Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00334:Mamdc2'

3219

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mamdc2

Ensembl Gene

ENSMUSG00000033207

Gene Name

MAM domain containing 2

Synonyms

mamcan, 1200015L10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

IGL00334

Quality Score

Status

Chromosome

Chromosomal Location

23279973-23425806 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 23356138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 103 (Y103*)

Ref Sequence

ENSEMBL: ENSMUSP00000045432 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000036069
AA Change: Y103*

SMART Domains

Protein: ENSMUSP00000045432
Gene: ENSMUSG00000033207
AA Change: Y103*

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsb	T	G	13: 94,075,787 (GRCm39)	H423Q	probably benign	Het
Bltp2	T	A	11: 78,160,400 (GRCm39)	L620I	possibly damaging	Het
Ces1f	T	C	8: 93,994,620 (GRCm39)	T264A	probably benign	Het
Clcn6	C	A	4: 148,102,359 (GRCm39)		probably null	Het
Cyb5r3	C	A	15: 83,044,605 (GRCm39)	A138S	probably benign	Het
Cyp3a57	A	T	5: 145,307,834 (GRCm39)	N197Y	probably damaging	Het
Dctn2	A	G	10: 127,113,559 (GRCm39)		probably benign	Het
Dnmt1	C	T	9: 20,821,566 (GRCm39)	A1197T	possibly damaging	Het
Dock2	T	C	11: 34,595,488 (GRCm39)	D436G	probably damaging	Het
Drd4	A	G	7: 140,872,096 (GRCm39)	N49S	probably damaging	Het
Dst	T	A	1: 34,205,373 (GRCm39)	V521D	probably damaging	Het
Eif5b	T	C	1: 38,080,800 (GRCm39)	S714P	probably damaging	Het
Glis3	A	G	19: 28,517,664 (GRCm39)	I178T	probably damaging	Het
Gm11565	T	A	11: 99,806,021 (GRCm39)	C138S	possibly damaging	Het
H1f8	T	A	6: 115,924,588 (GRCm39)		probably benign	Het
Hdx	T	A	X: 110,492,578 (GRCm39)	I623F	probably benign	Het
Huwe1	T	G	X: 150,668,623 (GRCm39)	L843V	probably damaging	Het
Hyal2	T	C	9: 107,447,604 (GRCm39)	Y86H	probably damaging	Het
Irf7	A	T	7: 140,844,553 (GRCm39)	S157T	probably benign	Het
Jmjd4	T	A	11: 59,346,140 (GRCm39)	M331K	probably damaging	Het
Kdm2a	A	T	19: 4,406,926 (GRCm39)	D112E	possibly damaging	Het
Map2k3	T	C	11: 60,834,041 (GRCm39)	V77A	possibly damaging	Het
Mideas	G	A	12: 84,219,629 (GRCm39)	R442*	probably null	Het
Mprip	T	A	11: 59,639,417 (GRCm39)	D403E	probably benign	Het
Mutyh	T	A	4: 116,676,516 (GRCm39)	V496D	possibly damaging	Het
Nbeal1	T	C	1: 60,321,042 (GRCm39)	V2051A	probably damaging	Het
Nbeal1	T	C	1: 60,367,262 (GRCm39)	L2575P	probably damaging	Het
Or10j5	T	G	1: 172,785,158 (GRCm39)	S265R	possibly damaging	Het
Or51a6	T	C	7: 102,604,311 (GRCm39)	K173E	probably benign	Het
Pcdhb6	T	A	18: 37,467,277 (GRCm39)	I66N	probably damaging	Het
Pck2	T	C	14: 55,780,098 (GRCm39)	Y89H	probably benign	Het
Poglut3	T	A	9: 53,309,330 (GRCm39)		probably benign	Het
Poglut3	C	A	9: 53,309,328 (GRCm39)		probably benign	Het
Polr3e	C	T	7: 120,540,034 (GRCm39)	Q594*	probably null	Het
Ptpro	T	G	6: 137,371,907 (GRCm39)		probably null	Het
Rfx4	A	G	10: 84,615,917 (GRCm39)	K28E	possibly damaging	Het
Shox2	T	C	3: 66,888,774 (GRCm39)	E39G	possibly damaging	Het
Slc22a16	A	T	10: 40,449,930 (GRCm39)	D122V	probably benign	Het
Smr3a	A	C	5: 88,155,919 (GRCm39)		probably benign	Het
Spmip8	G	A	8: 96,039,676 (GRCm39)	R31H	probably damaging	Het
Taf4	G	T	2: 179,618,418 (GRCm39)	L8M	unknown	Het
Tbkbp1	T	A	11: 97,028,474 (GRCm39)		probably benign	Het
Tmem120b	G	T	5: 123,253,230 (GRCm39)	E210D	probably damaging	Het
Tmem120b	A	T	5: 123,253,229 (GRCm39)		probably null	Het
Trim21	C	T	7: 102,208,805 (GRCm39)	V305M	probably damaging	Het
Ube4a	A	T	9: 44,859,439 (GRCm39)	L353Q	probably damaging	Het
Zfyve1	A	T	12: 83,621,572 (GRCm39)	N274K	probably benign	Het

Other mutations in Mamdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Mamdc2	APN	19	23,330,680 (GRCm39)	missense	possibly damaging	0.89
IGL01105:Mamdc2	APN	19	23,308,366 (GRCm39)	missense	probably benign	0.36
IGL02223:Mamdc2	APN	19	23,336,507 (GRCm39)	splice site	probably benign
IGL02511:Mamdc2	APN	19	23,356,095 (GRCm39)	missense	probably benign	0.00
IGL02632:Mamdc2	APN	19	23,308,340 (GRCm39)	missense	probably benign	0.03
IGL02832:Mamdc2	APN	19	23,281,215 (GRCm39)	missense	probably damaging	0.99
R0071:Mamdc2	UTSW	19	23,280,994 (GRCm39)	nonsense	probably null
R0121:Mamdc2	UTSW	19	23,288,223 (GRCm39)	missense	probably benign	0.01
R0732:Mamdc2	UTSW	19	23,356,233 (GRCm39)	missense	probably damaging	0.98
R1023:Mamdc2	UTSW	19	23,288,271 (GRCm39)	missense	probably damaging	1.00
R1860:Mamdc2	UTSW	19	23,336,517 (GRCm39)	missense	probably damaging	0.98
R1861:Mamdc2	UTSW	19	23,336,517 (GRCm39)	missense	probably damaging	0.98
R1996:Mamdc2	UTSW	19	23,341,289 (GRCm39)	nonsense	probably null
R2012:Mamdc2	UTSW	19	23,288,215 (GRCm39)	missense	probably benign	0.00
R2016:Mamdc2	UTSW	19	23,311,393 (GRCm39)	missense	probably damaging	0.98
R2266:Mamdc2	UTSW	19	23,281,267 (GRCm39)	splice site	probably benign
R2267:Mamdc2	UTSW	19	23,281,267 (GRCm39)	splice site	probably benign
R2269:Mamdc2	UTSW	19	23,281,267 (GRCm39)	splice site	probably benign
R3085:Mamdc2	UTSW	19	23,288,296 (GRCm39)	missense	possibly damaging	0.80
R4235:Mamdc2	UTSW	19	23,351,381 (GRCm39)	missense	possibly damaging	0.94
R4672:Mamdc2	UTSW	19	23,328,148 (GRCm39)	missense	probably damaging	1.00
R5074:Mamdc2	UTSW	19	23,356,160 (GRCm39)	missense	probably benign	0.01
R5084:Mamdc2	UTSW	19	23,336,516 (GRCm39)	missense	possibly damaging	0.95
R5521:Mamdc2	UTSW	19	23,288,302 (GRCm39)	missense	probably damaging	1.00
R6119:Mamdc2	UTSW	19	23,330,679 (GRCm39)	missense	probably damaging	1.00
R6334:Mamdc2	UTSW	19	23,341,270 (GRCm39)	missense	probably damaging	1.00
R6557:Mamdc2	UTSW	19	23,288,209 (GRCm39)	missense	possibly damaging	0.80
R6676:Mamdc2	UTSW	19	23,280,997 (GRCm39)	missense	probably damaging	1.00
R7218:Mamdc2	UTSW	19	23,424,974 (GRCm39)	missense	probably benign	0.00
R7616:Mamdc2	UTSW	19	23,328,168 (GRCm39)	missense	probably damaging	1.00
R7627:Mamdc2	UTSW	19	23,288,355 (GRCm39)	missense	probably damaging	0.99
R8101:Mamdc2	UTSW	19	23,311,393 (GRCm39)	missense	probably damaging	0.98
R9679:Mamdc2	UTSW	19	23,351,380 (GRCm39)	missense	probably benign	0.19
Z1176:Mamdc2	UTSW	19	23,311,421 (GRCm39)	missense	possibly damaging	0.69

Posted On

2012-04-20