Mutagenetix > Incidental Mutation

Incidental Mutation 'R2177:Fcho1'

236945

Institutional Source

Beutler Lab

Gene Symbol

Fcho1

Ensembl Gene

ENSMUSG00000070000

Gene Name

FCH domain only 1

Synonyms

3322402E17Rik

MMRRC Submission

040179-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.264) question?

Stock #

R2177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71708387-71725716 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71712261 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 459 (S459P)

Ref Sequence

ENSEMBL: ENSMUSP00000117606 (fasta)

Gene Model

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

AlphaFold

Q8K285

Predicted Effect

probably damaging
Transcript: ENSMUST00000093444
AA Change: S459P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: S459P

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

noncoding transcript
Transcript: ENSMUST00000143699

Predicted Effect

probably damaging
Transcript: ENSMUST00000146100
AA Change: S459P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: S459P

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: ENSMUST00000152742

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

0.0961

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 87,972,453	N356K	probably damaging	Het
Acap2	C	T	16: 31,133,528		probably null	Het
Adamts19	T	C	18: 58,954,554	L552P	possibly damaging	Het
Adamts2	T	A	11: 50,777,228	M539K	probably damaging	Het
Aplp1	A	T	7: 30,442,521	C210*	probably null	Het
Apoa1	A	T	9: 46,230,073	K156*	probably null	Het
AW551984	G	A	9: 39,599,815	R159C	probably benign	Het
Bok	C	T	1: 93,695,065	Q112*	probably null	Het
Cfap57	T	G	4: 118,606,688	I323L	probably benign	Het
Cfap69	T	A	5: 5,625,803	E270D	probably damaging	Het
Ch25h	G	T	19: 34,474,697	L144M	probably damaging	Het
Clcn6	T	A	4: 148,014,600	I429F	possibly damaging	Het
Cpb1	T	A	3: 20,266,447	T115S	probably benign	Het
Csf1r	T	A	18: 61,114,943		probably benign	Het
Ddx6	A	G	9: 44,627,731	T279A	probably damaging	Het
Dnah8	A	G	17: 30,653,393	H452R	probably benign	Het
Dscam	T	A	16: 96,610,324	D1784V	probably damaging	Het
Exo1	T	A	1: 175,882,890		probably null	Het
Fxyd4	C	T	6: 117,934,432	A56T	probably damaging	Het
Gbf1	T	C	19: 46,265,670	S599P	probably benign	Het
Iqce	T	C	5: 140,691,593		probably benign	Het
Kat2a	A	G	11: 100,710,822	F256L	probably damaging	Het
Klk1b1	G	T	7: 43,969,271	R24L	possibly damaging	Het
Krtap16-1	A	G	11: 99,986,449	V43A	probably damaging	Het
Maea	C	G	5: 33,371,690	Q326E	probably benign	Het
Man1a2	A	T	3: 100,632,531	I308N	probably damaging	Het
Marf1	G	T	16: 14,152,607	R83S	probably benign	Het
Me3	A	C	7: 89,633,070	T54P	probably benign	Het
Mme	A	T	3: 63,301,005	I63L	probably benign	Het
Mmel1	A	G	4: 154,894,103	N664S	probably damaging	Het
Mrgprb2	A	G	7: 48,552,380	V199A	probably benign	Het
Mrpl36	T	A	13: 73,331,469	F33I	probably benign	Het
Nlrp4e	A	T	7: 23,355,261	T947S	probably benign	Het
Olfr297	G	A	7: 86,527,662	V302I	probably benign	Het
Olfr32	T	A	2: 90,138,464	H225L	possibly damaging	Het
Olfr922	A	T	9: 38,816,186	I228F	possibly damaging	Het
Parp4	A	T	14: 56,659,289	R1923S	unknown	Het
Pcm1	T	C	8: 41,275,965	V658A	probably benign	Het
Pkhd1l1	A	G	15: 44,459,395	S26G	probably benign	Het
Prom1	A	T	5: 44,026,739	H433Q	possibly damaging	Het
Rab7	T	C	6: 88,005,081	D104G	probably damaging	Het
Rabgap1l	A	G	1: 160,724,062	V282A	possibly damaging	Het
Rdh13	T	C	7: 4,427,667	E264G	possibly damaging	Het
Rock1	C	G	18: 10,070,263	R1270T	probably benign	Het
Sdhaf4	C	T	1: 23,996,289	G93R	probably damaging	Het
Sec24a	T	C	11: 51,704,401	T910A	probably benign	Het
Sesn1	A	G	10: 41,903,782	H345R	possibly damaging	Het
Snx4	T	A	16: 33,286,058		probably null	Het
Tchh	A	G	3: 93,444,132	E293G	unknown	Het
Tmem2	T	C	19: 21,811,785	S528P	possibly damaging	Het
Ulk2	T	A	11: 61,791,509	T727S	probably benign	Het
Usp53	T	C	3: 122,936,057	E756G	probably damaging	Het
Vmn2r68	G	A	7: 85,221,915	A720V	probably benign	Het
Vmn2r79	A	G	7: 86,996,631	N56S	possibly damaging	Het
Washc5	A	T	15: 59,363,269	Y263*	probably null	Het
Zfp119b	A	T	17: 55,938,639	C516S	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
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'- ATGAAGGCCTCCATCTGTGC -3'
(R):5'- CAGAAGGCCATATTGGGTGG -3'

Sequencing Primer
(F):5'- GGGTTCCAGCTTACCTGCAC -3'
(R):5'- AGGCCATATTGGGTGGGGATTTG -3'

Posted On

2014-10-02