Mutagenetix > Incidental Mutation

Incidental Mutation 'R6879:Mcc'

536579

Institutional Source

Beutler Lab

Gene Symbol

Mcc

Ensembl Gene

ENSMUSG00000071856

Gene Name

mutated in colorectal cancers

Synonyms

D18Ertd451e

MMRRC Submission

044975-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6879 (G1)

Quality Score

115.008

Status

Validated

Chromosome

Chromosomal Location

44558127-44945249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44945179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 18 (S18G)

Ref Sequence

ENSEMBL: ENSMUSP00000087318 (fasta)

Gene Model

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

AlphaFold

E9PWI3

Predicted Effect

unknown
Transcript: ENSMUST00000089874
AA Change: S18G

SMART Domains

Protein: ENSMUSP00000087318
Gene: ENSMUSG00000071856
AA Change: S18G

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (42/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	A	G	10: 80,442,621 (GRCm39)	D153G	probably damaging	Het
Agap1	A	T	1: 89,694,177 (GRCm39)	I492F	probably benign	Het
Arhgap31	G	A	16: 38,422,676 (GRCm39)	T1130I	probably benign	Het
Atg2a	T	A	19: 6,301,882 (GRCm39)	C923S	possibly damaging	Het
B3gnt8	C	A	7: 25,328,277 (GRCm39)	Q236K	probably benign	Het
Bptf	T	G	11: 106,933,516 (GRCm39)	I261L	probably benign	Het
Cacna1s	T	C	1: 136,043,697 (GRCm39)	F1592S	probably benign	Het
Catspere2	A	T	1: 177,926,338 (GRCm39)	T335S	possibly damaging	Het
Cops7a	A	T	6: 124,935,748 (GRCm39)		probably null	Het
Defb10	A	G	8: 22,351,898 (GRCm39)	I48V	probably benign	Het
Gabrg3	A	C	7: 57,031,387 (GRCm39)	L51R	probably damaging	Het
Gins2	G	A	8: 121,312,850 (GRCm39)	T96M	probably damaging	Het
Gm11568	A	G	11: 99,749,053 (GRCm39)	Q86R	unknown	Het
Il33	T	C	19: 29,936,362 (GRCm39)	V224A	probably damaging	Het
Kcnh3	C	A	15: 99,136,048 (GRCm39)	Q682K	probably damaging	Het
Kif19a	A	G	11: 114,672,159 (GRCm39)	I249V	probably benign	Het
Kif26a	T	C	12: 112,144,087 (GRCm39)	V1447A	probably benign	Het
Klhdc10	T	A	6: 30,449,589 (GRCm39)	M217K	probably damaging	Het
Mical1	A	T	10: 41,360,515 (GRCm39)	Q651H	probably damaging	Het
Mpdz	G	A	4: 81,266,893 (GRCm39)	T340I	possibly damaging	Het
Or5b95	T	C	19: 12,658,135 (GRCm39)	I221T	probably benign	Het
Or6c202	T	G	10: 128,996,848 (GRCm39)	K2Q	probably benign	Het
Pira12	A	T	7: 3,899,961 (GRCm39)	S214T	probably benign	Het
Plekha6	A	T	1: 133,187,793 (GRCm39)	M105L	possibly damaging	Het
Ppp4r4	T	A	12: 103,518,179 (GRCm39)		probably null	Het
Samd12	T	C	15: 53,521,826 (GRCm39)	N128S	probably benign	Het
Six6	A	G	12: 72,987,298 (GRCm39)	K157E	probably benign	Het
Slc13a3	C	A	2: 165,272,221 (GRCm39)	G274V	probably damaging	Het
Slc25a54	T	A	3: 109,020,150 (GRCm39)	V388E	possibly damaging	Het
Smad2	A	G	18: 76,395,725 (GRCm39)	T55A	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spats2	T	C	15: 99,071,293 (GRCm39)	V39A	probably damaging	Het
Stk32b	A	G	5: 37,647,867 (GRCm39)	I167T	possibly damaging	Het
Taf1b	T	A	12: 24,550,516 (GRCm39)	C34S	possibly damaging	Het
Tex2	T	C	11: 106,424,836 (GRCm39)	E812G	unknown	Het
Tlcd2	T	A	11: 75,360,514 (GRCm39)	W186R	probably damaging	Het
Txn2	G	A	15: 77,803,922 (GRCm39)		probably benign	Het
Uggt2	T	C	14: 119,239,271 (GRCm39)	K1387R	probably benign	Het
Unc79	T	A	12: 103,115,046 (GRCm39)		probably null	Het
Usp21	T	C	1: 171,110,077 (GRCm39)	D538G	probably damaging	Het
Zfp109	C	T	7: 23,928,615 (GRCm39)	E265K	probably benign	Het
Zfp263	A	G	16: 3,567,719 (GRCm39)	H390R	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
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'- AGGTAGCTCTGGAAAGCATC -3'
(R):5'- CTTTCAGGTAGGCATCCCAG -3'

Sequencing Primer
(F):5'- GAAAGCATCCAGAGCGGCC -3'
(R):5'- ACTTGGGCGATTCCTGGAC -3'

Posted On

2018-10-18