Mutagenetix > Incidental Mutation

Incidental Mutation 'R1215:Mcc'

99606

Institutional Source

Beutler Lab

Gene Symbol

Mcc

Ensembl Gene

ENSMUSG00000071856

Gene Name

mutated in colorectal cancers

Synonyms

D18Ertd451e

MMRRC Submission

039284-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1215 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44558127-44945249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44601561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 589 (N589K)

Ref Sequence

ENSEMBL: ENSMUSP00000087318 (fasta)

Gene Model

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

AlphaFold

E9PWI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089874
AA Change: N589K

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087318
Gene: ENSMUSG00000071856
AA Change: N589K

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

possibly damaging
Transcript: ENSMUST00000164666
AA Change: N414K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128032
Gene: ENSMUSG00000071856
AA Change: N414K

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: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.5%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Art5	C	T	7: 101,747,116 (GRCm39)	R123H	probably damaging	Het
Azin2	A	G	4: 128,843,489 (GRCm39)	S66P	probably damaging	Het
Cep295	T	C	9: 15,239,178 (GRCm39)	E1865G	probably benign	Het
Ces1a	A	G	8: 93,759,318 (GRCm39)	C273R	probably damaging	Het
Cfap44	A	G	16: 44,239,666 (GRCm39)	Y571C	probably damaging	Het
Cntfr	C	A	4: 41,662,064 (GRCm39)	W226L	probably damaging	Het
Csmd3	A	T	15: 47,868,227 (GRCm39)		probably null	Het
Cyp2a4	C	T	7: 26,014,226 (GRCm39)	P468S	possibly damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
E130308A19Rik	T	A	4: 59,690,743 (GRCm39)	D192E	probably benign	Het
Fam184b	C	T	5: 45,741,520 (GRCm39)	R237H	probably damaging	Het
Fmn1	T	A	2: 113,523,375 (GRCm39)	Y1247*	probably null	Het
Grb14	T	C	2: 64,747,608 (GRCm39)	S18G	probably benign	Het
Hs2st1	G	A	3: 144,170,902 (GRCm39)	T90I	possibly damaging	Het
Mff	T	A	1: 82,719,609 (GRCm39)	S196T	probably benign	Het
Nyap1	C	T	5: 137,733,395 (GRCm39)	W546*	probably null	Het
Or13p10	A	T	4: 118,523,496 (GRCm39)	M261L	possibly damaging	Het
Ppp2r3d	A	G	9: 101,089,883 (GRCm39)	S147P	probably benign	Het
Rsph14	T	C	10: 74,860,898 (GRCm39)	H134R	probably benign	Het
Slc25a3	G	A	10: 90,953,170 (GRCm39)	A274V	possibly damaging	Het
Slc43a2	T	A	11: 75,453,688 (GRCm39)	W229R	probably damaging	Het
Slco4c1	C	A	1: 96,756,596 (GRCm39)	L575F	probably damaging	Het
Smyd4	T	A	11: 75,281,121 (GRCm39)	I198N	possibly damaging	Het
Trpm6	A	G	19: 18,773,862 (GRCm39)	D413G	probably damaging	Het
Ush2a	A	G	1: 188,689,479 (GRCm39)	T33A	possibly damaging	Het
Zfp871	A	T	17: 32,994,946 (GRCm39)	D57E	possibly damaging	Het
Zfyve9	T	C	4: 108,507,426 (GRCm39)	Q1176R	probably benign	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
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

Posted On

2014-01-15