Mutagenetix > Incidental Mutation

Incidental Mutation 'R4940:Fscb'

383028

Institutional Source

Beutler Lab

Gene Symbol

Fscb

Ensembl Gene

ENSMUSG00000043060

Gene Name

fibrous sheath CABYR binding protein

Synonyms

EG623046

Accession Numbers

Essential gene?

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

Stock #

R4940 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64471330-64474690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64473814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 293 (V293I)

Ref Sequence

ENSEMBL: ENSMUSP00000051554 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059833
AA Change: V293I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000051554
Gene: ENSMUSG00000043060
AA Change: V293I

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	G	5: 98,737,636	H134R	possibly damaging	Het
3632451O06Rik	A	T	14: 49,773,482	M256K	probably benign	Het
4931414P19Rik	T	C	14: 54,591,325	T240A	probably benign	Het
Abca15	T	C	7: 120,332,694	Y57H	probably benign	Het
Adgrf4	A	G	17: 42,666,529	I641T	possibly damaging	Het
Ankrd11	A	G	8: 122,889,821	Y2410H	probably damaging	Het
Apbb2	C	A	5: 66,452,261	L14F	probably null	Het
Arhgdia	T	C	11: 120,579,235	D204G	probably damaging	Het
Catsperd	A	T	17: 56,662,736	Y610F	possibly damaging	Het
Cblb	T	A	16: 52,033,103	D27E	probably damaging	Het
Ccdc180	A	T	4: 45,917,453	I893F	probably damaging	Het
Ccdc180	A	G	4: 45,917,508	H911R	probably damaging	Het
Cdh23	T	A	10: 60,307,935	I2966F	probably damaging	Het
Chat	G	A	14: 32,419,105	P445L	probably damaging	Het
Chdh	G	T	14: 30,032,852	R273L	possibly damaging	Het
Clic3	T	C	2: 25,457,917	V72A	probably benign	Het
Cyp2d12	T	A	15: 82,558,050	D244E	probably benign	Het
Ddr1	T	A	17: 35,690,130	D241V	probably damaging	Het
Dock7	T	A	4: 99,020,077	K605N	probably damaging	Het
Dsg2	T	A	18: 20,579,430	F164I	probably damaging	Het
Dstyk	T	A	1: 132,453,106	N446K	probably damaging	Het
Epb42	A	T	2: 121,034,451	L53Q	probably damaging	Het
Extl2	G	C	3: 116,027,192	K229N	probably benign	Het
Frmd4b	T	A	6: 97,298,090	S617C	probably damaging	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm4978	A	C	9: 69,450,872		probably benign	Het
Gm6729	A	G	10: 86,540,388		noncoding transcript	Het
Gnat2	A	C	3: 108,100,616	N293T	probably benign	Het
Herpud1	T	C	8: 94,390,842	I142T	probably benign	Het
Irak2	G	A	6: 113,693,730	V536I	probably benign	Het
Kcnu1	A	T	8: 25,897,862		probably null	Het
Kdm4a	A	G	4: 118,161,754	S422P	probably benign	Het
Lair1	T	A	7: 4,028,949	D53V	probably benign	Het
Lhx1	G	T	11: 84,519,909	Y196*	probably null	Het
Lrrc37a	G	A	11: 103,497,612	T2329I	unknown	Het
Mag	T	C	7: 30,909,200	D163G	probably damaging	Het
Magi3	A	G	3: 104,051,392	V459A	probably damaging	Het
Med13	A	G	11: 86,288,118	Y1451H	probably damaging	Het
Megf8	T	A	7: 25,360,706	C2341S	probably damaging	Het
Mppe1	A	G	18: 67,228,024	C221R	probably damaging	Het
Mtus1	T	A	8: 41,041,478	H39L	possibly damaging	Het
Nkpd1	C	T	7: 19,523,573	Q276*	probably null	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Nutm2	T	C	13: 50,474,873	C658R	possibly damaging	Het
Olfm1	T	C	2: 28,222,590	V239A	possibly damaging	Het
Pcnx	C	T	12: 81,917,793	H245Y	possibly damaging	Het
Pgm3	A	G	9: 86,559,476	L356S	probably damaging	Het
Pik3r4	C	G	9: 105,668,994	H207D	probably benign	Het
Pkd1l1	T	C	11: 8,844,585	T1859A	probably benign	Het
Pon3	A	T	6: 5,221,625	V335E	possibly damaging	Het
Ppp4r3b	A	G	11: 29,211,740	T705A	probably benign	Het
Prmt7	T	C	8: 106,237,278	V268A	probably benign	Het
Psd	C	T	19: 46,322,417	G398R	probably damaging	Het
Pygl	A	G	12: 70,206,381	V188A	probably damaging	Het
Rnf13	T	A	3: 57,796,206	N110K	probably damaging	Het
Rnf170	C	T	8: 26,125,911	Q77*	probably null	Het
Rrp8	A	T	7: 105,734,077	Y327*	probably null	Het
Ruvbl2	T	C	7: 45,424,726	D228G	probably damaging	Het
Scgn	T	A	13: 23,989,824	T35S	probably benign	Het
Scyl3	C	T	1: 163,934,747	P74S	probably damaging	Het
Sec61b	T	G	4: 47,483,074	S123A	probably benign	Het
Sertad2	T	C	11: 20,647,899	S32P	possibly damaging	Het
Slc23a3	T	C	1: 75,133,803		probably null	Het
Sult2a2	T	G	7: 13,738,298	V140G	probably benign	Het
Tbc1d4	A	T	14: 101,507,231	S320T	probably benign	Het
Trabd2b	T	C	4: 114,408,944	Y52H	probably damaging	Het
Traf2	T	C	2: 25,530,288	E183G	probably null	Het
Trip10	G	T	17: 57,263,017	V561F	possibly damaging	Het
Ttc7	G	T	17: 87,306,958	V184F	probably benign	Het
Ubc	A	G	5: 125,386,229	V678A	probably benign	Het
Unk	A	G	11: 116,053,665	E414G	possibly damaging	Het
Usp42	T	C	5: 143,719,762	N365D	probably damaging	Het
Zbtb26	A	T	2: 37,436,769	I85K	probably damaging	Het
Zfhx2	A	T	14: 55,066,434	H1364Q	possibly 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
R2878:Fscb	UTSW	12	64472574	missense	unknown
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
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'- AGTCTTCAAGCATAGAGTCAGTTG -3'
(R):5'- ATGATGTCTTTCACTGAAGGGG -3'

Sequencing Primer
(F):5'- GCACCTCTTCTGAGAATGGATCCAG -3'
(R):5'- GAGATTTCTGGTGAATTACAGGCTC -3'

Posted On

2016-04-27