Mutagenetix > Incidental Mutation

Incidental Mutation 'R8670:Flg2'

661085

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

MMRRC Submission

068525-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R8670 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93104585-93128698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93108791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 273 (Q273L)

Ref Sequence

ENSEMBL: ENSMUSP00000096482 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000098884
AA Change: Q273L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: Q273L

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: 99.2%
20x: 96.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,966,424 (GRCm39)	L403Q	probably damaging	Het
Actl11	T	C	9: 107,805,959 (GRCm39)	F94S	possibly damaging	Het
Adam34	C	T	8: 44,105,126 (GRCm39)	C173Y	possibly damaging	Het
Ankrd24	C	T	10: 81,465,526 (GRCm39)		probably benign	Het
Armh2	A	G	13: 24,930,240 (GRCm39)	E162G	probably benign	Het
Atp12a	A	T	14: 56,617,546 (GRCm39)	D612V	probably damaging	Het
Cacna2d1	T	C	5: 16,140,013 (GRCm39)	M1T	probably null	Het
Ccdc178	T	C	18: 22,230,719 (GRCm39)	E384G	possibly damaging	Het
Cd82	T	A	2: 93,250,905 (GRCm39)	T212S	probably benign	Het
Cdk17	T	A	10: 93,061,958 (GRCm39)	L263*	probably null	Het
Cfap57	T	G	4: 118,472,122 (GRCm39)	I86L	possibly damaging	Het
Chd5	T	C	4: 152,469,953 (GRCm39)	M1842T	possibly damaging	Het
Clcn7	T	C	17: 25,378,588 (GRCm39)	F691S	probably damaging	Het
Cpvl	A	T	6: 53,951,780 (GRCm39)	M1K	probably null	Het
Cym	T	C	3: 107,118,812 (GRCm39)		probably null	Het
Diaph3	T	C	14: 86,893,835 (GRCm39)	E1147G	probably benign	Het
Eif4g3	T	G	4: 137,885,823 (GRCm39)		probably null	Het
Esp3	A	G	17: 40,943,040 (GRCm39)	D11G	probably benign	Het
Exoc1	A	G	5: 76,717,505 (GRCm39)	Y865C	probably damaging	Het
Fuca1	G	A	4: 135,650,282 (GRCm39)	V118I	possibly damaging	Het
Gga3	T	C	11: 115,478,542 (GRCm39)	N417D	probably benign	Het
Il1rl1	A	T	1: 40,480,559 (GRCm39)	I63F	probably damaging	Het
Kif26b	A	G	1: 178,741,349 (GRCm39)	Y785C	probably damaging	Het
Kif5b	A	C	18: 6,214,631 (GRCm39)	S599A	probably benign	Het
Klhl22	T	A	16: 17,594,327 (GRCm39)	I152N	probably damaging	Het
Mex3c	GC	G	18: 73,722,776 (GRCm39)		probably null	Het
Muc21	T	A	17: 35,932,540 (GRCm39)	T549S	unknown	Het
Or52n2c	A	T	7: 104,574,419 (GRCm39)	M184K	probably damaging	Het
Or8g2	A	G	9: 39,821,719 (GRCm39)	I207V	probably benign	Het
Orc3	A	T	4: 34,572,529 (GRCm39)	I633N	probably damaging	Het
Pclo	G	A	5: 14,732,061 (GRCm39)	R3521H	unknown	Het
Plec	A	G	15: 76,061,726 (GRCm39)	L2737P	probably damaging	Het
Prom1	T	A	5: 44,159,186 (GRCm39)	I813F	probably benign	Het
Prpf40b	T	A	15: 99,207,621 (GRCm39)	M517K	probably damaging	Het
Rab8a	TA	TAA	8: 72,925,130 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,349,563 (GRCm39)	L3808P		Het
Scnn1b	A	G	7: 121,498,472 (GRCm39)	K4R	probably benign	Het
Siglec1	A	G	2: 130,923,387 (GRCm39)	S453P	probably damaging	Het
Sim1	A	G	10: 50,784,849 (GRCm39)	K165E	probably damaging	Het
Slc49a4	G	T	16: 35,556,005 (GRCm39)	Q152K	possibly damaging	Het
Slco1a7	G	A	6: 141,711,468 (GRCm39)	T81I	possibly damaging	Het
Smarce1	T	C	11: 99,101,098 (GRCm39)	T345A	possibly damaging	Het
Spty2d1	T	C	7: 46,647,519 (GRCm39)	N470S	probably benign	Het
Stab2	T	A	10: 86,776,587 (GRCm39)	D763V	probably damaging	Het
Tbl1xr1	A	T	3: 22,245,164 (GRCm39)	E171D	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tex15	T	A	8: 34,064,746 (GRCm39)	I1392K	probably benign	Het
Thada	T	C	17: 84,739,774 (GRCm39)	E827G	probably benign	Het
Ttc3	A	G	16: 94,191,067 (GRCm39)	Y185C	probably damaging	Het
Vmn2r18	C	A	5: 151,485,854 (GRCm39)	D547Y	probably damaging	Het
Wdpcp	T	C	11: 21,645,196 (GRCm39)	V208A	probably benign	Het
Zfp322a	T	A	13: 23,541,274 (GRCm39)	Q156L	possibly damaging	Het
Zfp947	T	C	17: 22,364,687 (GRCm39)	D329G	probably benign	Het

Other mutations in Flg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Flg2	APN	3	93,109,416 (GRCm39)	nonsense	probably null
IGL00092:Flg2	APN	3	93,127,162 (GRCm39)	missense	possibly damaging	0.90
IGL00985:Flg2	APN	3	93,110,585 (GRCm39)	missense	unknown
IGL01077:Flg2	APN	3	93,127,513 (GRCm39)	missense	unknown
IGL01093:Flg2	APN	3	93,109,678 (GRCm39)	missense	unknown
IGL01120:Flg2	APN	3	93,108,475 (GRCm39)	missense	probably damaging	0.99
IGL01473:Flg2	APN	3	93,110,327 (GRCm39)	missense	unknown
IGL01584:Flg2	APN	3	93,122,777 (GRCm39)	missense	unknown
IGL01584:Flg2	APN	3	93,120,773 (GRCm39)	missense	unknown
IGL01686:Flg2	APN	3	93,109,591 (GRCm39)	missense	unknown
IGL02207:Flg2	APN	3	93,127,435 (GRCm39)	missense	unknown
IGL02294:Flg2	APN	3	93,111,053 (GRCm39)	missense	unknown
IGL02418:Flg2	APN	3	93,108,361 (GRCm39)	missense	probably benign	0.26
IGL02581:Flg2	APN	3	93,127,199 (GRCm39)	missense	unknown
IGL02719:Flg2	APN	3	93,127,438 (GRCm39)	nonsense	probably null
IGL02795:Flg2	APN	3	93,110,920 (GRCm39)	missense	unknown
IGL02893:Flg2	APN	3	93,110,920 (GRCm39)	missense	unknown
IGL02958:Flg2	APN	3	93,110,920 (GRCm39)	missense	unknown
IGL03060:Flg2	APN	3	93,110,920 (GRCm39)	missense	unknown
IGL03088:Flg2	APN	3	93,110,498 (GRCm39)	missense	unknown
IGL03165:Flg2	APN	3	93,121,918 (GRCm39)	missense	unknown
IGL03342:Flg2	APN	3	93,108,542 (GRCm39)	missense	probably damaging	1.00
IGL03352:Flg2	APN	3	93,109,801 (GRCm39)	missense	unknown
IGL02796:Flg2	UTSW	3	93,110,920 (GRCm39)	missense	unknown
IGL02837:Flg2	UTSW	3	93,109,044 (GRCm39)	missense	probably damaging	1.00
PIT4618001:Flg2	UTSW	3	93,111,088 (GRCm39)	missense	unknown
R0087:Flg2	UTSW	3	93,109,738 (GRCm39)	missense	unknown
R0233:Flg2	UTSW	3	93,109,104 (GRCm39)	nonsense	probably null
R0233:Flg2	UTSW	3	93,109,104 (GRCm39)	nonsense	probably null
R0315:Flg2	UTSW	3	93,122,029 (GRCm39)	missense	unknown
R0390:Flg2	UTSW	3	93,107,662 (GRCm39)	splice site	probably benign
R0462:Flg2	UTSW	3	93,108,744 (GRCm39)	missense	probably benign	0.18
R0553:Flg2	UTSW	3	93,110,891 (GRCm39)	missense	unknown
R0828:Flg2	UTSW	3	93,110,639 (GRCm39)	missense	unknown
R1006:Flg2	UTSW	3	93,108,514 (GRCm39)	missense	probably benign	0.41
R1444:Flg2	UTSW	3	93,109,620 (GRCm39)	missense	unknown
R1497:Flg2	UTSW	3	93,127,076 (GRCm39)	missense	unknown
R1518:Flg2	UTSW	3	93,110,445 (GRCm39)	missense	unknown
R1737:Flg2	UTSW	3	93,110,928 (GRCm39)	missense	unknown
R1780:Flg2	UTSW	3	93,110,306 (GRCm39)	missense	unknown
R1797:Flg2	UTSW	3	93,108,283 (GRCm39)	missense	probably damaging	1.00
R2065:Flg2	UTSW	3	93,109,538 (GRCm39)	missense	unknown
R2168:Flg2	UTSW	3	93,109,244 (GRCm39)	missense	probably damaging	1.00
R2220:Flg2	UTSW	3	93,109,492 (GRCm39)	missense	unknown
R2292:Flg2	UTSW	3	93,127,984 (GRCm39)	missense	unknown
R2327:Flg2	UTSW	3	93,110,913 (GRCm39)	nonsense	probably null
R2512:Flg2	UTSW	3	93,109,082 (GRCm39)	missense	probably damaging	1.00
R3177:Flg2	UTSW	3	93,122,195 (GRCm39)	missense	unknown
R3277:Flg2	UTSW	3	93,122,195 (GRCm39)	missense	unknown
R3522:Flg2	UTSW	3	93,127,334 (GRCm39)	missense	unknown
R3779:Flg2	UTSW	3	93,109,730 (GRCm39)	missense	unknown
R3926:Flg2	UTSW	3	93,110,522 (GRCm39)	missense	unknown
R4082:Flg2	UTSW	3	93,110,828 (GRCm39)	missense	unknown
R4407:Flg2	UTSW	3	93,122,176 (GRCm39)	missense	unknown
R5152:Flg2	UTSW	3	93,122,284 (GRCm39)	missense	unknown
R5253:Flg2	UTSW	3	93,108,119 (GRCm39)	missense	probably damaging	1.00
R5290:Flg2	UTSW	3	93,127,873 (GRCm39)	missense	unknown
R5464:Flg2	UTSW	3	93,109,277 (GRCm39)	missense	possibly damaging	0.73
R5539:Flg2	UTSW	3	93,127,753 (GRCm39)	missense	unknown
R5622:Flg2	UTSW	3	93,109,871 (GRCm39)	missense	unknown
R5788:Flg2	UTSW	3	93,108,296 (GRCm39)	missense	probably benign	0.41
R5792:Flg2	UTSW	3	93,110,804 (GRCm39)	missense	unknown
R5831:Flg2	UTSW	3	93,107,541 (GRCm39)	missense	probably damaging	1.00
R5877:Flg2	UTSW	3	93,110,756 (GRCm39)	missense	unknown
R6041:Flg2	UTSW	3	93,127,668 (GRCm39)	missense	probably benign	0.01
R6189:Flg2	UTSW	3	93,127,381 (GRCm39)	missense	unknown
R6214:Flg2	UTSW	3	93,109,166 (GRCm39)	missense	possibly damaging	0.83
R6215:Flg2	UTSW	3	93,109,166 (GRCm39)	missense	possibly damaging	0.83
R6239:Flg2	UTSW	3	93,108,579 (GRCm39)	missense	probably benign	0.36
R6288:Flg2	UTSW	3	93,111,092 (GRCm39)	missense	unknown
R6413:Flg2	UTSW	3	93,127,683 (GRCm39)	missense	unknown
R6457:Flg2	UTSW	3	93,127,789 (GRCm39)	missense	unknown
R6468:Flg2	UTSW	3	93,121,728 (GRCm39)	missense	unknown
R6667:Flg2	UTSW	3	93,109,068 (GRCm39)	missense	possibly damaging	0.88
R6930:Flg2	UTSW	3	93,108,642 (GRCm39)	nonsense	probably null
R6996:Flg2	UTSW	3	93,110,256 (GRCm39)	missense	unknown
R6996:Flg2	UTSW	3	93,109,977 (GRCm39)	missense	unknown
R7100:Flg2	UTSW	3	93,111,018 (GRCm39)	missense	unknown
R7133:Flg2	UTSW	3	93,127,069 (GRCm39)	missense	unknown
R7180:Flg2	UTSW	3	93,110,140 (GRCm39)	missense	unknown
R7325:Flg2	UTSW	3	93,110,679 (GRCm39)	missense	unknown
R7349:Flg2	UTSW	3	93,127,513 (GRCm39)	missense	unknown
R7531:Flg2	UTSW	3	93,108,177 (GRCm39)	missense	probably damaging	0.99
R7571:Flg2	UTSW	3	93,127,303 (GRCm39)	nonsense	probably null
R7684:Flg2	UTSW	3	93,126,956 (GRCm39)	missense	unknown
R7810:Flg2	UTSW	3	93,107,548 (GRCm39)	missense	possibly damaging	0.70
R7853:Flg2	UTSW	3	93,128,054 (GRCm39)	missense	unknown
R8031:Flg2	UTSW	3	93,127,521 (GRCm39)	missense	unknown
R8078:Flg2	UTSW	3	93,107,582 (GRCm39)	missense	probably damaging	1.00
R8142:Flg2	UTSW	3	93,122,782 (GRCm39)	nonsense	probably null
R8156:Flg2	UTSW	3	93,127,390 (GRCm39)	missense	unknown
R8172:Flg2	UTSW	3	93,108,468 (GRCm39)	missense	possibly damaging	0.94
R8204:Flg2	UTSW	3	93,110,074 (GRCm39)	missense	unknown
R8262:Flg2	UTSW	3	93,127,517 (GRCm39)	missense	unknown
R8269:Flg2	UTSW	3	93,109,187 (GRCm39)	missense	possibly damaging	0.68
R8290:Flg2	UTSW	3	93,110,069 (GRCm39)	missense	unknown
R8444:Flg2	UTSW	3	93,107,585 (GRCm39)	missense	probably damaging	0.97
R8755:Flg2	UTSW	3	93,108,120 (GRCm39)	missense	probably damaging	1.00
R9039:Flg2	UTSW	3	93,110,899 (GRCm39)	missense	unknown
R9116:Flg2	UTSW	3	93,109,591 (GRCm39)	missense	unknown
R9214:Flg2	UTSW	3	93,110,884 (GRCm39)	missense	unknown
R9231:Flg2	UTSW	3	93,109,508 (GRCm39)	missense	unknown
R9553:Flg2	UTSW	3	93,121,901 (GRCm39)	missense	unknown
R9607:Flg2	UTSW	3	93,108,719 (GRCm39)	missense	probably damaging	0.98
R9735:Flg2	UTSW	3	93,127,669 (GRCm39)	missense	unknown
R9752:Flg2	UTSW	3	93,108,467 (GRCm39)	missense	probably damaging	0.98
Z1177:Flg2	UTSW	3	93,110,045 (GRCm39)	missense	unknown
Z1177:Flg2	UTSW	3	93,109,727 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAGACAAGTCATATGATAGCCCC -3'
(R):5'- TTGACAACATCTAGAGGACTGACC -3'

Sequencing Primer
(F):5'- TGATAGCCCCTCTAGAGAATCTGAG -3'
(R):5'- GGACTGACCTTCTGAGACAC -3'

Posted On

2021-03-08