Mutagenetix > Incidental Mutation

Incidental Mutation 'R6268:Flg'

507137

Institutional Source

Beutler Lab

Gene Symbol

Flg

Ensembl Gene

ENSMUSG00000102439

Gene Name

filaggrin

Synonyms

profilaggrin, ft, fillagrin

MMRRC Submission

044439-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.362) question?

Stock #

R6268 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93180853-93200996 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 93195482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050758] [ENSMUST00000178695] [ENSMUST00000178752] [ENSMUST00000179250] [ENSMUST00000179477] [ENSMUST00000180293]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050758

SMART Domains

Protein: ENSMUSP00000142294
Gene: ENSMUSG00000102439

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: 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

unknown
Transcript: ENSMUST00000179250
AA Change: H27Q

SMART Domains

Protein: ENSMUSP00000141513
Gene: ENSMUSG00000102439
AA Change: H27Q

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: ENSMUST00000179477

SMART Domains

Protein: ENSMUSP00000141987
Gene: ENSMUSG00000102439

Domain	Start	End	E-Value	Type
low complexity region	10	49	N/A	INTRINSIC
internal_repeat_1	50	85	7.34e-5	PROSPERO
low complexity region	91	106	N/A	INTRINSIC
low complexity region	112	132	N/A	INTRINSIC
low complexity region	141	204	N/A	INTRINSIC
internal_repeat_1	222	255	7.34e-5	PROSPERO

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

99% (68/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,545,219 (GRCm39)	I78T	probably benign	Het
Afg3l1	A	T	8: 124,219,665 (GRCm39)	I398F	probably damaging	Het
Ahctf1	T	C	1: 179,591,048 (GRCm39)	H1244R	probably benign	Het
Ank1	A	T	8: 23,599,687 (GRCm39)	K797N	probably damaging	Het
Anxa6	G	T	11: 54,877,903 (GRCm39)		probably null	Het
Aoc1l1	T	A	6: 48,954,616 (GRCm39)	Y585N	probably benign	Het
Ap1b1	T	A	11: 4,969,493 (GRCm39)	V310E	probably damaging	Het
C2cd2l	T	C	9: 44,228,963 (GRCm39)	I123V	probably damaging	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,874,771 (GRCm39)	I542F	probably damaging	Het
Cfap57	G	T	4: 118,426,648 (GRCm39)	Y1100*	probably null	Het
Coq9	A	G	8: 95,576,862 (GRCm39)	E158G	probably benign	Het
Cox15	A	T	19: 43,728,365 (GRCm39)	W303R	possibly damaging	Het
Cpa5	A	G	6: 30,615,172 (GRCm39)	Y103C	probably damaging	Het
Crygn	A	T	5: 24,961,189 (GRCm39)	V39E	probably damaging	Het
Csf1	G	T	3: 107,654,473 (GRCm39)	S132R	possibly damaging	Het
Dapk1	G	A	13: 60,909,580 (GRCm39)	V1398M	possibly damaging	Het
Degs2	C	A	12: 108,658,839 (GRCm39)	V47L	probably damaging	Het
Dock5	C	A	14: 68,027,724 (GRCm39)	E1057*	probably null	Het
Dsg1b	C	A	18: 20,521,220 (GRCm39)	Q26K	probably benign	Het
Elp1	T	C	4: 56,762,305 (GRCm39)	Y1098C	probably damaging	Het
Fam181a	T	C	12: 103,282,803 (GRCm39)	V236A	possibly damaging	Het
Fam78b	C	A	1: 166,906,122 (GRCm39)	P94T	probably damaging	Het
Fbxw25	T	G	9: 109,483,718 (GRCm39)	T165P	probably damaging	Het
Frrs1	G	T	3: 116,696,748 (GRCm39)	V573F	probably damaging	Het
Gm7298	A	G	6: 121,756,032 (GRCm39)	T964A	possibly damaging	Het
Hoxd9	G	T	2: 74,528,433 (GRCm39)	V12L	probably damaging	Het
Kcnt1	A	G	2: 25,793,609 (GRCm39)		probably null	Het
Klhl3	G	T	13: 58,161,656 (GRCm39)	R480S	probably damaging	Het
Klhl36	A	G	8: 120,597,406 (GRCm39)	D369G	probably damaging	Het
Lama3	T	A	18: 12,657,794 (GRCm39)	N303K	probably damaging	Het
Lhcgr	T	C	17: 89,050,132 (GRCm39)	T465A	probably damaging	Het
Llgl1	T	C	11: 60,602,989 (GRCm39)	V888A	probably benign	Het
Lrp1b	T	A	2: 40,711,729 (GRCm39)	T3164S	probably benign	Het
Mmp3	T	G	9: 7,447,622 (GRCm39)	D202E	possibly damaging	Het
Mocs1	C	A	17: 49,742,183 (GRCm39)	T104K	probably damaging	Het
Mrpl42	A	T	10: 95,332,569 (GRCm39)		probably null	Het
Mtch2	T	C	2: 90,693,992 (GRCm39)	C279R	probably benign	Het
Muc4	A	T	16: 32,589,141 (GRCm39)	D2836V	probably damaging	Het
Myh7	T	C	14: 55,226,741 (GRCm39)	E370G	probably benign	Het
Naa11	A	G	5: 97,540,069 (GRCm39)	Y30H	probably damaging	Het
Ntng1	T	C	3: 109,842,351 (GRCm39)	T141A	probably damaging	Het
Or5h26	A	C	16: 58,987,656 (GRCm39)		probably null	Het
Or8c11	T	C	9: 38,289,384 (GRCm39)	I69T	probably benign	Het
Or9i14	A	T	19: 13,792,671 (GRCm39)	Y94*	probably null	Het
Pcdha12	G	A	18: 37,155,477 (GRCm39)	C732Y	possibly damaging	Het
Plekhm2	G	A	4: 141,359,652 (GRCm39)	Q392*	probably null	Het
Prr22	G	A	17: 57,078,587 (GRCm39)	V247M	probably damaging	Het
Rapgef6	T	A	11: 54,540,073 (GRCm39)	L716Q	probably damaging	Het
Rasgrp4	G	A	7: 28,842,493 (GRCm39)	V246I	probably damaging	Het
Rhbdd2	C	T	5: 135,672,114 (GRCm39)	T323I	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Scgb2b20	A	T	7: 33,063,973 (GRCm39)	I99K	possibly damaging	Het
Scyl3	C	T	1: 163,773,786 (GRCm39)	R324*	probably null	Het
Slc23a1	T	C	18: 35,752,624 (GRCm39)	Y551C	probably damaging	Het
Slc5a5	A	T	8: 71,341,264 (GRCm39)	S358R	probably damaging	Het
Sorcs3	T	A	19: 48,778,605 (GRCm39)	N1007K	probably damaging	Het
Stxbp4	T	A	11: 90,431,027 (GRCm39)	K428*	probably null	Het
Tmem63c	T	A	12: 87,128,727 (GRCm39)	I584N	probably damaging	Het
Traf3ip3	C	T	1: 192,880,344 (GRCm39)		probably benign	Het
Trgv2	G	A	13: 19,521,001 (GRCm39)	T31I	probably benign	Het
Ttll3	C	T	6: 113,369,524 (GRCm39)	R23C	probably benign	Het
Ugt2a3	A	C	5: 87,477,472 (GRCm39)	L309R	probably damaging	Het
Urb1	A	G	16: 90,550,807 (GRCm39)	M2015T	probably benign	Het
Vmn2r14	A	C	5: 109,369,283 (GRCm39)	S97A	possibly damaging	Het
Vps13c	C	A	9: 67,858,731 (GRCm39)	T2727K	probably benign	Het
Xrn1	T	A	9: 95,846,067 (GRCm39)	I40K	probably damaging	Het
Zc3h11a	A	G	1: 133,552,295 (GRCm39)	V604A	probably benign	Het
Zfp410	G	A	12: 84,378,612 (GRCm39)	R259H	probably benign	Het
Zfp748	A	G	13: 67,690,705 (GRCm39)	V185A	possibly damaging	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
R2213:Flg	UTSW	3	93,200,335 (GRCm39)	unclassified	probably benign
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
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'- CAGTCCTCATCTGCCAACAG -3'
(R):5'- TCCAGAATGGACATGGCTG -3'

Sequencing Primer
(F):5'- TCGTCAGCTGACAGGCAAG -3'
(R):5'- ACATGGCTGTCACTGGACTG -3'

Posted On

2018-03-15