Mutagenetix > Incidental Mutation

Incidental Mutation 'R2213:Flg'

239503

Institutional Source

Beutler Lab

Gene Symbol

Flg

Ensembl Gene

ENSMUSG00000102439

Gene Name

filaggrin

Synonyms

profilaggrin, ft, fillagrin

MMRRC Submission

040215-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R2213 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

93180853-93200996 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 93200335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050758] [ENSMUST00000179250] [ENSMUST00000180293]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000050758
AA Change: V277A

SMART Domains

Protein: ENSMUSP00000142294
Gene: ENSMUSG00000102439
AA Change: V277A

Domain	Start	End	E-Value	Type
low complexity region	6	26	N/A	INTRINSIC
low complexity region	35	98	N/A	INTRINSIC
low complexity region	154	207	N/A	INTRINSIC
low complexity region	235	276	N/A	INTRINSIC
low complexity region	285	315	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179250

SMART Domains

Protein: ENSMUSP00000141513
Gene: ENSMUSG00000102439

Domain	Start	End	E-Value	Type
low complexity region	9	62	N/A	INTRINSIC
low complexity region	90	105	N/A	INTRINSIC
low complexity region	109	138	N/A	INTRINSIC
low complexity region	140	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000180293

SMART Domains

Protein: ENSMUSP00000141844
Gene: ENSMUSG00000102439

Domain	Start	End	E-Value	Type
low complexity region	10	63	N/A	INTRINSIC
low complexity region	91	106	N/A	INTRINSIC
low complexity region	112	132	N/A	INTRINSIC
low complexity region	141	204	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214837

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,326,247 (GRCm39)	D78G	probably damaging	Het
Anxa1	C	T	19: 20,360,239 (GRCm39)	R124H	probably damaging	Het
Arhgef4	G	A	1: 34,846,230 (GRCm39)		probably null	Het
C87436	G	A	6: 86,422,455 (GRCm39)	V10I	probably benign	Het
Ces1a	G	T	8: 93,751,853 (GRCm39)	P427Q	probably damaging	Het
Cpm	T	C	10: 117,495,744 (GRCm39)	Y78H	probably damaging	Het
Csmd3	G	A	15: 47,683,843 (GRCm39)	T1663I	possibly damaging	Het
Cul7	T	C	17: 46,962,398 (GRCm39)	F10L	probably damaging	Het
Cyp2j5	T	C	4: 96,547,852 (GRCm39)	N130S	probably benign	Het
Dclk1	G	A	3: 55,387,854 (GRCm39)	C100Y	probably damaging	Het
Ddb1	T	C	19: 10,585,691 (GRCm39)	L135P	probably damaging	Het
Dixdc1	A	G	9: 50,613,245 (GRCm39)	S211P	probably benign	Het
Dnah12	G	T	14: 26,460,485 (GRCm39)	K970N	probably benign	Het
Eps15	A	G	4: 109,218,417 (GRCm39)	K391E	probably damaging	Het
Fabp9	A	G	3: 10,259,860 (GRCm39)	V51A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652 (GRCm38)		probably benign	Het
Fscb	A	T	12: 64,520,890 (GRCm39)	I192N	possibly damaging	Het
Galntl5	A	G	5: 25,422,527 (GRCm39)	I333V	probably benign	Het
Gcnt3	A	T	9: 69,941,989 (GRCm39)	V193E	probably benign	Het
Gle1	T	C	2: 29,839,313 (GRCm39)	F535S	probably damaging	Het
Gpr87	A	T	3: 59,086,465 (GRCm39)	S347T	probably damaging	Het
Gstm2	C	T	3: 107,893,409 (GRCm39)	R18H	probably damaging	Het
H1f7	T	A	15: 98,154,219 (GRCm39)	Q310L	unknown	Het
Haus6	C	T	4: 86,500,229 (GRCm39)	E927K	possibly damaging	Het
Hunk	A	G	16: 90,229,505 (GRCm39)	N122S	probably damaging	Het
Itih4	T	A	14: 30,612,670 (GRCm39)	V232E	probably damaging	Het
Jag1	G	T	2: 136,931,812 (GRCm39)	D586E	probably benign	Het
Klk1b1	T	C	7: 43,619,905 (GRCm39)	S155P	probably damaging	Het
Lama1	G	T	17: 68,084,029 (GRCm39)	G1424*	probably null	Het
Lrp1	T	A	10: 127,376,571 (GRCm39)	N4279I	probably damaging	Het
Lrrc43	G	A	5: 123,641,640 (GRCm39)	V525I	possibly damaging	Het
Lrrc4c	G	A	2: 97,460,816 (GRCm39)	V481M	probably benign	Het
Mecr	T	A	4: 131,581,126 (GRCm39)		probably null	Het
Megf10	T	A	18: 57,421,081 (GRCm39)	Y906*	probably null	Het
Mpdz	A	G	4: 81,228,409 (GRCm39)	F1319L	probably damaging	Het
Mtf2	A	G	5: 108,248,780 (GRCm39)	E364G	possibly damaging	Het
Nelfe	T	A	17: 35,072,859 (GRCm39)	D160E	probably benign	Het
Nin	A	G	12: 70,092,128 (GRCm39)	L727P	probably damaging	Het
Npat	A	G	9: 53,463,681 (GRCm39)	T155A	probably benign	Het
Nup58	T	C	14: 60,476,945 (GRCm39)	D242G	probably benign	Het
Or4a78	A	T	2: 89,497,891 (GRCm39)	L113Q	probably damaging	Het
Pnlip	T	C	19: 58,662,202 (GRCm39)	V116A	probably benign	Het
Prl7a2	T	A	13: 27,849,051 (GRCm39)	L79F	probably benign	Het
Rbm25	A	T	12: 83,722,856 (GRCm39)	I760L	probably benign	Het
Rbms3	A	T	9: 116,788,534 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rps10	C	A	17: 27,849,473 (GRCm39)		probably benign	Het
Slc35e4	T	C	11: 3,863,159 (GRCm39)	E10G	possibly damaging	Het
Smad2	A	T	18: 76,437,697 (GRCm39)	T434S	probably damaging	Het
Sox30	C	T	11: 45,875,679 (GRCm39)	S477F	probably damaging	Het
Speer4a3	G	T	5: 26,158,175 (GRCm39)	T59K	probably benign	Het
Stat4	A	T	1: 52,053,014 (GRCm39)	D65V	probably damaging	Het
Strip2	A	G	6: 29,931,147 (GRCm39)	D366G	probably damaging	Het
Syngap1	C	A	17: 27,172,043 (GRCm39)	R84S	probably damaging	Het
Synpo2l	A	G	14: 20,710,734 (GRCm39)	Y629H	probably damaging	Het
Taf4	A	T	2: 179,577,683 (GRCm39)		probably null	Het
Ttc21a	A	G	9: 119,769,527 (GRCm39)	H68R	probably benign	Het
Txndc8	T	A	4: 57,984,199 (GRCm39)	Q144L	probably benign	Het
Tyr	T	G	7: 87,142,086 (GRCm39)	Q158P	probably damaging	Het
Uchl3	T	A	14: 101,904,106 (GRCm39)		probably null	Het
Vwa5b1	T	C	4: 138,332,123 (GRCm39)	K298R	probably benign	Het
Wrn	T	C	8: 33,747,043 (GRCm39)	N891S	probably benign	Het
Ylpm1	A	G	12: 85,116,492 (GRCm39)	S2125G	probably benign	Het

Other mutations in Flg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Flg	APN	3	93,186,906 (GRCm39)	missense	probably benign	0.41
FR4342:Flg	UTSW	3	93,197,820 (GRCm39)	unclassified	probably benign
R0046:Flg	UTSW	3	93,185,028 (GRCm39)	splice site	probably benign
R0046:Flg	UTSW	3	93,185,028 (GRCm39)	splice site	probably benign
R0538:Flg	UTSW	3	93,186,767 (GRCm39)	missense	probably damaging	1.00
R1751:Flg	UTSW	3	93,187,220 (GRCm39)	missense	possibly damaging	0.91
R1767:Flg	UTSW	3	93,187,220 (GRCm39)	missense	possibly damaging	0.91
R2024:Flg	UTSW	3	93,186,722 (GRCm39)	missense	probably damaging	0.99
R2311:Flg	UTSW	3	93,200,260 (GRCm39)	unclassified	probably benign
R2513:Flg	UTSW	3	93,187,093 (GRCm39)	missense	possibly damaging	0.83
R3892:Flg	UTSW	3	93,186,833 (GRCm39)	missense	probably benign	0.01
R3911:Flg	UTSW	3	93,187,307 (GRCm39)	missense	probably benign	0.01
R4207:Flg	UTSW	3	93,187,169 (GRCm39)	missense	probably benign	0.10
R4385:Flg	UTSW	3	93,200,316 (GRCm39)	unclassified	probably benign
R4939:Flg	UTSW	3	93,187,154 (GRCm39)	missense	probably benign	0.00
R5084:Flg	UTSW	3	93,184,922 (GRCm39)	missense	probably damaging	0.99
R5540:Flg	UTSW	3	93,184,923 (GRCm39)	missense	probably damaging	1.00
R5925:Flg	UTSW	3	93,186,706 (GRCm39)	missense	probably damaging	0.98
R5972:Flg	UTSW	3	93,186,849 (GRCm39)	missense	probably benign	0.00
R6130:Flg	UTSW	3	93,200,023 (GRCm39)	unclassified	probably benign
R6144:Flg	UTSW	3	93,190,515 (GRCm39)	unclassified	probably benign
R6184:Flg	UTSW	3	93,187,357 (GRCm39)	missense	probably benign	0.04
R6230:Flg	UTSW	3	93,186,782 (GRCm39)	missense	probably damaging	1.00
R6268:Flg	UTSW	3	93,195,482 (GRCm39)	unclassified	probably benign
R6360:Flg	UTSW	3	93,197,908 (GRCm39)	unclassified	probably benign
R6400:Flg	UTSW	3	93,187,228 (GRCm39)	missense	probably benign	0.41
R6464:Flg	UTSW	3	93,188,688 (GRCm39)	unclassified	probably benign
R6586:Flg	UTSW	3	93,200,290 (GRCm39)	unclassified	probably benign
R6685:Flg	UTSW	3	93,186,716 (GRCm39)	missense	possibly damaging	0.53
R6769:Flg	UTSW	3	93,195,630 (GRCm39)	unclassified	probably benign
R6771:Flg	UTSW	3	93,195,630 (GRCm39)	unclassified	probably benign
R6948:Flg	UTSW	3	93,195,475 (GRCm39)	unclassified	probably benign
R7102:Flg	UTSW	3	93,200,335 (GRCm39)	missense	unknown
R7186:Flg	UTSW	3	93,187,252 (GRCm39)	nonsense	probably null
R7222:Flg	UTSW	3	93,195,621 (GRCm39)	missense	unknown
R7248:Flg	UTSW	3	93,189,041 (GRCm39)	missense	probably benign	0.33
R7702:Flg	UTSW	3	93,200,089 (GRCm39)	missense	unknown
R7962:Flg	UTSW	3	93,193,984 (GRCm39)	missense	unknown
R8109:Flg	UTSW	3	93,197,734 (GRCm39)	missense	unknown
R8308:Flg	UTSW	3	93,190,586 (GRCm39)	missense	unknown
R8322:Flg	UTSW	3	93,191,639 (GRCm39)	missense	unknown
R8544:Flg	UTSW	3	93,195,448 (GRCm39)	unclassified	probably benign
R9219:Flg	UTSW	3	93,198,406 (GRCm39)	missense	possibly damaging	0.72
Z1176:Flg	UTSW	3	93,187,269 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTAACCAAGGGCACAGCTC -3'
(R):5'- ACGATATACCTGGAGATGCATTTAAGC -3'

Sequencing Primer
(F):5'- AAGGGCACAGCTCCTCTC -3'
(R):5'- ATGGACTCATATCCTCCCTG -3'

Posted On

2014-10-15