Mutagenetix > Incidental Mutation

Incidental Mutation 'R9437:Fscb'

713336

Institutional Source

Beutler Lab

Gene Symbol

Fscb

Ensembl Gene

ENSMUSG00000043060

Gene Name

fibrous sheath CABYR binding protein

Synonyms

EG623046

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R9437 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64518104-64521464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64519708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 586 (A586E)

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: A586E

SMART Domains

Protein: ENSMUSP00000051554
Gene: ENSMUSG00000043060
AA Change: A586E

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	T	C	17: 32,553,608 (GRCm39)	S371G	probably benign	Het
Bdp1	A	G	13: 100,162,158 (GRCm39)	S2255P	probably benign	Het
Ccdc93	C	T	1: 121,369,584 (GRCm39)	Q109*	probably null	Het
Copa	G	A	1: 171,931,712 (GRCm39)	R321H	possibly damaging	Het
Cyp2b23	A	T	7: 26,372,199 (GRCm39)	D415E	possibly damaging	Het
Dcun1d2	T	C	8: 13,331,004 (GRCm39)	D42G	probably benign	Het
Ebf4	T	A	2: 130,202,005 (GRCm39)	S325T	probably benign	Het
Ergic2	T	C	6: 148,097,562 (GRCm39)	E137G	probably benign	Het
Etl4	T	C	2: 20,813,872 (GRCm39)	S1304P	probably benign	Het
Fam24b	A	T	7: 130,927,893 (GRCm39)	C99S	probably benign	Het
Fat4	A	G	3: 38,945,417 (GRCm39)	T1437A	probably benign	Het
Fgd5	A	G	6: 91,964,627 (GRCm39)	T287A	probably benign	Het
Gm2244	A	T	14: 19,599,038 (GRCm39)	I86N	probably damaging	Het
Hnrnph3	T	A	10: 62,854,627 (GRCm39)	R55*	probably null	Het
Kcnk5	A	C	14: 20,192,468 (GRCm39)	I231S	probably damaging	Het
Krt10	A	G	11: 99,276,390 (GRCm39)	M87T	probably benign	Het
Ly6c2	C	G	15: 74,983,535 (GRCm39)		probably benign	Het
Map4	C	A	9: 109,864,155 (GRCm39)	T460K	possibly damaging	Het
Mok	A	G	12: 110,774,659 (GRCm39)	C388R	probably benign	Het
Ms4a3	T	C	19: 11,607,065 (GRCm39)	D200G	possibly damaging	Het
Ncapd2	A	G	6: 125,153,655 (GRCm39)	Y687H	probably damaging	Het
Nrp1	A	G	8: 129,187,108 (GRCm39)	T385A	probably benign	Het
Or2w25	T	C	11: 59,504,195 (GRCm39)	M135T	possibly damaging	Het
Or56a41	A	T	7: 104,739,963 (GRCm39)	Y294*	probably null	Het
Osbp2	A	G	11: 3,664,581 (GRCm39)	S131P	probably damaging	Het
Pcdhga3	G	A	18: 37,808,144 (GRCm39)	R199H	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pigx	G	T	16: 31,918,310 (GRCm39)	D26E	probably benign	Het
Pkn3	T	C	2: 29,973,267 (GRCm39)	I363T	possibly damaging	Het
Psg16	T	A	7: 16,827,715 (GRCm39)	Y133N	probably damaging	Het
Pygl	A	G	12: 70,246,925 (GRCm39)	I407T	probably damaging	Het
Rc3h2	G	A	2: 37,272,841 (GRCm39)	A745V	possibly damaging	Het
Srgap1	T	C	10: 121,636,777 (GRCm39)	E703G	probably benign	Het
Susd4	T	C	1: 182,681,697 (GRCm39)		probably null	Het
Tbpl1	T	C	10: 22,587,838 (GRCm39)	N37S	probably damaging	Het
Tex264	T	C	9: 106,559,096 (GRCm39)	I77V	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
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
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'- CTTCTGTAGGGAACTCCTCAGC -3'
(R):5'- AGAAGTTCTGCCTCCACCAG -3'

Sequencing Primer
(F):5'- TAGGGAACTCCTCAGCTGGTG -3'
(R):5'- TTCTGCCTCCACCAGCAGAG -3'

Posted On

2022-05-16