Mutagenetix > Incidental Mutation

Incidental Mutation 'R5788:Flg2'

448132

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

MMRRC Submission

043382-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R5788 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93200989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 108 (H108L)

Ref Sequence

ENSEMBL: ENSMUSP00000096482 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000098884
AA Change: H108L

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: H108L

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

Meta Mutation Damage Score

0.1830

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	A	G	7: 131,443,599	Y420C	probably benign	Het
Acot11	C	T	4: 106,760,130	G240R	probably damaging	Het
Amfr	T	A	8: 94,000,314	R90S	probably damaging	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,578,089		probably null	Het
Ano5	G	A	7: 51,566,318	D348N	possibly damaging	Het
Atp8a2	T	A	14: 60,020,793	D440V	probably damaging	Het
Bahcc1	A	G	11: 120,286,352	D2022G	probably damaging	Het
Bicd1	T	C	6: 149,484,000	F77S	probably benign	Het
Ccdc66	C	T	14: 27,498,491	R255H	probably benign	Het
Ckm	A	G	7: 19,419,447	D152G	probably benign	Het
Cpsf7	T	G	19: 10,540,718	S431A	possibly damaging	Het
Csmd1	T	C	8: 16,201,966	T959A	probably damaging	Het
Dkk4	T	C	8: 22,625,331	C66R	probably damaging	Het
Espl1	T	A	15: 102,324,030	W2058R	probably damaging	Het
Evi5l	A	T	8: 4,206,800		probably benign	Het
Fancg	A	T	4: 43,007,130		probably benign	Het
Fzd2	A	T	11: 102,605,467	T246S	probably benign	Het
Gm10428	T	G	11: 62,753,281		probably benign	Het
Gm1988	T	A	7: 39,172,203		noncoding transcript	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gm7133	A	T	1: 97,243,476		noncoding transcript	Het
Grin2b	T	C	6: 135,740,964	N710S	probably benign	Het
Hcn2	T	C	10: 79,717,111	V148A	possibly damaging	Het
Hephl1	A	G	9: 15,084,283	L483S	possibly damaging	Het
Hinfp	C	T	9: 44,297,808	E338K	possibly damaging	Het
Hsd17b4	G	A	18: 50,173,709	D494N	probably damaging	Het
Ipo4	C	T	14: 55,628,820	V801M	probably benign	Het
Kcns2	A	C	15: 34,838,854	Y121S	probably benign	Het
Kif1c	T	A	11: 70,708,828	L462H	probably damaging	Het
Lrrk2	T	G	15: 91,764,648	V1615G	possibly damaging	Het
Naca	G	A	10: 128,040,142		probably benign	Het
Naip6	G	T	13: 100,300,216	Q600K	probably benign	Het
Ndufs2	A	G	1: 171,239,385	Y135H	probably damaging	Het
Nwd2	T	C	5: 63,807,771	V1566A	probably benign	Het
Olfr1102	A	G	2: 87,002,301	T111A	probably benign	Het
Olfr503	T	C	7: 108,545,344	I271T	probably damaging	Het
Olfr607	C	T	7: 103,460,879	V110I	possibly damaging	Het
Olfr790	A	T	10: 129,500,894	L3F	probably benign	Het
Olfr790	A	G	10: 129,500,910	M1V	probably null	Het
Pcid2	C	T	8: 13,100,320		probably null	Het
Pld4	A	C	12: 112,764,117	I145L	probably benign	Het
Pogk	A	T	1: 166,409,011		probably benign	Het
Rhbg	C	T	3: 88,245,567	V280I	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rxfp3	A	G	15: 11,036,164	F374S	possibly damaging	Het
Son	A	G	16: 91,660,052		probably benign	Het
Specc1l	G	T	10: 75,276,921	R994L	probably damaging	Het
Tas2r135	T	A	6: 42,405,597	D23E	probably damaging	Het
Teddm2	A	T	1: 153,851,064	H21Q	probably benign	Het
Tet1	T	C	10: 62,839,958	T780A	possibly damaging	Het
Thbs1	T	A	2: 118,122,508	D866E	probably damaging	Het
Tmed4	A	G	11: 6,271,743	W198R	probably damaging	Het
Ttn	A	T	2: 76,919,231	C3825S	probably benign	Het
Uchl1	T	A	5: 66,676,411		probably benign	Het
Wsb2	A	G	5: 117,377,418	T363A	possibly damaging	Het
Zfp266	A	G	9: 20,506,036	Y19H	probably damaging	Het
Zkscan17	A	G	11: 59,487,260	C366R	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
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	not run
Z1177:Flg2	UTSW	3	93202420	missense	unknown
Z1177:Flg2	UTSW	3	93202738	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCAGACACAGTAGATGTCATCATGC -3'
(R):5'- GACCAAAGATAGACCCATGGTG -3'

Sequencing Primer
(F):5'- CATATGTTGGATCGAGATCATGACCG -3'
(R):5'- GAGCTGGATAATTCATCTTGCC -3'

Posted On

2016-12-15