Mutagenetix > Incidental Mutation

Incidental Mutation 'R0056:Fscb'

64361

Institutional Source

Beutler Lab

Gene Symbol

Fscb

Ensembl Gene

ENSMUSG00000043060

Gene Name

fibrous sheath CABYR binding protein

Synonyms

EG623046

MMRRC Submission

038350-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R0056 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

64518104-64521464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 64521021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 148 (R148S)

Ref Sequence

ENSEMBL: ENSMUSP00000051554 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059833
AA Change: R148S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000051554
Gene: ENSMUSG00000043060
AA Change: R148S

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: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bms1	A	T	6: 118,382,190 (GRCm39)	D449E	probably benign	Het
Etv3	T	C	3: 87,443,135 (GRCm39)	Y240H	possibly damaging	Het
Mapk6	A	G	9: 75,296,098 (GRCm39)	Y467H	possibly damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mogat1	T	G	1: 78,500,407 (GRCm39)	M157R	probably damaging	Het
Pold2	T	A	11: 5,822,338 (GRCm39)	S444C	possibly damaging	Het
Robo4	G	A	9: 37,315,773 (GRCm39)	R342Q	probably benign	Het
Satb1	T	A	17: 52,047,231 (GRCm39)	I695F	probably damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Stk10	T	A	11: 32,567,851 (GRCm39)	N884K	possibly damaging	Het
Tex15	A	G	8: 34,072,055 (GRCm39)	H2534R	probably benign	Het
Ticam2	G	T	18: 46,693,401 (GRCm39)	Q229K	possibly damaging	Het

Other mutations in Fscb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Fscb	APN	12	64,520,155 (GRCm39)	missense	possibly damaging	0.46
IGL01099:Fscb	APN	12	64,518,875 (GRCm39)	missense	unknown
IGL01394:Fscb	APN	12	64,520,578 (GRCm39)	missense	possibly damaging	0.83
IGL02570:Fscb	APN	12	64,518,952 (GRCm39)	missense	unknown
IGL02974:Fscb	APN	12	64,518,299 (GRCm39)	missense	unknown
IGL03150:Fscb	APN	12	64,519,204 (GRCm39)	missense	unknown
IGL03407:Fscb	APN	12	64,520,269 (GRCm39)	missense	probably damaging	0.96
BB007:Fscb	UTSW	12	64,519,337 (GRCm39)	missense	unknown
BB017:Fscb	UTSW	12	64,519,337 (GRCm39)	missense	unknown
FR4548:Fscb	UTSW	12	64,519,339 (GRCm39)	missense	unknown
FR4548:Fscb	UTSW	12	64,519,337 (GRCm39)	missense	unknown
R0490:Fscb	UTSW	12	64,519,661 (GRCm39)	missense	unknown
R0492:Fscb	UTSW	12	64,520,292 (GRCm39)	missense	possibly damaging	0.46
R0702:Fscb	UTSW	12	64,518,775 (GRCm39)	missense	unknown
R1017:Fscb	UTSW	12	64,520,242 (GRCm39)	missense	probably benign	0.07
R1672:Fscb	UTSW	12	64,518,292 (GRCm39)	missense	unknown
R1737:Fscb	UTSW	12	64,521,355 (GRCm39)	missense	possibly damaging	0.83
R1795:Fscb	UTSW	12	64,521,175 (GRCm39)	missense	probably damaging	0.99
R1969:Fscb	UTSW	12	64,520,008 (GRCm39)	missense	unknown
R1984:Fscb	UTSW	12	64,521,457 (GRCm39)	missense	unknown
R2164:Fscb	UTSW	12	64,520,567 (GRCm39)	missense	probably damaging	0.96
R2213:Fscb	UTSW	12	64,520,890 (GRCm39)	missense	possibly damaging	0.84
R2874:Fscb	UTSW	12	64,520,210 (GRCm39)	missense	probably benign	0.00
R2878:Fscb	UTSW	12	64,519,348 (GRCm39)	missense	unknown
R3873:Fscb	UTSW	12	64,519,906 (GRCm39)	missense	unknown
R4734:Fscb	UTSW	12	64,521,244 (GRCm39)	missense	possibly damaging	0.82
R4773:Fscb	UTSW	12	64,520,464 (GRCm39)	missense	probably damaging	1.00
R4940:Fscb	UTSW	12	64,520,588 (GRCm39)	missense	probably benign	0.03
R4981:Fscb	UTSW	12	64,520,393 (GRCm39)	missense	possibly damaging	0.46
R5105:Fscb	UTSW	12	64,520,110 (GRCm39)	missense	possibly damaging	0.82
R5845:Fscb	UTSW	12	64,519,558 (GRCm39)	missense	unknown
R6049:Fscb	UTSW	12	64,521,094 (GRCm39)	missense	possibly damaging	0.66
R6743:Fscb	UTSW	12	64,518,347 (GRCm39)	missense	unknown
R7026:Fscb	UTSW	12	64,518,391 (GRCm39)	missense	unknown
R7285:Fscb	UTSW	12	64,518,323 (GRCm39)	missense	unknown
R7372:Fscb	UTSW	12	64,518,598 (GRCm39)	missense	unknown
R7400:Fscb	UTSW	12	64,518,391 (GRCm39)	missense	unknown
R7563:Fscb	UTSW	12	64,520,059 (GRCm39)	missense	possibly damaging	0.82
R7748:Fscb	UTSW	12	64,521,181 (GRCm39)	missense	probably benign	0.04
R7759:Fscb	UTSW	12	64,520,866 (GRCm39)	missense	probably benign	0.03
R7930:Fscb	UTSW	12	64,519,337 (GRCm39)	missense	unknown
R8026:Fscb	UTSW	12	64,521,049 (GRCm39)	missense	probably benign	0.12
R8070:Fscb	UTSW	12	64,521,382 (GRCm39)	missense	probably benign	0.04
R8081:Fscb	UTSW	12	64,518,802 (GRCm39)	missense	unknown
R8331:Fscb	UTSW	12	64,520,242 (GRCm39)	missense	probably benign	0.07
R8405:Fscb	UTSW	12	64,520,278 (GRCm39)	missense	possibly damaging	0.82
R8788:Fscb	UTSW	12	64,518,395 (GRCm39)	missense	unknown
R8833:Fscb	UTSW	12	64,519,997 (GRCm39)	missense	unknown
R8997:Fscb	UTSW	12	64,520,758 (GRCm39)	missense	possibly damaging	0.46
R9192:Fscb	UTSW	12	64,520,890 (GRCm39)	missense	possibly damaging	0.49
R9282:Fscb	UTSW	12	64,520,097 (GRCm39)	missense	possibly damaging	0.46
R9437:Fscb	UTSW	12	64,519,708 (GRCm39)	missense	unknown
R9581:Fscb	UTSW	12	64,521,122 (GRCm39)	missense	probably benign	0.16
RF011:Fscb	UTSW	12	64,519,768 (GRCm39)	small deletion	probably benign
RF019:Fscb	UTSW	12	64,519,370 (GRCm39)	small insertion	probably benign
RF038:Fscb	UTSW	12	64,519,343 (GRCm39)	small insertion	probably benign
Z1176:Fscb	UTSW	12	64,519,704 (GRCm39)	missense	unknown
Z1177:Fscb	UTSW	12	64,519,402 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGCCTCACCATTTGATAGAGCCTG -3'
(R):5'- CATGGCTTCAGTACAACCTCCTGC -3'

Sequencing Primer
(F):5'- CATGACATCAGGAAGTTCTTCAGG -3'
(R):5'- GCCCCTAAAGCTACTCATAGTATTGG -3'

Posted On

2013-08-06