Mutagenetix > Incidental Mutation

Incidental Mutation 'R0604:Mcc'

55607

Institutional Source

Beutler Lab

Gene Symbol

Mcc

Ensembl Gene

ENSMUSG00000071856

Gene Name

mutated in colorectal cancers

Synonyms

D18Ertd451e

MMRRC Submission

038793-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44558127-44945249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44606823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 536 (A536V)

Ref Sequence

ENSEMBL: ENSMUSP00000087318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089874] [ENSMUST00000164666]

AlphaFold

E9PWI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000089874
AA Change: A536V

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

SMART Domains

Protein: ENSMUSP00000087318
Gene: ENSMUSG00000071856
AA Change: A536V

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
EFh	24	52	1.36e-3	SMART
EFh	57	85	7.36e0	SMART
coiled coil region	196	308	N/A	INTRINSIC
coiled coil region	395	466	N/A	INTRINSIC
low complexity region	488	493	N/A	INTRINSIC
low complexity region	512	517	N/A	INTRINSIC
low complexity region	523	537	N/A	INTRINSIC
Pfam:MCC-bdg_PDZ	577	641	2.6e-32	PFAM
low complexity region	715	731	N/A	INTRINSIC
coiled coil region	738	834	N/A	INTRINSIC
low complexity region	853	863	N/A	INTRINSIC
Pfam:MCC-bdg_PDZ	906	972	1.1e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164666
AA Change: A361V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128032
Gene: ENSMUSG00000071856
AA Change: A361V

Domain	Start	End	E-Value	Type
coiled coil region	21	133	N/A	INTRINSIC
Pfam:MCC-bdg_PDZ	233	289	1.2e-14	PFAM
low complexity region	313	318	N/A	INTRINSIC
low complexity region	337	342	N/A	INTRINSIC
low complexity region	348	362	N/A	INTRINSIC
Pfam:MCC-bdg_PDZ	401	467	3.8e-32	PFAM
low complexity region	540	556	N/A	INTRINSIC
coiled coil region	563	659	N/A	INTRINSIC
low complexity region	678	688	N/A	INTRINSIC
Pfam:MCC-bdg_PDZ	730	798	1.3e-27	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for hypomorphic or null mutations are viable and fertile with no gross abnormalities. [provided by MGI curators]

Allele List at MGI

All alleles(29) : Targeted(2) Gene trapped(27)

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,775,451 (GRCm39)	E302G	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adrb2	G	A	18: 62,311,586 (GRCm39)	T413I	possibly damaging	Het
Aqr	T	C	2: 113,961,085 (GRCm39)	K725R	probably benign	Het
Braf	A	G	6: 39,600,631 (GRCm39)	I662T	probably damaging	Het
Ccdc178	A	G	18: 22,200,500 (GRCm39)	S435P	probably benign	Het
Chd9	A	G	8: 91,763,170 (GRCm39)	M2332V	possibly damaging	Het
Clgn	T	C	8: 84,150,823 (GRCm39)	V496A	probably benign	Het
Dnah17	A	C	11: 118,012,297 (GRCm39)	S193R	probably benign	Het
Dntt	A	G	19: 41,041,588 (GRCm39)	E424G	probably benign	Het
Fam149a	A	G	8: 45,798,045 (GRCm39)	L492P	probably damaging	Het
Fetub	T	C	16: 22,754,410 (GRCm39)	Y126H	possibly damaging	Het
Fgfr3	A	T	5: 33,890,126 (GRCm39)	Y96F	probably damaging	Het
Gm4952	A	G	19: 12,602,036 (GRCm39)	E148G	probably benign	Het
Gucy2g	T	A	19: 55,191,519 (GRCm39)	L977F	probably benign	Het
Il1r1	T	C	1: 40,321,406 (GRCm39)	V6A	probably benign	Het
Itsn2	C	A	12: 4,708,189 (GRCm39)	Q832K	probably benign	Het
Lats1	T	A	10: 7,588,425 (GRCm39)	F1014Y	probably damaging	Het
Mtrf1	T	C	14: 79,653,327 (GRCm39)	V334A	possibly damaging	Het
Or1j21	T	A	2: 36,684,119 (GRCm39)	Y290*	probably null	Het
Or2t46	T	A	11: 58,472,174 (GRCm39)	M168K	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or4p18	T	C	2: 88,232,727 (GRCm39)	T184A	probably benign	Het
Pard6g	A	G	18: 80,160,423 (GRCm39)	S179G	probably damaging	Het
Pierce1	C	A	2: 28,356,103 (GRCm39)	R60L	possibly damaging	Het
Polr3a	G	A	14: 24,534,232 (GRCm39)	P91L	probably damaging	Het
Psg27	A	T	7: 18,290,997 (GRCm39)	V402D	probably damaging	Het
Rttn	A	G	18: 88,995,882 (GRCm39)	I222V	probably damaging	Het
Sp9	T	A	2: 73,103,982 (GRCm39)	S179T	probably benign	Het
Tbc1d8	T	A	1: 39,444,407 (GRCm39)	H184L	probably damaging	Het
Vmn1r69	A	G	7: 10,314,581 (GRCm39)	V50A	probably benign	Het
Vmn2r58	A	G	7: 41,510,000 (GRCm39)	F526L	possibly damaging	Het

Other mutations in Mcc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Mcc	APN	18	44,582,283 (GRCm39)	missense	possibly damaging	0.93
IGL00981:Mcc	APN	18	44,582,416 (GRCm39)	missense	probably damaging	0.99
IGL00985:Mcc	APN	18	44,624,306 (GRCm39)	missense	probably damaging	1.00
IGL01674:Mcc	APN	18	44,624,223 (GRCm39)	missense	probably benign	0.10
IGL01862:Mcc	APN	18	44,892,363 (GRCm39)	missense	probably benign	0.00
IGL01935:Mcc	APN	18	44,652,583 (GRCm39)	critical splice donor site	probably null
IGL02168:Mcc	APN	18	44,582,366 (GRCm39)	missense	probably damaging	0.97
IGL02449:Mcc	APN	18	44,593,025 (GRCm39)	missense	probably benign	0.10
IGL02613:Mcc	APN	18	44,563,021 (GRCm39)	missense	probably damaging	1.00
IGL02709:Mcc	APN	18	44,578,877 (GRCm39)	missense	possibly damaging	0.73
R0009:Mcc	UTSW	18	44,579,000 (GRCm39)	missense	probably damaging	1.00
R0009:Mcc	UTSW	18	44,579,000 (GRCm39)	missense	probably damaging	1.00
R0021:Mcc	UTSW	18	44,652,583 (GRCm39)	critical splice donor site	probably benign
R0022:Mcc	UTSW	18	44,652,583 (GRCm39)	critical splice donor site	probably benign
R0062:Mcc	UTSW	18	44,652,583 (GRCm39)	critical splice donor site	probably benign
R0062:Mcc	UTSW	18	44,652,583 (GRCm39)	critical splice donor site	probably benign
R0063:Mcc	UTSW	18	44,652,583 (GRCm39)	critical splice donor site	probably benign
R0064:Mcc	UTSW	18	44,652,583 (GRCm39)	critical splice donor site	probably benign
R0217:Mcc	UTSW	18	44,652,583 (GRCm39)	critical splice donor site	probably benign
R0218:Mcc	UTSW	18	44,652,583 (GRCm39)	critical splice donor site	probably benign
R0243:Mcc	UTSW	18	44,892,366 (GRCm39)	missense	probably benign
R0373:Mcc	UTSW	18	44,608,289 (GRCm39)	missense	probably benign	0.01
R0564:Mcc	UTSW	18	44,601,574 (GRCm39)	missense	probably damaging	1.00
R0691:Mcc	UTSW	18	44,578,927 (GRCm39)	missense	possibly damaging	0.67
R0965:Mcc	UTSW	18	44,857,593 (GRCm39)	missense	probably benign	0.41
R1015:Mcc	UTSW	18	44,857,736 (GRCm39)	missense	probably benign
R1186:Mcc	UTSW	18	44,892,470 (GRCm39)	missense	probably benign
R1215:Mcc	UTSW	18	44,601,561 (GRCm39)	missense	possibly damaging	0.93
R1878:Mcc	UTSW	18	44,601,467 (GRCm39)	missense	possibly damaging	0.69
R1990:Mcc	UTSW	18	44,624,382 (GRCm39)	nonsense	probably null
R1991:Mcc	UTSW	18	44,624,382 (GRCm39)	nonsense	probably null
R1992:Mcc	UTSW	18	44,624,382 (GRCm39)	nonsense	probably null
R2186:Mcc	UTSW	18	44,945,145 (GRCm39)	missense	possibly damaging	0.71
R2189:Mcc	UTSW	18	44,667,297 (GRCm39)	missense	possibly damaging	0.93
R2258:Mcc	UTSW	18	44,608,203 (GRCm39)	missense	probably damaging	1.00
R2267:Mcc	UTSW	18	44,652,608 (GRCm39)	missense	probably damaging	0.99
R2310:Mcc	UTSW	18	44,564,433 (GRCm39)	missense	probably damaging	1.00
R2343:Mcc	UTSW	18	44,592,864 (GRCm39)	critical splice donor site	probably null
R2377:Mcc	UTSW	18	44,652,616 (GRCm39)	missense	probably damaging	1.00
R3110:Mcc	UTSW	18	44,582,330 (GRCm39)	missense	probably damaging	1.00
R3112:Mcc	UTSW	18	44,582,330 (GRCm39)	missense	probably damaging	1.00
R4135:Mcc	UTSW	18	44,857,707 (GRCm39)	missense	probably benign	0.03
R4404:Mcc	UTSW	18	44,892,365 (GRCm39)	missense	probably benign
R4600:Mcc	UTSW	18	44,652,587 (GRCm39)	missense	probably damaging	1.00
R4606:Mcc	UTSW	18	44,601,488 (GRCm39)	missense	probably damaging	0.96
R4721:Mcc	UTSW	18	44,652,623 (GRCm39)	missense	probably damaging	1.00
R5858:Mcc	UTSW	18	44,643,208 (GRCm39)	missense	probably damaging	0.98
R5997:Mcc	UTSW	18	44,582,388 (GRCm39)	missense	probably damaging	1.00
R6482:Mcc	UTSW	18	44,578,931 (GRCm39)	missense	possibly damaging	0.94
R6502:Mcc	UTSW	18	44,601,458 (GRCm39)	missense	probably damaging	1.00
R6502:Mcc	UTSW	18	44,601,457 (GRCm39)	nonsense	probably null
R6518:Mcc	UTSW	18	44,794,878 (GRCm39)	start gained	probably benign
R6796:Mcc	UTSW	18	44,857,627 (GRCm39)	missense	probably benign
R6846:Mcc	UTSW	18	44,606,707 (GRCm39)	missense	possibly damaging	0.63
R6879:Mcc	UTSW	18	44,945,179 (GRCm39)	missense	unknown
R7147:Mcc	UTSW	18	44,626,580 (GRCm39)	missense	probably damaging	0.99
R7475:Mcc	UTSW	18	44,609,303 (GRCm39)	missense	probably damaging	0.98
R7515:Mcc	UTSW	18	44,626,499 (GRCm39)	missense	probably benign	0.02
R7608:Mcc	UTSW	18	44,624,294 (GRCm39)	missense	possibly damaging	0.83
R8092:Mcc	UTSW	18	44,892,299 (GRCm39)	missense	probably benign	0.00
R8119:Mcc	UTSW	18	44,601,500 (GRCm39)	missense	possibly damaging	0.95
R8162:Mcc	UTSW	18	44,582,508 (GRCm39)	critical splice acceptor site	probably null
R8187:Mcc	UTSW	18	44,667,327 (GRCm39)	missense	possibly damaging	0.53
R8716:Mcc	UTSW	18	44,582,403 (GRCm39)	missense	possibly damaging	0.92
R8744:Mcc	UTSW	18	44,857,639 (GRCm39)	missense	probably benign
R9383:Mcc	UTSW	18	44,575,985 (GRCm39)	missense	probably benign	0.24
R9517:Mcc	UTSW	18	44,794,794 (GRCm39)	missense	probably damaging	1.00
R9570:Mcc	UTSW	18	44,578,925 (GRCm39)	missense	probably damaging	0.97
R9590:Mcc	UTSW	18	44,592,977 (GRCm39)	missense	possibly damaging	0.93
X0010:Mcc	UTSW	18	44,563,024 (GRCm39)	missense	possibly damaging	0.94
Z1177:Mcc	UTSW	18	44,624,313 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GGCAGCCATCTATGACCTACTTGAC -3'
(R):5'- ACCCATGAGACTCAGAAGGGTGAC -3'

Sequencing Primer
(F):5'- atgagaaggcaaggcgg -3'
(R):5'- TCAGAAGGGTGACCATCTGC -3'

Posted On

2013-07-11