	Het
Wdr72	A	T	9: 74,147,010	T224S	probably damaging	Het
Zc3h18	T	G	8: 122,407,426	S544A	unknown	Het
Zfp462	T	A	4: 55,008,908	N291K	probably benign	Het
Zfp609	T	C	9: 65,731,080	N290S	possibly damaging	Het
Zfp979	A	T	4: 147,613,342	H303Q	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
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'- GGAACACTCAGTAGTCCCAC -3'
(R):5'- GGTACACTTTGATTGCCAATGG -3'

Sequencing Primer
(F):5'- AGAGACATTCTGGATCCGGTCAC -3'
(R):5'- CCAATGGATACTATGTGATGGATG -3'

Posted On

2019-11-12