Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01663:Fbll1'

103231

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbll1

Ensembl Gene

ENSMUSG00000051062

Gene Name

fibrillarin-like 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

IGL01663

Quality Score

Status

Chromosome

Chromosomal Location

35688209-35689711 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35688648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 205 (I205T)

Ref Sequence

ENSEMBL: ENSMUSP00000128889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160726]

AlphaFold

Q80WS3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120504

Predicted Effect

probably damaging
Transcript: ENSMUST00000160726
AA Change: I205T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128889
Gene: ENSMUSG00000051062
AA Change: I205T

Domain	Start	End	E-Value	Type
low complexity region	5	77	N/A	INTRINSIC
Fibrillarin	82	309	1.21e-170	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,168,628 (GRCm39)	I1085V	possibly damaging	Het
Adamts16	T	C	13: 70,941,260 (GRCm39)	T376A	probably benign	Het
Aifm3	T	A	16: 17,320,650 (GRCm39)		probably null	Het
Ankrd16	A	G	2: 11,783,473 (GRCm39)	E25G	probably damaging	Het
Ano6	T	A	15: 95,865,495 (GRCm39)		probably null	Het
Cdh18	T	C	15: 23,446,077 (GRCm39)	I509T	possibly damaging	Het
Cdon	A	G	9: 35,394,510 (GRCm39)	T919A	possibly damaging	Het
Clca3a2	G	A	3: 144,522,916 (GRCm39)	P148L	probably damaging	Het
Dnph1	G	T	17: 46,809,408 (GRCm39)	R74L	probably benign	Het
Epha6	C	T	16: 59,596,007 (GRCm39)	A895T	probably damaging	Het
Exoc3l4	T	A	12: 111,395,845 (GRCm39)		probably benign	Het
Frem2	T	A	3: 53,424,434 (GRCm39)	H3001L	probably damaging	Het
Galk2	A	G	2: 125,825,099 (GRCm39)	N432D	probably benign	Het
Gm7535	A	C	17: 18,131,619 (GRCm39)		probably benign	Het
Il10	A	G	1: 130,949,151 (GRCm39)	E104G	probably benign	Het
Il1a	T	C	2: 129,146,637 (GRCm39)	K152R	probably benign	Het
Kdm1b	T	A	13: 47,227,213 (GRCm39)	N568K	probably damaging	Het
Kmt2c	A	C	5: 25,515,668 (GRCm39)	L2725R	probably damaging	Het
Krba1	G	T	6: 48,388,688 (GRCm39)	L527F	probably damaging	Het
Lrp2	A	G	2: 69,259,050 (GRCm39)	S4547P	probably benign	Het
Nin	G	T	12: 70,090,439 (GRCm39)	A992E	possibly damaging	Het
Or11g7	G	A	14: 50,690,607 (GRCm39)	V33M	probably benign	Het
Or5p81	T	A	7: 108,267,098 (GRCm39)	H158Q	probably benign	Het
Pcdhb1	A	G	18: 37,400,186 (GRCm39)	I712M	possibly damaging	Het
Prmt2	C	T	10: 76,053,143 (GRCm39)		probably null	Het
Rbm20	T	G	19: 53,829,426 (GRCm39)	V608G	probably damaging	Het
Smarcc2	C	T	10: 128,324,846 (GRCm39)		probably benign	Het
Speer3	A	T	5: 13,843,236 (GRCm39)	R48*	probably null	Het
Tlr1	A	T	5: 65,082,416 (GRCm39)	N720K	possibly damaging	Het
Tnfrsf21	A	T	17: 43,398,702 (GRCm39)	M603L	probably benign	Het
Ttc3	T	A	16: 94,210,590 (GRCm39)		probably null	Het
Usp4	C	A	9: 108,243,079 (GRCm39)	A249E	possibly damaging	Het
Wdr20	T	A	12: 110,759,948 (GRCm39)	V278E	probably damaging	Het

Other mutations in Fbll1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Fbll1	APN	11	35,688,874 (GRCm39)	missense	probably benign	0.00
IGL01559:Fbll1	APN	11	35,688,372 (GRCm39)	missense	probably damaging	1.00
IGL01799:Fbll1	APN	11	35,688,936 (GRCm39)	missense	possibly damaging	0.71
IGL01988:Fbll1	APN	11	35,688,728 (GRCm39)	missense	probably benign
R0088:Fbll1	UTSW	11	35,688,967 (GRCm39)	missense	possibly damaging	0.72
R3087:Fbll1	UTSW	11	35,689,017 (GRCm39)	missense	probably damaging	1.00
R3738:Fbll1	UTSW	11	35,688,505 (GRCm39)	missense	possibly damaging	0.88
R3739:Fbll1	UTSW	11	35,688,505 (GRCm39)	missense	possibly damaging	0.88
R3854:Fbll1	UTSW	11	35,688,526 (GRCm39)	missense	probably benign	0.01
R3935:Fbll1	UTSW	11	35,688,475 (GRCm39)	missense	probably damaging	1.00
R4034:Fbll1	UTSW	11	35,688,505 (GRCm39)	missense	possibly damaging	0.88
R4195:Fbll1	UTSW	11	35,688,699 (GRCm39)	missense	possibly damaging	0.75
R4195:Fbll1	UTSW	11	35,688,493 (GRCm39)	missense	possibly damaging	0.93
R4196:Fbll1	UTSW	11	35,688,699 (GRCm39)	missense	possibly damaging	0.75
R4824:Fbll1	UTSW	11	35,688,652 (GRCm39)	missense	probably damaging	1.00
R4923:Fbll1	UTSW	11	35,688,407 (GRCm39)	missense	probably benign	0.02
R5669:Fbll1	UTSW	11	35,688,411 (GRCm39)	missense	probably benign	0.09
R5909:Fbll1	UTSW	11	35,689,159 (GRCm39)	missense	unknown
R6265:Fbll1	UTSW	11	35,688,636 (GRCm39)	missense	probably damaging	0.98
R7934:Fbll1	UTSW	11	35,689,048 (GRCm39)	missense	unknown
R8078:Fbll1	UTSW	11	35,688,728 (GRCm39)	missense	probably benign
R8499:Fbll1	UTSW	11	35,688,907 (GRCm39)	missense	probably damaging	1.00
R8819:Fbll1	UTSW	11	35,688,802 (GRCm39)	missense	probably benign	0.09

Posted On

2014-01-21