Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01449:Fcho2'

84575

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fcho2

Ensembl Gene

ENSMUSG00000041685

Gene Name

FCH domain only 2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01449

Quality Score

Status

Chromosome

Chromosomal Location

98723403-98815449 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98789807 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 89 (D89E)

Ref Sequence

ENSEMBL: ENSMUSP00000153040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040340] [ENSMUST00000099277] [ENSMUST00000109403] [ENSMUST00000179563] [ENSMUST00000224992] [ENSMUST00000225840]

AlphaFold

Q3UQN2

Predicted Effect

probably benign
Transcript: ENSMUST00000040340
AA Change: D89E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: D89E

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
AA Change: D89E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096883
Gene: ENSMUSG00000041685
AA Change: D89E

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 benign
Transcript: ENSMUST00000109403
AA Change: D89E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105030
Gene: ENSMUSG00000041685
AA Change: D89E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000179563
AA Change: D89E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137422
Gene: ENSMUSG00000041685
AA Change: D89E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224231

Predicted Effect

probably benign
Transcript: ENSMUST00000224992
AA Change: D89E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225094

Predicted Effect

probably benign
Transcript: ENSMUST00000225840
AA Change: D89E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,444,849	L33F	probably benign	Het
Actr8	T	C	14: 29,990,970		probably null	Het
Aldh16a1	C	A	7: 45,141,967	A105S	probably damaging	Het
Angpt2	T	C	8: 18,710,625	T154A	probably benign	Het
BC051665	A	G	13: 60,782,704	V278A	probably damaging	Het
Cap1	T	C	4: 122,860,187	T458A	probably damaging	Het
Clcn3	A	T	8: 60,934,598	S179T	probably damaging	Het
Cyp2a22	T	C	7: 26,933,553	D408G	probably benign	Het
D430042O09Rik	T	A	7: 125,870,685	V1442D	probably damaging	Het
Fam217b	T	A	2: 178,421,150	S302R	probably damaging	Het
Fnip1	C	T	11: 54,499,508	R434C	probably damaging	Het
Gga3	G	A	11: 115,589,102	T261M	probably damaging	Het
Gm21985	T	C	2: 112,339,396	F292L	probably damaging	Het
Gm43638	A	T	5: 87,486,215	S178T	possibly damaging	Het
Igkv10-95	G	A	6: 68,680,764	G68E	probably damaging	Het
Lpcat2	G	A	8: 92,871,147	R180Q	possibly damaging	Het
Muc6	C	T	7: 141,638,614	A1984T	possibly damaging	Het
Npy4r	T	A	14: 34,146,365	Y322F	probably damaging	Het
Nwd2	T	A	5: 63,805,594	H840Q	probably damaging	Het
Olfr844	G	A	9: 19,319,233	G233D	probably damaging	Het
Osbpl2	G	T	2: 180,145,194		probably benign	Het
Pclo	T	A	5: 14,678,516		probably benign	Het
Pold4	T	C	19: 4,232,867		probably benign	Het
Ppp1r16a	A	G	15: 76,694,294		probably benign	Het
Pprc1	C	T	19: 46,065,232		probably benign	Het
Prkcg	A	G	7: 3,319,619	D343G	probably benign	Het
Scaf11	A	C	15: 96,419,126	S852R	probably benign	Het
Slc31a2	C	T	4: 62,292,696	T22I	probably damaging	Het
Sox30	T	A	11: 45,981,342	D341E	probably damaging	Het
Tle4	A	G	19: 14,465,340	S339P	probably benign	Het
Tsg101	A	T	7: 46,908,925	Y78N	probably damaging	Het
Ttc1	T	A	11: 43,738,803	S179C	probably damaging	Het
Txnrd3	T	A	6: 89,654,147	S142T	probably benign	Het
Ubr4	C	A	4: 139,412,736	A1210E	probably damaging	Het
Uroc1	C	A	6: 90,338,653	P172Q	probably damaging	Het
Usp12	T	C	5: 146,754,440	D168G	probably benign	Het
Vmn1r32	T	A	6: 66,552,932	M287L	probably benign	Het
Vwa8	C	T	14: 79,182,988	Q1710*	probably null	Het
Wdfy4	T	A	14: 33,104,037	Q1219L	probably damaging	Het
Zbtb17	A	G	4: 141,463,305	T145A	probably benign	Het
Zfp697	T	C	3: 98,427,530	C204R	probably damaging	Het

Other mutations in Fcho2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-11