Mutagenetix > Incidental Mutation

Incidental Mutation 'R3545:Mcf2'

268184

Institutional Source

Beutler Lab

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 #

R3545 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

59101316-59224449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59180806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 74 (K74R)

Ref Sequence

ENSEMBL: ENSMUSP00000033478 (fasta)

Gene Model

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

AlphaFold

Q8BLE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000033478
AA Change: K74R

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

SMART Domains

Protein: ENSMUSP00000033478
Gene: ENSMUSG00000031139
AA Change: K74R

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: K177R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067075
Gene: ENSMUSG00000031139
AA Change: K177R

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: K74R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099070
Gene: ENSMUSG00000031139
AA Change: K74R

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: K257R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.1559

Coding Region Coverage

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	A	G	14: 31,437,217 (GRCm39)	L646S	probably benign	Het
Clip1	A	G	5: 123,769,141 (GRCm39)	L532P	probably damaging	Het
Efl1	A	T	7: 82,412,018 (GRCm39)	E802D	probably benign	Het
F11r	T	C	1: 171,288,829 (GRCm39)	V149A	probably damaging	Het
Fhit	T	C	14: 9,870,095 (GRCm38)	T125A	probably benign	Het
Fmn2	A	G	1: 174,330,192 (GRCm39)	D194G	unknown	Het
Gdi1	T	A	X: 73,351,414 (GRCm39)	F175L	possibly damaging	Het
Herc3	T	C	6: 58,833,670 (GRCm39)	S186P	probably damaging	Het
Hexa	A	G	9: 59,464,581 (GRCm39)	N157S	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Lig1	T	A	7: 13,026,089 (GRCm39)	N281K	possibly damaging	Het
Lrp1b	A	T	2: 40,490,300 (GRCm39)	L287H	probably damaging	Het
Nat1	A	G	8: 67,943,684 (GRCm39)	D23G	possibly damaging	Het
Nbeal1	T	C	1: 60,317,939 (GRCm39)	F1959L	probably damaging	Het
Ncf1	T	A	5: 134,255,463 (GRCm39)	K143*	probably null	Het
Nid2	T	A	14: 19,813,779 (GRCm39)	Y195N	probably damaging	Het
Nlrp9a	T	C	7: 26,256,757 (GRCm39)	I125T	probably benign	Het
Nme7	T	C	1: 164,213,351 (GRCm39)	F343S	probably damaging	Het
Otud4	A	G	8: 80,391,684 (GRCm39)	E443G	probably damaging	Het
Palld	G	T	8: 62,003,112 (GRCm39)	A329E	possibly damaging	Het
Pask	A	T	1: 93,244,837 (GRCm39)	V1095D	probably damaging	Het
Pdzd2	C	T	15: 12,375,557 (GRCm39)	R1526Q	probably benign	Het
Prkcq	A	G	2: 11,288,627 (GRCm39)	K527E	probably benign	Het
Ramac	T	A	7: 81,418,270 (GRCm39)		probably null	Het
Reln	A	G	5: 22,432,598 (GRCm39)	V134A	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Septin9	T	C	11: 117,243,499 (GRCm39)	I350T	probably damaging	Het
Slc16a7	T	A	10: 125,130,569 (GRCm39)	K39*	probably null	Het
Spata32	T	C	11: 103,101,570 (GRCm39)	E21G	possibly damaging	Het
Tbc1d1	G	A	5: 64,443,350 (GRCm39)	R523Q	probably damaging	Het
Thnsl1	T	G	2: 21,217,438 (GRCm39)	D397E	probably benign	Het
Tubal3	T	G	13: 3,983,560 (GRCm39)	*447G	probably null	Het
Uprt	T	A	X: 103,526,934 (GRCm39)	L123H	probably damaging	Het
Usp9x	T	C	X: 12,994,629 (GRCm39)	L940P	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCATGATCACAGGAAGAACTG -3'
(R):5'- TGCACAGGACAGAACTGTTTG -3'

Sequencing Primer
(F):5'- CTGGGCAGAGAGAGAATCCTTTC -3'
(R):5'- ACAGAACTGTTTGAAGCATTTATACC -3'

Posted On

2015-02-19