Mutagenetix > Incidental Mutation

Incidental Mutation 'R1023:Mamdc2'

94678

Institutional Source

Beutler Lab

Gene Symbol

Mamdc2

Ensembl Gene

ENSMUSG00000033207

Gene Name

MAM domain containing 2

Synonyms

1200015L10Rik, mamcan

MMRRC Submission

039125-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R1023 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23302609-23448322 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23310907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 589 (M589K)

Ref Sequence

ENSEMBL: ENSMUSP00000045432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036069]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000036069
AA Change: M589K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045432
Gene: ENSMUSG00000033207
AA Change: M589K

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
MAM	21	169	3.15e-12	SMART
MAM	170	329	9.26e-42	SMART
MAM	337	498	1.07e-32	SMART
MAM	504	666	3.55e-61	SMART

Meta Mutation Damage Score

0.9318

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,066,871	A607V	probably damaging	Het
4930523C07Rik	A	G	1: 160,077,487		probably benign	Het
Ap3d1	A	T	10: 80,714,258	L713Q	probably damaging	Het
Baz2a	A	G	10: 128,121,807	T1010A	possibly damaging	Het
Cd163l1	T	A	7: 140,224,463	C484S	possibly damaging	Het
Cdh15	T	C	8: 122,865,200	I608T	probably damaging	Het
Cdkl2	A	T	5: 92,039,286	D40E	possibly damaging	Het
Col9a2	G	A	4: 121,044,010	G118R	unknown	Het
Cryge	C	A	1: 65,050,786	C79F	probably damaging	Het
Dapk1	T	C	13: 60,730,985	L596P	probably damaging	Het
Dqx1	G	A	6: 83,061,089	C486Y	probably damaging	Het
Enam	A	G	5: 88,501,967	Q445R	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably benign	Het
Gnpat	A	T	8: 124,870,780	D27V	probably benign	Het
Htr5a	A	T	5: 27,842,998	T184S	possibly damaging	Het
Lap3	C	T	5: 45,495,211	P50S	probably benign	Het
Mast4	A	G	13: 102,735,496	S2263P	probably benign	Het
Mef2b	C	T	8: 70,165,597	P109L	possibly damaging	Het
Meltf	T	A	16: 31,884,960	F168L	probably damaging	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Nup205	T	A	6: 35,234,706	F1661I	probably damaging	Het
Olfr187	A	T	16: 59,035,815	N307K	probably benign	Het
Olfr747	A	T	14: 50,681,016	L206H	probably damaging	Het
Plac8	A	T	5: 100,556,581	D83E	probably benign	Het
Pnpt1	T	C	11: 29,141,328		probably benign	Het
Pold2	G	T	11: 5,875,140	Q86K	probably benign	Het
Ptprt	A	G	2: 161,558,943	L1057P	probably damaging	Het
Rev3l	A	G	10: 39,832,639	H2284R	probably damaging	Het
Skint6	A	C	4: 113,238,103	S120A	probably benign	Het
Slc1a7	G	A	4: 108,007,573	V270M	probably damaging	Het
Spata2	A	G	2: 167,485,222	M85T	probably benign	Het
Taf1b	G	T	12: 24,509,559		probably benign	Het
Tert	A	G	13: 73,642,059	N844S	probably benign	Het
Thrap3	G	A	4: 126,180,089	S288L	possibly damaging	Het
Ubap2l	A	G	3: 90,047,873		probably benign	Het
Ubtf	T	C	11: 102,311,450	E197G	possibly damaging	Het
Usp20	G	T	2: 31,007,813	G216W	probably damaging	Het
Wdr60	T	C	12: 116,232,657	E490G	probably damaging	Het
Yy1	T	A	12: 108,793,531	V40E	unknown	Het
Zfp335	G	A	2: 164,892,585	H1254Y	possibly damaging	Het

Other mutations in Mamdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Mamdc2	APN	19	23378774	nonsense	probably null
IGL00588:Mamdc2	APN	19	23353316	missense	possibly damaging	0.89
IGL01105:Mamdc2	APN	19	23331002	missense	probably benign	0.36
IGL02223:Mamdc2	APN	19	23359143	splice site	probably benign
IGL02511:Mamdc2	APN	19	23378731	missense	probably benign	0.00
IGL02632:Mamdc2	APN	19	23330976	missense	probably benign	0.03
IGL02832:Mamdc2	APN	19	23303851	missense	probably damaging	0.99
R0071:Mamdc2	UTSW	19	23303630	nonsense	probably null
R0121:Mamdc2	UTSW	19	23310859	missense	probably benign	0.01
R0732:Mamdc2	UTSW	19	23378869	missense	probably damaging	0.98
R1860:Mamdc2	UTSW	19	23359153	missense	probably damaging	0.98
R1861:Mamdc2	UTSW	19	23359153	missense	probably damaging	0.98
R1996:Mamdc2	UTSW	19	23363925	nonsense	probably null
R2012:Mamdc2	UTSW	19	23310851	missense	probably benign	0.00
R2016:Mamdc2	UTSW	19	23334029	missense	probably damaging	0.98
R2266:Mamdc2	UTSW	19	23303903	splice site	probably benign
R2267:Mamdc2	UTSW	19	23303903	splice site	probably benign
R2269:Mamdc2	UTSW	19	23303903	splice site	probably benign
R3085:Mamdc2	UTSW	19	23310932	missense	possibly damaging	0.80
R4235:Mamdc2	UTSW	19	23374017	missense	possibly damaging	0.94
R4672:Mamdc2	UTSW	19	23350784	missense	probably damaging	1.00
R5074:Mamdc2	UTSW	19	23378796	missense	probably benign	0.01
R5084:Mamdc2	UTSW	19	23359152	missense	possibly damaging	0.95
R5521:Mamdc2	UTSW	19	23310938	missense	probably damaging	1.00
R6119:Mamdc2	UTSW	19	23353315	missense	probably damaging	1.00
R6334:Mamdc2	UTSW	19	23363906	missense	probably damaging	1.00
R6557:Mamdc2	UTSW	19	23310845	missense	possibly damaging	0.80
R6676:Mamdc2	UTSW	19	23303633	missense	probably damaging	1.00
R7218:Mamdc2	UTSW	19	23447610	missense	probably benign	0.00
R7616:Mamdc2	UTSW	19	23350804	missense	probably damaging	1.00
R7627:Mamdc2	UTSW	19	23310991	missense	probably damaging	0.99
R8101:Mamdc2	UTSW	19	23334029	missense	probably damaging	0.98
R9679:Mamdc2	UTSW	19	23374016	missense	probably benign	0.19
Z1176:Mamdc2	UTSW	19	23334057	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- TGTCCAAAGCGTTAGCTTCCTGTC -3'
(R):5'- ACAGCCAAAGTGGCTATGTTTCCAG -3'

Sequencing Primer
(F):5'- CAATTATCCGTTCACTGCTTAGAG -3'
(R):5'- GAAAGCACACCTTTTGTCCC -3'

Posted On

2014-01-05