Mutagenetix > Incidental Mutation

Incidental Mutation 'R2859:Fibin'

252623

Institutional Source

Beutler Lab

Gene Symbol

Fibin

Ensembl Gene

ENSMUSG00000074971

Gene Name

fin bud initiation factor homolog (zebrafish)

Synonyms

Fibin, 1110018M03Rik

MMRRC Submission

040449-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110191270-110193338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110192542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 200 (R200H)

Ref Sequence

ENSEMBL: ENSMUSP00000097221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099626]

AlphaFold

Q9CQS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000099626
AA Change: R200H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097221
Gene: ENSMUSG00000074971
AA Change: R200H

Domain	Start	End	E-Value	Type
Pfam:Fibin	15	210	4.1e-107	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,500,288 (GRCm39)	Y1301C	possibly damaging	Het
Amfr	A	T	8: 94,731,842 (GRCm39)	N11K	probably damaging	Het
Cadm3	A	G	1: 173,174,112 (GRCm39)	S34P	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh23	C	T	10: 60,218,432 (GRCm39)		probably null	Het
Ceacam1	T	A	7: 25,173,442 (GRCm39)	I249F	probably damaging	Het
Cuzd1	C	T	7: 130,917,863 (GRCm39)	V246M	probably damaging	Het
Ehd2	A	T	7: 15,698,054 (GRCm39)	V61E	probably damaging	Het
Fmo9	A	C	1: 166,501,236 (GRCm39)	F237C	probably damaging	Het
Garin3	T	C	11: 46,296,039 (GRCm39)	I137T	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Iqgap3	C	A	3: 88,014,903 (GRCm39)	S873*	probably null	Het
Ism2	T	C	12: 87,346,437 (GRCm39)	M15V	unknown	Het
Itk	T	G	11: 46,235,662 (GRCm39)		probably benign	Het
Mastl	C	A	2: 23,029,979 (GRCm39)	C249F	probably damaging	Het
Mink1	T	C	11: 70,503,334 (GRCm39)	V1143A	probably damaging	Het
Mrgprb4	T	A	7: 47,848,084 (GRCm39)	R281S	possibly damaging	Het
Mthfd1	T	C	12: 76,335,699 (GRCm39)	Y258H	probably damaging	Het
Ntmt1	A	G	2: 30,712,377 (GRCm39)	H140R	probably damaging	Het
Or1j12	T	C	2: 36,343,142 (GRCm39)	S182P	probably benign	Het
Or3a10	C	T	11: 73,935,653 (GRCm39)	G149D	possibly damaging	Het
Or3a1b	T	C	11: 74,012,808 (GRCm39)	I231T	probably damaging	Het
Or9e1	T	A	11: 58,732,708 (GRCm39)	V256E	probably benign	Het
Parm1	A	G	5: 91,742,165 (GRCm39)	T178A	possibly damaging	Het
Patl1	T	C	19: 11,901,195 (GRCm39)	F282L	probably damaging	Het
Phospho2	T	C	2: 69,626,195 (GRCm39)	V117A	possibly damaging	Het
Ppp4r3a	T	C	12: 101,008,906 (GRCm39)		probably null	Het
Pramel29	A	G	4: 143,936,192 (GRCm39)	S23P	probably benign	Het
Rbm17	A	G	2: 11,595,515 (GRCm39)	F230S	possibly damaging	Het
Robo3	C	A	9: 37,339,400 (GRCm39)	G196*	probably null	Het
Samhd1	A	G	2: 156,948,149 (GRCm39)		probably null	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Thbs4	A	G	13: 92,927,216 (GRCm39)	F91S	probably benign	Het
Trim34b	A	T	7: 103,985,439 (GRCm39)	N358I	probably benign	Het
Ulk1	A	G	5: 110,942,495 (GRCm39)	L255P	probably damaging	Het
Vmn2r104	T	A	17: 20,268,455 (GRCm39)	I5F	possibly damaging	Het
Vrk2	C	A	11: 26,433,324 (GRCm39)	S286I	possibly damaging	Het
Zswim3	T	C	2: 164,662,309 (GRCm39)	L263P	probably damaging	Het

Other mutations in Fibin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02676:Fibin	APN	2	110,192,929 (GRCm39)	missense	probably benign	0.36
R0478:Fibin	UTSW	2	110,193,079 (GRCm39)	missense	possibly damaging	0.93
R0654:Fibin	UTSW	2	110,192,962 (GRCm39)	missense	probably damaging	0.98
R1135:Fibin	UTSW	2	110,192,567 (GRCm39)	missense	probably benign	0.00
R2437:Fibin	UTSW	2	110,192,848 (GRCm39)	missense	probably damaging	1.00
R2857:Fibin	UTSW	2	110,192,542 (GRCm39)	missense	probably damaging	0.99
R2887:Fibin	UTSW	2	110,193,122 (GRCm39)	missense	probably benign
R4119:Fibin	UTSW	2	110,193,035 (GRCm39)	missense	probably damaging	1.00
R4979:Fibin	UTSW	2	110,192,963 (GRCm39)	missense	possibly damaging	0.87
R6232:Fibin	UTSW	2	110,193,041 (GRCm39)	missense	probably damaging	0.99
R7137:Fibin	UTSW	2	110,193,001 (GRCm39)	missense	probably damaging	0.99
R7849:Fibin	UTSW	2	110,192,825 (GRCm39)	missense	probably damaging	0.99
R9675:Fibin	UTSW	2	110,192,495 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CCCAGGGGTTAGTTTAAAATTGC -3'
(R):5'- TCACTGAGCTGGAAAGCAAG -3'

Sequencing Primer
(F):5'- TGCACAAAACCAAACTAAAATCAG -3'
(R):5'- GCAAGTTCAAGCAGGGCC -3'

Posted On

2014-12-04