Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02832:Mamdc2'

361464

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 #

IGL02832

Quality Score

Status

Chromosome

Chromosomal Location

23279973-23425806 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 23281215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 653 (A653T)

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: A653T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045432
Gene: ENSMUSG00000033207
AA Change: A653T

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	G	A	6: 92,784,156 (GRCm39)	T985M	probably damaging	Het
Alpk1	A	G	3: 127,473,592 (GRCm39)	S804P	possibly damaging	Het
Ap3b1	A	G	13: 94,664,835 (GRCm39)	I925V	unknown	Het
Cep135	T	A	5: 76,788,796 (GRCm39)	S1130T	probably damaging	Het
Cers3	A	T	7: 66,431,573 (GRCm39)	M183L	probably benign	Het
Col5a1	A	G	2: 27,842,352 (GRCm39)	E409G	unknown	Het
Cyp4a32	G	T	4: 115,471,818 (GRCm39)	V410F	probably damaging	Het
Ddx1	G	A	12: 13,277,318 (GRCm39)	Q528*	probably null	Het
Dio2	G	A	12: 90,696,178 (GRCm39)		probably benign	Het
Dnah9	G	T	11: 65,931,172 (GRCm39)	A2008E	probably damaging	Het
Dnajc2	A	G	5: 21,965,408 (GRCm39)	V457A	probably benign	Het
Dytn	T	C	1: 63,682,532 (GRCm39)	T372A	probably benign	Het
Fam135a	T	C	1: 24,067,714 (GRCm39)	I152V	probably benign	Het
Fmnl2	C	T	2: 52,748,261 (GRCm39)	A36V	possibly damaging	Het
Galnt7	G	A	8: 58,005,531 (GRCm39)	T234I	probably damaging	Het
Gba1	A	C	3: 89,110,809 (GRCm39)	I6L	probably benign	Het
Gja10	A	G	4: 32,602,147 (GRCm39)	V79A	probably damaging	Het
Gpd2	T	A	2: 57,228,991 (GRCm39)	V265E	probably damaging	Het
Gpld1	T	C	13: 25,136,861 (GRCm39)	Y60H	probably damaging	Het
H2bc27	A	G	11: 58,839,869 (GRCm39)	K35R	probably benign	Het
Heatr9	A	G	11: 83,409,672 (GRCm39)		probably benign	Het
Krt75	T	A	15: 101,476,508 (GRCm39)	D419V	probably benign	Het
Lrig3	A	T	10: 125,842,871 (GRCm39)	I599F	probably benign	Het
Lrp4	A	G	2: 91,341,925 (GRCm39)	D1846G	probably damaging	Het
Myo7a	A	T	7: 97,740,227 (GRCm39)		probably null	Het
Notch2	A	G	3: 98,044,689 (GRCm39)	D1537G	probably benign	Het
Or10k2	G	A	8: 84,268,100 (GRCm39)	C109Y	probably damaging	Het
Or51a25	G	T	7: 102,372,858 (GRCm39)	H280N	probably benign	Het
Or52ae7	A	T	7: 103,119,905 (GRCm39)	I220L	probably benign	Het
Papss1	A	C	3: 131,288,280 (GRCm39)	D84A	probably damaging	Het
Pcdhb16	T	A	18: 37,611,527 (GRCm39)	D162E	probably damaging	Het
Rab11fip1	C	T	8: 27,642,840 (GRCm39)	R653Q	possibly damaging	Het
Rap1gap2	A	T	11: 74,303,281 (GRCm39)		probably benign	Het
Rasal2	T	C	1: 156,984,777 (GRCm39)	D990G	probably damaging	Het
Rnf32	T	C	5: 29,410,701 (GRCm39)		probably null	Het
Rp1	T	C	1: 4,419,936 (GRCm39)	D392G	probably benign	Het
Scn9a	T	C	2: 66,398,373 (GRCm39)	D79G	probably damaging	Het
Selenon	A	T	4: 134,268,219 (GRCm39)	V438D	probably damaging	Het
Slc47a1	G	A	11: 61,254,239 (GRCm39)	H158Y	probably benign	Het
Slc5a12	A	T	2: 110,471,160 (GRCm39)	E463D	probably benign	Het
Taf2	C	T	15: 54,879,959 (GRCm39)	V1126M	probably benign	Het
Tas2r143	G	T	6: 42,377,259 (GRCm39)	V30L	possibly damaging	Het
Tcea3	G	A	4: 135,995,424 (GRCm39)	V256M	probably damaging	Het
Thy1	A	G	9: 43,958,111 (GRCm39)	T80A	probably benign	Het
Tmem9	A	G	1: 135,947,469 (GRCm39)	N47S	probably damaging	Het
Tmprss11g	T	C	5: 86,645,128 (GRCm39)	Q101R	probably benign	Het
Trim66	C	T	7: 109,059,704 (GRCm39)	C792Y	probably damaging	Het
Tstd2	A	T	4: 46,124,949 (GRCm39)	M226K	probably damaging	Het
Utrn	G	T	10: 12,613,937 (GRCm39)	T378K	possibly damaging	Het
Vmn2r23	A	G	6: 123,681,355 (GRCm39)	I88V	probably benign	Het

Other mutations in Mamdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Mamdc2	APN	19	23,356,138 (GRCm39)	nonsense	probably null
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
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

2015-12-18