Mutagenetix > Incidental Mutations

Incidental Mutation 'R1365:Mamdc4'

155991

Institutional Source

Beutler Lab

Gene Symbol

Mamdc4

Ensembl Gene

ENSMUSG00000026941

Gene Name

MAM domain containing 4

Synonyms

LOC381352

MMRRC Submission

039430-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1365 (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 25566024 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 790 (Y790C)

Ref Sequence

ENSEMBL: ENSMUSP00000092735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015236] [ENSMUST00000095117] [ENSMUST00000114223]

Predicted Effect

probably benign
Transcript: ENSMUST00000015236

SMART Domains

Protein: ENSMUSP00000015236
Gene: ENSMUSG00000015092

Domain	Start	End	E-Value	Type
Pfam:MBF1	4	73	4.6e-29	PFAM
HTH_XRE	80	135	1.02e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000095117
AA Change: Y790C

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

SMART Domains

Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: Y790C

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: Y786C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: Y786C

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: ENSMUST00000134689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152124

Predicted Effect

unknown
Transcript: ENSMUST00000152237
AA Change: Y687C

SMART Domains

Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941
AA Change: Y687C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153008

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef28	G	A	13: 98,075,124	T117M	probably damaging	Het
Asb15	T	C	6: 24,567,270	I530T	possibly damaging	Het
Brca1	T	C	11: 101,501,996	N1673S	probably benign	Het
Cd48	A	T	1: 171,699,561	Q185L	probably damaging	Het
Cog2	A	T	8: 124,540,974	K343I	probably damaging	Het
Dars2	G	A	1: 161,044,994	Q546*	probably null	Het
Dst	A	G	1: 34,188,194	K1623E	probably benign	Het
Epn1	G	A	7: 5,093,370	R221Q	probably benign	Het
Gtf2b	T	C	3: 142,771,466	I33T	probably damaging	Het
Hsf4	G	T	8: 105,271,094	R156L	probably damaging	Het
Itch	A	G	2: 155,213,031	N752D	probably benign	Het
Kif28	G	A	1: 179,739,987	Q73*	probably null	Het
Med1	T	C	11: 98,155,995		probably benign	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Nf1	A	G	11: 79,547,885		probably null	Het
Oxct2b	G	A	4: 123,117,369	V361I	probably benign	Het
Pid1	T	C	1: 84,038,141	M168V	probably damaging	Het
Plk1	A	G	7: 122,168,629	D419G	probably damaging	Het
Rasl10b	G	A	11: 83,417,839		probably null	Het
Rps24	A	G	14: 24,491,762	T6A	probably damaging	Het
Sem1	T	C	6: 6,560,501	D26G	possibly damaging	Het
Sin3a	C	T	9: 57,125,203	R1141*	probably null	Het
Slf1	C	T	13: 77,126,371	A68T	probably damaging	Het
Trmo	A	G	4: 46,380,278	S364P	probably damaging	Het
Uchl3	A	G	14: 101,654,092	E10G	probably damaging	Het
Usp14	C	T	18: 10,000,490		probably null	Het
Vmn1r203	T	A	13: 22,524,586	M179K	probably benign	Het
Vps13a	A	G	19: 16,619,446	Y3103H	probably damaging	Het
Zfp804a	T	C	2: 82,257,246	L473P	probably benign	Het
Zfp979	A	T	4: 147,613,224	Y343N	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
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
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
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'- GCTATGTCATCCAGGGCCATTGTG -3'
(R):5'- GTCCCCAAGGAATGTCTCAGCTTC -3'

Sequencing Primer
(F):5'- TCAAACAGCAACTGAGGGTG -3'
(R):5'- TTCGATTTCCCGAGGCAG -3'

Posted On

2014-02-11