Mutagenetix > Incidental Mutations

Incidental Mutation 'R6624:Fcho1'

524671

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: 0.246) question?

Stock #

R6624 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71708387-71725716 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 71709371 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 798 (K798T)

Ref Sequence

ENSEMBL: ENSMUSP00000117606 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000093444
AA Change: K798T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: K798T

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: K798T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: K798T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212029

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 69,904,468	E852K	possibly damaging	Het
Cib3	T	A	8: 72,205,738	I96F	probably damaging	Het
Ckap5	C	T	2: 91,577,651	P841S	probably benign	Het
Col25a1	A	G	3: 130,566,451		probably null	Het
Col27a1	A	T	4: 63,225,011	H312L	probably benign	Het
Cyp2j7	A	G	4: 96,227,618	I197T	probably damaging	Het
Cyp4f40	C	T	17: 32,671,180	R275C	possibly damaging	Het
Eif3l	T	C	15: 79,089,929	S515P	probably damaging	Het
Enpp1	A	T	10: 24,669,755	Y262*	probably null	Het
Ergic3	T	A	2: 156,016,898	M286K	probably damaging	Het
Ern2	C	T	7: 122,177,783	A305T	probably benign	Het
Fam187b	A	G	7: 30,977,187	I40M	probably benign	Het
Iah1	C	T	12: 21,319,784	Q100*	probably null	Het
Jak2	T	C	19: 29,282,589	I296T	probably damaging	Het
Lats2	A	G	14: 57,694,312		probably null	Het
Lrriq4	A	T	3: 30,650,780	H319L	probably benign	Het
Man2b1	A	G	8: 85,096,853	N939D	probably benign	Het
Meis1	T	C	11: 19,016,215	T53A	probably benign	Het
Nadsyn1	C	T	7: 143,805,973	E421K	probably benign	Het
Olfr512	T	C	7: 108,713,536	I49T	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pmfbp1	T	C	8: 109,530,190	S509P	possibly damaging	Het
Pou4f3	A	T	18: 42,395,642	I217F	probably damaging	Het
Ppara	C	A	15: 85,791,036	N235K	probably benign	Het
Prrg2	T	C	7: 45,059,986	Y73C	probably damaging	Het
Sdccag8	T	A	1: 176,874,812		probably null	Het
Thap12	T	G	7: 98,715,586	Y320*	probably null	Het
Trpm6	A	G	19: 18,796,439		probably null	Het
Trpm6	T	A	19: 18,889,020	C1978S	probably damaging	Het
Usp33	A	G	3: 152,381,798	Y708C	probably damaging	Het
Wdr3	G	A	3: 100,144,326	T669M	probably damaging	Het
Zdbf2	T	C	1: 63,303,914	I484T	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTCAGCCTCGACTAAATCAGAC -3'
(R):5'- TGGGAACATACAAGCCAGCC -3'

Sequencing Primer
(F):5'- CTTTGTCACAGGCTCAGGATACAG -3'
(R):5'- CCAACAAGAGCCCTGGGATAG -3'

Posted On

2018-06-22