Mutagenetix > Incidental Mutations

Incidental Mutation 'R0501:Fcho1'

47129

Institutional Source

Beutler Lab

Gene Symbol

Fcho1

Ensembl Gene

ENSMUSG00000070000

Gene Name

FCH domain only 1

Synonyms

3322402E17Rik

MMRRC Submission

038696-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R0501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71708387-71725716 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71712560 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 418 (A418T)

Ref Sequence

ENSEMBL: ENSMUSP00000117606 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000093444
AA Change: A418T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: A418T

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 benign
Transcript: ENSMUST00000146100
AA Change: A418T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: A418T

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

0.0765

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 72,455,372	S415P	probably benign	Het
Adam19	C	T	11: 46,123,130	P316S	probably damaging	Het
Adamts2	A	G	11: 50,668,145	D229G	probably benign	Het
Adcy10	C	T	1: 165,510,390	P191L	probably damaging	Het
Adgrv1	T	C	13: 81,559,150	Y1379C	probably damaging	Het
Akap9	T	C	5: 3,970,685	L1132P	probably damaging	Het
Aoah	A	G	13: 21,005,073	T489A	probably benign	Het
Apc2	T	C	10: 80,315,124	L1975P	probably damaging	Het
Bpifa5	A	T	2: 154,163,696	D66V	probably benign	Het
C230029F24Rik	T	C	1: 49,335,470		noncoding transcript	Het
Cacna1h	A	T	17: 25,388,667	V892E	probably damaging	Het
Car4	G	A	11: 84,963,442	V72I	probably benign	Het
Chst3	A	G	10: 60,186,227	L266P	probably damaging	Het
Ckap2l	G	A	2: 129,285,491	R256W	possibly damaging	Het
Cntn4	A	T	6: 106,618,335	D471V	probably damaging	Het
Cntrob	G	A	11: 69,322,868	S32F	probably damaging	Het
Cpne7	T	A	8: 123,126,255	N200K	possibly damaging	Het
Creb3l3	C	A	10: 81,086,582	M271I	probably benign	Het
Csmd1	T	A	8: 17,027,323	Q106L	probably damaging	Het
D7Ertd443e	G	A	7: 134,294,972	T563I	probably damaging	Het
Dmac1	T	G	4: 75,278,176	N26H	unknown	Het
Dopey2	T	C	16: 93,752,862	F230L	probably benign	Het
Dpp6	T	A	5: 27,725,606	I812N	probably damaging	Het
Fabp12	T	C	3: 10,250,143	D48G	probably benign	Het
Fbn1	G	A	2: 125,301,749	T2820M	probably benign	Het
Fcho2	A	T	13: 98,764,515	S277R	possibly damaging	Het
Fmo2	A	G	1: 162,876,928	S470P	probably benign	Het
Gm17541	T	G	12: 4,689,730		probably benign	Het
Gm4353	A	T	7: 116,083,471	Y292N	probably benign	Het
Igkv4-71	A	T	6: 69,243,306	I69N	probably damaging	Het
Insrr	G	T	3: 87,810,684	A871S	probably benign	Het
Irs2	C	T	8: 11,006,396	V679M	probably damaging	Het
Itpr3	T	A	17: 27,107,289	H1344Q	probably benign	Het
Kcnma1	T	C	14: 23,311,716	M1074V	possibly damaging	Het
Kif1a	G	A	1: 93,056,245	R602W	probably damaging	Het
Kif21b	A	T	1: 136,163,099	D1215V	probably benign	Het
Maats1	C	G	16: 38,335,635	M75I	probably damaging	Het
Mapk13	G	A	17: 28,776,353	V183M	probably damaging	Het
Mbp	C	T	18: 82,575,197	S100F	probably damaging	Het
Mcm6	A	G	1: 128,355,636	I44T	probably benign	Het
Ncor1	T	A	11: 62,373,322	D418V	possibly damaging	Het
Nid2	T	A	14: 19,789,668		probably null	Het
Nolc1	T	C	19: 46,078,920	V80A	probably damaging	Het
Olfr1024	A	G	2: 85,905,004	F17L	probably damaging	Het
Olfr1121	A	T	2: 87,371,552	R7W	probably damaging	Het
Olfr1162	A	T	2: 88,050,471	I51N	probably damaging	Het
Olfr1240	T	C	2: 89,439,716	T188A	probably benign	Het
Olfr1338	C	A	4: 118,753,830	C238F	probably benign	Het
Olfr1508	T	A	14: 52,463,926	M1L	possibly damaging	Het
Olfr3	A	T	2: 36,812,480	L204*	probably null	Het
Olfr70	A	C	4: 43,697,079	C31W	probably damaging	Het
Olfr700	G	A	7: 106,805,811	S217F	probably damaging	Het
Olfr705	A	T	7: 106,714,603	M26K	probably benign	Het
Olfr713	A	T	7: 107,036,232	T26S	probably benign	Het
Olfr855	T	A	9: 19,584,618	I27N	probably damaging	Het
Pcgf3	T	A	5: 108,475,112	C38S	probably damaging	Het
Pdia4	A	T	6: 47,801,002	V352E	probably damaging	Het
Pik3c2a	C	A	7: 116,354,055	V1202L	probably damaging	Het
Rbm15	G	T	3: 107,332,530	A184E	possibly damaging	Het
Rsph3a	T	A	17: 7,979,120	L442*	probably null	Het
Scg2	G	C	1: 79,435,603	L468V	probably damaging	Het
Sdk1	A	T	5: 141,937,718	I365L	probably benign	Het
Setdb1	A	G	3: 95,338,829	V595A	probably benign	Het
Slc22a22	T	A	15: 57,249,650	T398S	probably benign	Het
Stk11	C	A	10: 80,126,285	P217Q	probably damaging	Het
Tes	G	A	6: 17,097,558	D222N	probably benign	Het
Tmem132e	T	A	11: 82,435,068	I206N	possibly damaging	Het
Tmem214	G	T	5: 30,872,532	R251L	probably damaging	Het
Tmem253	T	A	14: 52,018,579	I105N	probably damaging	Het
Toe1	A	G	4: 116,807,485	V12A	probably benign	Het
Top1	C	A	2: 160,714,159	H513N	probably damaging	Het
Tph1	G	T	7: 46,649,988	Y376*	probably null	Het
Trim45	T	A	3: 100,923,219	L103Q	probably damaging	Het
Ttc37	A	C	13: 76,147,806	M1063L	probably benign	Het
Ttn	T	A	2: 76,944,174		probably null	Het
Twnk	T	C	19: 45,007,746	V206A	probably damaging	Het
Ube2z	A	G	11: 96,050,288	S343P	probably damaging	Het
Vmn2r8	T	C	5: 108,803,183	D132G	probably benign	Het
Wdr20rt	A	T	12: 65,225,807	T15S	probably benign	Het
Wdr59	C	T	8: 111,458,947	R841Q	possibly damaging	Het
Wdtc1	A	G	4: 133,308,840	F130L	possibly damaging	Het
Wnk1	C	T	6: 119,962,803	R43Q	probably damaging	Het
Ythdf3	T	C	3: 16,205,072	L461P	probably damaging	Het
Zcchc2	T	G	1: 106,016,091	F462C	possibly 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
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
R2177:Fcho1	UTSW	8	71712261	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CGTAGTCCATGCCTAGTTGTCACC -3'
(R):5'- CAAAATTCTGGATGCGCGGATGAG -3'

Sequencing Primer
(F):5'- AGTTGTCACCGCCAATGTC -3'
(R):5'- CGCGGATGAGTGGGATG -3'

Posted On

2013-06-12