Mutagenetix > Incidental Mutation

Incidental Mutation 'R2128:Mamdc4'

227690

Institutional Source

Beutler Lab

Gene Symbol

Mamdc4

Ensembl Gene

ENSMUSG00000026941

Gene Name

MAM domain containing 4

Synonyms

LOC381352

MMRRC Submission

040131-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R2128 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25563115-25574845 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25569258 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 195 (D195G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039156] [ENSMUST00000095117] [ENSMUST00000114223]

AlphaFold

A2AJA7

Predicted Effect

probably benign
Transcript: ENSMUST00000039156

SMART Domains

Protein: ENSMUSP00000037417
Gene: ENSMUSG00000036504

Domain	Start	End	E-Value	Type
Pfam:Ocnus	5	116	1e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095117
AA Change: D219G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: D219G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LDLa	32	58	7.33e-1	SMART
MAM	66	227	3.56e-52	SMART
LDLa	233	272	3.5e-9	SMART
MAM	254	430	3.87e-53	SMART
LDLa	461	497	2.63e-4	SMART
MAM	493	653	5.33e-5	SMART
MAM	660	819	3.68e-68	SMART
MAM	820	979	1.07e-28	SMART
MAM	980	1148	2.07e-62	SMART
transmembrane domain	1165	1187	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114223
AA Change: D215G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: D215G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	28	54	7.33e-1	SMART
MAM	62	223	3.56e-52	SMART
LDLa	229	268	3.5e-9	SMART
MAM	250	426	3.87e-53	SMART
LDLa	457	493	2.63e-4	SMART
MAM	489	649	5.33e-5	SMART
MAM	656	815	3.68e-68	SMART
MAM	816	975	1.07e-28	SMART
MAM	976	1144	2.07e-62	SMART
transmembrane domain	1161	1183	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152124

Predicted Effect

probably damaging
Transcript: ENSMUST00000152237
AA Change: D195G

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

SMART Domains

Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941
AA Change: D195G

Domain	Start	End	E-Value	Type
LDLa	9	35	7.33e-1	SMART
MAM	43	204	3.56e-52	SMART
LDLa	210	249	3.5e-9	SMART
MAM	231	407	3.87e-53	SMART
LDLa	438	474	2.63e-4	SMART
MAM	558	717	2.27e-68	SMART
MAM	718	877	1.07e-28	SMART
MAM	878	1046	2.07e-62	SMART
transmembrane domain	1063	1085	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,230,204	E249G	possibly damaging	Het
2610028H24Rik	A	G	10: 76,457,515	M136V	possibly damaging	Het
4930523C07Rik	A	T	1: 160,075,375	K72*	probably null	Het
Abca6	A	G	11: 110,219,649	I558T	probably benign	Het
Acot10	T	C	15: 20,666,626	T10A	probably benign	Het
Adgrl4	T	A	3: 151,500,201	D233E	probably benign	Het
Adgrv1	A	T	13: 81,557,080	F1537Y	probably damaging	Het
Akap2	A	G	4: 57,854,890	Y134C	probably benign	Het
Aqp3	T	A	4: 41,098,061	I17F	probably benign	Het
Arap1	T	A	7: 101,409,320	L1375H	probably damaging	Het
Aspm	T	C	1: 139,457,635	V339A	probably benign	Het
Atp13a3	G	A	16: 30,354,276	A261V	probably damaging	Het
Casp8ap2	T	C	4: 32,640,142	Y399H	probably benign	Het
Cept1	A	G	3: 106,512,879	V213A	probably damaging	Het
Cit	A	G	5: 115,985,507	D1469G	possibly damaging	Het
Cnga2	A	G	X: 72,007,788	Y182C	possibly damaging	Het
Cox20	A	G	1: 178,321,947	I54V	probably benign	Het
Dhx8	C	A	11: 101,738,409	D261E	probably benign	Het
Dnah2	A	T	11: 69,458,185	I2486N	probably benign	Het
Dnah5	A	G	15: 28,408,321	Q3484R	probably benign	Het
Drd1	T	C	13: 54,053,553	Y207C	probably damaging	Het
Dtl	C	T	1: 191,558,110	V222I	probably damaging	Het
Dync1h1	T	C	12: 110,640,882	Y2636H	probably damaging	Het
Endog	C	A	2: 30,172,036	D154E	probably benign	Het
Epc1	A	T	18: 6,462,954	V14E	probably damaging	Het
Ercc4	C	A	16: 13,147,934	T810K	probably damaging	Het
Fam43b	T	A	4: 138,395,988	N7I	possibly damaging	Het
Fgd1	T	C	X: 151,086,217		probably null	Het
Filip1	G	T	9: 79,819,330	T669N	probably damaging	Het
Fndc1	A	G	17: 7,778,665		probably benign	Het
Foxk1	C	A	5: 142,435,188	S189*	probably null	Het
Gatm	T	C	2: 122,600,536	N274S	probably damaging	Het
Gdf9	A	G	11: 53,437,507	Y430C	probably damaging	Het
Gga1	C	T	15: 78,888,448	P260S	probably damaging	Het
Gm11595	A	T	11: 99,772,501	C118S	unknown	Het
Gm382	G	T	X: 127,062,651	V820L	possibly damaging	Het
Gzmk	T	A	13: 113,172,014	I179F	probably damaging	Het
Hsp90b1	T	C	10: 86,695,706	D421G	probably damaging	Het
Hus1	A	G	11: 9,006,011	M174T	probably damaging	Het
Ifngr2	T	A	16: 91,562,873	Y289*	probably null	Het
Il6st	T	A	13: 112,504,175	H828Q	probably benign	Het
Impg2	T	A	16: 56,218,379	Y127N	probably damaging	Het
Irf3	T	A	7: 45,001,744	W345R	probably damaging	Het
Kif1b	G	A	4: 149,187,640	S1568L	possibly damaging	Het
Klhl42	A	G	6: 147,101,753	T342A	probably benign	Het
Kndc1	G	T	7: 139,930,112	R1289L	probably damaging	Het
Knl1	A	T	2: 119,071,819	T1334S	possibly damaging	Het
L3mbtl3	G	T	10: 26,313,868	D499E	unknown	Het
Ldhd	T	A	8: 111,627,048	M478L	probably benign	Het
Loxl4	C	G	19: 42,603,963	E385D	probably damaging	Het
Lrriq1	G	A	10: 103,214,857	T678I	probably benign	Het
Macf1	T	A	4: 123,492,774	I1017F	probably benign	Het
Madcam1	A	G	10: 79,665,572	E157G	possibly damaging	Het
Mctp1	A	G	13: 76,824,822	D648G	probably damaging	Het
Mycbp2	T	C	14: 103,201,230	M2072V	probably benign	Het
Nck1	A	G	9: 100,497,547		probably null	Het
Ndufaf4	G	T	4: 24,898,608	D55Y	probably damaging	Het
Nek11	A	T	9: 105,300,361	D230E	probably benign	Het
Nit2	T	C	16: 57,161,196	K67E	possibly damaging	Het
Olfr2	T	C	7: 107,001,248	D204G	probably damaging	Het
Olfr290	T	C	7: 84,916,493	F238S	probably damaging	Het
Olfr527	C	T	7: 140,336,429	T189M	probably damaging	Het
Olfr802	A	T	10: 129,682,532	V69E	possibly damaging	Het
Pccb	G	C	9: 100,985,831	D347E	probably damaging	Het
Plcl1	T	A	1: 55,697,838	F779L	probably damaging	Het
Prune2	C	A	19: 17,122,422	D1763E	probably benign	Het
Pwwp2a	A	G	11: 43,705,318	S437G	probably benign	Het
Rabgap1l	A	T	1: 160,738,957	D90E	probably benign	Het
Rapgef4	T	A	2: 72,226,553	I552N	possibly damaging	Het
Scn7a	A	T	2: 66,697,986	I720K	probably damaging	Het
Scn9a	T	A	2: 66,526,654	N1101I	probably damaging	Het
Siglec1	A	T	2: 131,080,497	Y553N	probably damaging	Het
Slc22a23	A	G	13: 34,203,970	L381P	possibly damaging	Het
Slc7a11	T	A	3: 50,384,109	T284S	probably damaging	Het
Slc8a2	T	A	7: 16,140,492		probably null	Het
Snx29	T	A	16: 11,400,971	S224T	probably damaging	Het
Stox1	T	C	10: 62,664,535	T749A	probably benign	Het
Tg	A	G	15: 66,694,894	I1264V	probably benign	Het
Tmem110	T	C	14: 30,866,624	Y103H	probably damaging	Het
Top2a	A	C	11: 99,009,807	V609G	probably damaging	Het
Trmt44	G	A	5: 35,574,832	P72S	probably benign	Het
Ttll3	G	C	6: 113,412,934	S760T	probably benign	Het
Ttn	T	C	2: 76,748,678	D23957G	probably damaging	Het
Ttn	G	A	2: 76,833,897		probably benign	Het
Ubxn1	T	G	19: 8,872,070	V59G	probably benign	Het
Ubxn4	T	C	1: 128,244,510	S14P	probably benign	Het
Uso1	T	A	5: 92,195,370	M771K	probably benign	Het
Utp20	A	G	10: 88,814,055	F431S	probably damaging	Het
Vmn1r206	T	C	13: 22,620,612	S142G	probably benign	Het
Vmn2r19	A	G	6: 123,308,330		probably null	Het
Vps36	G	T	8: 22,218,289		probably null	Het
Wnt3	A	G	11: 103,812,648	H319R	possibly damaging	Het
Zbtb26	G	T	2: 37,436,551	Q158K	probably benign	Het
Zfp648	T	C	1: 154,204,607	S171P	probably benign	Het

Other mutations in Mamdc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Mamdc4	APN	2	25563576	missense	possibly damaging	0.53
IGL01994:Mamdc4	APN	2	25568534	missense	possibly damaging	0.64
IGL02072:Mamdc4	APN	2	25568339	missense	probably damaging	1.00
IGL02193:Mamdc4	APN	2	25564446	missense	probably benign	0.02
IGL02673:Mamdc4	APN	2	25570054	missense	probably benign
IGL03048:Mamdc4	UTSW	2	25569072	missense	possibly damaging	0.67
R0135:Mamdc4	UTSW	2	25566920	missense	possibly damaging	0.71
R0481:Mamdc4	UTSW	2	25571216	start codon destroyed	probably null	0.08
R0490:Mamdc4	UTSW	2	25563581	missense	probably benign	0.01
R0609:Mamdc4	UTSW	2	25564193	missense	probably benign	0.30
R0729:Mamdc4	UTSW	2	25570036	missense	probably damaging	0.98
R1365:Mamdc4	UTSW	2	25566024	missense	probably damaging	1.00
R1533:Mamdc4	UTSW	2	25569747	missense	possibly damaging	0.71
R1671:Mamdc4	UTSW	2	25568223	nonsense	probably null
R1789:Mamdc4	UTSW	2	25567622	missense	possibly damaging	0.59
R2002:Mamdc4	UTSW	2	25567232	missense	probably damaging	1.00
R2013:Mamdc4	UTSW	2	25563572	missense	probably damaging	0.98
R2014:Mamdc4	UTSW	2	25563572	missense	probably damaging	0.98
R2056:Mamdc4	UTSW	2	25564168	missense	probably benign	0.18
R2109:Mamdc4	UTSW	2	25569390	missense	probably damaging	1.00
R2185:Mamdc4	UTSW	2	25569692	critical splice donor site	probably null
R2473:Mamdc4	UTSW	2	25566332	missense	probably damaging	0.99
R2496:Mamdc4	UTSW	2	25565902	missense	probably damaging	1.00
R3818:Mamdc4	UTSW	2	25565773	missense	probably benign
R4591:Mamdc4	UTSW	2	25564597	missense	possibly damaging	0.87
R4829:Mamdc4	UTSW	2	25565356	missense	possibly damaging	0.85
R4898:Mamdc4	UTSW	2	25570023	missense	probably damaging	0.98
R5209:Mamdc4	UTSW	2	25566923	missense	probably damaging	0.97
R5268:Mamdc4	UTSW	2	25564690	missense	possibly damaging	0.95
R5490:Mamdc4	UTSW	2	25565878	missense	probably damaging	1.00
R6152:Mamdc4	UTSW	2	25567439	missense	probably damaging	1.00
R6234:Mamdc4	UTSW	2	25570080	missense	probably damaging	1.00
R6681:Mamdc4	UTSW	2	25567744	missense	probably damaging	1.00
R6774:Mamdc4	UTSW	2	25566936	missense	probably benign	0.06
R7178:Mamdc4	UTSW	2	25568965	missense	probably benign	0.04
R7225:Mamdc4	UTSW	2	25565546	missense	possibly damaging	0.50
R7451:Mamdc4	UTSW	2	25564461	missense	possibly damaging	0.80
R7520:Mamdc4	UTSW	2	25565348	missense	possibly damaging	0.88
R7627:Mamdc4	UTSW	2	25568213	missense	probably damaging	1.00
R7875:Mamdc4	UTSW	2	25568665	nonsense	probably null
R8041:Mamdc4	UTSW	2	25564695	missense	probably damaging	1.00
R8144:Mamdc4	UTSW	2	25567007	missense	probably damaging	0.99
R8201:Mamdc4	UTSW	2	25566081	missense	probably damaging	1.00
R8213:Mamdc4	UTSW	2	25566356	missense	probably benign	0.17
R8531:Mamdc4	UTSW	2	25567718	missense	possibly damaging	0.56
R8810:Mamdc4	UTSW	2	25568489	missense	probably benign	0.01
R9069:Mamdc4	UTSW	2	25563359	missense	probably damaging	1.00
R9440:Mamdc4	UTSW	2	25565588	missense	probably benign
R9446:Mamdc4	UTSW	2	25563633	missense	probably benign
R9486:Mamdc4	UTSW	2	25565152	missense	probably benign	0.00
R9551:Mamdc4	UTSW	2	25570023	missense	probably damaging	0.98
R9626:Mamdc4	UTSW	2	25568261	missense	probably damaging	1.00
X0022:Mamdc4	UTSW	2	25570192	missense	probably damaging	1.00
X0025:Mamdc4	UTSW	2	25564686	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GGGTGGGAAATAGTTGACACACTC -3'
(R):5'- CTACAGATGTCGCTGAGCTG -3'

Sequencing Primer
(F):5'- GGGAAATAGTTGACACACTCTCATTC -3'
(R):5'- TGGAGACACTGACTCTATGGC -3'

Posted On

2014-09-17