Mutagenetix > Incidental Mutation

Incidental Mutation 'R8938:Fcho1'

680788

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?

Possibly non essential (E-score: 0.320) question?

Stock #

R8938 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71708387-71725716 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 71717146 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 111 (K111T)

Ref Sequence

ENSEMBL: ENSMUSP00000119273 (fasta)

Gene Model

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

AlphaFold

Q8K285

Predicted Effect

probably benign
Transcript: ENSMUST00000093444
AA Change: K111T

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: K111T

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

possibly damaging
Transcript: ENSMUST00000136640
AA Change: K111T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119273
Gene: ENSMUSG00000070000
AA Change: K111T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146100
AA Change: K111T

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: K111T

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
AA Change: K111T

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116135
Gene: ENSMUSG00000070000
AA Change: K111T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	G	4: 73,943,187	S59P	probably damaging	Het
Abcc8	G	T	7: 46,166,994	H241N		Het
Acsm1	T	C	7: 119,659,162	S493P	probably damaging	Het
Agtr1a	T	C	13: 30,381,066	I38T	probably damaging	Het
Ahnak	T	C	19: 9,011,735	I3461T	probably benign	Het
Bbox1	T	A	2: 110,270,184	T223S	probably benign	Het
BC055324	C	T	1: 163,961,972	V665I	probably benign	Het
Brip1	T	C	11: 86,148,401	K436E	possibly damaging	Het
Cdhr1	T	A	14: 37,087,448	T299S	probably benign	Het
Cr2	T	C	1: 195,171,116	D18G	probably damaging	Het
Cyp51	T	C	5: 4,100,202	I174V	probably benign	Het
Dnah2	A	T	11: 69,437,928	Y3290N	probably damaging	Het
Gli2	A	T	1: 118,836,205	D1405E	probably damaging	Het
Gsg1l2	A	G	11: 67,789,573	H278R	possibly damaging	Het
H2-K1	T	C	17: 33,997,320	H284R	probably damaging	Het
Ighv1-62-1	C	T	12: 115,387,115	W5*	probably null	Het
Ighv1-81	T	A	12: 115,920,368	T88S	probably benign	Het
Igkv4-57	T	A	6: 69,576,272	M19L	probably benign	Het
Klk1b3	G	T	7: 44,200,305	W38L	probably damaging	Het
Lama3	T	C	18: 12,556,705	S2835P	probably damaging	Het
Lhx8	T	C	3: 154,322,387	N145S	possibly damaging	Het
Mfsd6	A	T	1: 52,709,295	L137H	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446		probably benign	Het
Mpst	A	T	15: 78,410,070	M1L	possibly damaging	Het
Mrpl2	T	A	17: 46,646,312		probably benign	Het
Mybpc3	T	C	2: 91,123,949	V224A	probably damaging	Het
Nol4l	T	C	2: 153,420,731	D63G	probably damaging	Het
Olfr957	A	T	9: 39,511,614	Y35*	probably null	Het
Patz1	C	T	11: 3,290,660	T16I	probably damaging	Het
Pcdha3	A	G	18: 36,947,101	I299V	probably benign	Het
Pcdhb18	G	T	18: 37,490,484	R289L	probably benign	Het
Pcdhga6	A	T	18: 37,708,509	R427S	probably benign	Het
Pcdhga8	T	A	18: 37,726,902	V337E	probably damaging	Het
Pik3c2b	T	A	1: 133,088,330	W877R	probably benign	Het
Plcg2	T	C	8: 117,504,375		probably null	Het
Prp2	C	A	6: 132,600,618	H289Q	unknown	Het
Rac2	A	G	15: 78,561,912	L192P	probably damaging	Het
Rfx4	T	A	10: 84,840,072	Y51N	probably damaging	Het
Rptn	A	T	3: 93,395,025	Q16L	possibly damaging	Het
Ryr1	C	T	7: 29,101,933	G802D	probably damaging	Het
Shroom3	T	C	5: 92,943,071	S1146P	probably damaging	Het
Stam	T	C	2: 14,129,173		probably null	Het
Vmn2r100	A	G	17: 19,531,563	M623V	probably benign	Het
Wdr90	G	A	17: 25,857,172	R104C		Het
Xkr7	T	C	2: 153,032,213	F67L	probably damaging	Het
Zfp451	A	T	1: 33,802,982		probably benign	Het
Zfp609	C	T	9: 65,703,279	A801T	possibly damaging	Het
Zfp974	A	T	7: 27,910,886	H471Q	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
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
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'- TCCTCCTTACACTGTGGTGG -3'
(R):5'- GGTATCAGATGAGCTGGACTC -3'

Sequencing Primer
(F):5'- CTCCTTACACTGTGGTGGGATGAG -3'
(R):5'- AGATGAGCTGGACTCTGCCTG -3'

Posted On

2021-08-31