Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4618001:Flg2'

555681

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

PIT4618001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93203781 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 1039 (S1039C)

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: S1039C

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: S1039C

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

Coding Region Coverage

1x: 93.4%
3x: 91.0%
10x: 85.9%
20x: 75.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,545,709 (GRCm38)	D64V	probably damaging	Het
Ankdd1a	A	C	9: 65,507,650 (GRCm38)	I268S	possibly damaging	Het
Atad3a	C	T	4: 155,750,138 (GRCm38)	R402Q	probably benign	Het
C3ar1	A	G	6: 122,850,787 (GRCm38)	V157A	probably benign	Het
Cd55	C	T	1: 130,456,869 (GRCm38)	V206I	probably benign	Het
Cd8a	A	G	6: 71,373,677 (GRCm38)	D42G	possibly damaging	Het
Cemip	G	T	7: 83,943,939 (GRCm38)	F1185L	probably benign	Het
Cfap58	A	G	19: 47,975,514 (GRCm38)	D527G	probably damaging	Het
Cyp2a12	C	A	7: 27,034,773 (GRCm38)	S377Y	probably benign	Het
Dapk2	A	G	9: 66,268,686 (GRCm38)	D289G	probably benign	Het
Efcab6	G	A	15: 83,983,446 (GRCm38)	A277V	probably benign	Het
Ephx2	A	T	14: 66,102,222 (GRCm38)	F250L	probably damaging	Het
Gm609	A	G	16: 45,443,934 (GRCm38)	F87S	probably benign	Het
Gramd1a	A	G	7: 31,132,596 (GRCm38)	V674A	probably benign	Het
Gtf2a1	A	C	12: 91,567,769 (GRCm38)	V237G	probably benign	Het
I830077J02Rik	G	A	3: 105,926,570 (GRCm38)	T90M	probably damaging	Het
Jagn1	T	A	6: 113,447,437 (GRCm38)	L90H	probably damaging	Het
Mdn1	G	T	4: 32,746,527 (GRCm38)	A4158S	probably benign	Het
Myh11	G	A	16: 14,201,066 (GRCm38)	A1839V		Het
Olr1	G	A	6: 129,499,906 (GRCm38)	A132V	probably damaging	Het
Paqr3	A	T	5: 97,103,471 (GRCm38)	H131Q	possibly damaging	Het
Pde4b	A	T	4: 102,602,812 (GRCm38)	T397S	probably benign	Het
Pon1	A	G	6: 5,168,349 (GRCm38)	C353R	probably damaging	Het
Ppie	G	A	4: 123,138,868 (GRCm38)	T43I	probably null	Het
Prr5l	A	G	2: 101,758,530 (GRCm38)	F92L	probably damaging	Het
Rai14	T	C	15: 10,575,156 (GRCm38)	Y601C	probably damaging	Het
Rasal1	A	G	5: 120,670,376 (GRCm38)	D491G	probably damaging	Het
Rbm12b1	T	A	4: 12,145,441 (GRCm38)	V471E	probably damaging	Het
Rpusd2	T	C	2: 119,038,452 (GRCm38)	L452P	possibly damaging	Het
Scgb2b24	A	T	7: 33,738,611 (GRCm38)	C24S	probably damaging	Het
Slc17a5	C	T	9: 78,538,248 (GRCm38)	V468M	possibly damaging	Het
Tcp10c	A	G	17: 13,356,510 (GRCm38)	K117R	possibly damaging	Het
Ubash3b	A	G	9: 41,016,627 (GRCm38)	S584P	probably benign	Het
Vps13b	C	T	15: 35,709,240 (GRCm38)	R1778C	probably damaging	Het
Ythdc2	A	G	18: 44,834,598 (GRCm38)	I220M	probably benign	Het
Zfp474	C	A	18: 52,638,404 (GRCm38)	T43K	probably damaging	Het
Zscan4-ps3	G	A	7: 11,613,334 (GRCm38)	M432I	probably benign	Het

Other mutations in Flg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Flg2	APN	3	93,202,109 (GRCm38)	nonsense	probably null
IGL00092:Flg2	APN	3	93,219,855 (GRCm38)	missense	possibly damaging	0.90
IGL00985:Flg2	APN	3	93,203,278 (GRCm38)	missense	unknown
IGL01077:Flg2	APN	3	93,220,206 (GRCm38)	missense	unknown
IGL01093:Flg2	APN	3	93,202,371 (GRCm38)	missense	unknown
IGL01120:Flg2	APN	3	93,201,168 (GRCm38)	missense	probably damaging	0.99
IGL01473:Flg2	APN	3	93,203,020 (GRCm38)	missense	unknown
IGL01584:Flg2	APN	3	93,215,470 (GRCm38)	missense	unknown
IGL01584:Flg2	APN	3	93,213,466 (GRCm38)	missense	unknown
IGL01686:Flg2	APN	3	93,202,284 (GRCm38)	missense	unknown
IGL02207:Flg2	APN	3	93,220,128 (GRCm38)	missense	unknown
IGL02294:Flg2	APN	3	93,203,746 (GRCm38)	missense	unknown
IGL02418:Flg2	APN	3	93,201,054 (GRCm38)	missense	probably benign	0.26
IGL02581:Flg2	APN	3	93,219,892 (GRCm38)	missense	unknown
IGL02719:Flg2	APN	3	93,220,131 (GRCm38)	nonsense	probably null
IGL02795:Flg2	APN	3	93,203,613 (GRCm38)	missense	unknown
IGL02893:Flg2	APN	3	93,203,613 (GRCm38)	missense	unknown
IGL02958:Flg2	APN	3	93,203,613 (GRCm38)	missense	unknown
IGL03060:Flg2	APN	3	93,203,613 (GRCm38)	missense	unknown
IGL03088:Flg2	APN	3	93,203,191 (GRCm38)	missense	unknown
IGL03165:Flg2	APN	3	93,214,611 (GRCm38)	missense	unknown
IGL03342:Flg2	APN	3	93,201,235 (GRCm38)	missense	probably damaging	1.00
IGL03352:Flg2	APN	3	93,202,494 (GRCm38)	missense	unknown
IGL02796:Flg2	UTSW	3	93,203,613 (GRCm38)	missense	unknown
IGL02837:Flg2	UTSW	3	93,201,737 (GRCm38)	missense	probably damaging	1.00
R0087:Flg2	UTSW	3	93,202,431 (GRCm38)	missense	unknown
R0233:Flg2	UTSW	3	93,201,797 (GRCm38)	nonsense	probably null
R0233:Flg2	UTSW	3	93,201,797 (GRCm38)	nonsense	probably null
R0315:Flg2	UTSW	3	93,214,722 (GRCm38)	missense	unknown
R0390:Flg2	UTSW	3	93,200,355 (GRCm38)	splice site	probably benign
R0462:Flg2	UTSW	3	93,201,437 (GRCm38)	missense	probably benign	0.18
R0553:Flg2	UTSW	3	93,203,584 (GRCm38)	missense	unknown
R0828:Flg2	UTSW	3	93,203,332 (GRCm38)	missense	unknown
R1006:Flg2	UTSW	3	93,201,207 (GRCm38)	missense	probably benign	0.41
R1444:Flg2	UTSW	3	93,202,313 (GRCm38)	missense	unknown
R1497:Flg2	UTSW	3	93,219,769 (GRCm38)	missense	unknown
R1518:Flg2	UTSW	3	93,203,138 (GRCm38)	missense	unknown
R1737:Flg2	UTSW	3	93,203,621 (GRCm38)	missense	unknown
R1780:Flg2	UTSW	3	93,202,999 (GRCm38)	missense	unknown
R1797:Flg2	UTSW	3	93,200,976 (GRCm38)	missense	probably damaging	1.00
R2065:Flg2	UTSW	3	93,202,231 (GRCm38)	missense	unknown
R2168:Flg2	UTSW	3	93,201,937 (GRCm38)	missense	probably damaging	1.00
R2220:Flg2	UTSW	3	93,202,185 (GRCm38)	missense	unknown
R2292:Flg2	UTSW	3	93,220,677 (GRCm38)	missense	unknown
R2327:Flg2	UTSW	3	93,203,606 (GRCm38)	nonsense	probably null
R2512:Flg2	UTSW	3	93,201,775 (GRCm38)	missense	probably damaging	1.00
R3177:Flg2	UTSW	3	93,214,888 (GRCm38)	missense	unknown
R3277:Flg2	UTSW	3	93,214,888 (GRCm38)	missense	unknown
R3522:Flg2	UTSW	3	93,220,027 (GRCm38)	missense	unknown
R3779:Flg2	UTSW	3	93,202,423 (GRCm38)	missense	unknown
R3926:Flg2	UTSW	3	93,203,215 (GRCm38)	missense	unknown
R4082:Flg2	UTSW	3	93,203,521 (GRCm38)	missense	unknown
R4407:Flg2	UTSW	3	93,214,869 (GRCm38)	missense	unknown
R5152:Flg2	UTSW	3	93,214,977 (GRCm38)	missense	unknown
R5253:Flg2	UTSW	3	93,200,812 (GRCm38)	missense	probably damaging	1.00
R5290:Flg2	UTSW	3	93,220,566 (GRCm38)	missense	unknown
R5464:Flg2	UTSW	3	93,201,970 (GRCm38)	missense	possibly damaging	0.73
R5539:Flg2	UTSW	3	93,220,446 (GRCm38)	missense	unknown
R5622:Flg2	UTSW	3	93,202,564 (GRCm38)	missense	unknown
R5788:Flg2	UTSW	3	93,200,989 (GRCm38)	missense	probably benign	0.41
R5792:Flg2	UTSW	3	93,203,497 (GRCm38)	missense	unknown
R5831:Flg2	UTSW	3	93,200,234 (GRCm38)	missense	probably damaging	1.00
R5877:Flg2	UTSW	3	93,203,449 (GRCm38)	missense	unknown
R6041:Flg2	UTSW	3	93,220,361 (GRCm38)	missense	probably benign	0.01
R6189:Flg2	UTSW	3	93,220,074 (GRCm38)	missense	unknown
R6214:Flg2	UTSW	3	93,201,859 (GRCm38)	missense	possibly damaging	0.83
R6215:Flg2	UTSW	3	93,201,859 (GRCm38)	missense	possibly damaging	0.83
R6239:Flg2	UTSW	3	93,201,272 (GRCm38)	missense	probably benign	0.36
R6288:Flg2	UTSW	3	93,203,785 (GRCm38)	missense	unknown
R6413:Flg2	UTSW	3	93,220,376 (GRCm38)	missense	unknown
R6457:Flg2	UTSW	3	93,220,482 (GRCm38)	missense	unknown
R6468:Flg2	UTSW	3	93,214,421 (GRCm38)	missense	unknown
R6667:Flg2	UTSW	3	93,201,761 (GRCm38)	missense	possibly damaging	0.88
R6930:Flg2	UTSW	3	93,201,335 (GRCm38)	nonsense	probably null
R6996:Flg2	UTSW	3	93,202,949 (GRCm38)	missense	unknown
R6996:Flg2	UTSW	3	93,202,670 (GRCm38)	missense	unknown
R7100:Flg2	UTSW	3	93,203,711 (GRCm38)	missense	unknown
R7133:Flg2	UTSW	3	93,219,762 (GRCm38)	missense	unknown
R7180:Flg2	UTSW	3	93,202,833 (GRCm38)	missense	unknown
R7325:Flg2	UTSW	3	93,203,372 (GRCm38)	missense	unknown
R7349:Flg2	UTSW	3	93,220,206 (GRCm38)	missense	unknown
R7531:Flg2	UTSW	3	93,200,870 (GRCm38)	missense	probably damaging	0.99
R7571:Flg2	UTSW	3	93,219,996 (GRCm38)	nonsense	probably null
R7684:Flg2	UTSW	3	93,219,649 (GRCm38)	missense	unknown
R7810:Flg2	UTSW	3	93,200,241 (GRCm38)	missense	possibly damaging	0.70
R7853:Flg2	UTSW	3	93,220,747 (GRCm38)	missense	unknown
R8031:Flg2	UTSW	3	93,220,214 (GRCm38)	missense	unknown
R8078:Flg2	UTSW	3	93,200,275 (GRCm38)	missense	probably damaging	1.00
R8142:Flg2	UTSW	3	93,215,475 (GRCm38)	nonsense	probably null
R8156:Flg2	UTSW	3	93,220,083 (GRCm38)	missense	unknown
R8172:Flg2	UTSW	3	93,201,161 (GRCm38)	missense	possibly damaging	0.94
R8204:Flg2	UTSW	3	93,202,767 (GRCm38)	missense	unknown
R8262:Flg2	UTSW	3	93,220,210 (GRCm38)	missense	unknown
R8269:Flg2	UTSW	3	93,201,880 (GRCm38)	missense	possibly damaging	0.68
R8290:Flg2	UTSW	3	93,202,762 (GRCm38)	missense	unknown
R8444:Flg2	UTSW	3	93,200,278 (GRCm38)	missense	probably damaging	0.97
R8670:Flg2	UTSW	3	93,201,484 (GRCm38)	missense	probably damaging	0.97
R8755:Flg2	UTSW	3	93,200,813 (GRCm38)	missense	probably damaging	1.00
R9039:Flg2	UTSW	3	93,203,592 (GRCm38)	missense	unknown
R9116:Flg2	UTSW	3	93,202,284 (GRCm38)	missense	unknown
R9214:Flg2	UTSW	3	93,203,577 (GRCm38)	missense	unknown
R9231:Flg2	UTSW	3	93,202,201 (GRCm38)	missense	unknown
R9553:Flg2	UTSW	3	93,214,594 (GRCm38)	missense	unknown
R9607:Flg2	UTSW	3	93,201,412 (GRCm38)	missense	probably damaging	0.98
R9735:Flg2	UTSW	3	93,220,362 (GRCm38)	missense	unknown
R9752:Flg2	UTSW	3	93,201,160 (GRCm38)	missense	probably damaging	0.98
Z1177:Flg2	UTSW	3	93,202,738 (GRCm38)	missense	unknown
Z1177:Flg2	UTSW	3	93,202,420 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATATGGTCACGGTCAGGGTCAG -3'
(R):5'- GACTGGTGATCTCCTTGGAG -3'

Sequencing Primer
(F):5'- TCAGGGTCAGGCAGGACATC -3'
(R):5'- ATCTCCTTGGAGATCTGCCAGAG -3'

Posted On

2019-06-07