Mutagenetix > Incidental Mutation

Incidental Mutation 'R5437:Fcho2'

428442

Institutional Source

Beutler Lab

Gene Symbol

Fcho2

Ensembl Gene

ENSMUSG00000041685

Gene Name

FCH domain only 2

Synonyms

MMRRC Submission

043002-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5437 (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 98777474 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 205 (I205T)

Ref Sequence

ENSEMBL: ENSMUSP00000153477 (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: I205T

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: I205T

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

possibly damaging
Transcript: ENSMUST00000099277
AA Change: I205T

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096883
Gene: ENSMUSG00000041685
AA Change: I205T

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: I205T

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105030
Gene: ENSMUSG00000041685
AA Change: I205T

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: I205T

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137422
Gene: ENSMUSG00000041685
AA Change: I205T

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

possibly damaging
Transcript: ENSMUST00000224992
AA Change: I205T

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225094

Predicted Effect

probably benign
Transcript: ENSMUST00000225840
AA Change: I205T

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0789

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,319,796	Q186*	probably null	Het
Acaca	G	A	11: 84,346,820		probably null	Het
Acsm3	C	A	7: 119,778,497		probably benign	Het
Aoc1	C	A	6: 48,907,750	Q576K	probably benign	Het
Atp6v0a4	T	A	6: 38,076,733	N378I	probably damaging	Het
BC003331	T	G	1: 150,363,518	I385L	probably benign	Het
Cacna1i	A	T	15: 80,371,529	H871L	probably damaging	Het
Clic4	C	G	4: 135,217,246	R206P	probably damaging	Het
Commd9	G	A	2: 101,901,028	G186D	probably damaging	Het
Cpne9	C	T	6: 113,304,630		probably benign	Het
Crhr2	C	T	6: 55,100,733	V196I	probably damaging	Het
Dctn5	T	A	7: 122,133,329		probably benign	Het
Dhtkd1	C	T	2: 5,924,119	R247Q	probably benign	Het
Dmrta1	G	A	4: 89,691,756	G318R	possibly damaging	Het
Dpp6	T	A	5: 27,663,501	Y487*	probably null	Het
Eef1akmt3	A	T	10: 127,033,247	N119K	probably damaging	Het
Eloa	A	T	4: 136,012,885	L75Q	probably damaging	Het
Fat3	G	A	9: 16,085,308	T1202M	probably damaging	Het
Fkbp10	A	C	11: 100,421,023	D174A	probably damaging	Het
Gcnt2	T	A	13: 40,861,176	F274L	probably damaging	Het
Gtf3c1	A	T	7: 125,667,368	C969S	probably damaging	Het
Hook3	T	C	8: 26,061,422	E130G	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Itsn1	T	A	16: 91,818,591		probably benign	Het
Kif13b	C	T	14: 64,806,114	R1788C	probably damaging	Het
Kif3a	C	T	11: 53,598,726	S135F	probably damaging	Het
Klf5	C	T	14: 99,301,459	R23*	probably null	Het
Lcn5	A	G	2: 25,658,011	I11V	probably benign	Het
Mpp7	A	T	18: 7,458,930		probably null	Het
Mroh5	T	C	15: 73,787,969	I338V	probably benign	Het
Mthfd2l	A	G	5: 90,948,898	N126S	possibly damaging	Het
Myo18b	G	T	5: 112,757,573	A2053E	possibly damaging	Het
Naip6	A	T	13: 100,303,304	C318*	probably null	Het
Ndufs7	C	T	10: 80,254,924	R116C	possibly damaging	Het
Olfr1378	T	C	11: 50,969,108	M30T	probably benign	Het
Pnkd	T	C	1: 74,349,737	V214A	possibly damaging	Het
Popdc2	T	G	16: 38,362,901	V82G	probably benign	Het
Prkdc	A	T	16: 15,769,875	L2541F	possibly damaging	Het
Ptpn9	A	T	9: 57,020,037	H66L	possibly damaging	Het
Pygm	T	A	19: 6,390,382	N397K	probably damaging	Het
Rabgap1l	T	A	1: 160,722,147	E324D	probably damaging	Het
Rnf6	G	A	5: 146,210,280	R643C	probably damaging	Het
Ryr2	C	T	13: 11,655,713	V3466M	probably damaging	Het
Scn7a	A	G	2: 66,676,346	Y1400H	probably damaging	Het
Sept10	T	A	10: 59,176,959	N279I	probably damaging	Het
Sh3rf2	A	T	18: 42,141,014	Y415F	probably benign	Het
Sorcs1	T	C	19: 50,252,602	T449A	probably benign	Het
Tcam1	C	T	11: 106,285,423	T325M	probably damaging	Het
Tctn1	A	G	5: 122,258,879	I147T	probably benign	Het
Tet1	G	T	10: 62,814,451	H30Q	probably benign	Het
Tmem109	A	G	19: 10,872,014	I159T	probably damaging	Het
Tmem40	C	T	6: 115,759,031		probably benign	Het
Tnfrsf21	C	T	17: 43,037,862	P122S	possibly damaging	Het
Uaca	A	G	9: 60,871,451	D1038G	probably benign	Het
Ubr2	C	G	17: 46,963,697	E852D	probably benign	Het
Ubr3	A	T	2: 69,944,390	N518I	probably damaging	Het
Unc80	T	G	1: 66,654,578	L2596R	possibly damaging	Het
Zcchc3	G	A	2: 152,414,732	P16S	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
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
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'- TCCAAACAAAGTGGTAAAAGACTT -3'
(R):5'- AGACTCTGGAAAAGTTTATATTTGCC -3'

Sequencing Primer
(F):5'- TGGATCTCCTTGACAGCA -3'
(R):5'- GCCAAAGATGATGGAATAACAAAAAG -3'

Posted On

2016-09-01