Mutagenetix > Incidental Mutation

Incidental Mutation 'R7248:Flg'

563667

Institutional Source

Beutler Lab

Gene Symbol

Flg

Ensembl Gene

ENSMUSG00000102439

Gene Name

filaggrin

Synonyms

profilaggrin, ft, fillagrin

MMRRC Submission

045311-MU

Accession Numbers

Essential gene?

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

Stock #

R7248 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93180853-93200996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93189041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 137 (V137A)

Ref Sequence

ENSEMBL: ENSMUSP00000141981 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178008] [ENSMUST00000178695] [ENSMUST00000178752] [ENSMUST00000179477] [ENSMUST00000180308]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000178008
AA Change: V137A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000141981
Gene: ENSMUSG00000102439
AA Change: V137A

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: 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: ENSMUST00000180308

SMART Domains

Protein: ENSMUSP00000142003
Gene: ENSMUSG00000102439

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

97% (75/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,207,959 (GRCm39)		probably null	Het
Aldh16a1	A	G	7: 44,795,018 (GRCm39)	Y484H	probably damaging	Het
Arhgap26	T	C	18: 39,439,907 (GRCm39)		probably null	Het
Atxn7l1	A	G	12: 33,417,194 (GRCm39)	T452A	probably benign	Het
Baz1a	C	T	12: 54,947,293 (GRCm39)	E1119K	probably damaging	Het
Btaf1	A	T	19: 36,922,714 (GRCm39)	E39D	possibly damaging	Het
Bud13	G	T	9: 46,194,413 (GRCm39)	E29*	probably null	Het
Ccdc150	C	T	1: 54,344,057 (GRCm39)	T530I	probably benign	Het
Chd6	G	A	2: 160,803,199 (GRCm39)	Q2160*	probably null	Het
Cluap1	T	A	16: 3,737,364 (GRCm39)	I172N	possibly damaging	Het
Cnot2	T	C	10: 116,334,278 (GRCm39)	N329S	probably benign	Het
Cog4	A	T	8: 111,608,834 (GRCm39)	T175S	unknown	Het
Coq7	C	A	7: 118,128,897 (GRCm39)	R46L	probably benign	Het
D630045J12Rik	A	T	6: 38,145,198 (GRCm39)	V1276E	probably damaging	Het
Dcaf15	A	G	8: 84,829,394 (GRCm39)	V116A	possibly damaging	Het
Ddr2	C	T	1: 169,822,198 (GRCm39)	V417I	probably benign	Het
Defa25	G	A	8: 21,575,216 (GRCm39)	C65Y	probably damaging	Het
Dhx38	T	C	8: 110,285,559 (GRCm39)	T425A	probably benign	Het
Diaph1	T	C	18: 38,022,829 (GRCm39)	T782A	probably benign	Het
Dnah7b	T	A	1: 46,181,245 (GRCm39)	M1044K	possibly damaging	Het
Dusp16	G	A	6: 134,695,940 (GRCm39)	T297M	probably benign	Het
Esyt2	A	G	12: 116,305,858 (GRCm39)	N363D	probably damaging	Het
Fasl	C	T	1: 161,615,760 (GRCm39)	C32Y	possibly damaging	Het
Gm57858	T	A	3: 36,080,086 (GRCm39)	T224S	probably benign	Het
Gpr150	G	A	13: 76,204,126 (GRCm39)	A273V	probably benign	Het
Grk5	A	G	19: 60,879,045 (GRCm39)	T10A	probably benign	Het
Hivep2	A	G	10: 14,006,909 (GRCm39)	K1169R	possibly damaging	Het
Ido2	A	C	8: 25,030,657 (GRCm39)	Y224*	probably null	Het
Ido2	A	G	8: 25,038,839 (GRCm39)	I149T	probably damaging	Het
Iqca1l	C	T	5: 24,749,269 (GRCm39)	S743N	probably benign	Het
Kctd2	A	G	11: 115,312,845 (GRCm39)	T126A	possibly damaging	Het
Khdc4	T	C	3: 88,600,886 (GRCm39)	S228P	probably damaging	Het
Kif1a	T	C	1: 92,969,305 (GRCm39)	D1090G	probably benign	Het
Klrb1a	A	T	6: 128,586,697 (GRCm39)	H222Q	possibly damaging	Het
Kndc1	A	C	7: 139,500,699 (GRCm39)	H688P	probably damaging	Het
Lrriq1	C	A	10: 103,059,611 (GRCm39)	V141F	possibly damaging	Het
Malrd1	A	G	2: 16,106,722 (GRCm39)	I1845V	unknown	Het
Mob3c	G	A	4: 115,688,881 (GRCm39)	R138H	probably benign	Het
Mre11a	T	A	9: 14,723,209 (GRCm39)	D394E	possibly damaging	Het
Myh7b	A	T	2: 155,464,106 (GRCm39)	I536F	probably damaging	Het
Nacad	T	A	11: 6,548,589 (GRCm39)	K1382*	probably null	Het
Ncor1	T	C	11: 62,275,598 (GRCm39)	K128R	possibly damaging	Het
Or10am5	T	C	7: 6,517,520 (GRCm39)	N303D	probably damaging	Het
Ostn	T	A	16: 27,165,719 (GRCm39)		probably null	Het
Pacs1	G	A	19: 5,189,003 (GRCm39)	T793I	probably damaging	Het
Pcdhb2	T	C	18: 37,429,547 (GRCm39)	S507P	probably damaging	Het
Pde2a	A	G	7: 101,152,597 (GRCm39)	K393E	possibly damaging	Het
Pfkl	T	A	10: 77,825,423 (GRCm39)	N656Y	probably damaging	Het
Phf20	T	A	2: 156,135,331 (GRCm39)		probably null	Het
Plekha6	G	T	1: 133,203,586 (GRCm39)	E550*	probably null	Het
Plxna4	A	T	6: 32,139,095 (GRCm39)	V1691E	probably damaging	Het
Rag1	A	T	2: 101,472,123 (GRCm39)	H1006Q	probably damaging	Het
Rfx4	C	T	10: 84,740,919 (GRCm39)	P679L	probably benign	Het
Ripor2	A	G	13: 24,878,128 (GRCm39)	H301R	probably damaging	Het
Rrp12	A	T	19: 41,871,877 (GRCm39)	I469N	possibly damaging	Het
Serpinb6b	A	G	13: 33,161,559 (GRCm39)	T211A	probably benign	Het
Sf1	A	T	19: 6,426,383 (GRCm39)	H547L	unknown	Het
Slc29a1	T	C	17: 45,903,108 (GRCm39)	D9G	probably damaging	Het
Sptan1	T	A	2: 29,892,311 (GRCm39)	M1075K	probably benign	Het
Syngap1	A	G	17: 27,176,741 (GRCm39)	D474G	probably damaging	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Timeless	A	G	10: 128,087,870 (GRCm39)	T1148A	probably benign	Het
Tmem116	A	T	5: 121,601,899 (GRCm39)		probably null	Het
Tmem158	A	T	9: 123,089,390 (GRCm39)	I74N	probably damaging	Het
Traf5	T	A	1: 191,743,432 (GRCm39)	D174V	probably benign	Het
Trim65	A	T	11: 116,018,534 (GRCm39)	I247N	probably benign	Het
Tsfm	A	T	10: 126,847,500 (GRCm39)	V197E	probably benign	Het
Utrn	A	G	10: 12,604,562 (GRCm39)	C539R	possibly damaging	Het
Vps13a	A	T	19: 16,655,406 (GRCm39)	F1874Y	probably benign	Het
Wdr6	A	G	9: 108,453,238 (GRCm39)	M215T	possibly damaging	Het
Wdr75	T	A	1: 45,856,560 (GRCm39)	W528R	probably damaging	Het
Zc3h7b	A	G	15: 81,655,988 (GRCm39)	D112G	possibly damaging	Het
Zc3hav1	C	T	6: 38,330,911 (GRCm39)	D83N	probably benign	Het
Zfp369	T	A	13: 65,443,931 (GRCm39)	V358E	probably damaging	Het
Zfp946	T	A	17: 22,672,489 (GRCm39)	C29*	probably null	Het
Zng1	A	G	19: 24,898,505 (GRCm39)	S318P	probably 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
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
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'- GGCTCTAACCAAGGACACAG -3'
(R):5'- TCATAGTAGTATCCGGAGCCGTG -3'

Sequencing Primer
(F):5'- AGGACACAGCTCCTCTCG -3'
(R):5'- TACTGCCTGGCCTTCTGAGAAG -3'

Posted On

2019-06-26