Mutagenetix > Incidental Mutation

Incidental Mutation 'R1399:Fcho1'

160289

Institutional Source

Beutler Lab

Gene Symbol

Fcho1

Ensembl Gene

ENSMUSG00000070000

Gene Name

FCH domain only 1

Synonyms

3322402E17Rik

MMRRC Submission

039461-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R1399 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72161031-72178360 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72165204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 418 (A418T)

Ref Sequence

ENSEMBL: ENSMUSP00000117606 (fasta)

Gene Model

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

AlphaFold

Q8K285

Predicted Effect

probably benign
Transcript: ENSMUST00000093444
AA Change: A418T

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

SMART Domains

Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: A418T

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

noncoding transcript
Transcript: ENSMUST00000126455

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

probably benign
Transcript: ENSMUST00000146100
AA Change: A418T

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

SMART Domains

Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: A418T

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

noncoding transcript
Transcript: ENSMUST00000143699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149363

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

Meta Mutation Damage Score

0.0765

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	T	C	10: 80,177,042 (GRCm39)	S469G	probably damaging	Het
Ccdc168	G	A	1: 44,100,471 (GRCm39)	T209I	possibly damaging	Het
Cep170	C	T	1: 176,585,969 (GRCm39)	E608K	probably damaging	Het
Csnk1g3	T	C	18: 54,028,982 (GRCm39)	V45A	probably damaging	Het
Eng	C	A	2: 32,563,334 (GRCm39)	Q297K	probably damaging	Het
G6pd2	G	A	5: 61,967,361 (GRCm39)	D379N	probably benign	Het
Mrc1	C	T	2: 14,284,736 (GRCm39)	T575M	probably damaging	Het
Noct	C	T	3: 51,157,897 (GRCm39)		probably null	Het
Phka1	A	G	X: 101,660,964 (GRCm39)	S226P	probably damaging	Het
Pias4	T	C	10: 80,991,509 (GRCm39)	Y346C	probably damaging	Het
Ptger4	C	T	15: 5,264,412 (GRCm39)	E415K	possibly damaging	Het
Pwwp4b	A	G	X: 72,182,235 (GRCm39)	L287P	probably damaging	Het
Rb1cc1	G	A	1: 6,320,042 (GRCm39)	V1154I	probably benign	Het
Spopfm1	A	G	3: 94,173,102 (GRCm39)	M37V	probably benign	Het
Vmn2r121	A	C	X: 123,039,545 (GRCm39)	V541G	possibly damaging	Het
Zfp92	A	T	X: 72,466,401 (GRCm39)	T465S	probably benign	Het
Zfp92	A	G	X: 72,465,736 (GRCm39)	H243R	probably damaging	Het

Other mutations in Fcho1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Fcho1	APN	8	72,166,167 (GRCm39)	nonsense	probably null
IGL01291:Fcho1	APN	8	72,165,191 (GRCm39)	missense	probably benign	0.08
IGL01473:Fcho1	APN	8	72,164,782 (GRCm39)	missense	probably benign	0.03
IGL02021:Fcho1	APN	8	72,173,919 (GRCm39)	missense	probably benign	0.06
IGL02086:Fcho1	APN	8	72,169,444 (GRCm39)	missense	probably damaging	1.00
IGL02808:Fcho1	APN	8	72,165,185 (GRCm39)	missense	possibly damaging	0.89
IGL03146:Fcho1	APN	8	72,170,074 (GRCm39)	splice site	probably benign
IGL03267:Fcho1	APN	8	72,164,943 (GRCm39)	unclassified	probably benign
cameo	UTSW	8	72,169,507 (GRCm39)	missense	possibly damaging	0.92
Lesser	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
Sidekick	UTSW	8	72,168,369 (GRCm39)	missense	probably damaging	1.00
ANU05:Fcho1	UTSW	8	72,165,191 (GRCm39)	missense	probably benign	0.08
R0003:Fcho1	UTSW	8	72,161,597 (GRCm39)	missense	probably damaging	1.00
R0010:Fcho1	UTSW	8	72,162,643 (GRCm39)	missense	probably damaging	1.00
R0020:Fcho1	UTSW	8	72,169,514 (GRCm39)	missense	probably benign	0.11
R0363:Fcho1	UTSW	8	72,170,134 (GRCm39)	missense	probably damaging	1.00
R0457:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0485:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0501:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0502:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0551:Fcho1	UTSW	8	72,164,818 (GRCm39)	missense	probably benign	0.06
R0583:Fcho1	UTSW	8	72,168,369 (GRCm39)	missense	probably damaging	1.00
R0584:Fcho1	UTSW	8	72,168,369 (GRCm39)	missense	probably damaging	1.00
R0585:Fcho1	UTSW	8	72,168,369 (GRCm39)	missense	probably damaging	1.00
R0612:Fcho1	UTSW	8	72,168,168 (GRCm39)	missense	probably damaging	1.00
R0614:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0647:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0841:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0842:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1034:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1036:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1466:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1466:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1618:Fcho1	UTSW	8	72,163,047 (GRCm39)	missense	probably damaging	0.98
R1754:Fcho1	UTSW	8	72,163,890 (GRCm39)	missense	probably benign
R1793:Fcho1	UTSW	8	72,161,666 (GRCm39)	nonsense	probably null
R2073:Fcho1	UTSW	8	72,163,133 (GRCm39)	missense	probably damaging	0.98
R2177:Fcho1	UTSW	8	72,164,905 (GRCm39)	missense	probably damaging	1.00
R4072:Fcho1	UTSW	8	72,163,013 (GRCm39)	missense	probably damaging	0.99
R4074:Fcho1	UTSW	8	72,163,013 (GRCm39)	missense	probably damaging	0.99
R4076:Fcho1	UTSW	8	72,163,013 (GRCm39)	missense	probably damaging	0.99
R4606:Fcho1	UTSW	8	72,165,124 (GRCm39)	missense	probably benign
R4732:Fcho1	UTSW	8	72,169,439 (GRCm39)	missense	probably benign	0.00
R4733:Fcho1	UTSW	8	72,169,439 (GRCm39)	missense	probably benign	0.00
R4860:Fcho1	UTSW	8	72,163,125 (GRCm39)	missense	probably benign	0.04
R4860:Fcho1	UTSW	8	72,163,125 (GRCm39)	missense	probably benign	0.04
R5082:Fcho1	UTSW	8	72,169,829 (GRCm39)	missense	possibly damaging	0.69
R5083:Fcho1	UTSW	8	72,169,820 (GRCm39)	missense	probably benign	0.00
R5185:Fcho1	UTSW	8	72,167,600 (GRCm39)	unclassified	probably benign
R6025:Fcho1	UTSW	8	72,165,217 (GRCm39)	splice site	probably null
R6624:Fcho1	UTSW	8	72,162,015 (GRCm39)	missense	probably damaging	0.99
R6875:Fcho1	UTSW	8	72,167,069 (GRCm39)	splice site	probably null
R7069:Fcho1	UTSW	8	72,163,141 (GRCm39)	splice site	probably null
R7476:Fcho1	UTSW	8	72,166,190 (GRCm39)	missense	probably damaging	1.00
R7512:Fcho1	UTSW	8	72,169,507 (GRCm39)	missense	possibly damaging	0.92
R7951:Fcho1	UTSW	8	72,164,920 (GRCm39)	missense	probably benign	0.00
R8699:Fcho1	UTSW	8	72,162,277 (GRCm39)	missense	possibly damaging	0.63
R8938:Fcho1	UTSW	8	72,169,790 (GRCm39)	missense	possibly damaging	0.96
R9090:Fcho1	UTSW	8	72,163,068 (GRCm39)	missense	possibly damaging	0.80
R9117:Fcho1	UTSW	8	72,164,712 (GRCm39)	missense	possibly damaging	0.87
R9119:Fcho1	UTSW	8	72,164,712 (GRCm39)	missense	possibly damaging	0.87
R9271:Fcho1	UTSW	8	72,163,068 (GRCm39)	missense	possibly damaging	0.80
R9433:Fcho1	UTSW	8	72,169,468 (GRCm39)	missense	probably benign	0.03
R9447:Fcho1	UTSW	8	72,169,913 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCTAGTTGTCACCGCCAATGTC -3'
(R):5'- GTCAAAATTCTGGATGCGCGGATG -3'

Sequencing Primer
(F):5'- ACCGCCAATGTCCGCAG -3'
(R):5'- GATGCGCGGATGAGTGG -3'

Posted On

2014-03-14