Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01021:Fcho1'

53738

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fcho1

Ensembl Gene

ENSMUSG00000070000

Gene Name

FCH domain only 1

Synonyms

3322402E17Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

IGL01021

Quality Score

Status

Chromosome

Chromosomal Location

72161031-72178360 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 72166167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 354 (Y354*)

Ref Sequence

ENSEMBL: ENSMUSP00000117606 (fasta)

Gene Model

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

AlphaFold

Q8K285

Predicted Effect

probably null
Transcript: ENSMUST00000093444
AA Change: Y354*

SMART Domains

Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: Y354*

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

probably null
Transcript: ENSMUST00000146100
AA Change: Y354*

SMART Domains

Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: Y354*

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: ENSMUST00000143699

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 124,917,848 (GRCm39)	V80A	unknown	Het
Adam28	A	G	14: 68,879,563 (GRCm39)	S162P	probably benign	Het
Adamts14	G	T	10: 61,061,152 (GRCm39)	S426Y	probably damaging	Het
Ankrd24	A	G	10: 81,470,995 (GRCm39)		probably null	Het
B3galt5	C	A	16: 96,116,923 (GRCm39)	H185Q	probably benign	Het
Bod1l	A	G	5: 41,995,516 (GRCm39)		probably benign	Het
Ddx46	T	A	13: 55,814,145 (GRCm39)	Y700*	probably null	Het
Dph7	T	G	2: 24,861,935 (GRCm39)		probably null	Het
Eif1ad9	G	A	12: 88,296,042 (GRCm39)	G7R	unknown	Het
Fnbp4	A	G	2: 90,608,013 (GRCm39)	M912V	probably benign	Het
Fpgt	T	A	3: 154,797,129 (GRCm39)	E42V	possibly damaging	Het
Frmd3	A	G	4: 73,992,357 (GRCm39)	I75V	possibly damaging	Het
Gm3278	G	T	14: 16,082,261 (GRCm39)	V159L	possibly damaging	Het
Gmds	T	C	13: 32,311,013 (GRCm39)	I205V	possibly damaging	Het
Gprin1	T	A	13: 54,888,182 (GRCm39)	S31C	probably damaging	Het
Igkv4-68	T	C	6: 69,281,865 (GRCm39)	E102G	probably damaging	Het
Itga1	T	A	13: 115,133,536 (GRCm39)	Y458F	probably benign	Het
Kif20b	T	C	19: 34,915,660 (GRCm39)	V479A	possibly damaging	Het
Megf8	T	A	7: 25,037,799 (GRCm39)	W772R	probably benign	Het
Muc6	T	A	7: 141,217,075 (GRCm39)	I2533F	possibly damaging	Het
Npas3	T	C	12: 54,050,343 (GRCm39)	S258P	probably damaging	Het
Padi3	T	C	4: 140,523,645 (GRCm39)		probably benign	Het
Pmfbp1	G	T	8: 110,264,625 (GRCm39)	R897L	possibly damaging	Het
Rims1	A	T	1: 22,525,701 (GRCm39)	W407R	probably damaging	Het
Scnn1b	G	T	7: 121,517,259 (GRCm39)	D632Y	probably damaging	Het
Tas2r123	G	A	6: 132,824,369 (GRCm39)	A89T	probably benign	Het
Tbk1	T	C	10: 121,387,177 (GRCm39)	E706G	probably benign	Het
Thra	A	G	11: 98,653,754 (GRCm39)	D195G	possibly damaging	Het
Tpp2	T	A	1: 43,973,347 (GRCm39)	Y33*	probably null	Het
Usp6nl	T	A	2: 6,429,198 (GRCm39)	M220K	probably damaging	Het
Vmn2r112	C	T	17: 22,837,885 (GRCm39)	T782I	probably damaging	Het
Zbtb43	T	C	2: 33,343,771 (GRCm39)	T485A	probably benign	Het
Zfat	T	C	15: 68,042,015 (GRCm39)	I840V	possibly damaging	Het

Other mutations in Fcho1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01291:Fcho1	APN	8	72,165,191 (GRCm39)	missense	probably benign	0.08
IGL01473:Fcho1	APN	8	72,164,782 (GRCm39)	missense	probably benign	0.03
IGL02021:Fcho1	APN	8	72,173,919 (GRCm39)	missense	probably benign	0.06
IGL02086:Fcho1	APN	8	72,169,444 (GRCm39)	missense	probably damaging	1.00
IGL02808:Fcho1	APN	8	72,165,185 (GRCm39)	missense	possibly damaging	0.89
IGL03146:Fcho1	APN	8	72,170,074 (GRCm39)	splice site	probably benign
IGL03267:Fcho1	APN	8	72,164,943 (GRCm39)	unclassified	probably benign
cameo	UTSW	8	72,169,507 (GRCm39)	missense	possibly damaging	0.92
Lesser	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
Sidekick	UTSW	8	72,168,369 (GRCm39)	missense	probably damaging	1.00
ANU05:Fcho1	UTSW	8	72,165,191 (GRCm39)	missense	probably benign	0.08
R0003:Fcho1	UTSW	8	72,161,597 (GRCm39)	missense	probably damaging	1.00
R0010:Fcho1	UTSW	8	72,162,643 (GRCm39)	missense	probably damaging	1.00
R0020:Fcho1	UTSW	8	72,169,514 (GRCm39)	missense	probably benign	0.11
R0363:Fcho1	UTSW	8	72,170,134 (GRCm39)	missense	probably damaging	1.00
R0457:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0485:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0501:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0502:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0551:Fcho1	UTSW	8	72,164,818 (GRCm39)	missense	probably benign	0.06
R0583:Fcho1	UTSW	8	72,168,369 (GRCm39)	missense	probably damaging	1.00
R0584:Fcho1	UTSW	8	72,168,369 (GRCm39)	missense	probably damaging	1.00
R0585:Fcho1	UTSW	8	72,168,369 (GRCm39)	missense	probably damaging	1.00
R0612:Fcho1	UTSW	8	72,168,168 (GRCm39)	missense	probably damaging	1.00
R0614:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0647:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0841:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R0842:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1034:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1036:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1399:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1466:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1466:Fcho1	UTSW	8	72,165,204 (GRCm39)	missense	probably benign	0.00
R1618:Fcho1	UTSW	8	72,163,047 (GRCm39)	missense	probably damaging	0.98
R1754:Fcho1	UTSW	8	72,163,890 (GRCm39)	missense	probably benign
R1793:Fcho1	UTSW	8	72,161,666 (GRCm39)	nonsense	probably null
R2073:Fcho1	UTSW	8	72,163,133 (GRCm39)	missense	probably damaging	0.98
R2177:Fcho1	UTSW	8	72,164,905 (GRCm39)	missense	probably damaging	1.00
R4072:Fcho1	UTSW	8	72,163,013 (GRCm39)	missense	probably damaging	0.99
R4074:Fcho1	UTSW	8	72,163,013 (GRCm39)	missense	probably damaging	0.99
R4076:Fcho1	UTSW	8	72,163,013 (GRCm39)	missense	probably damaging	0.99
R4606:Fcho1	UTSW	8	72,165,124 (GRCm39)	missense	probably benign
R4732:Fcho1	UTSW	8	72,169,439 (GRCm39)	missense	probably benign	0.00
R4733:Fcho1	UTSW	8	72,169,439 (GRCm39)	missense	probably benign	0.00
R4860:Fcho1	UTSW	8	72,163,125 (GRCm39)	missense	probably benign	0.04
R4860:Fcho1	UTSW	8	72,163,125 (GRCm39)	missense	probably benign	0.04
R5082:Fcho1	UTSW	8	72,169,829 (GRCm39)	missense	possibly damaging	0.69
R5083:Fcho1	UTSW	8	72,169,820 (GRCm39)	missense	probably benign	0.00
R5185:Fcho1	UTSW	8	72,167,600 (GRCm39)	unclassified	probably benign
R6025:Fcho1	UTSW	8	72,165,217 (GRCm39)	splice site	probably null
R6624:Fcho1	UTSW	8	72,162,015 (GRCm39)	missense	probably damaging	0.99
R6875:Fcho1	UTSW	8	72,167,069 (GRCm39)	splice site	probably null
R7069:Fcho1	UTSW	8	72,163,141 (GRCm39)	splice site	probably null
R7476:Fcho1	UTSW	8	72,166,190 (GRCm39)	missense	probably damaging	1.00
R7512:Fcho1	UTSW	8	72,169,507 (GRCm39)	missense	possibly damaging	0.92
R7951:Fcho1	UTSW	8	72,164,920 (GRCm39)	missense	probably benign	0.00
R8699:Fcho1	UTSW	8	72,162,277 (GRCm39)	missense	possibly damaging	0.63
R8938:Fcho1	UTSW	8	72,169,790 (GRCm39)	missense	possibly damaging	0.96
R9090:Fcho1	UTSW	8	72,163,068 (GRCm39)	missense	possibly damaging	0.80
R9117:Fcho1	UTSW	8	72,164,712 (GRCm39)	missense	possibly damaging	0.87
R9119:Fcho1	UTSW	8	72,164,712 (GRCm39)	missense	possibly damaging	0.87
R9271:Fcho1	UTSW	8	72,163,068 (GRCm39)	missense	possibly damaging	0.80
R9433:Fcho1	UTSW	8	72,169,468 (GRCm39)	missense	probably benign	0.03
R9447:Fcho1	UTSW	8	72,169,913 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-28