Mutagenetix > Incidental Mutation

Incidental Mutation 'R9590:Mcc'

722986

Institutional Source

Beutler Lab

Gene Symbol

Mcc

Ensembl Gene

ENSMUSG00000071856

Gene Name

mutated in colorectal cancers

Synonyms

D18Ertd451e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9590 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44558127-44945249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44592977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 686 (N686S)

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: N686S

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087318
Gene: ENSMUSG00000071856
AA Change: N686S

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: N511S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128032
Gene: ENSMUSG00000071856
AA Change: N511S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,876,506 (GRCm39)	T1087A	probably benign	Het
Aopep	A	G	13: 63,208,923 (GRCm39)	T347A	probably benign	Het
Atp8b2	A	T	3: 89,865,693 (GRCm39)	L69*	probably null	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
C130073F10Rik	G	A	4: 101,747,618 (GRCm39)	T137I	probably benign	Het
C9orf72	C	T	4: 35,218,557 (GRCm39)	G101R		Het
Cacna1a	C	T	8: 85,328,610 (GRCm39)	Q1683*	probably null	Het
Calml4	A	G	9: 62,782,810 (GRCm39)	Y139C	probably benign	Het
Cd33	T	A	7: 43,179,637 (GRCm39)	I264F	probably benign	Het
Cfi	A	T	3: 129,642,461 (GRCm39)	H105L	probably benign	Het
Cnr1	G	T	4: 33,944,849 (GRCm39)	M412I	probably benign	Het
Cyp2j11	T	A	4: 96,195,614 (GRCm39)	M361L	probably benign	Het
Dnase2b	A	T	3: 146,290,323 (GRCm39)	V216D	probably benign	Het
Eif1	C	T	11: 100,210,867 (GRCm39)		probably benign	Het
Faap100	G	A	11: 120,269,545 (GRCm39)		probably benign	Het
Fkbp10	A	T	11: 100,306,785 (GRCm39)	Q59L	probably damaging	Het
Galnt13	G	T	2: 54,747,973 (GRCm39)	V285F	probably benign	Het
Gm32742	A	G	9: 51,050,461 (GRCm39)	F1510S	possibly damaging	Het
Klhl33	T	G	14: 51,130,042 (GRCm39)	D224A	probably benign	Het
Man1a	A	G	10: 53,784,060 (GRCm39)	F607S	probably damaging	Het
Mlip	A	G	9: 77,045,834 (GRCm39)	M882T	probably benign	Het
Mmp9	T	A	2: 164,790,834 (GRCm39)	M74K	probably benign	Het
Nek10	C	A	14: 14,853,888 (GRCm38)	S358Y	probably damaging	Het
Or51a7	T	C	7: 102,614,553 (GRCm39)	L82P	probably benign	Het
Or5b12b	T	C	19: 12,861,980 (GRCm39)	V245A	probably benign	Het
Or8g29-ps1	A	T	9: 39,201,076 (GRCm39)	C37S	unknown	Het
Padi1	T	C	4: 140,544,552 (GRCm39)	D547G	probably damaging	Het
Pcbp4	T	C	9: 106,340,400 (GRCm39)	S332P	possibly damaging	Het
Pde2a	A	G	7: 101,160,757 (GRCm39)	I909V	probably benign	Het
Ppil6	T	C	10: 41,366,478 (GRCm39)	M1T	probably null	Het
Proser2	A	G	2: 6,105,794 (GRCm39)	S257P	probably benign	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Scn9a	A	G	2: 66,314,328 (GRCm39)	F1797L	probably benign	Het
Sfmbt1	T	C	14: 30,512,727 (GRCm39)	L360P	probably damaging	Het
Tab1	A	T	15: 80,040,097 (GRCm39)	N306Y	probably damaging	Het
Tob2	A	C	15: 81,735,068 (GRCm39)	F300L	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
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
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
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'- AAATCACACAGTCTCCTGGAG -3'
(R):5'- CCAAGGGATGCCTTCCTATC -3'

Sequencing Primer
(F):5'- ACAGTCTCCTGGAGTGGGC -3'
(R):5'- GAGCACAAGCCTCCTTCCTCAG -3'

Posted On

2022-08-09