Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00468:Mcf2'

3124

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mcf2

Ensembl Gene

ENSMUSG00000031139

Gene Name

mcf.2 transforming sequence

Synonyms

B230117G22Rik, Dbl

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00468

Quality Score

Status

Chromosome

Chromosomal Location

59101316-59224449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59179095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 104 (T104I)

Ref Sequence

ENSEMBL: ENSMUSP00000099070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033478] [ENSMUST00000063507] [ENSMUST00000101531] [ENSMUST00000228150]

AlphaFold

Q8BLE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000033478
AA Change: T104I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033478
Gene: ENSMUSG00000031139
AA Change: T104I

Domain	Start	End	E-Value	Type
Pfam:CRAL_TRIO_2	10	89	4.4e-10	PFAM
SPEC	221	322	2.74e-2	SMART
coiled coil region	395	419	N/A	INTRINSIC
RhoGEF	514	689	1.3e-62	SMART
PH	709	826	1.43e-9	SMART
low complexity region	835	850	N/A	INTRINSIC
low complexity region	888	901	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000063507
AA Change: T207I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067075
Gene: ENSMUSG00000031139
AA Change: T207I

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
low complexity region	24	40	N/A	INTRINSIC
SEC14	122	268	5.71e-19	SMART
SPEC	404	505	2.74e-2	SMART
coiled coil region	578	602	N/A	INTRINSIC
RhoGEF	681	856	1.3e-62	SMART
PH	876	993	1.43e-9	SMART
low complexity region	1002	1017	N/A	INTRINSIC
low complexity region	1055	1068	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000101531
AA Change: T104I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099070
Gene: ENSMUSG00000031139
AA Change: T104I

Domain	Start	End	E-Value	Type
Pfam:CRAL_TRIO_2	10	89	9.5e-10	PFAM
SPEC	221	322	2.74e-2	SMART
coiled coil region	395	419	N/A	INTRINSIC
RhoGEF	498	673	1.3e-62	SMART
PH	693	810	1.43e-9	SMART
low complexity region	819	834	N/A	INTRINSIC
low complexity region	872	885	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000228150
AA Change: T287I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have been found for this gene. These isoforms exhibit different expression patterns and varying levels of GEF activity.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous and hemizygous null mice are viable, fertile and behaviorally normal, exhibit normal gonad and brain development and neuronal migration, but show a significant reduction of basal dendritic length in distinct subpopulations of cortical pyramidal neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,630,453 (GRCm39)	E123G	probably damaging	Het
Alpk2	A	T	18: 65,438,894 (GRCm39)	L1300Q	probably benign	Het
Armc9	T	C	1: 86,126,061 (GRCm39)	Y51H	probably damaging	Het
Bcl11b	A	G	12: 107,932,074 (GRCm39)	V166A	possibly damaging	Het
Cfap70	T	A	14: 20,462,530 (GRCm39)	D565V	possibly damaging	Het
Cops5	C	A	1: 10,104,295 (GRCm39)	G132W	probably damaging	Het
Dync1i1	G	A	6: 5,972,135 (GRCm39)	V468M	probably damaging	Het
Fasn	A	C	11: 120,711,365 (GRCm39)	D216E	probably damaging	Het
Fktn	T	A	4: 53,734,866 (GRCm39)	I168K	probably benign	Het
Gal3st2c	A	G	1: 93,936,771 (GRCm39)	R239G	probably benign	Het
Glt6d1	A	C	2: 25,701,041 (GRCm39)	L36R	probably damaging	Het
Herc3	A	G	6: 58,895,751 (GRCm39)	I1000V	probably benign	Het
Hycc2	T	G	1: 58,569,391 (GRCm39)	E396A	probably benign	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Lhcgr	C	T	17: 89,049,874 (GRCm39)	V551I	probably benign	Het
Lmna	G	T	3: 88,391,991 (GRCm39)	S437R	probably benign	Het
Lrrc49	A	G	9: 60,595,151 (GRCm39)		probably benign	Het
Lrriq3	A	G	3: 154,806,816 (GRCm39)	D155G	probably damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mipep	A	G	14: 61,112,709 (GRCm39)	E664G	probably benign	Het
Mybpc1	A	T	10: 88,385,124 (GRCm39)	V519D	probably damaging	Het
Nfil3	C	A	13: 53,121,610 (GRCm39)	L431F	probably damaging	Het
Sctr	T	A	1: 119,972,450 (GRCm39)	V197E	probably damaging	Het
Sesn2	T	C	4: 132,227,124 (GRCm39)	T103A	probably benign	Het
Sptbn4	A	T	7: 27,117,390 (GRCm39)	V453D	probably damaging	Het
Supt5	A	T	7: 28,014,807 (GRCm39)	H1023Q	probably benign	Het
Tcof1	T	C	18: 60,947,640 (GRCm39)		probably benign	Het
Tekt2	T	A	4: 126,216,982 (GRCm39)	E262D	possibly damaging	Het
Tenm4	T	A	7: 96,523,679 (GRCm39)	H1732Q	probably damaging	Het
Tln2	T	C	9: 67,251,469 (GRCm39)	D840G	possibly damaging	Het
Tox4	A	G	14: 52,523,202 (GRCm39)	D54G	probably damaging	Het

Other mutations in Mcf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00845:Mcf2	APN	X	59,172,446 (GRCm39)	missense	probably damaging	1.00
IGL02399:Mcf2	APN	X	59,180,812 (GRCm39)	missense	probably damaging	1.00
R2012:Mcf2	UTSW	X	59,122,574 (GRCm39)	missense	probably damaging	0.98
R3545:Mcf2	UTSW	X	59,180,806 (GRCm39)	missense	probably damaging	1.00
R3547:Mcf2	UTSW	X	59,180,806 (GRCm39)	missense	probably damaging	1.00
X0020:Mcf2	UTSW	X	59,155,982 (GRCm39)	missense	probably damaging	1.00
Z1088:Mcf2	UTSW	X	59,224,073 (GRCm39)	missense	probably benign

Posted On

2012-04-20