Mutagenetix > Incidental Mutation

Incidental Mutation 'R3739:Fbll1'

270299

Institutional Source

Beutler Lab

Gene Symbol

Fbll1

Ensembl Gene

ENSMUSG00000051062

Gene Name

fibrillarin-like 1

Synonyms

MMRRC Submission

040725-MU

Accession Numbers

Essential gene?

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

Stock #

R3739 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35688209-35689711 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35688505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 253 (H253Y)

Ref Sequence

ENSEMBL: ENSMUSP00000128889 (fasta)

Gene Model

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

AlphaFold

Q80WS3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120504

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160726
AA Change: H253Y

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128889
Gene: ENSMUSG00000051062
AA Change: H253Y

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

Meta Mutation Damage Score

0.0583

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	A	T	11: 48,910,108 (GRCm39)	L775*	probably null	Het
Abcb8	A	G	5: 24,605,619 (GRCm39)	S168G	probably benign	Het
Ahnak2	T	C	12: 112,740,992 (GRCm39)	I1027V	probably benign	Het
Alox12e	A	G	11: 70,210,668 (GRCm39)	L318P	probably damaging	Het
Ankrd11	A	G	8: 123,623,454 (GRCm39)		probably benign	Het
Anks1b	T	A	10: 89,869,078 (GRCm39)	I46N	probably damaging	Het
Apoa5	G	C	9: 46,180,415 (GRCm39)	W7S	probably damaging	Het
Arnt2	T	C	7: 83,993,009 (GRCm39)	H177R	probably null	Het
Cacna1c	T	C	6: 118,718,913 (GRCm39)	D220G	probably benign	Het
Dst	C	T	1: 34,307,975 (GRCm39)		probably benign	Het
Eml6	C	A	11: 29,753,137 (GRCm39)	V925L	probably benign	Het
Galnt1	A	G	18: 24,404,712 (GRCm39)	T350A	probably benign	Het
Gbp10	T	A	5: 105,372,324 (GRCm39)	E145D	possibly damaging	Het
Gfm1	T	C	3: 67,364,033 (GRCm39)	I503T	probably damaging	Het
Hmcn2	A	T	2: 31,226,624 (GRCm39)	K200*	probably null	Het
Ifi203	T	A	1: 173,757,040 (GRCm39)		probably benign	Het
Itgbl1	T	C	14: 124,204,090 (GRCm39)	F394L	probably damaging	Het
Itpkc	T	A	7: 26,927,029 (GRCm39)	D295V	possibly damaging	Het
Klra17	T	A	6: 129,850,328 (GRCm39)	I41F	probably benign	Het
Lcorl	A	T	5: 45,891,383 (GRCm39)	N323K	possibly damaging	Het
Ltbp2	A	T	12: 84,851,248 (GRCm39)	C836S	probably damaging	Het
Mfsd2b	A	G	12: 4,920,578 (GRCm39)	S80P	probably damaging	Het
Ms4a18	A	T	19: 10,988,863 (GRCm39)	H164Q	probably damaging	Het
Mybbp1a	A	G	11: 72,339,563 (GRCm39)	H882R	possibly damaging	Het
Myh9	G	A	15: 77,651,012 (GRCm39)	R1612C	probably damaging	Het
Myo18a	A	G	11: 77,736,441 (GRCm39)	D1514G	probably damaging	Het
Nsun2	T	C	13: 69,777,757 (GRCm39)	I441T	probably benign	Het
Ntng1	A	T	3: 109,842,007 (GRCm39)	D255E	probably damaging	Het
Or2y1	A	G	11: 49,386,287 (GRCm39)	D309G	possibly damaging	Het
Osbpl2	G	A	2: 179,803,353 (GRCm39)	R475H	probably damaging	Het
Pclo	A	C	5: 14,730,913 (GRCm39)	K3138N	unknown	Het
Pcsk7	A	G	9: 45,838,057 (GRCm39)	T572A	possibly damaging	Het
Pex11a	C	T	7: 79,389,918 (GRCm39)	R56H	possibly damaging	Het
Pnma8b	C	T	7: 16,680,521 (GRCm39)	H502Y	probably benign	Het
Saa4	T	A	7: 46,379,053 (GRCm39)	N96Y	possibly damaging	Het
Serpinb6d	T	A	13: 33,851,663 (GRCm39)	V140E	probably damaging	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
St18	G	A	1: 6,925,697 (GRCm39)		probably null	Het
Taf3	T	C	2: 9,956,469 (GRCm39)	E566G	possibly damaging	Het
Tnr	T	C	1: 159,750,983 (GRCm39)	S1315P	possibly damaging	Het
Trappc11	T	C	8: 47,967,138 (GRCm39)	E412G	probably damaging	Het
Trpc2	G	A	7: 101,733,711 (GRCm39)	S220N	probably damaging	Het
Trpm7	A	G	2: 126,693,441 (GRCm39)	V48A	probably damaging	Het
Tubb6	A	G	18: 67,535,121 (GRCm39)	Y340C	probably damaging	Het
Vmn1r197	C	A	13: 22,512,746 (GRCm39)	Y222*	probably null	Het
Vmn2r97	T	C	17: 19,148,413 (GRCm39)	S103P	probably damaging	Het
Zfp362	C	G	4: 128,680,682 (GRCm39)		probably benign	Het
Zfp423	A	G	8: 88,507,972 (GRCm39)	C666R	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
IGL01663:Fbll1	APN	11	35,688,648 (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
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

Predicted Primers

PCR Primer
(F):5'- GCCTCAACTGTACACTTGGG -3'
(R):5'- GTTGAATTCTCCCATCGCGC -3'

Sequencing Primer
(F):5'- GCCTCAACTGTACACTTGGGAATTG -3'
(R):5'- CGCGATCTGGTCAACGTG -3'

Posted On

2015-03-18