Mutagenetix > Incidental Mutations

Incidental Mutation 'R6681:Mamdc4'

527481

Institutional Source

Beutler Lab

Gene Symbol

Mamdc4

Ensembl Gene

ENSMUSG00000026941

Gene Name

MAM domain containing 4

Synonyms

LOC381352

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6681 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25563115-25574845 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25567744 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 439 (G439V)

Ref Sequence

ENSEMBL: ENSMUSP00000109861 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095117
AA Change: G443V

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: G443V

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

probably damaging
Transcript: ENSMUST00000114223
AA Change: G439V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: G439V

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: ENSMUST00000152124

Predicted Effect

unknown
Transcript: ENSMUST00000152237
AA Change: G419V

SMART Domains

Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941
AA Change: G419V

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: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 122,121,798	T971S	probably damaging	Het
Catsperb	C	T	12: 101,624,735	Q1021*	probably null	Het
Ccdc62	A	G	5: 123,934,093	T62A	probably benign	Het
Cuzd1	A	G	7: 131,311,683	S402P	probably damaging	Het
Dcun1d1	C	T	3: 35,895,670	V244M	probably damaging	Het
Dennd2c	A	G	3: 103,131,661	T42A	probably benign	Het
Dnah7a	T	C	1: 53,521,226		probably null	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dpp4	A	T	2: 62,348,549	F607L	probably benign	Het
Ech1	C	T	7: 28,830,338		probably null	Het
Fam53a	A	G	5: 33,607,840	L174P	probably damaging	Het
Fh1	T	C	1: 175,619,124	D62G	probably null	Het
Gm15448	T	A	7: 3,822,252	M464L	probably benign	Het
Gpatch11	T	C	17: 78,840,099	I103T	probably damaging	Het
Hmgcll1	A	T	9: 76,081,449	T169S	probably benign	Het
Kbtbd3	A	T	9: 4,330,687	I354F	probably benign	Het
Kdm5b	T	C	1: 134,613,269	F700L	possibly damaging	Het
Mrps30	A	T	13: 118,380,598	S362T	probably damaging	Het
Mug1	C	T	6: 121,838,724	S29L	possibly damaging	Het
Myh2	G	A	11: 67,178,348	D328N	probably damaging	Het
Olfr1106	T	C	2: 87,048,598	T213A	probably benign	Het
Olfr1404	C	A	1: 173,216,406	H252N	probably damaging	Het
Olfr1450	A	G	19: 12,954,459	Y290C	probably damaging	Het
Olfr969	T	A	9: 39,795,414	I13N	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pus7l	G	A	15: 94,527,865	P552S	probably benign	Het
Rest	A	G	5: 77,280,997	K421R	probably damaging	Het
Rttn	C	A	18: 89,014,611	H668N	probably damaging	Het
Scn9a	T	C	2: 66,563,342	I228V	possibly damaging	Het
Scp2	G	T	4: 108,091,316	Q155K	probably damaging	Het
Sec61a2	G	A	2: 5,876,408	R18*	probably null	Het
Serpinb8	T	A	1: 107,597,591	M41K	probably damaging	Het
Sgsm2	A	T	11: 74,865,378	W382R	probably damaging	Het
Slc26a10	G	T	10: 127,173,661	T606N	possibly damaging	Het
Slc30a6	T	C	17: 74,404,032	I40T	possibly damaging	Het
Slfn5	G	A	11: 82,956,378	E30K	possibly damaging	Het
Sorcs2	C	A	5: 36,397,810	R79L	probably benign	Het
Tmc5	G	A	7: 118,669,304	S865N	probably damaging	Het
Tmprss11c	T	A	5: 86,289,260	M1L	possibly damaging	Het
Trpv5	C	G	6: 41,653,354	E601Q	probably damaging	Het
Ttc39b	A	T	4: 83,240,048		probably benign	Het
Ttll6	T	A	11: 96,138,863	C201S	probably damaging	Het
Vezt	A	G	10: 93,996,997	V204A	probably benign	Het
Vmn1r45	T	A	6: 89,934,003		probably benign	Het
Zfp433	A	T	10: 81,720,888	H408L	probably damaging	Het
Zfp865	T	C	7: 5,029,451	I145T	possibly damaging	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
R2128:Mamdc4	UTSW	2	25569258	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
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
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'- TAAACGTGTGGAGCCATGC -3'
(R):5'- TCAGATCCTTCTAGCTGGGG -3'

Sequencing Primer
(F):5'- ATGCAGGCTCTGACTGGC -3'
(R):5'- AGATCCTTCTAGCTGGGGAGACG -3'

Posted On

2018-07-23