Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01095:Fscb'

52446

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fscb

Ensembl Gene

ENSMUSG00000043060

Gene Name

fibrous sheath CABYR binding protein

Synonyms

EG623046

Accession Numbers

Essential gene?

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

Stock #

IGL01095

Quality Score

Status

Chromosome

Chromosomal Location

64518104-64521464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64520155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 437 (V437A)

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: V437A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051554
Gene: ENSMUSG00000043060
AA Change: V437A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	A	8: 44,079,133 (GRCm39)	I364L	probably benign	Het
Adgra1	A	G	7: 139,425,570 (GRCm39)	T28A	possibly damaging	Het
Aldh8a1	A	G	10: 21,265,180 (GRCm39)	E269G	probably benign	Het
Alkbh7	A	G	17: 57,304,470 (GRCm39)		probably null	Het
Ap1g2	T	C	14: 55,342,571 (GRCm39)	T129A	probably benign	Het
Ap1s1	A	G	5: 137,070,663 (GRCm39)	I117T	probably damaging	Het
Brca1	G	A	11: 101,415,195 (GRCm39)	P119S	possibly damaging	Het
Chid1	A	G	7: 141,110,142 (GRCm39)	V62A	probably damaging	Het
Cpa1	A	T	6: 30,642,968 (GRCm39)	I299F	probably benign	Het
Cuzd1	A	G	7: 130,917,865 (GRCm39)	V245A	probably damaging	Het
Ddx39b	T	C	17: 35,465,937 (GRCm39)	S71P	probably benign	Het
Ddx42	A	G	11: 106,138,325 (GRCm39)	Y708C	probably damaging	Het
Dnah3	C	A	7: 119,550,820 (GRCm39)	L3166F	probably benign	Het
Erap1	A	G	13: 74,816,213 (GRCm39)	E114G	probably benign	Het
Fap	G	A	2: 62,354,545 (GRCm39)	T448I	possibly damaging	Het
Fhl2	A	T	1: 43,170,841 (GRCm39)	Y158N	probably benign	Het
Il18	A	T	9: 50,490,629 (GRCm39)	D88V	probably damaging	Het
Il5ra	A	T	6: 106,719,605 (GRCm39)		probably benign	Het
Jakmip3	A	T	7: 138,622,546 (GRCm39)	Q302L	probably damaging	Het
Lrp2	A	T	2: 69,322,776 (GRCm39)	Y1857*	probably null	Het
Meis2	T	C	2: 115,694,905 (GRCm39)	T406A	probably benign	Het
Mre11a	T	A	9: 14,721,120 (GRCm39)	S346R	probably benign	Het
Myh15	A	T	16: 48,952,378 (GRCm39)	K816M	probably damaging	Het
Mysm1	C	T	4: 94,856,106 (GRCm39)		probably null	Het
Nyap1	C	A	5: 137,736,346 (GRCm39)	R47L	probably damaging	Het
Oas3	A	G	5: 120,910,954 (GRCm39)	Y209H	probably damaging	Het
Or2v2	T	G	11: 49,003,680 (GRCm39)	Y291S	probably damaging	Het
Or4g16	A	G	2: 111,136,966 (GRCm39)	R139G	probably benign	Het
Or6c209	A	G	10: 129,483,498 (GRCm39)	D167G	probably benign	Het
Or8b42	A	G	9: 38,341,811 (GRCm39)	I78V	probably benign	Het
Or8d6	T	C	9: 39,853,976 (GRCm39)	V140A	probably benign	Het
Pde4b	T	C	4: 102,363,241 (GRCm39)		probably null	Het
Psd3	G	A	8: 68,361,165 (GRCm39)	T99M	probably damaging	Het
R3hcc1	T	C	14: 69,937,477 (GRCm39)	E390G	probably damaging	Het
Rabgap1l	A	C	1: 160,566,539 (GRCm39)	C58W	probably benign	Het
Rasd1	A	G	11: 59,855,117 (GRCm39)	I121T	probably damaging	Het
Spta1	A	G	1: 174,041,051 (GRCm39)	N1284D	probably benign	Het
Tpr	T	C	1: 150,285,891 (GRCm39)	V525A	possibly damaging	Het

Other mutations in Fscb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-06-21