Mutagenetix > Incidental Mutation

Incidental Mutation 'R0702:Fscb'

63060

Institutional Source

Beutler Lab

Gene Symbol

Fscb

Ensembl Gene

ENSMUSG00000043060

Gene Name

fibrous sheath CABYR binding protein

Synonyms

EG623046

MMRRC Submission

038885-MU

Accession Numbers

Essential gene?

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

Stock #

R0702 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

64518104-64521464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64518775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 897 (P897L)

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: P897L

SMART Domains

Protein: ENSMUSP00000051554
Gene: ENSMUSG00000043060
AA Change: P897L

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: 97.6%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd11	A	T	8: 123,616,505 (GRCm39)	I2428N	probably damaging	Het
Ano9	A	G	7: 140,687,195 (GRCm39)	V348A	probably damaging	Het
Cfap69	A	G	5: 5,694,465 (GRCm39)	I132T	probably benign	Het
Chd1l	C	T	3: 97,474,110 (GRCm39)	D791N	probably benign	Het
Chl1	A	G	6: 103,683,583 (GRCm39)	Y819C	probably damaging	Het
Col5a2	T	A	1: 45,419,291 (GRCm39)	D1263V	possibly damaging	Het
Csnk1g1	C	T	9: 65,917,775 (GRCm39)	R45W	probably damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dgat2l6	G	A	X: 99,586,287 (GRCm39)	V180M	probably damaging	Het
Herc6	T	C	6: 57,558,092 (GRCm39)	L24P	probably damaging	Het
Il23r	T	A	6: 67,443,269 (GRCm39)	Q278L	probably damaging	Het
Kpna4	A	T	3: 68,991,438 (GRCm39)	V361D	probably damaging	Het
Muc1	A	G	3: 89,137,527 (GRCm39)	D123G	probably benign	Het
Notch4	A	G	17: 34,794,177 (GRCm39)	Y722C	probably damaging	Het
Ntng1	G	C	3: 109,779,570 (GRCm39)	R336G	probably damaging	Het
Or5ac17	T	C	16: 59,036,062 (GRCm39)	M305V	probably benign	Het
Pgbd5	C	T	8: 125,100,994 (GRCm39)	V421M	probably benign	Het
Prkdc	A	G	16: 15,603,835 (GRCm39)	T2950A	possibly damaging	Het
Proser3	A	T	7: 30,238,955 (GRCm39)	D630E	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Serpina3g	A	G	12: 104,207,512 (GRCm39)	E225G	probably damaging	Het
Slc2a13	T	C	15: 91,205,870 (GRCm39)	D439G	probably benign	Het
Srebf2	T	C	15: 82,061,610 (GRCm39)	L352P	probably damaging	Het
Trpc5	A	G	X: 143,194,735 (GRCm39)	V590A	probably damaging	Het
Ubqln2	A	T	X: 152,282,665 (GRCm39)	M406L	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
R0056:Fscb	UTSW	12	64,521,021 (GRCm39)	missense	possibly damaging	0.66
R0490:Fscb	UTSW	12	64,519,661 (GRCm39)	missense	unknown
R0492:Fscb	UTSW	12	64,520,292 (GRCm39)	missense	possibly damaging	0.46
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'- GCAGGCATCTTTTCCACACGAAAC -3'
(R):5'- CACTTCCAGCATCTGAGGCAGATAC -3'

Sequencing Primer
(F):5'- GAAACTCTTGCATAGTAACCTCG -3'
(R):5'- CATCTGAGGCAGATACTGGAAG -3'

Posted On

2013-07-30