Mutagenetix > Incidental Mutation

Incidental Mutation 'R1618:Fcho1'

174439

Institutional Source

Beutler Lab

Gene Symbol

Fcho1

Ensembl Gene

ENSMUSG00000070000

Gene Name

FCH domain only 1

Synonyms

3322402E17Rik

MMRRC Submission

039655-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1618 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

71708387-71725716 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71710403 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 661 (S661G)

Ref Sequence

ENSEMBL: ENSMUSP00000117606 (fasta)

Gene Model

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

AlphaFold

Q8K285

Predicted Effect

probably damaging
Transcript: ENSMUST00000093444
AA Change: S661G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: S661G

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

noncoding transcript
Transcript: ENSMUST00000127005

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

noncoding transcript
Transcript: ENSMUST00000141323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143699

Predicted Effect

probably damaging
Transcript: ENSMUST00000146100
AA Change: S661G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: S661G

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: ENSMUST00000149363

Meta Mutation Damage Score

0.1235

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

Validation Efficiency

96% (79/82)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449E01Rik	T	C	14: 105,498,946		noncoding transcript	Het
Abca8b	A	T	11: 109,949,888		probably benign	Het
Akp3	G	A	1: 87,127,871	G547R	unknown	Het
Anln	A	G	9: 22,350,918		probably null	Het
Anpep	T	G	7: 79,835,417	Q607P	probably benign	Het
Arl13b	A	C	16: 62,813,277		probably null	Het
Asxl3	T	C	18: 22,516,987	S678P	probably damaging	Het
Atf6b	C	T	17: 34,647,728	Q58*	probably null	Het
Camsap3	A	G	8: 3,598,740	T20A	probably benign	Het
Cfap46	T	A	7: 139,652,810	M782L	probably benign	Het
Cngb3	T	C	4: 19,364,260	S155P	probably benign	Het
Coro1a	T	C	7: 126,701,547	I162V	probably benign	Het
Cry1	T	A	10: 85,146,454	I343F	probably damaging	Het
Csnk1e	A	T	15: 79,424,850	M292K	probably benign	Het
Cul7	T	A	17: 46,663,190	L1467H	probably damaging	Het
Cul9	A	T	17: 46,525,892	M1069K	probably benign	Het
Cyp2c67	C	A	19: 39,643,264		probably benign	Het
Dnah11	T	C	12: 118,015,465	I2633V	probably damaging	Het
Eif4g3	C	A	4: 138,206,058	D1731E	probably damaging	Het
Epb41l4b	T	C	4: 57,032,204	T592A	probably benign	Het
Evi5	T	C	5: 107,799,118		probably benign	Het
Exo1	T	A	1: 175,901,386	M672K	probably benign	Het
Fnip2	A	G	3: 79,508,168	Y188H	possibly damaging	Het
Foxb1	T	C	9: 69,760,011	D79G	probably damaging	Het
Fyco1	T	C	9: 123,829,281	Y610C	probably damaging	Het
Gm3095	C	A	14: 3,964,571	N96K	probably damaging	Het
Gm3095	T	A	14: 3,964,572	Y97N	probably damaging	Het
Gmfb	A	T	14: 46,811,780	L128*	probably null	Het
Gprc5c	T	A	11: 114,864,394	V299D	possibly damaging	Het
Hsfy2	C	T	1: 56,637,229	V50I	probably benign	Het
Hspa12b	A	C	2: 131,140,929	K236Q	probably benign	Het
Impg2	A	G	16: 56,259,858	Y566C	probably damaging	Het
Itpr3	A	C	17: 27,116,607		probably null	Het
Kprp	G	A	3: 92,825,476	T89I	probably damaging	Het
Lcmt2	T	C	2: 121,138,652	E650G	probably damaging	Het
Lrch1	T	C	14: 74,813,704	D331G	probably damaging	Het
Mroh9	T	A	1: 163,024,541	I860F	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myt1l	A	G	12: 29,827,397	D349G	unknown	Het
Ndufs2	T	C	1: 171,246,121	T31A	probably benign	Het
Ndufs3	A	T	2: 90,898,672	S157T	probably benign	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Noct	T	A	3: 51,247,830	S6R	probably damaging	Het
Npas2	T	A	1: 39,300,727	H119Q	probably damaging	Het
Olfr1076	T	G	2: 86,508,849	L130R	probably damaging	Het
Olfr1206	A	G	2: 88,865,527		probably null	Het
Olfr138	G	A	17: 38,275,666		probably null	Het
Oprl1	A	T	2: 181,718,853	Y207F	probably benign	Het
Palm3	G	T	8: 84,029,662	S601I	possibly damaging	Het
Plscr1	T	A	9: 92,266,495	C163S	probably damaging	Het
Ptprk	A	T	10: 28,493,170	M713L	probably benign	Het
Rdm1	A	G	11: 101,628,391	D72G	possibly damaging	Het
Reln	T	C	5: 22,060,368	D442G	probably benign	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Sbno1	T	C	5: 124,404,216	Y338C	probably damaging	Het
Seh1l	T	G	18: 67,788,736	V222G	probably damaging	Het
Sept12	T	C	16: 4,996,476	K43R	probably damaging	Het
Slc25a18	A	C	6: 120,786,342		probably benign	Het
Slc33a1	T	C	3: 63,948,229	T332A	possibly damaging	Het
Slc35d3	A	G	10: 19,849,163	S316P	probably benign	Het
Spata48	A	G	11: 11,488,641		probably benign	Het
Srrm2	T	A	17: 23,818,932		probably benign	Het
Srsf12	C	T	4: 33,230,974	S156L	probably damaging	Het
Syce3	A	G	15: 89,390,403	M49T	probably benign	Het
Tjp3	T	C	10: 81,276,260		probably benign	Het
Tnks	G	T	8: 34,875,276	N373K	probably damaging	Het
Togaram1	A	G	12: 64,967,073	N366S	possibly damaging	Het
Trpm1	G	A	7: 64,240,535	R962H	probably damaging	Het
Trpm6	A	T	19: 18,877,631	M1885L	possibly damaging	Het
Tshz3	A	G	7: 36,771,796	D1070G	probably damaging	Het
Ush2a	T	C	1: 188,814,224	M3399T	probably benign	Het
Utp15	G	A	13: 98,257,187	T196I	probably benign	Het
Vmn1r168	T	C	7: 23,541,300	I194T	probably benign	Het
Vmn2r73	C	T	7: 85,875,912	W9*	probably null	Het
Wdr17	T	C	8: 54,639,895	Y1076C	probably damaging	Het
Zan	T	C	5: 137,383,830	T5152A	unknown	Het
Zbtb46	A	T	2: 181,424,249	V36E	possibly damaging	Het
Zfp558	T	C	9: 18,469,283	I9M	possibly damaging	Het
Zscan2	T	A	7: 80,875,786	Y418*	probably null	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
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
R7476:Fcho1	UTSW	8	71713546	missense	probably damaging	1.00
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'- CAGTATCATACGCAGTACCGCGAG -3'
(R):5'- TGCAAGTATAACCAGGAGGGTCCAG -3'

Sequencing Primer
(F):5'- ccagagaggaacagccac -3'
(R):5'- GAGGGTCCAGTGCCAAG -3'

Posted On

2014-04-24