Mutagenetix > Incidental Mutation

Incidental Mutation 'R2878:Fscb'

260186

Institutional Source

Beutler Lab

Gene Symbol

Fscb

Ensembl Gene

ENSMUSG00000043060

Gene Name

fibrous sheath CABYR binding protein

Synonyms

EG623046

MMRRC Submission

040466-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R2878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64471330-64474690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64472574 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 706 (V706E)

Ref Sequence

ENSEMBL: ENSMUSP00000051554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059833]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000059833
AA Change: V706E

SMART Domains

Protein: ENSMUSP00000051554
Gene: ENSMUSG00000043060
AA Change: V706E

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
low complexity region	273	290	N/A	INTRINSIC
internal_repeat_1	295	465	2.4e-7	PROSPERO
low complexity region	483	501	N/A	INTRINSIC
low complexity region	510	547	N/A	INTRINSIC
low complexity region	558	595	N/A	INTRINSIC
low complexity region	599	622	N/A	INTRINSIC
low complexity region	641	661	N/A	INTRINSIC
low complexity region	673	708	N/A	INTRINSIC
low complexity region	721	730	N/A	INTRINSIC
internal_repeat_1	736	895	2.4e-7	PROSPERO
internal_repeat_2	751	871	6.17e-6	PROSPERO
low complexity region	899	916	N/A	INTRINSIC
internal_repeat_2	919	1046	6.17e-6	PROSPERO

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

92% (58/63)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,291,889	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,859,410	M384K	probably damaging	Het
Adgrg7	A	G	16: 56,750,454	F404L	probably benign	Het
Akr1c20	G	A	13: 4,507,775	T251M	probably damaging	Het
Amph	G	A	13: 19,104,267	V309I	possibly damaging	Het
Ano2	T	G	6: 125,863,518	F384C	probably damaging	Het
Aplf	G	A	6: 87,668,427	R32*	probably null	Het
Arhgef18	A	G	8: 3,432,759	M155V	probably benign	Het
Atg2b	A	T	12: 105,664,009	Y374*	probably null	Het
Camkmt	T	C	17: 85,431,551		probably benign	Het
Capn2	T	A	1: 182,517,233	E41V	probably benign	Het
Cd53	T	C	3: 106,767,416	T112A	probably benign	Het
Cyp2a4	G	A	7: 26,312,187	E278K	possibly damaging	Het
Dact2	A	T	17: 14,195,914	S675T	probably damaging	Het
Dync1li2	A	C	8: 104,429,415	Y265D	probably damaging	Het
Eml4	T	A	17: 83,410,174	H58Q	probably benign	Het
F13b	T	C	1: 139,501,747	M1T	probably null	Het
Fam83b	A	G	9: 76,490,810	F1004L	probably damaging	Het
Fbxo48	A	G	11: 16,953,382	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,181,466	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,485,970	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,838,666	P60S	probably benign	Het
Gfm2	A	G	13: 97,153,249	R181G	possibly damaging	Het
Gm17546	A	T	15: 95,829,924		probably benign	Het
Gm4778	G	T	3: 94,266,480	C265F	possibly damaging	Het
Grin1	A	G	2: 25,297,629	V594A	probably damaging	Het
Itpripl1	A	G	2: 127,141,614	V196A	probably benign	Het
Kcns1	A	G	2: 164,164,762	I427T	probably damaging	Het
Map3k19	T	A	1: 127,823,793	E607V	possibly damaging	Het
Map3k4	T	C	17: 12,264,067	S588G	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Nat6	A	T	9: 107,583,168	E87D	possibly damaging	Het
Nebl	C	A	2: 17,434,929	D178Y	probably damaging	Het
Nfatc3	C	A	8: 106,092,144	T498K	probably damaging	Het
Nfkb2	G	A	19: 46,307,441	R158H	possibly damaging	Het
Obscn	T	C	11: 59,056,188	E4337G	possibly damaging	Het
Olfr1459	A	G	19: 13,146,407	L84P	probably benign	Het
Palb2	A	G	7: 122,114,429	V877A	probably damaging	Het
Rbm6	T	C	9: 107,852,450	E333G	probably damaging	Het
Rem2	A	G	14: 54,476,362	T31A	possibly damaging	Het
Ric1	A	G	19: 29,602,330	D1224G	possibly damaging	Het
Rp1	A	G	1: 4,348,139	S917P	probably damaging	Het
Scn2a	G	A	2: 65,688,371	G363D	probably damaging	Het
Shcbp1l	A	T	1: 153,437,518		probably benign	Het
Skor2	G	T	18: 76,860,724	E714*	probably null	Het
Slc15a1	T	A	14: 121,465,933	K545N	probably benign	Het
Slc1a2	T	A	2: 102,761,167	M414K	probably damaging	Het
Slc7a8	A	G	14: 54,759,686	S70P	probably damaging	Het
Taf1a	A	G	1: 183,397,835	E117G	probably damaging	Het
Trem2	A	G	17: 48,351,113	D135G	probably benign	Het
Ttn	T	C	2: 76,737,065	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,260,039	D258G	probably benign	Het
Unc80	TGTATTCCAGGCG	TG	1: 66,671,576		probably benign	Het
Vmn2r56	A	C	7: 12,711,027	M433R	probably benign	Het
Wdr45	C	T	X: 7,727,372	P271S	probably damaging	Het
Zfp410	A	C	12: 84,331,637	N245T	probably damaging	Het

Other mutations in Fscb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Fscb	APN	12	64473381	missense	possibly damaging	0.46
IGL01099:Fscb	APN	12	64472101	missense	unknown
IGL01394:Fscb	APN	12	64473804	missense	possibly damaging	0.83
IGL02570:Fscb	APN	12	64472178	missense	unknown
IGL02974:Fscb	APN	12	64471525	missense	unknown
IGL03150:Fscb	APN	12	64472430	missense	unknown
IGL03407:Fscb	APN	12	64473495	missense	probably damaging	0.96
BB007:Fscb	UTSW	12	64472563	missense	unknown
BB017:Fscb	UTSW	12	64472563	missense	unknown
FR4548:Fscb	UTSW	12	64472563	missense	unknown
FR4548:Fscb	UTSW	12	64472565	missense	unknown
R0056:Fscb	UTSW	12	64474247	missense	possibly damaging	0.66
R0490:Fscb	UTSW	12	64472887	missense	unknown
R0492:Fscb	UTSW	12	64473518	missense	possibly damaging	0.46
R0702:Fscb	UTSW	12	64472001	missense	unknown
R1017:Fscb	UTSW	12	64473468	missense	probably benign	0.07
R1672:Fscb	UTSW	12	64471518	missense	unknown
R1737:Fscb	UTSW	12	64474581	missense	possibly damaging	0.83
R1795:Fscb	UTSW	12	64474401	missense	probably damaging	0.99
R1969:Fscb	UTSW	12	64473234	missense	unknown
R1984:Fscb	UTSW	12	64474683	missense	unknown
R2164:Fscb	UTSW	12	64473793	missense	probably damaging	0.96
R2213:Fscb	UTSW	12	64474116	missense	possibly damaging	0.84
R2874:Fscb	UTSW	12	64473436	missense	probably benign	0.00
R3873:Fscb	UTSW	12	64473132	missense	unknown
R4734:Fscb	UTSW	12	64474470	missense	possibly damaging	0.82
R4773:Fscb	UTSW	12	64473690	missense	probably damaging	1.00
R4940:Fscb	UTSW	12	64473814	missense	probably benign	0.03
R4981:Fscb	UTSW	12	64473619	missense	possibly damaging	0.46
R5105:Fscb	UTSW	12	64473336	missense	possibly damaging	0.82
R5845:Fscb	UTSW	12	64472784	missense	unknown
R6049:Fscb	UTSW	12	64474320	missense	possibly damaging	0.66
R6743:Fscb	UTSW	12	64471573	missense	unknown
R7026:Fscb	UTSW	12	64471617	missense	unknown
R7285:Fscb	UTSW	12	64471549	missense	unknown
R7372:Fscb	UTSW	12	64471824	missense	unknown
R7400:Fscb	UTSW	12	64471617	missense	unknown
R7563:Fscb	UTSW	12	64473285	missense	possibly damaging	0.82
R7748:Fscb	UTSW	12	64474407	missense	probably benign	0.04
R7759:Fscb	UTSW	12	64474092	missense	probably benign	0.03
R7930:Fscb	UTSW	12	64472563	missense	unknown
R8026:Fscb	UTSW	12	64474275	missense	probably benign	0.12
R8070:Fscb	UTSW	12	64474608	missense	probably benign	0.04
R8081:Fscb	UTSW	12	64472028	missense	unknown
R8331:Fscb	UTSW	12	64473468	missense	probably benign	0.07
R8405:Fscb	UTSW	12	64473504	missense	possibly damaging	0.82
R8788:Fscb	UTSW	12	64471621	missense	unknown
R8833:Fscb	UTSW	12	64473223	missense	unknown
R8997:Fscb	UTSW	12	64473984	missense	possibly damaging	0.46
R9192:Fscb	UTSW	12	64474116	missense	possibly damaging	0.49
R9282:Fscb	UTSW	12	64473323	missense	possibly damaging	0.46
R9437:Fscb	UTSW	12	64472934	missense	unknown
R9581:Fscb	UTSW	12	64474348	missense	probably benign	0.16
RF011:Fscb	UTSW	12	64472994	small deletion	probably benign
RF019:Fscb	UTSW	12	64472596	small insertion	probably benign
RF038:Fscb	UTSW	12	64472569	small insertion	probably benign
Z1176:Fscb	UTSW	12	64472930	missense	unknown
Z1177:Fscb	UTSW	12	64472628	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACTTGTGCAGAGGCTTCTTCAG -3'
(R):5'- GGCTCTGCTGAAGTTTCTCC -3'

Sequencing Primer
(F):5'- TTCAGCAGTGGACTCACCTGATAAAG -3'
(R):5'- GTTTCTCCTCCACAAACTGAAGAGG -3'

Posted On

2015-01-23