Mutagenetix > Incidental Mutation

Incidental Mutation 'R7476:Fcho1'

579497

Institutional Source

Beutler Lab

Gene Symbol

Fcho1

Ensembl Gene

ENSMUSG00000070000

Gene Name

FCH domain only 1

Synonyms

3322402E17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R7476 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71708387-71725716 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 71713546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 347 (D347Y)

Ref Sequence

ENSEMBL: ENSMUSP00000117606 (fasta)

Gene Model

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

AlphaFold

Q8K285

Predicted Effect

probably damaging
Transcript: ENSMUST00000093444
AA Change: D347Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: D347Y

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: ENSMUST00000123425

SMART Domains

Protein: ENSMUSP00000123631
Gene: ENSMUSG00000070000

Domain	Start	End	E-Value	Type
low complexity region	52	70	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125092

SMART Domains

Protein: ENSMUSP00000123554
Gene: ENSMUSG00000070000

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136640

SMART Domains

Protein: ENSMUSP00000119273
Gene: ENSMUSG00000070000

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146100
AA Change: D347Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: D347Y

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

probably benign
Transcript: ENSMUST00000153800

SMART Domains

Protein: ENSMUSP00000116135
Gene: ENSMUSG00000070000

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	C	T	6: 52,179,034	P27S	unknown	Het
Abi3bp	A	T	16: 56,614,746	K602*	probably null	Het
Adam29	G	T	8: 55,873,195	H75N	probably damaging	Het
Ajap1	C	T	4: 153,384,855	E373K	probably damaging	Het
Alg6	C	A	4: 99,743,876	H206N	probably damaging	Het
Alox5	A	T	6: 116,415,433	S376T	probably benign	Het
Arhgap19	A	T	19: 41,782,363	Y321N	probably benign	Het
Brip1	A	G	11: 86,157,808	V236A	probably benign	Het
C1ra	C	T	6: 124,522,699	P615S	probably damaging	Het
Ccdc69	C	T	11: 55,051,198	V161I	possibly damaging	Het
Chil5	G	A	3: 106,020,007	R163C	possibly damaging	Het
Cldnd1	A	G	16: 58,729,544	D30G	probably damaging	Het
Colca2	G	A	9: 51,277,600	A19V	possibly damaging	Het
Csmd1	A	G	8: 15,895,731	C3561R	probably damaging	Het
Daxx	T	G	17: 33,911,281	V90G	probably damaging	Het
Dgkg	T	A	16: 22,622,304		probably benign	Het
Dmrta2	A	G	4: 109,982,025	H323R	probably damaging	Het
Dysf	A	T	6: 84,064,896	T161S	probably benign	Het
Fat1	G	T	8: 45,031,274	R3183L	probably benign	Het
Gm21798	T	C	15: 64,817,706	C5R	unknown	Het
Hmcn1	T	C	1: 150,580,267	R5301G	probably damaging	Het
Hoxd11	T	C	2: 74,684,115	F330L	probably damaging	Het
Lactbl1	A	G	4: 136,637,639	D434G	probably benign	Het
Lgals8	A	T	13: 12,448,481	N191K	probably damaging	Het
Lmod2	T	A	6: 24,597,921	Y13*	probably null	Het
Malrd1	T	C	2: 16,142,304	S1986P	unknown	Het
Map3k9	C	T	12: 81,743,808	D324N	probably damaging	Het
Mcmbp	C	A	7: 128,703,582	K487N	probably damaging	Het
Mrpl4	G	T	9: 21,002,771		probably benign	Het
Nectin2	T	C	7: 19,717,621	D496G	possibly damaging	Het
Nom1	T	C	5: 29,442,536	S590P	probably benign	Het
Noto	T	C	6: 85,425,499	F156L	probably damaging	Het
Nrf1	T	A	6: 30,116,272	D314E	probably damaging	Het
Nup93	T	C	8: 94,303,632	L373P	probably damaging	Het
Olfr1002	T	A	2: 85,648,168	Q51L	not run	Het
Olfr1168	A	T	2: 88,184,966	M30L	probably benign	Het
Olfr1205	A	G	2: 88,831,588	Q157R	probably benign	Het
Olfr1239	T	C	2: 89,417,499	K305E	possibly damaging	Het
Olfr1369-ps1	A	C	13: 21,116,021	I110L	probably benign	Het
Olfr1412	A	C	1: 92,589,264	R311S	probably benign	Het
Pclo	A	T	5: 14,521,331	K243N	probably damaging	Het
Pdgfra	T	A	5: 75,170,603	C290S	probably damaging	Het
Pnlip	G	A	19: 58,679,634		probably null	Het
Ptprm	A	T	17: 66,725,791	H1022Q	probably benign	Het
Rfx2	T	C	17: 56,803,527	D153G	probably benign	Het
Rps6ka2	T	C	17: 7,271,633	F317L	probably damaging	Het
Rtl1	T	A	12: 109,591,105	E1433D	unknown	Het
Sarnp	A	G	10: 128,833,354	T27A	probably benign	Het
Shc3	A	T	13: 51,448,006	M295K	probably benign	Het
Slc1a3	T	A	15: 8,643,084	M304L	probably damaging	Het
Slco1a6	G	T	6: 142,103,001	T351K	possibly damaging	Het
Snrk	A	G	9: 122,157,222	N219S	probably damaging	Het
Spats2	T	A	15: 99,212,141	V473E	probably benign	Het
Stk35	T	C	2: 129,810,725	L382P	probably damaging	Het
Tbx10	T	C	19: 3,999,034	V315A	probably benign	Het
Tdpoz1	A	G	3: 93,670,775	L234P	probably damaging	Het
Ttn	T	G	2: 76,714,145	E32832D	probably benign	Het
Ttn	T	C	2: 76,771,186	Y18678C	probably damaging	Het
Ugt2a2	A	T	5: 87,474,494	M205K	probably damaging	Het
Utrn	C	A	10: 12,640,951	V2300L	probably benign	Het
Vmn1r175	T	C	7: 23,808,422	N260S	probably benign	Het
Vmn1r63	T	A	7: 5,803,001	I211L	probably benign	Het
Vmn1r83	A	G	7: 12,321,615	W172R	possibly damaging	Het
Xirp2	T	C	2: 67,510,634	L1073P	probably benign	Het
Zfp82	A	G	7: 30,056,172	V495A	possibly damaging	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
IGL02021:Fcho1	APN	8	71721275	missense	probably benign	0.06
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
cameo	UTSW	8	71716863	missense	possibly damaging	0.92
Lesser	UTSW	8	71712560	missense	probably benign	0.00
Sidekick	UTSW	8	71715725	missense	probably damaging	1.00
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	splice site	probably null
R7069:Fcho1	UTSW	8	71710497	splice site	probably null
R7512:Fcho1	UTSW	8	71716863	missense	possibly damaging	0.92
R7951:Fcho1	UTSW	8	71712276	missense	probably benign	0.00
R8699:Fcho1	UTSW	8	71709633	missense	possibly damaging	0.63
R8938:Fcho1	UTSW	8	71717146	missense	possibly damaging	0.96
R9090:Fcho1	UTSW	8	71710424	missense	possibly damaging	0.80
R9117:Fcho1	UTSW	8	71712068	missense	possibly damaging	0.87
R9119:Fcho1	UTSW	8	71712068	missense	possibly damaging	0.87
R9271:Fcho1	UTSW	8	71710424	missense	possibly damaging	0.80
R9433:Fcho1	UTSW	8	71716824	missense	probably benign	0.03
R9447:Fcho1	UTSW	8	71717269	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAGCAACACTAGGCGCAG -3'
(R):5'- CAAGACAGATGGACTTTTCTGGGG -3'

Sequencing Primer
(F):5'- AGCTGCATCCAGTTGTACC -3'
(R):5'- GGAAAATCCAGGGCAGCATCC -3'

Posted On

2019-10-07