Mutagenetix > Incidental Mutations

Incidental Mutation 'R0121:Mamdc2'

21064

Institutional Source

Beutler Lab

Gene Symbol

Mamdc2

Ensembl Gene

ENSMUSG00000033207

Gene Name

MAM domain containing 2

Synonyms

1200015L10Rik, mamcan

MMRRC Submission

038406-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R0121 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

23302609-23448322 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23310859 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 605 (E605V)

Ref Sequence

ENSEMBL: ENSMUSP00000045432 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036069
AA Change: E605V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000045432
Gene: ENSMUSG00000033207
AA Change: E605V

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

0.1158

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 89.8%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,259,786		probably null	Het
Adgra3	T	C	5: 50,025,786		probably benign	Het
Anxa7	A	T	14: 20,460,159	L386M	probably damaging	Het
Ap2b1	A	G	11: 83,321,967	M58V	possibly damaging	Het
Arfip2	A	G	7: 105,636,371	L224P	probably damaging	Het
Arhgap20	A	G	9: 51,838,951	N373S	possibly damaging	Het
Asph	T	C	4: 9,635,918	D73G	probably damaging	Het
Atp1a2	T	A	1: 172,289,342	E236V	probably damaging	Het
Atp2a1	A	G	7: 126,457,944	S170P	probably damaging	Het
Atp4a	C	G	7: 30,720,101	R659G	probably benign	Het
B4galnt3	C	T	6: 120,215,038	R578H	probably benign	Het
Ccdc178	C	A	18: 21,845,024		probably null	Het
Ccnh	T	A	13: 85,206,193	M252K	probably damaging	Het
Clec4b2	A	G	6: 123,204,172	D172G	probably benign	Het
Col1a1	A	G	11: 94,938,069	E79G	unknown	Het
Csf3r	A	G	4: 126,029,849	N51D	probably benign	Het
Cul7	C	T	17: 46,663,373	L1489F	probably damaging	Het
Cyp2b13	G	A	7: 26,086,585	C309Y	probably benign	Het
Dync2h1	A	T	9: 7,001,327		probably benign	Het
Edn1	A	G	13: 42,305,265	T135A	probably benign	Het
Ephb2	A	G	4: 136,771,057	I237T	probably damaging	Het
Fam111a	T	A	19: 12,584,080	F12L	probably benign	Het
Foxi2	C	A	7: 135,411,911	A290E	probably benign	Het
Gabra6	A	G	11: 42,314,971	S353P	probably benign	Het
Gm4847	T	C	1: 166,642,288	D72G	probably damaging	Het
Grhl3	A	G	4: 135,552,549	I398T	probably damaging	Het
Gtdc1	T	C	2: 44,565,538		probably benign	Het
Kel	A	C	6: 41,702,064		probably benign	Het
L3mbtl3	C	T	10: 26,313,870	D499N	unknown	Het
Lama1	T	A	17: 67,798,513		probably benign	Het
Nolc1	G	A	19: 46,081,378		probably benign	Het
Nudt12	A	T	17: 59,007,639	S317T	possibly damaging	Het
Olfr1085	A	G	2: 86,657,819	V213A	probably benign	Het
Olfr1153	A	G	2: 87,897,090	K297R	possibly damaging	Het
Olfr1277	A	T	2: 111,270,314	C18S	probably benign	Het
Olfr937	T	A	9: 39,059,760	K302M	probably damaging	Het
Optn	C	T	2: 5,024,115	G526R	probably damaging	Het
Pbld1	C	T	10: 63,071,503		probably benign	Het
Prl8a9	T	G	13: 27,560,606	N84T	probably benign	Het
Psph	T	A	5: 129,791,570		probably benign	Het
Sbf2	A	G	7: 110,489,219		probably null	Het
Senp6	A	G	9: 80,116,670	D405G	probably benign	Het
Serpinb1a	T	A	13: 32,848,771		probably benign	Het
Slc2a9	T	C	5: 38,398,743	I287V	probably benign	Het
Sptbn2	T	C	19: 4,745,293	F1593S	probably damaging	Het
Tcf21	T	C	10: 22,819,807	T33A	probably benign	Het
Tdrd3	A	T	14: 87,539,479	Q727L	probably damaging	Het
Tecpr1	C	T	5: 144,210,199	E450K	probably benign	Het
Tenm3	G	A	8: 48,342,659	T532I	probably damaging	Het
Tg	A	T	15: 66,740,781	Q396L	probably benign	Het
Tmtc3	A	G	10: 100,458,908		probably benign	Het
Twnk	T	C	19: 45,009,265		probably benign	Het
Ubac1	A	G	2: 26,008,859		probably null	Het
Ubn2	T	C	6: 38,452,858		probably benign	Het
Zfp944	T	A	17: 22,339,268	T333S	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
R0732:Mamdc2	UTSW	19	23378869	missense	probably damaging	0.98
R1023:Mamdc2	UTSW	19	23310907	missense	probably damaging	1.00
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
Z1176:Mamdc2	UTSW	19	23334057	missense	possibly damaging	0.69

Predicted Primers

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

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

Posted On

2013-04-11