Mutagenetix > Incidental Mutation

Incidental Mutation 'R7100:Flg2'

550752

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

MMRRC Submission

045192-MU

Accession Numbers

Essential gene?

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

Stock #

R7100 (G1)

Quality Score

198.009

Status

Validated

Chromosome

Chromosomal Location

93104585-93128698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93111018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1015 (R1015S)

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: R1015S

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: R1015S

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

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	G	2: 154,394,315 (GRCm39)	E89G	probably damaging	Het
Adgrv1	A	T	13: 81,419,016 (GRCm39)	V5993E	probably damaging	Het
Amdhd1	T	C	10: 93,372,936 (GRCm39)		probably null	Het
Amph	T	C	13: 19,334,011 (GRCm39)	*691Q	probably null	Het
Ankrd55	A	G	13: 112,492,644 (GRCm39)	K272E	probably benign	Het
Arhgef10l	C	T	4: 140,244,126 (GRCm39)	V838I	possibly damaging	Het
Arl2	C	A	19: 6,184,774 (GRCm39)	V160F	probably benign	Het
Catsperb	T	C	12: 101,412,297 (GRCm39)	V128A	possibly damaging	Het
Cdk11b	T	A	4: 155,710,050 (GRCm39)	L17H	probably damaging	Het
Cpsf1	A	T	15: 76,480,314 (GRCm39)	N1391K	possibly damaging	Het
Cpxm2	C	T	7: 131,656,544 (GRCm39)	A573T	probably benign	Het
Cspg4b	T	A	13: 113,455,501 (GRCm39)	F516I		Het
Daxx	T	C	17: 34,130,416 (GRCm39)	S144P	probably damaging	Het
Dpp3	T	C	19: 4,968,069 (GRCm39)	D303G	probably damaging	Het
Fam181a	T	A	12: 103,282,132 (GRCm39)	N12K	probably damaging	Het
Fstl5	A	G	3: 76,443,600 (GRCm39)	H315R	probably benign	Het
Fut4	A	G	9: 14,662,689 (GRCm39)	S202P	probably damaging	Het
Gm5114	T	C	7: 39,057,708 (GRCm39)	D637G	possibly damaging	Het
Gstcd	G	T	3: 132,790,704 (GRCm39)	T21K	probably benign	Het
Heca	C	T	10: 17,791,121 (GRCm39)	V312M	probably benign	Het
Herpud1	A	G	8: 95,117,475 (GRCm39)	R144G	probably damaging	Het
Hycc2	T	A	1: 58,573,653 (GRCm39)	T384S	possibly damaging	Het
Ino80	A	G	2: 119,204,994 (GRCm39)	S1511P	possibly damaging	Het
Irf2bp2	T	C	8: 127,318,472 (GRCm39)	T365A	probably benign	Het
Klk1	G	A	7: 43,878,848 (GRCm39)	G214E	probably damaging	Het
Lama3	A	T	18: 12,715,701 (GRCm39)	N1719I	possibly damaging	Het
Lmna	A	G	3: 88,392,297 (GRCm39)	I365T	probably damaging	Het
Lrp8	C	A	4: 107,659,647 (GRCm39)	A13E	possibly damaging	Het
Ly75	A	G	2: 60,136,778 (GRCm39)	L1483P	probably benign	Het
Maco1	T	C	4: 134,533,971 (GRCm39)	D550G	probably damaging	Het
Mid1	A	G	X: 168,768,073 (GRCm39)	D407G	probably benign	Het
Mpl	G	T	4: 118,314,607 (GRCm39)	A21E		Het
Mus81	C	T	19: 5,534,239 (GRCm39)	G360S	probably damaging	Het
Nmt2	T	A	2: 3,313,950 (GRCm39)	S250T	probably benign	Het
Nr1d1	C	A	11: 98,662,160 (GRCm39)	R158L	probably damaging	Het
Pcgf6	G	A	19: 47,039,153 (GRCm39)	P36S	unknown	Het
Pcnx2	G	A	8: 126,485,853 (GRCm39)	A1915V	probably benign	Het
Peak1	A	G	9: 56,166,677 (GRCm39)	V417A	probably damaging	Het
Phf20l1	A	G	15: 66,476,689 (GRCm39)	N262S	probably benign	Het
Plaat5	T	A	19: 7,616,923 (GRCm39)	F313I	unknown	Het
Ppp2r5d	A	G	17: 46,996,608 (GRCm39)	V355A	probably benign	Het
Rasa3	T	C	8: 13,636,897 (GRCm39)	T395A	probably benign	Het
Rims1	T	A	1: 22,416,697 (GRCm39)	I432F	probably benign	Het
Rnf123	C	T	9: 107,933,838 (GRCm39)	C1080Y	probably damaging	Het
Serpina3g	T	C	12: 104,204,570 (GRCm39)		probably benign	Het
Shank2	T	A	7: 143,964,901 (GRCm39)	D836E	possibly damaging	Het
Slc24a5	A	C	2: 124,922,591 (GRCm39)	S118R	probably damaging	Het
Smg1	G	T	7: 117,783,743 (GRCm39)	H1048N	unknown	Het
Specc1l	T	G	10: 75,081,329 (GRCm39)	S242A	probably benign	Het
Tagap1	A	T	17: 7,224,111 (GRCm39)	L195Q	possibly damaging	Het
Trpc3	C	A	3: 36,704,216 (GRCm39)	E580D	probably benign	Het
Ttn	A	T	2: 76,541,166 (GRCm39)	V33940E	probably benign	Het
Upp2	G	T	2: 58,681,817 (GRCm39)	R318L	probably benign	Het
Vezt	T	A	10: 93,832,795 (GRCm39)	E205D	probably benign	Het
Vmn1r177	A	G	7: 23,565,535 (GRCm39)	F114L	probably benign	Het
Vmn2r53	C	A	7: 12,315,513 (GRCm39)	E769*	probably null	Het
Vnn3	T	C	10: 23,741,840 (GRCm39)	Y382H	probably damaging	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
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
R8670:Flg2	UTSW	3	93,108,791 (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'- GATCACCAGTACACCCTGAG -3'
(R):5'- TGTCTACTGCTGTCCTGAGAGG -3'

Sequencing Primer
(F):5'- CAGTAGTCCCACGGAGATATTCTG -3'
(R):5'- TCCTGAGAGGGCCCTTGAG -3'

Posted On

2019-05-15