Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03407:Fscb'

421626

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 #

IGL03407

Quality Score

Status

Chromosome

Chromosomal Location

64518104-64521464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64520269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 399 (A399D)

Ref Sequence

ENSEMBL: ENSMUSP00000051554 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000059833
AA Change: A399D

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051554
Gene: ENSMUSG00000043060
AA Change: A399D

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,904,111 (GRCm39)	V198A	probably benign	Het
Acot3	A	T	12: 84,105,415 (GRCm39)	D294V	probably damaging	Het
Dnajc10	T	C	2: 80,176,985 (GRCm39)	Y647H	probably damaging	Het
Eml6	G	A	11: 29,856,330 (GRCm39)	L67F	probably damaging	Het
Fbxw8	A	G	5: 118,280,741 (GRCm39)	C139R	probably damaging	Het
Gm21726	T	C	13: 90,731,760 (GRCm39)		noncoding transcript	Het
Lama2	A	T	10: 27,223,017 (GRCm39)	V423D	probably damaging	Het
Mctp2	A	T	7: 71,861,400 (GRCm39)	I415N	probably benign	Het
Myh13	A	G	11: 67,242,978 (GRCm39)	T964A	probably damaging	Het
Ncf4	A	G	15: 78,138,981 (GRCm39)		probably benign	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Or3a1d	G	T	11: 74,238,371 (GRCm39)	T13K	possibly damaging	Het
Or51m1	A	T	7: 103,578,158 (GRCm39)	N43Y	probably damaging	Het
Plch2	A	T	4: 155,074,255 (GRCm39)	V870E	probably damaging	Het
Prss55	A	T	14: 64,314,539 (GRCm39)	D210E	probably damaging	Het
Rad51ap2	A	G	12: 11,507,198 (GRCm39)	I373M	possibly damaging	Het
Rbm12	C	A	2: 155,939,484 (GRCm39)	G263*	probably null	Het
Rnf167	G	T	11: 70,541,879 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,477,237 (GRCm39)	I715T	probably damaging	Het
Spata31f1a	A	T	4: 42,850,528 (GRCm39)	W543R	probably benign	Het
St8sia1	T	C	6: 142,859,775 (GRCm39)	N118S	possibly damaging	Het
Tas1r3	A	G	4: 155,946,439 (GRCm39)		probably null	Het
Thbs2	A	G	17: 14,893,535 (GRCm39)	S882P	probably benign	Het
Tmem25	A	G	9: 44,707,636 (GRCm39)	S220P	probably damaging	Het
Tnpo1	C	T	13: 99,000,348 (GRCm39)	E340K	probably damaging	Het
Trex1	C	T	9: 108,887,395 (GRCm39)	G199S	probably damaging	Het
Ttn	T	C	2: 76,544,545 (GRCm39)	I32814V	probably damaging	Het
Vmn2r15	T	A	5: 109,434,185 (GRCm39)	R840*	probably null	Het
Vps13b	A	T	15: 35,640,012 (GRCm39)	Q1294L	possibly damaging	Het
Zdhhc7	T	C	8: 120,812,131 (GRCm39)	N164D	probably 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
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

2016-08-02