Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02399:Mcf2'

291823

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 #

IGL02399

Quality Score

Status

Chromosome

Chromosomal Location

59101316-59224449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59180812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 255 (D255G)

Ref Sequence

ENSEMBL: ENSMUSP00000154494 (fasta)

Gene Model

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

AlphaFold

Q8BLE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000033478
AA Change: D72G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033478
Gene: ENSMUSG00000031139
AA Change: D72G

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: D175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067075
Gene: ENSMUSG00000031139
AA Change: D175G

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: D72G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099070
Gene: ENSMUSG00000031139
AA Change: D72G

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: D255G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	C	T	2: 150,700,413 (GRCm39)		probably benign	Het
Adarb1	G	A	10: 77,131,588 (GRCm39)	P624S	probably benign	Het
Afg3l2	A	T	18: 67,562,110 (GRCm39)	F322I	possibly damaging	Het
Arhgap23	A	G	11: 97,381,831 (GRCm39)		probably benign	Het
Atp13a1	A	G	8: 70,259,751 (GRCm39)	N1114S	probably damaging	Het
C3ar1	T	C	6: 122,826,838 (GRCm39)	N460D	probably benign	Het
Cacna1e	A	G	1: 154,279,493 (GRCm39)	Y1988H	probably damaging	Het
Calr	T	C	8: 85,569,415 (GRCm39)		probably benign	Het
D5Ertd579e	A	G	5: 36,773,529 (GRCm39)	S289P	probably damaging	Het
Erbb4	G	A	1: 68,081,596 (GRCm39)		probably benign	Het
Fam98a	A	G	17: 75,845,936 (GRCm39)		probably benign	Het
Gm3739	A	T	14: 18,505,274 (GRCm39)	D83E	possibly damaging	Het
Gm5420	A	T	10: 21,567,071 (GRCm39)		noncoding transcript	Het
Heatr5b	A	G	17: 79,135,396 (GRCm39)	V245A	probably damaging	Het
Kptn	C	A	7: 15,861,038 (GRCm39)		probably benign	Het
Llgl2	T	C	11: 115,735,661 (GRCm39)	C86R	probably damaging	Het
Lrr1	T	A	12: 69,215,665 (GRCm39)	C12*	probably null	Het
Med13	A	T	11: 86,174,771 (GRCm39)		probably benign	Het
Mthfd1	C	T	12: 76,364,406 (GRCm39)	T735M	probably damaging	Het
Nlrp2	C	T	7: 5,331,809 (GRCm39)	A196T	probably damaging	Het
Nnmt	T	C	9: 48,514,838 (GRCm39)	I60V	probably damaging	Het
Odad2	G	T	18: 7,285,719 (GRCm39)	Q215K	probably benign	Het
Or4c110	T	A	2: 88,832,507 (GRCm39)	T42S	probably benign	Het
Or6ae1	A	T	7: 139,742,513 (GRCm39)	S117T	probably benign	Het
P2rx3	T	C	2: 84,853,571 (GRCm39)	I140V	probably benign	Het
Patj	A	G	4: 98,480,173 (GRCm39)	N1293D	probably damaging	Het
Pitpnm2	G	A	5: 124,278,821 (GRCm39)		probably benign	Het
Ppp1r26	T	G	2: 28,343,292 (GRCm39)	V974G	probably benign	Het
Prrc2b	T	A	2: 32,116,973 (GRCm39)	L1376*	probably null	Het
Rab33a	T	A	X: 47,608,584 (GRCm39)	I36N	probably damaging	Het
Rab3gap1	A	T	1: 127,855,840 (GRCm39)	N493I	possibly damaging	Het
Scara3	C	A	14: 66,170,559 (GRCm39)	G107*	probably null	Het
Siglec1	T	C	2: 130,913,098 (GRCm39)	E1606G	probably benign	Het
Skint9	A	T	4: 112,246,447 (GRCm39)	Y222N	possibly damaging	Het
Slc47a1	A	T	11: 61,253,884 (GRCm39)	I185N	probably damaging	Het
Slc47a2	C	A	11: 61,193,020 (GRCm39)		probably benign	Het
Slc4a2	A	G	5: 24,639,711 (GRCm39)	I506V	probably damaging	Het
Slc9a4	A	C	1: 40,639,942 (GRCm39)	I245L	probably benign	Het
Smarcb1	T	C	10: 75,733,328 (GRCm39)	T357A	probably damaging	Het
Spata31d1d	A	G	13: 59,877,954 (GRCm39)		probably benign	Het
Stox2	T	A	8: 47,639,573 (GRCm39)	I874F	probably damaging	Het
Taar7b	A	T	10: 23,876,050 (GRCm39)	I72F	probably damaging	Het
Tacc2	G	A	7: 130,225,129 (GRCm39)	V605I	probably benign	Het
Tef	T	C	15: 81,699,301 (GRCm39)	L34P	probably damaging	Het
Trak2	A	G	1: 58,949,204 (GRCm39)	V532A	probably benign	Het
Usp13	T	A	3: 32,973,209 (GRCm39)	D795E	probably damaging	Het
Vmn1r32	T	A	6: 66,529,913 (GRCm39)	I288F	probably benign	Het
Vmn1r75	T	C	7: 11,615,093 (GRCm39)	I275T	possibly damaging	Het
Zfp871	A	T	17: 32,993,329 (GRCm39)	F615L	probably benign	Het
Zfp941	G	A	7: 140,392,612 (GRCm39)	T249M	probably benign	Het
Zhx1	T	C	15: 57,917,137 (GRCm39)	I370V	probably damaging	Het

Other mutations in Mcf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Mcf2	APN	X	59,179,095 (GRCm39)	missense	probably damaging	0.99
IGL00845:Mcf2	APN	X	59,172,446 (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

2015-04-16