Mutagenetix > Incidental Mutation

Incidental Mutation 'R9117:Fcho1'

692596

Institutional Source

Beutler Lab

Gene Symbol

Fcho1

Ensembl Gene

ENSMUSG00000070000

Gene Name

FCH domain only 1

Synonyms

3322402E17Rik

Accession Numbers

Is this an essential gene?

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

Stock #

R9117 (G1)

Quality Score

202.009

Status

Validated

Chromosome

Chromosomal Location

71708387-71725716 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71712068 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 523 (G523E)

Ref Sequence

ENSEMBL: ENSMUSP00000117606 (fasta)

Gene Model

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

AlphaFold

Q8K285

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093444
AA Change: G523E

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: G523E

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: ENSMUST00000136640

SMART Domains

Protein: ENSMUSP00000119273
Gene: ENSMUSG00000070000

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146100
AA Change: G523E

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: G523E

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 35,893,071	S185T	probably benign	Het
Agfg1	T	G	1: 82,894,495	F516L	possibly damaging	Het
Akap5	T	A	12: 76,327,818	M8K	possibly damaging	Het
Aldh1l2	C	T	10: 83,506,681	V535I	probably benign	Het
Atg3	T	C	16: 45,186,201	V277A	probably damaging	Het
Bloc1s6	C	T	2: 122,746,614	P168L	probably damaging	Het
Ccdc173	G	T	2: 69,781,759	S175*	probably null	Het
Ccr7	A	G	11: 99,145,260	Y279H	probably damaging	Het
Clint1	A	G	11: 45,890,735	T211A	probably damaging	Het
Dchs2	T	G	3: 83,269,355	D873E	probably benign	Het
Dhx30	A	G	9: 110,097,096	L149P	probably damaging	Het
Dnah1	T	C	14: 31,311,624		probably benign	Het
Dtx1	A	G	5: 120,710,291	V8A	probably benign	Het
Enpp3	T	A	10: 24,826,180	K91N	possibly damaging	Het
Ffar2	T	C	7: 30,819,191	E308G	probably damaging	Het
Foxb2	T	C	19: 16,873,394	K83E	unknown	Het
Git2	A	G	5: 114,749,560		probably null	Het
Gm10024	T	C	10: 77,711,505	S17P	unknown	Het
Greb1l	A	T	18: 10,542,422	Y1339F	probably benign	Het
Grhl2	T	A	15: 37,270,668	D33E	probably damaging	Het
Herc4	C	A	10: 63,290,521	L551I	probably benign	Het
Igfn1	T	A	1: 135,974,790	T390S	probably benign	Het
Ighv3-1	T	A	12: 113,964,469	H90L	probably benign	Het
Jag2	G	T	12: 112,913,659	Y697*	probably null	Het
Kif1c	T	C	11: 70,704,972	V168A	probably damaging	Het
Lipn	T	C	19: 34,068,641	W5R	probably damaging	Het
Mavs	G	A	2: 131,245,325	A248T	probably benign	Het
Megf10	G	A	18: 57,259,701	G390D	probably damaging	Het
Mib1	A	G	18: 10,793,023	H653R	probably benign	Het
Mrps9	T	G	1: 42,903,377	S332A	probably benign	Het
Muc5b	T	C	7: 141,869,333	C4498R	possibly damaging	Het
Myo15b	T	A	11: 115,887,917	I1157N	possibly damaging	Het
Myo9b	C	T	8: 71,347,807	T1002M	probably benign	Het
Nav3	T	A	10: 109,684,239	M2328L	probably benign	Het
Olfr186	T	C	16: 59,027,290	I206V	probably benign	Het
Olfr917	T	A	9: 38,665,810	E11D	probably benign	Het
Pawr	T	C	10: 108,333,279	S155P	probably damaging	Het
Pcdhb15	G	T	18: 37,475,037	V441F	probably damaging	Het
Plekhg3	A	G	12: 76,578,131	D1250G	probably benign	Het
Ptprs	T	A	17: 56,435,853	M430L	possibly damaging	Het
Raly	T	A	2: 154,861,865	S119T	probably damaging	Het
Serpinb6a	A	T	13: 33,925,429	S128T	probably benign	Het
Sirt3	C	T	7: 140,869,449		probably benign	Het
Slc22a7	A	G	17: 46,437,103	F210L	probably damaging	Het
Speg	G	T	1: 75,387,800	S275I	probably damaging	Het
Stk32c	C	T	7: 139,188,225	D47N	unknown	Het
Stra6	T	G	9: 58,152,539	S594R	probably benign	Het
Sun2	T	C	15: 79,730,316	H295R	probably benign	Het
Syne1	T	C	10: 5,103,667	Q7470R	probably damaging	Het
Syt14	A	T	1: 192,983,818	H259Q	unknown	Het
Toporsl	A	T	4: 52,609,943		probably benign	Het
Trim50	A	G	5: 135,353,683	S130G	possibly damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Wdr18	T	C	10: 79,965,320	V189A	probably benign	Het
Zfat	C	A	15: 68,187,069	A206S	probably 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
R8938:Fcho1	UTSW	8	71717146	missense	possibly damaging	0.96
R9090:Fcho1	UTSW	8	71710424	missense	possibly damaging	0.80
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'- GACATCTCCATCCATTGGTGGC -3'
(R):5'- TCCTCATCTCCGGAGAATGTG -3'

Sequencing Primer
(F):5'- ATCCATTGGTGGCCACAGGATC -3'
(R):5'- CTCCGGAGAATGTGGAGGACTC -3'

Posted On

2021-12-30