Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02021:Fcho1'

183953

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fcho1

Ensembl Gene

ENSMUSG00000070000

Gene Name

FCH domain only 1

Synonyms

3322402E17Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

IGL02021

Quality Score

Status

Chromosome

Chromosomal Location

71708387-71725716 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 71721275 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 2 (S2A)

Ref Sequence

ENSEMBL: ENSMUSP00000116135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093444] [ENSMUST00000125092] [ENSMUST00000136640] [ENSMUST00000146100] [ENSMUST00000153800]

Predicted Effect

probably benign
Transcript: ENSMUST00000093444
AA Change: S2A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: S2A

Domain	Start	End	E-Value	Type
FCH	6	92	2.05e-21	SMART
low complexity region	334	351	N/A	INTRINSIC
low complexity region	364	382	N/A	INTRINSIC
low complexity region	446	466	N/A	INTRINSIC
low complexity region	567	576	N/A	INTRINSIC
Pfam:muHD	610	872	4.9e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125092
AA Change: S2A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123554
Gene: ENSMUSG00000070000
AA Change: S2A

Domain	Start	End	E-Value	Type
FCH	6	88	7.62e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126455

Predicted Effect

probably benign
Transcript: ENSMUST00000136640
AA Change: S2A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000119273
Gene: ENSMUSG00000070000
AA Change: S2A

Domain	Start	End	E-Value	Type
FCH	6	92	2.05e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143699

Predicted Effect

probably benign
Transcript: ENSMUST00000146100
AA Change: S2A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: S2A

Domain	Start	End	E-Value	Type
FCH	6	92	2.05e-21	SMART
low complexity region	334	351	N/A	INTRINSIC
low complexity region	364	382	N/A	INTRINSIC
low complexity region	446	466	N/A	INTRINSIC
low complexity region	567	576	N/A	INTRINSIC
Pfam:muHD	610	872	1.4e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152742

Predicted Effect

probably benign
Transcript: ENSMUST00000153800
AA Change: S2A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116135
Gene: ENSMUSG00000070000
AA Change: S2A

Domain	Start	End	E-Value	Type
FCH	6	92	2.05e-21	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002L01Rik	G	A	12: 3,407,890		probably benign	Het
Adam10	C	T	9: 70,743,909	T72I	possibly damaging	Het
Adam26b	T	A	8: 43,519,872	M698L	probably benign	Het
Ankrd27	A	T	7: 35,614,456	H404L	probably damaging	Het
Atp1a1	T	C	3: 101,594,208	S60G	probably benign	Het
Bcat1	T	C	6: 145,047,289		probably benign	Het
Cd177	G	A	7: 24,745,206	A650V	probably benign	Het
Cmya5	T	C	13: 93,094,549	N1344D	probably benign	Het
Ctsd	G	T	7: 142,385,476	L71I	probably damaging	Het
Dctn2	T	C	10: 127,275,057		probably null	Het
Ddr1	G	A	17: 35,683,480	A801V	probably damaging	Het
Duoxa1	A	G	2: 122,304,646	F251S	probably benign	Het
Gm4861	T	C	3: 137,552,110		probably null	Het
Gm4922	C	A	10: 18,784,477	G166W	probably damaging	Het
Hic2	A	G	16: 17,258,753	E482G	probably benign	Het
Hoxa5	C	T	6: 52,202,657	R246K	probably damaging	Het
Ipo11	A	T	13: 106,857,237	F721I	probably damaging	Het
Lama1	A	T	17: 67,821,626	S2993C	probably damaging	Het
Lonp2	T	A	8: 86,708,971	S612T	probably benign	Het
Lpar5	T	G	6: 125,081,992	Y225*	probably null	Het
Map4k3	A	G	17: 80,609,826	Y574H	probably damaging	Het
Msantd4	A	G	9: 4,385,163	E296G	probably damaging	Het
Ncs1	A	G	2: 31,284,165	D109G	probably damaging	Het
Nnt	T	C	13: 119,336,247		probably benign	Het
Nr1h5	T	C	3: 102,947,742		probably benign	Het
Olfr1288	A	G	2: 111,479,480	D232G	probably benign	Het
Olfr704	A	T	7: 106,865,489	K170*	probably null	Het
Plk4	A	G	3: 40,810,708	D595G	probably damaging	Het
Rbm17	C	A	2: 11,595,438		probably benign	Het
Slc24a3	T	A	2: 145,518,916	I193N	probably damaging	Het
St5	T	C	7: 109,557,372	Y57C	probably damaging	Het
Stat5a	G	T	11: 100,883,889	V759F	probably damaging	Het
Tgfbi	T	A	13: 56,631,353	L463Q	probably damaging	Het
Tigar	G	T	6: 127,089,290	A95E	probably damaging	Het
Tph1	A	G	7: 46,656,997	I180T	possibly damaging	Het
Usp22	T	A	11: 61,154,499	Y517F	probably damaging	Het
Vmn2r105	A	C	17: 20,227,895	I222M	possibly damaging	Het
Wapl	A	G	14: 34,722,336	I582V	probably benign	Het
Zfp217	A	G	2: 170,115,149	V643A	probably benign	Het

Other mutations in Fcho1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Fcho1	APN	8	71713523	nonsense	probably null
IGL01291:Fcho1	APN	8	71712547	missense	probably benign	0.08
IGL01473:Fcho1	APN	8	71712138	missense	probably benign	0.03
IGL02086:Fcho1	APN	8	71716800	missense	probably damaging	1.00
IGL02808:Fcho1	APN	8	71712541	missense	possibly damaging	0.89
IGL03146:Fcho1	APN	8	71717430	splice site	probably benign
IGL03267:Fcho1	APN	8	71712299	unclassified	probably benign
ANU05:Fcho1	UTSW	8	71712547	missense	probably benign	0.08
R0003:Fcho1	UTSW	8	71708953	missense	probably damaging	1.00
R0010:Fcho1	UTSW	8	71709999	missense	probably damaging	1.00
R0020:Fcho1	UTSW	8	71716870	missense	probably benign	0.11
R0363:Fcho1	UTSW	8	71717490	missense	probably damaging	1.00
R0457:Fcho1	UTSW	8	71712560	missense	probably benign	0.00
R0485:Fcho1	UTSW	8	71712560	missense	probably benign	0.00
R0501:Fcho1	UTSW	8	71712560	missense	probably benign	0.00
R0502:Fcho1	UTSW	8	71712560	missense	probably benign	0.00
R0551:Fcho1	UTSW	8	71712174	missense	probably benign	0.06
R0583:Fcho1	UTSW	8	71715725	missense	probably damaging	1.00
R0584:Fcho1	UTSW	8	71715725	missense	probably damaging	1.00
R0585:Fcho1	UTSW	8	71715725	missense	probably damaging	1.00
R0612:Fcho1	UTSW	8	71715524	missense	probably damaging	1.00
R0614:Fcho1	UTSW	8	71712560	missense	probably benign	0.00
R0647:Fcho1	UTSW	8	71712560	missense	probably benign	0.00
R0841:Fcho1	UTSW	8	71712560	missense	probably benign	0.00
R0842:Fcho1	UTSW	8	71712560	missense	probably benign	0.00
R1034:Fcho1	UTSW	8	71712560	missense	probably benign	0.00
R1036:Fcho1	UTSW	8	71712560	missense	probably benign	0.00
R1399:Fcho1	UTSW	8	71712560	missense	probably benign	0.00
R1466:Fcho1	UTSW	8	71712560	missense	probably benign	0.00
R1466:Fcho1	UTSW	8	71712560	missense	probably benign	0.00
R1618:Fcho1	UTSW	8	71710403	missense	probably damaging	0.98
R1754:Fcho1	UTSW	8	71711246	missense	probably benign
R1793:Fcho1	UTSW	8	71709022	nonsense	probably null
R2073:Fcho1	UTSW	8	71710489	missense	probably damaging	0.98
R2177:Fcho1	UTSW	8	71712261	missense	probably damaging	1.00
R4072:Fcho1	UTSW	8	71710369	missense	probably damaging	0.99
R4074:Fcho1	UTSW	8	71710369	missense	probably damaging	0.99
R4076:Fcho1	UTSW	8	71710369	missense	probably damaging	0.99
R4606:Fcho1	UTSW	8	71712480	missense	probably benign
R4732:Fcho1	UTSW	8	71716795	missense	probably benign	0.00
R4733:Fcho1	UTSW	8	71716795	missense	probably benign	0.00
R4860:Fcho1	UTSW	8	71710481	missense	probably benign	0.04
R4860:Fcho1	UTSW	8	71710481	missense	probably benign	0.04
R5082:Fcho1	UTSW	8	71717185	missense	possibly damaging	0.69
R5083:Fcho1	UTSW	8	71717176	missense	probably benign	0.00
R5185:Fcho1	UTSW	8	71714956	unclassified	probably benign
R6025:Fcho1	UTSW	8	71712573	splice site	probably null
R6624:Fcho1	UTSW	8	71709371	missense	probably damaging	0.99
R6875:Fcho1	UTSW	8	71714425	intron	probably null
R7069:Fcho1	UTSW	8	71710497	splice site	probably null
R7476:Fcho1	UTSW	8	71713546	missense	probably damaging	1.00
R7512:Fcho1	UTSW	8	71716863	missense	possibly damaging	0.92

Posted On

2014-05-07