Mutagenetix > Incidental Mutation

Incidental Mutation 'R8092:Mcc'

629961

Institutional Source

Beutler Lab

Gene Symbol

Mcc

Ensembl Gene

ENSMUSG00000071856

Gene Name

mutated in colorectal cancers

Synonyms

D18Ertd451e

MMRRC Submission

067524-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44558127-44945249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44892299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 105 (T105I)

Ref Sequence

ENSEMBL: ENSMUSP00000087318 (fasta)

Gene Model

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

AlphaFold

E9PWI3

Predicted Effect

probably benign
Transcript: ENSMUST00000089874
AA Change: T105I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000087318
Gene: ENSMUSG00000071856
AA Change: T105I

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.2%
20x: 97.5%

Validation Efficiency

100% (40/40)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	T	C	12: 88,427,831 (GRCm39)	S483P	possibly damaging	Het
Agr3	T	A	12: 35,997,593 (GRCm39)		probably null	Het
Anxa4	T	C	6: 86,718,873 (GRCm39)	D282G	probably damaging	Het
Aplp2	A	C	9: 31,074,640 (GRCm39)		probably null	Het
Arfgef2	G	A	2: 166,701,754 (GRCm39)	V714M	probably damaging	Het
Cep295	A	T	9: 15,244,278 (GRCm39)	F1393I	probably benign	Het
Cfap206	G	A	4: 34,728,897 (GRCm39)	P3S	possibly damaging	Het
Chd5	T	A	4: 152,463,261 (GRCm39)	D1410E	probably damaging	Het
Chd8	T	C	14: 52,455,184 (GRCm39)	Y1101C	probably damaging	Het
Chtf8	A	G	8: 107,612,938 (GRCm39)	V121A	possibly damaging	Het
Dnajc3	A	T	14: 119,207,994 (GRCm39)		probably null	Het
Dpys	C	T	15: 39,710,010 (GRCm39)	D140N	probably benign	Het
Dsg1c	A	G	18: 20,415,029 (GRCm39)	Y642C	probably damaging	Het
Eif2ak4	G	A	2: 118,272,513 (GRCm39)	V901I	probably damaging	Het
Gm45861	T	C	8: 28,057,823 (GRCm39)	M1127T	unknown	Het
Gnpnat1	A	G	14: 45,618,388 (GRCm39)		probably null	Het
Hsd3b6	T	A	3: 98,713,456 (GRCm39)	D281V	possibly damaging	Het
Kng2	T	A	16: 22,806,672 (GRCm39)	Q509L	probably benign	Het
Lipo2	A	T	19: 33,726,880 (GRCm39)	D52E	probably benign	Het
Ly6g6c	A	G	17: 35,287,867 (GRCm39)	Y27C	probably damaging	Het
Neurl4	A	G	11: 69,801,891 (GRCm39)	K1279E	probably benign	Het
Ntmt2	A	G	1: 163,544,819 (GRCm39)	Y55H	probably damaging	Het
Ntn4	A	C	10: 93,576,918 (GRCm39)	K529Q	probably damaging	Het
Or4f57	C	A	2: 111,790,652 (GRCm39)	M255I	probably benign	Het
P2ry14	C	T	3: 59,022,867 (GRCm39)	V198M	probably damaging	Het
Pclo	T	A	5: 14,727,560 (GRCm39)	D2139E	unknown	Het
Plxnb1	T	A	9: 108,929,573 (GRCm39)	V143E	probably damaging	Het
Prune2	G	T	19: 17,097,357 (GRCm39)	D954Y	probably damaging	Het
Qrsl1	G	A	10: 43,760,749 (GRCm39)	P278L	probably damaging	Het
Rnf17	C	T	14: 56,724,479 (GRCm39)	R1108C	probably benign	Het
Sipa1l2	T	C	8: 126,145,907 (GRCm39)	S1716G	probably benign	Het
Slfn4	A	T	11: 83,079,831 (GRCm39)	H507L	probably benign	Het
Snx18	T	C	13: 113,753,685 (GRCm39)	E416G	probably damaging	Het
Srp9	T	C	1: 181,959,001 (GRCm39)	V81A	probably benign	Het
Tex101	G	A	7: 24,369,778 (GRCm39)	T62M	probably damaging	Het
Utp25	G	A	1: 192,802,671 (GRCm39)	L349F	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Zbtb42	G	T	12: 112,646,275 (GRCm39)	C150F	probably 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
R0604:Mcc	UTSW	18	44,606,823 (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
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'- CCATTGGAGAGAAGCTGTCAC -3'
(R):5'- TGACACGGTCTCCTGTGTTC -3'

Sequencing Primer
(F):5'- TGTCACCAGGAGGGAATTCC -3'
(R):5'- CCACAGGAATGACTTGCTAATGGTC -3'

Posted On

2020-06-30