Mutagenetix > Incidental Mutation

Incidental Mutation 'R4135:Mcc'

314873

Institutional Source

Beutler Lab

Gene Symbol

Mcc

Ensembl Gene

ENSMUSG00000071856

Gene Name

mutated in colorectal cancers

Synonyms

D18Ertd451e

MMRRC Submission

040995-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44558127-44945249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44857707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 136 (D136G)

Ref Sequence

ENSEMBL: ENSMUSP00000087318 (fasta)

Gene Model

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

AlphaFold

E9PWI3

Predicted Effect

probably benign
Transcript: ENSMUST00000089874
AA Change: D136G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000087318
Gene: ENSMUSG00000071856
AA Change: D136G

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

noncoding transcript
Transcript: ENSMUST00000201270

Meta Mutation Damage Score

0.0615

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (47/48)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 159,905,092 (GRCm39)		probably benign	Het
Bak1	T	A	17: 27,240,244 (GRCm39)	T148S	possibly damaging	Het
Cdc25a	C	A	9: 109,710,585 (GRCm39)	H157Q	possibly damaging	Het
Chst5	T	C	8: 112,616,816 (GRCm39)	Y268C	probably damaging	Het
Csnk1g2	T	C	10: 80,474,130 (GRCm39)	I145T	possibly damaging	Het
Ctsr	T	C	13: 61,309,084 (GRCm39)	T224A	probably benign	Het
Cux1	T	C	5: 136,336,750 (GRCm39)	K921E	probably damaging	Het
Dcaf12l1	T	C	X: 43,878,330 (GRCm39)	N156S	probably damaging	Het
Dennd2d	T	A	3: 106,389,977 (GRCm39)	D2E	probably benign	Het
Dock2	T	C	11: 34,605,328 (GRCm39)	K264E	possibly damaging	Het
Eif3c	C	G	7: 126,165,471 (GRCm39)		probably benign	Het
Gabrb3	G	T	7: 57,241,036 (GRCm39)	A5S	probably benign	Het
Gcnt2	T	A	13: 41,041,283 (GRCm39)	N147K	probably damaging	Het
Gm6987	T	A	X: 93,068,216 (GRCm39)		noncoding transcript	Het
Hbp1	A	T	12: 31,984,421 (GRCm39)	L262Q	probably damaging	Het
Hsd11b2	T	C	8: 106,249,798 (GRCm39)	V303A	probably benign	Het
Htr5a	A	G	5: 28,047,690 (GRCm39)	M82V	probably benign	Het
Mrpl32	C	T	13: 14,787,564 (GRCm39)	V14M	probably damaging	Het
Msl1	A	G	11: 98,687,126 (GRCm39)	D157G	possibly damaging	Het
Mthfd1	G	A	12: 76,329,648 (GRCm39)		probably null	Het
Nkx6-1	T	A	5: 101,807,371 (GRCm39)	D337V	probably damaging	Het
Nlrp5	T	C	7: 23,117,823 (GRCm39)	W516R	possibly damaging	Het
Or2ag1	A	G	7: 106,313,210 (GRCm39)	L226P	probably damaging	Het
Or2l13b	T	A	16: 19,349,452 (GRCm39)	I73F	possibly damaging	Het
Or2y3	A	G	17: 38,393,248 (GRCm39)	V207A	possibly damaging	Het
Or4l1	T	C	14: 50,166,272 (GRCm39)	H243R	probably damaging	Het
Or5af1	C	A	11: 58,722,820 (GRCm39)	T280K	probably damaging	Het
Pate5	A	G	9: 35,750,724 (GRCm39)	S33P	possibly damaging	Het
Pold3	T	A	7: 99,749,854 (GRCm39)	R104*	probably null	Het
Rapsn	A	T	2: 90,867,162 (GRCm39)	N155Y	probably damaging	Het
Rorc	C	A	3: 94,296,826 (GRCm39)	Q269K	probably damaging	Het
Rreb1	A	T	13: 38,131,099 (GRCm39)	N1418Y	probably damaging	Het
Rusc2	G	A	4: 43,425,563 (GRCm39)	D1223N	possibly damaging	Het
Sema6d	T	C	2: 124,506,040 (GRCm39)	I616T	probably damaging	Het
Ttc6	T	A	12: 57,679,581 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,338,810 (GRCm39)	Y58F	probably damaging	Het
Vmn2r129	T	G	4: 156,691,085 (GRCm39)		noncoding transcript	Het
Vwa5b1	A	T	4: 138,321,641 (GRCm39)	M384K	possibly damaging	Het
Washc3	G	A	10: 88,055,142 (GRCm39)	E111K	probably benign	Het
Xirp2	A	G	2: 67,355,741 (GRCm39)	S3501G	probably benign	Het
Zfp1004	A	T	2: 150,023,788 (GRCm39)		probably benign	Het
Zfp352	C	T	4: 90,113,261 (GRCm39)	T467M	probably damaging	Het
Zfp729a	C	A	13: 67,767,925 (GRCm39)	C768F	probably damaging	Het
Zfp810	T	C	9: 22,190,369 (GRCm39)	K180E	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
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'- GAGAAGTACTCACGGTGCTG -3'
(R):5'- AGGCTTCCCTTGTGTCAATTTG -3'

Sequencing Primer
(F):5'- TACTCACGGTGCTGGCCAG -3'
(R):5'- GCTTCCCTTGTGTCAATTTGAAAGAG -3'

Posted On

2015-05-14