Mutagenetix > Incidental Mutations

Incidental Mutation 'R0481:Mamdc4'

43332

Institutional Source

Beutler Lab

Gene Symbol

Mamdc4

Ensembl Gene

ENSMUSG00000026941

Gene Name

MAM domain containing 4

Synonyms

LOC381352

MMRRC Submission

038681-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R0481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25563115-25574845 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 25571216 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000092735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039156] [ENSMUST00000095117] [ENSMUST00000114217] [ENSMUST00000114223] [ENSMUST00000191602]

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 null
Transcript: ENSMUST00000095117
AA Change: M1T

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: M1T

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 benign
Transcript: ENSMUST00000114217

SMART Domains

Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114223
AA Change: M1T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: M1T

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 benign
Transcript: ENSMUST00000152237

SMART Domains

Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941

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: ENSMUST00000181730

Predicted Effect

probably benign
Transcript: ENSMUST00000191602

SMART Domains

Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	N/A	INTRINSIC

Meta Mutation Damage Score

0.9618

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

95% (89/94)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932429P05Rik	T	C	X: 89,752,693	S44P	probably damaging	Het
9530053A07Rik	A	T	7: 28,153,749	D1487V	probably damaging	Het
Abcg4	T	A	9: 44,279,369	N39Y	probably benign	Het
Adamts10	C	T	17: 33,549,373	Q840*	probably null	Het
Aff2	C	T	X: 69,834,642	T678I	probably damaging	Het
Ahctf1	A	G	1: 179,760,271	V1418A	probably benign	Het
Ankrd11	G	A	8: 122,900,036	R136C	probably damaging	Het
Arf5	A	G	6: 28,426,076	Y154C	probably damaging	Het
AW551984	A	G	9: 39,600,616	V33A	probably null	Het
B4galt5	A	G	2: 167,309,234	L118P	probably damaging	Het
Bcl9l	A	G	9: 44,506,682	I606V	probably benign	Het
Bdp1	A	G	13: 100,041,454	I1969T	probably benign	Het
Bicd1	A	T	6: 149,511,891	D260V	possibly damaging	Het
Cap1	A	T	4: 122,863,075	H272Q	possibly damaging	Het
Ccnk	A	G	12: 108,199,309		probably benign	Het
Cd209f	A	T	8: 4,105,558		probably null	Het
Cdk13	C	A	13: 17,719,494	A1123S	probably damaging	Het
Cdx1	C	T	18: 61,020,492	R158H	probably damaging	Het
Chd8	A	G	14: 52,237,206	S123P	probably benign	Het
Cwc22	G	A	2: 77,908,111	A497V	probably damaging	Het
Cwh43	T	C	5: 73,418,027	S296P	probably damaging	Het
Dhx38	A	T	8: 109,556,216		probably benign	Het
Dnah5	T	A	15: 28,383,599	M2989K	probably benign	Het
Dpy19l4	A	C	4: 11,272,993		probably benign	Het
F11r	A	T	1: 171,461,279	H155L	probably benign	Het
Fitm2	A	G	2: 163,469,714	V193A	probably benign	Het
Foxk1	T	A	5: 142,448,823	S281T	probably benign	Het
Furin	A	G	7: 80,393,549	C305R	probably damaging	Het
Fut8	T	A	12: 77,448,560	V308D	probably damaging	Het
Gjb3	T	A	4: 127,326,332	I136F	probably benign	Het
Glmn	A	T	5: 107,560,934	S385T	probably benign	Het
Glp1r	T	A	17: 30,931,217	M371K	probably benign	Het
Gm906	T	A	13: 50,246,964	Q442L	probably benign	Het
Gpr179	T	C	11: 97,349,718	H293R	probably damaging	Het
H2-M11	A	T	17: 36,548,954	R280*	probably null	Het
Hadhb	T	A	5: 30,168,545	H78Q	probably damaging	Het
Hectd4	A	G	5: 121,295,506		probably benign	Het
Hexa	A	G	9: 59,555,410		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Hyal6	G	A	6: 24,743,418	C371Y	probably damaging	Het
Il1rap	T	C	16: 26,692,835	Y210H	probably damaging	Het
Ino80	A	T	2: 119,431,016	H722Q	probably damaging	Het
Kcnt1	A	G	2: 25,892,496	N200S	probably damaging	Het
Kif27	T	A	13: 58,311,264		probably benign	Het
Lyst	T	C	13: 13,677,952	V2179A	probably benign	Het
Macf1	C	A	4: 123,484,022		probably null	Het
Mansc4	A	G	6: 147,075,227	I297T	possibly damaging	Het
Mdn1	G	A	4: 32,767,182		probably benign	Het
Mib2	A	G	4: 155,656,062		probably benign	Het
Mon2	A	G	10: 123,013,396	V1333A	possibly damaging	Het
Ndst2	T	C	14: 20,724,468	D840G	possibly damaging	Het
Nell2	A	T	15: 95,432,682		probably null	Het
Olfr1189	A	T	2: 88,592,655	I284F	probably damaging	Het
Olfr1301	T	A	2: 111,754,585	M112K	probably damaging	Het
Olfr998	C	A	2: 85,591,104	A188E	possibly damaging	Het
Pde5a	C	T	3: 122,818,077		probably benign	Het
Phip	A	G	9: 82,876,716		probably benign	Het
Polr2b	A	G	5: 77,332,082	I561V	possibly damaging	Het
Prkg2	A	T	5: 98,994,655		probably null	Het
Prl8a6	T	C	13: 27,433,101	D201G	probably benign	Het
Ptk6	G	A	2: 181,202,527		probably benign	Het
Ptprn2	T	C	12: 117,211,846		probably benign	Het
Rdh1	G	T	10: 127,763,124	R158L	probably damaging	Het
Rhbdl3	T	C	11: 80,323,349		probably benign	Het
Rims4	A	T	2: 163,864,120	V198E	probably damaging	Het
Ripk1	T	C	13: 34,009,750	S32P	probably damaging	Het
Rnf13	T	A	3: 57,779,451	N88K	probably damaging	Het
Rnf13	C	A	3: 57,807,053	L178I	probably damaging	Het
Slc17a5	G	T	9: 78,538,302		probably null	Het
Sorcs1	A	G	19: 50,636,453		probably benign	Het
Srpk1	G	A	17: 28,590,244		probably benign	Het
Stk10	A	G	11: 32,614,708	K840E	probably damaging	Het
Suco	A	G	1: 161,862,313		probably benign	Het
T2	G	A	17: 8,417,175		probably null	Het
Tbc1d5	A	G	17: 50,919,051	S255P	probably damaging	Het
Tenm1	T	C	X: 42,536,181	Y2254C	probably damaging	Het
Tex9	T	A	9: 72,478,396	K11*	probably null	Het
Tlr4	A	G	4: 66,827,916	I29V	probably benign	Het
Tmem255a	A	T	X: 38,199,646	V278D	probably damaging	Het
Trpc3	T	C	3: 36,624,417	I840V	probably benign	Het
Trpm3	G	A	19: 22,901,071	R622Q	possibly damaging	Het
Vmn1r214	T	A	13: 23,035,294	Y319*	probably null	Het
Vmn1r53	A	T	6: 90,223,718	V208E	probably damaging	Het
Vmn2r89	T	C	14: 51,456,120	F309S	probably damaging	Het
Xirp2	T	A	2: 67,509,909	F831L	possibly damaging	Het
Yes1	G	T	5: 32,640,405	E23*	probably null	Het
Zfp292	A	T	4: 34,810,059	M995K	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
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
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'- AGAGCCAGGGAGATGGTCACTTATG -3'
(R):5'- CCCCAAGAGAATCTTAGAGCCTTGC -3'

Sequencing Primer
(F):5'- CAGGGAGATGGTCACTTATGATATCC -3'
(R):5'- ATGTCCAAGAGCCGACCTTTG -3'

Posted On

2013-05-23