Mutagenetix > Incidental Mutation

Incidental Mutation 'R4079:Fcho2'

316773

Institutional Source

Beutler Lab

Gene Symbol

Fcho2

Ensembl Gene

ENSMUSG00000041685

Gene Name

FCH domain only 2

Synonyms

MMRRC Submission

040976-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98723403-98815449 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98755612 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 318 (V318A)

Ref Sequence

ENSEMBL: ENSMUSP00000105030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040340] [ENSMUST00000099277] [ENSMUST00000109403] [ENSMUST00000179563] [ENSMUST00000224992]

AlphaFold

Q3UQN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000040340
AA Change: V318A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: V318A

Domain	Start	End	E-Value	Type
FCH	8	94	1.74e-19	SMART
low complexity region	341	351	N/A	INTRINSIC
low complexity region	433	456	N/A	INTRINSIC
low complexity region	485	501	N/A	INTRINSIC
low complexity region	503	520	N/A	INTRINSIC
Pfam:muHD	542	808	2.5e-71	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000099277

SMART Domains

Protein: ENSMUSP00000096883
Gene: ENSMUSG00000041685

Domain	Start	End	E-Value	Type
FCH	8	94	1.74e-19	SMART
low complexity region	342	352	N/A	INTRINSIC
low complexity region	434	457	N/A	INTRINSIC
low complexity region	486	502	N/A	INTRINSIC
low complexity region	504	521	N/A	INTRINSIC
Pfam:muHD	543	803	4.7e-68	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109403
AA Change: V318A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105030
Gene: ENSMUSG00000041685
AA Change: V318A

Domain	Start	End	E-Value	Type
FCH	8	94	1.74e-19	SMART
low complexity region	341	351	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179563
AA Change: V318A

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137422
Gene: ENSMUSG00000041685
AA Change: V318A

Domain	Start	End	E-Value	Type
FCH	8	94	1.74e-19	SMART
low complexity region	341	351	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000224992
AA Change: V318A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225094

Meta Mutation Damage Score

0.0963

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	C	G	4: 126,353,680		probably null	Het
Ankfy1	C	A	11: 72,690,009		probably benign	Het
Ap4b1	T	A	3: 103,813,378	N121K	probably damaging	Het
Arhgef12	T	C	9: 42,975,292	M1131V	probably damaging	Het
Arl5c	A	T	11: 97,993,501	I88N	probably damaging	Het
Armc9	A	T	1: 86,213,129		probably benign	Het
Bnc1	T	C	7: 81,973,760	E573G	probably damaging	Het
Btaf1	A	G	19: 36,986,479	T817A	probably benign	Het
C3	C	T	17: 57,205,303	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,341,669	V293A	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cbfa2t3	A	G	8: 122,647,695		probably null	Het
Ccdc18	C	T	5: 108,158,528	Q270*	probably null	Het
Cdc45	A	T	16: 18,811,360	V19D	probably damaging	Het
Cfap57	C	A	4: 118,598,997	S500I	probably benign	Het
Cnga3	A	T	1: 37,241,865	Q47L	possibly damaging	Het
Corin	T	C	5: 72,503,883	D89G	probably benign	Het
Cox16	A	T	12: 81,474,335		probably benign	Het
Cyp2a4	A	G	7: 26,307,366	N50S	probably benign	Het
Diaph1	T	A	18: 37,853,583	E1116D	possibly damaging	Het
Dlg5	T	C	14: 24,148,260	D1535G	possibly damaging	Het
Enpp1	A	G	10: 24,669,007		probably null	Het
F13b	T	A	1: 139,501,770	F9I	unknown	Het
Fcer1a	C	T	1: 173,225,353	C36Y	probably damaging	Het
Fzd9	A	G	5: 135,249,636	V465A	probably benign	Het
Gm10354	A	T	5: 14,977,649	L71Q	probably damaging	Het
Hbs1l	T	C	10: 21,352,602	V493A	probably damaging	Het
Hgs	T	A	11: 120,483,048	S723T	probably benign	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Kpna7	A	G	5: 145,005,927	I83T	possibly damaging	Het
Llgl1	C	A	11: 60,710,284		probably null	Het
Lrig3	A	C	10: 126,009,787	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,096,037	I261T	possibly damaging	Het
Mfn1	T	G	3: 32,542,849	L152W	probably damaging	Het
Mog	A	G	17: 37,012,410	F212S	probably damaging	Het
Mpeg1	A	G	19: 12,462,270	N364S	probably damaging	Het
Mtmr3	C	T	11: 4,491,057	R531Q	probably damaging	Het
Mx2	A	G	16: 97,556,036	N443S	probably damaging	Het
Nfatc3	T	C	8: 106,079,491	Y323H	probably damaging	Het
Nup188	G	A	2: 30,309,878	D305N	probably damaging	Het
Obscn	A	G	11: 59,038,363	V6145A	probably benign	Het
Olfr1037	A	G	2: 86,085,312	V155A	possibly damaging	Het
Olfr686	A	T	7: 105,204,021	H107Q	probably damaging	Het
Patl1	C	T	19: 11,931,630	A467V	probably damaging	Het
Pdss2	A	T	10: 43,402,522	M342L	probably benign	Het
Phax	A	G	18: 56,575,979	N183S	possibly damaging	Het
Pnck	A	T	X: 73,658,155	V93E	probably damaging	Het
Prol1	A	G	5: 88,328,216	N155S	unknown	Het
Ptprk	G	A	10: 28,263,512	V78I	probably benign	Het
Ptpru	A	T	4: 131,798,710		probably null	Het
Ptprv	A	G	1: 135,110,430		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,757	N233S	probably damaging	Het
Rapgefl1	A	G	11: 98,849,977	T552A	probably benign	Het
Rasgrp1	A	G	2: 117,285,029	S693P	probably benign	Het
Scyl2	A	T	10: 89,640,596	M889K	probably benign	Het
Serpina3a	C	T	12: 104,119,675	Q320*	probably null	Het
Slc12a1	A	T	2: 125,200,623	N733I	possibly damaging	Het
Snap47	C	T	11: 59,428,551	V254I	probably benign	Het
St6galnac2	A	T	11: 116,681,898	L244Q	possibly damaging	Het
Syce1	C	A	7: 140,779,896	L83F	probably damaging	Het
Tjp2	A	T	19: 24,108,818	V780E	possibly damaging	Het
Tns1	G	A	1: 73,995,308	R192C	probably damaging	Het
Trav6-3	T	C	14: 53,430,080	L3P	possibly damaging	Het
Ung	G	T	5: 114,130,623		probably null	Het
Usp32	T	A	11: 85,039,229	Y574F	probably damaging	Het

Other mutations in Fcho2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Fcho2	APN	13	98789807	missense	probably benign
IGL02058:Fcho2	APN	13	98730906	missense	probably damaging	0.98
IGL02516:Fcho2	APN	13	98730212	missense	probably benign	0.08
IGL02715:Fcho2	APN	13	98796335	missense	probably damaging	1.00
IGL03243:Fcho2	APN	13	98777384	splice site	probably benign
R0044:Fcho2	UTSW	13	98755544	intron	probably benign
R0087:Fcho2	UTSW	13	98735086	missense	probably benign	0.00
R0472:Fcho2	UTSW	13	98748267	missense	probably benign	0.01
R0501:Fcho2	UTSW	13	98764515	missense	possibly damaging	0.92
R1022:Fcho2	UTSW	13	98732659	missense	probably damaging	1.00
R1024:Fcho2	UTSW	13	98732659	missense	probably damaging	1.00
R1130:Fcho2	UTSW	13	98748289	missense	probably damaging	1.00
R1495:Fcho2	UTSW	13	98749850	critical splice donor site	probably null
R1593:Fcho2	UTSW	13	98784807	missense	possibly damaging	0.92
R1608:Fcho2	UTSW	13	98726198	missense	probably benign	0.01
R1638:Fcho2	UTSW	13	98745895	missense	possibly damaging	0.83
R1643:Fcho2	UTSW	13	98784816	missense	probably benign	0.00
R2125:Fcho2	UTSW	13	98775898	missense	possibly damaging	0.83
R3117:Fcho2	UTSW	13	98777438	missense	probably damaging	1.00
R3968:Fcho2	UTSW	13	98735056	missense	probably benign	0.06
R3970:Fcho2	UTSW	13	98735056	missense	probably benign	0.06
R4816:Fcho2	UTSW	13	98806366	missense	probably damaging	1.00
R5338:Fcho2	UTSW	13	98730891	missense	probably damaging	1.00
R5437:Fcho2	UTSW	13	98777474	missense	possibly damaging	0.95
R5457:Fcho2	UTSW	13	98789767	missense	probably damaging	0.99
R5733:Fcho2	UTSW	13	98789802	missense	probably damaging	0.99
R6136:Fcho2	UTSW	13	98789767	missense	probably damaging	0.99
R6186:Fcho2	UTSW	13	98815083	missense	probably benign	0.01
R6365:Fcho2	UTSW	13	98789859	missense	probably benign	0.20
R7041:Fcho2	UTSW	13	98784826	missense	possibly damaging	0.72
R7168:Fcho2	UTSW	13	98789463	missense	probably benign
R7218:Fcho2	UTSW	13	98753613	splice site	probably null
R7243:Fcho2	UTSW	13	98755216	missense	possibly damaging	0.94
R7533:Fcho2	UTSW	13	98784799	missense	probably benign	0.00
R7757:Fcho2	UTSW	13	98764503	critical splice donor site	probably null
R7904:Fcho2	UTSW	13	98796363	missense	possibly damaging	0.54
R7993:Fcho2	UTSW	13	98752016	splice site	probably null
R8004:Fcho2	UTSW	13	98789505	missense	possibly damaging	0.80
R8358:Fcho2	UTSW	13	98725774	nonsense	probably null
R8512:Fcho2	UTSW	13	98755222	missense	possibly damaging	0.69
R8692:Fcho2	UTSW	13	98745874	frame shift	probably null
R8792:Fcho2	UTSW	13	98815261	unclassified	probably benign
R8954:Fcho2	UTSW	13	98777477	missense	probably benign	0.05
R8969:Fcho2	UTSW	13	98755096	nonsense	probably null
R9091:Fcho2	UTSW	13	98789361	critical splice donor site	probably null
R9092:Fcho2	UTSW	13	98749883	missense	probably benign	0.01
R9171:Fcho2	UTSW	13	98755099	missense	probably benign
R9270:Fcho2	UTSW	13	98789361	critical splice donor site	probably null
R9668:Fcho2	UTSW	13	98777457	missense	probably benign	0.12
R9672:Fcho2	UTSW	13	98732670	nonsense	probably null
R9717:Fcho2	UTSW	13	98763694	missense	probably damaging	1.00
X0018:Fcho2	UTSW	13	98732082	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGGATGAGTAGAAATGGTTCTC -3'
(R):5'- CTTGACAGTGTCTTGCCCTG -3'

Sequencing Primer
(F):5'- ACCTTATGGTGAATAACTGATTTTCC -3'
(R):5'- GCTGTCCTGGAACTCAATATGCAG -3'

Posted On

2015-05-15