Mutagenetix > Incidental Mutation

Incidental Mutation 'R6119:Mamdc2'

485688

Institutional Source

Beutler Lab

Gene Symbol

Mamdc2

Ensembl Gene

ENSMUSG00000033207

Gene Name

MAM domain containing 2

Synonyms

mamcan, 1200015L10Rik

MMRRC Submission

044429-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R6119 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23279973-23425806 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23330679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 376 (T376M)

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: T376M

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

SMART Domains

Protein: ENSMUSP00000045432
Gene: ENSMUSG00000033207
AA Change: T376M

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

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,265,138 (GRCm39)	R97*	probably null	Het
4930544D05Rik	G	A	11: 70,507,317 (GRCm39)	A121T	probably damaging	Het
Abtb2	A	T	2: 103,532,655 (GRCm39)	E484D	probably benign	Het
Ankk1	A	T	9: 49,338,183 (GRCm39)	W37R	possibly damaging	Het
Arhgap11a	C	A	2: 113,664,695 (GRCm39)	M529I	probably benign	Het
Btd	G	A	14: 31,363,065 (GRCm39)		probably benign	Het
Ddx47	T	C	6: 135,000,318 (GRCm39)	I438T	probably benign	Het
Dnhd1	A	G	7: 105,358,647 (GRCm39)	T3379A	probably benign	Het
Dusp3	A	G	11: 101,871,495 (GRCm39)		probably benign	Het
Dync1h1	A	G	12: 110,594,440 (GRCm39)	K1289E	possibly damaging	Het
Egf	A	T	3: 129,530,421 (GRCm39)	I247N	probably benign	Het
Erich1	A	G	8: 14,083,692 (GRCm39)	L126P	probably benign	Het
Fat3	T	A	9: 16,287,864 (GRCm39)	H553L	possibly damaging	Het
Gdpgp1	T	C	7: 79,888,740 (GRCm39)	L257P	probably damaging	Het
Gimap8	T	C	6: 48,635,888 (GRCm39)	I551T	possibly damaging	Het
Gnptab	C	A	10: 88,267,257 (GRCm39)	D449E	probably damaging	Het
Grb10	T	C	11: 11,883,551 (GRCm39)	D513G	probably damaging	Het
Grin1	T	G	2: 25,195,170 (GRCm39)	D283A	probably damaging	Het
Gtf2i	A	T	5: 134,315,911 (GRCm39)		probably null	Het
Ip6k3	A	G	17: 27,367,599 (GRCm39)	V199A	possibly damaging	Het
Kif17	T	A	4: 138,015,643 (GRCm39)	Y405*	probably null	Het
Lair1	T	C	7: 4,031,895 (GRCm39)	M71V	probably benign	Het
Msra	G	A	14: 64,678,183 (GRCm39)	R38C	probably damaging	Het
Mthfd1	A	T	12: 76,350,447 (GRCm39)	I462F	probably damaging	Het
Nbr1	A	G	11: 101,457,938 (GRCm39)		probably null	Het
Neb	A	G	2: 52,110,943 (GRCm39)	M181T	probably benign	Het
Noxo1	A	G	17: 24,915,545 (GRCm39)		probably benign	Het
Optn	C	A	2: 5,026,134 (GRCm39)		probably null	Het
Or10ag58	A	T	2: 87,265,733 (GRCm39)	K301*	probably null	Het
Or4c103	A	G	2: 88,513,935 (GRCm39)	I47T	probably damaging	Het
Or5k17	A	T	16: 58,746,895 (GRCm39)	I13N	possibly damaging	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Pclo	A	G	5: 14,727,033 (GRCm39)		probably benign	Het
Ppp1r16b	A	G	2: 158,593,047 (GRCm39)	I209V	probably benign	Het
Prss12	A	G	3: 123,283,258 (GRCm39)	I517V	possibly damaging	Het
Pwwp3a	A	G	10: 80,064,865 (GRCm39)	K32E	probably benign	Het
Ripor2	C	T	13: 24,798,627 (GRCm39)		probably benign	Het
Rmnd5b	A	G	11: 51,516,536 (GRCm39)	S274P	probably benign	Het
Sftpa1	T	A	14: 40,854,509 (GRCm39)	I32N	probably damaging	Het
Slc2a12	T	A	10: 22,541,246 (GRCm39)	I367N	probably damaging	Het
Sorcs1	T	C	19: 50,276,532 (GRCm39)	D340G	probably damaging	Het
Synj1	T	C	16: 90,735,877 (GRCm39)	K1359E	probably benign	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tcf12	T	A	9: 71,775,547 (GRCm39)	E421V	probably damaging	Het
Tecta	A	T	9: 42,284,371 (GRCm39)	F905I	probably benign	Het
Tmem106a	T	A	11: 101,474,576 (GRCm39)	C58*	probably null	Het
Tmem131l	A	T	3: 83,805,689 (GRCm39)	F1585I	probably damaging	Het
Tnks2	T	C	19: 36,856,752 (GRCm39)	S208P	possibly damaging	Het
Trim50	A	G	5: 135,382,274 (GRCm39)	N42S	probably benign	Het
Tsc22d2	T	A	3: 58,367,674 (GRCm39)		probably benign	Het
Ttll3	T	A	6: 113,371,702 (GRCm39)	L23H	probably damaging	Het
Vmn1r10	A	G	6: 57,091,218 (GRCm39)	Y270C	probably benign	Het
Ypel3	T	C	7: 126,377,537 (GRCm39)	V74A	possibly damaging	Het
Zfp677	A	G	17: 21,618,070 (GRCm39)	T376A	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGCAAATGCTTTGGGTAGC -3'
(R):5'- TGTAGCCATATCTGTCCAGTGTTTG -3'

Sequencing Primer
(F):5'- GGGTAGCACAGTATCTTGAATTAC -3'
(R):5'- ATGGAGTCCTCTGAGAATCCG -3'

Posted On

2017-08-16