Mutagenetix > Incidental Mutation

Incidental Mutation 'R4207:Flg'

318954

Institutional Source

Beutler Lab

Gene Symbol

Flg

Ensembl Gene

ENSMUSG00000102439

Gene Name

filaggrin

Synonyms

ft, fillagrin, profilaggrin

MMRRC Submission

041036-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.345) question?

Stock #

R4207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93273523-93293686 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93279862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 207 (Y207C)

Ref Sequence

ENSEMBL: ENSMUSP00000142003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178008] [ENSMUST00000178695] [ENSMUST00000178752] [ENSMUST00000180308]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122125

Predicted Effect

probably benign
Transcript: ENSMUST00000148311
AA Change: Y207C

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141768
Gene: ENSMUSG00000081977
AA Change: Y207C

Domain	Start	End	E-Value	Type
Pfam:S_100	4	47	1.1e-15	PFAM
low complexity region	72	88	N/A	INTRINSIC
low complexity region	111	117	N/A	INTRINSIC
low complexity region	288	337	N/A	INTRINSIC
low complexity region	339	357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178008

SMART Domains

Protein: ENSMUSP00000141981
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	168	N/A	INTRINSIC
low complexity region	173	204	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178695

SMART Domains

Protein: ENSMUSP00000141392
Gene: ENSMUSG00000102439

Domain	Start	End	E-Value	Type
low complexity region	15	66	N/A	INTRINSIC
low complexity region	94	109	N/A	INTRINSIC
low complexity region	115	135	N/A	INTRINSIC
low complexity region	144	207	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178752

SMART Domains

Protein: ENSMUSP00000141273
Gene: ENSMUSG00000102439

Domain	Start	End	E-Value	Type
low complexity region	10	59	N/A	INTRINSIC
low complexity region	87	102	N/A	INTRINSIC
low complexity region	108	128	N/A	INTRINSIC
low complexity region	137	200	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000180308
AA Change: Y207C

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142003
Gene: ENSMUSG00000102439
AA Change: Y207C

Domain	Start	End	E-Value	Type
Pfam:S_100	4	47	1.1e-15	PFAM
low complexity region	72	88	N/A	INTRINSIC
low complexity region	111	117	N/A	INTRINSIC
low complexity region	288	337	N/A	INTRINSIC
low complexity region	339	357	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216295

Meta Mutation Damage Score

0.2078

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,981,725	Q17*	probably null	Het
Acap2	T	A	16: 31,119,427	N293I	probably damaging	Het
Adgrg4	G	A	X: 56,918,749	V1893I	possibly damaging	Het
Aff1	T	C	5: 103,818,988		probably null	Het
Ap1b1	A	G	11: 5,031,637	D515G	probably damaging	Het
Brk1	T	C	6: 113,615,844	Y63H	possibly damaging	Het
Cand1	T	C	10: 119,211,845	D580G	probably damaging	Het
Casp4	A	G	9: 5,328,451	D311G	probably benign	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ctnnd2	G	T	15: 30,972,827	V1033F	probably damaging	Het
Dhx29	G	T	13: 112,927,949	A53S	probably benign	Het
Dis3	T	G	14: 99,095,316	I227L	probably benign	Het
Efhc2	T	C	X: 17,230,550	N186S	possibly damaging	Het
Efl1	T	C	7: 82,750,816	V592A	probably damaging	Het
Elovl7	A	T	13: 108,282,506	Q224L	possibly damaging	Het
Fcgr3	T	A	1: 171,054,075	K160N	probably benign	Het
Fmn2	A	G	1: 174,581,955	T585A	unknown	Het
Gm7135	T	C	1: 97,469,895		noncoding transcript	Het
Gm8104	G	T	14: 43,101,634	D94Y	probably damaging	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Ino80b	G	C	6: 83,122,333	P178R	probably damaging	Het
Kbtbd4	T	C	2: 90,909,755	F495L	probably damaging	Het
Lingo2	T	C	4: 35,709,810	I57V	probably benign	Het
Me2	T	C	18: 73,791,085	K352R	probably benign	Het
Mthfsd	A	G	8: 121,105,626	V133A	probably damaging	Het
Nav2	T	A	7: 49,572,298		probably null	Het
Nav2	T	A	7: 49,597,231	I2168N	probably damaging	Het
Nlrp10	T	A	7: 108,924,341	D644V	possibly damaging	Het
Olfr1472	T	C	19: 13,454,471	I15M	probably benign	Het
Olfr148	A	G	9: 39,613,957	Y130C	possibly damaging	Het
Olfr15	T	C	16: 3,839,570	L199P	probably damaging	Het
Oplah	C	T	15: 76,302,710	R635H	probably damaging	Het
Peli1	A	G	11: 21,147,115		probably null	Het
Pfkfb1	A	T	X: 150,622,188	D208V	possibly damaging	Het
Pld5	T	G	1: 175,993,875	T242P	probably damaging	Het
Rbm5	A	G	9: 107,750,483	S420P	probably benign	Het
Rhag	A	T	17: 40,831,653	I250F	probably damaging	Het
Rnase4	A	G	14: 51,105,005	K62R	probably benign	Het
Scaf4	C	T	16: 90,260,215	V83I	unknown	Het
Slc24a2	A	G	4: 87,227,205	V204A	probably damaging	Het
Slc5a8	G	T	10: 88,911,413	L409F	probably damaging	Het
Spns3	A	T	11: 72,538,361	V199E	probably damaging	Het
Sspo	A	G	6: 48,478,293	T3030A	probably benign	Het
Sstr2	A	C	11: 113,624,656	T134P	probably damaging	Het
Stk39	G	T	2: 68,220,920	T527K	probably benign	Het
Sult2a1	T	A	7: 13,801,547	T194S	probably benign	Het
Tamm41	AGGG	AGG	6: 115,012,359		probably benign	Het
Trav7-3	A	G	14: 53,443,746	T82A	probably benign	Het
Umodl1	G	A	17: 30,959,367	V106I	probably damaging	Het
Vmn2r85	A	C	10: 130,418,705	C703W	probably damaging	Het
Vmn2r92	G	A	17: 18,184,261	V556M	possibly damaging	Het
Zfp292	T	C	4: 34,806,079	I2322V	probably benign	Het
Zfp644	T	C	5: 106,618,276	E93G	probably damaging	Het
Zfp81	C	T	17: 33,334,916	C308Y	probably damaging	Het

Other mutations in Flg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Flg	APN	3	93279599	missense	probably benign	0.41
FR4342:Flg	UTSW	3	93290513	unclassified	probably benign
R0046:Flg	UTSW	3	93277721	splice site	probably benign
R0046:Flg	UTSW	3	93277721	splice site	probably benign
R0538:Flg	UTSW	3	93279460	missense	probably damaging	1.00
R1751:Flg	UTSW	3	93279913	missense	possibly damaging	0.91
R1767:Flg	UTSW	3	93279913	missense	possibly damaging	0.91
R2024:Flg	UTSW	3	93279415	missense	probably damaging	0.99
R2213:Flg	UTSW	3	93293028	unclassified	probably benign
R2311:Flg	UTSW	3	93292953	unclassified	probably benign
R2513:Flg	UTSW	3	93279786	missense	possibly damaging	0.83
R3892:Flg	UTSW	3	93279526	missense	probably benign	0.01
R3911:Flg	UTSW	3	93280000	missense	probably benign	0.01
R4385:Flg	UTSW	3	93293009	unclassified	probably benign
R4939:Flg	UTSW	3	93279847	missense	probably benign	0.00
R5084:Flg	UTSW	3	93277615	missense	probably damaging	0.99
R5540:Flg	UTSW	3	93277616	missense	probably damaging	1.00
R5925:Flg	UTSW	3	93279399	missense	probably damaging	0.98
R5972:Flg	UTSW	3	93279542	missense	probably benign	0.00
R6130:Flg	UTSW	3	93292716	unclassified	probably benign
R6144:Flg	UTSW	3	93283208	unclassified	probably benign
R6184:Flg	UTSW	3	93280050	missense	probably benign	0.04
R6230:Flg	UTSW	3	93279475	missense	probably damaging	1.00
R6268:Flg	UTSW	3	93288175	unclassified	probably benign
R6360:Flg	UTSW	3	93290601	unclassified	probably benign
R6400:Flg	UTSW	3	93279921	missense	probably benign	0.41
R6464:Flg	UTSW	3	93281381	unclassified	probably benign
R6586:Flg	UTSW	3	93292983	unclassified	probably benign
R6685:Flg	UTSW	3	93279409	missense	possibly damaging	0.53
R6769:Flg	UTSW	3	93288323	unclassified	probably benign
R6771:Flg	UTSW	3	93288323	unclassified	probably benign
R6948:Flg	UTSW	3	93288168	unclassified	probably benign
R7102:Flg	UTSW	3	93293028	missense	unknown
R7186:Flg	UTSW	3	93279945	nonsense	probably null
R7222:Flg	UTSW	3	93288314	missense	unknown
R7248:Flg	UTSW	3	93281734	missense	probably benign	0.33
R7702:Flg	UTSW	3	93292782	missense	unknown
R7962:Flg	UTSW	3	93286677	missense	unknown
R8109:Flg	UTSW	3	93290427	missense	unknown
R8308:Flg	UTSW	3	93283279	missense	unknown
R8322:Flg	UTSW	3	93284332	missense	unknown
R8544:Flg	UTSW	3	93288141	unclassified	probably benign
R9219:Flg	UTSW	3	93291099	missense	possibly damaging	0.72
Z1176:Flg	UTSW	3	93279962	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCTTAGACGGAGGCATGGTG -3'
(R):5'- CCTTCAGAGTCACTGTTGTCTG -3'

Sequencing Primer
(F):5'- CGGAGGCATGGTGGAACTG -3'
(R):5'- AGAGTCACTGTTGTCTGCCTGAC -3'

Posted On

2015-06-10