Mutagenetix > Incidental Mutation

Incidental Mutation 'R1608:Fcho2'

176644

Institutional Source

Beutler Lab

Gene Symbol

Fcho2

Ensembl Gene

ENSMUSG00000041685

Gene Name

FCH domain only 2

Synonyms

MMRRC Submission

039645-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98723403-98815449 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98726198 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 757 (D757G)

Ref Sequence

ENSEMBL: ENSMUSP00000042959 (fasta)

Gene Model

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

AlphaFold

Q3UQN2

Predicted Effect

probably benign
Transcript: ENSMUST00000040340
AA Change: D757G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: D757G

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

probably benign
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

noncoding transcript
Transcript: ENSMUST00000225318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225945

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	G	9: 30,902,479	S797P	probably damaging	Het
Akap9	T	C	5: 3,961,783	Y829H	probably damaging	Het
Anp32a	A	G	9: 62,372,093	D74G	probably damaging	Het
B230118H07Rik	T	C	2: 101,610,571	E29G	probably damaging	Het
B3gat1	T	C	9: 26,751,816	I13T	probably damaging	Het
Cbfa2t3	A	T	8: 122,647,709	V99D	probably damaging	Het
Celsr2	C	T	3: 108,402,483	C1600Y	probably damaging	Het
Ddx31	T	A	2: 28,859,066	N291K	probably damaging	Het
Dennd1a	T	G	2: 37,852,434	M3L	probably benign	Het
Dnah12	C	T	14: 26,766,190	P1017L	probably damaging	Het
Dnajc6	A	T	4: 101,599,167	D86V	probably damaging	Het
Evx2	T	G	2: 74,657,851	K208N	probably damaging	Het
F13a1	A	G	13: 36,868,811	V718A	probably damaging	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Fryl	C	T	5: 73,074,751	W424*	probably null	Het
Gata3	G	T	2: 9,874,768	Y97*	probably null	Het
Gm15446	T	A	5: 109,942,457	C192S	probably damaging	Het
Hdac10	A	T	15: 89,125,318	D470E	probably benign	Het
Ier2	A	G	8: 84,662,426	L109P	probably benign	Het
Kcnh2	T	C	5: 24,322,219	T559A	probably benign	Het
Khk	C	T	5: 30,930,594	A204V	probably damaging	Het
Kndc1	T	A	7: 139,927,408	M1169K	possibly damaging	Het
Krtap31-1	A	G	11: 99,908,093	S41G	probably benign	Het
Nabp1	T	C	1: 51,473,003		probably null	Het
Nphp3	A	G	9: 104,035,840	D939G	probably benign	Het
Olfr513	A	T	7: 108,755,102	N82I	probably damaging	Het
Plcg2	T	C	8: 117,614,235	I1089T	possibly damaging	Het
Ptk2	A	T	15: 73,262,575	D558E	probably damaging	Het
Serpinb6d	A	G	13: 33,669,129	D168G	probably benign	Het
Shisa8	G	A	15: 82,208,555	P189L	probably damaging	Het
Shkbp1	A	G	7: 27,354,779	V89A	probably benign	Het
Slc40a1	C	T	1: 45,911,297	A332T	probably damaging	Het
Slc44a3	A	T	3: 121,497,847	Y373*	probably null	Het
Slf2	T	C	19: 44,949,001	V722A	probably benign	Het
Spanxn4	A	G	12: 62,687,838		noncoding transcript	Het
Stag3	T	A	5: 138,298,639		probably null	Het
Tanc1	T	C	2: 59,797,694	I612T	possibly damaging	Het
Thbs2	T	A	17: 14,685,781	M286L	probably benign	Het
Top1	T	A	2: 160,703,595	N294K	probably benign	Het
Tpr	T	G	1: 150,426,893	L1381V	probably damaging	Het
Trpm8	T	G	1: 88,326,432	S126A	probably benign	Het
Ttc41	A	G	10: 86,775,993	Y1075C	probably damaging	Het
Ubox5	C	T	2: 130,597,456	G418D	probably benign	Het
Vmn1r67	T	C	7: 10,446,980	V57A	possibly damaging	Het
Zbtb5	T	C	4: 44,993,500	H628R	probably damaging	Het
Zfp810	T	C	9: 22,278,920	I231V	probably benign	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
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
R4079:Fcho2	UTSW	13	98755612	missense	probably damaging	0.99
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'- ACTCTATCAAGACTGCCTCTACCTGAC -3'
(R):5'- GTGCAAATTCCGGCTCACTGAATAAG -3'

Sequencing Primer
(F):5'- TATAAACTGCTAGAGCACCAGTG -3'
(R):5'- gcaacaaaggtaactttatggttgg -3'

Posted On

2014-04-24