Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01067:Marveld3'

51712

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Marveld3

Ensembl Gene

ENSMUSG00000001672

Gene Name

MARVEL (membrane-associating) domain containing 3

Synonyms

1810006A16Rik, MARVD3, Mrvldc3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL01067

Quality Score

Status

Chromosome

Chromosomal Location

109947914-109962203 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 109961964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 48 (D48E)

Ref Sequence

ENSEMBL: ENSMUSP00000001722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001722] [ENSMUST00000051430]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001722
AA Change: D48E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: D48E

Domain	Start	End	E-Value	Type
low complexity region	7	33	N/A	INTRINSIC
low complexity region	43	74	N/A	INTRINSIC
low complexity region	104	116	N/A	INTRINSIC
transmembrane domain	181	203	N/A	INTRINSIC
transmembrane domain	239	261	N/A	INTRINSIC
transmembrane domain	274	296	N/A	INTRINSIC
transmembrane domain	335	357	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000051430
AA Change: D48E

SMART Domains

Protein: ENSMUSP00000052309
Gene: ENSMUSG00000001672
AA Change: D48E

Domain	Start	End	E-Value	Type
low complexity region	7	33	N/A	INTRINSIC
low complexity region	43	74	N/A	INTRINSIC
low complexity region	104	116	N/A	INTRINSIC
Pfam:MARVEL	168	355	3.2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155052

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
A330008L17Rik	T	C	8: 99,421,954		noncoding transcript	Het
Acp4	C	T	7: 44,253,452	V331I	probably benign	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Alg6	T	C	4: 99,741,570	V128A	probably benign	Het
Ank3	A	G	10: 69,850,196	K280E	probably damaging	Het
Bfar	T	C	16: 13,685,241	C36R	probably damaging	Het
Car14	A	G	3: 95,898,816	I311T	probably damaging	Het
Cd300c	T	C	11: 114,960,427		probably benign	Het
Cfap100	T	A	6: 90,406,114	E513V	probably damaging	Het
Clip1	C	A	5: 123,630,804	K612N	probably damaging	Het
Depdc5	A	G	5: 32,899,067		probably null	Het
Dock3	A	T	9: 107,082,373		probably null	Het
Dph6	A	T	2: 114,647,809	M17K	probably damaging	Het
Enkur	T	C	2: 21,189,231	Q177R	probably benign	Het
Faap100	T	C	11: 120,372,132	H800R	probably damaging	Het
Fastkd2	T	G	1: 63,737,771		probably benign	Het
Fcgr2b	A	T	1: 170,968,053	N102K	possibly damaging	Het
Fezf1	C	T	6: 23,247,843	V78I	possibly damaging	Het
Fmn2	A	T	1: 174,503,319	D425V	unknown	Het
Fnta	G	A	8: 26,007,201	Q207*	probably null	Het
Fpr3	T	A	17: 17,970,566	V33D	probably benign	Het
Fshr	C	T	17: 88,985,393	C619Y	possibly damaging	Het
Gbp3	T	C	3: 142,566,597		probably null	Het
Gjb2	A	G	14: 57,100,172	V193A	possibly damaging	Het
Il4ra	A	G	7: 125,575,161	T292A	probably benign	Het
Lama5	A	G	2: 180,176,543		probably benign	Het
Meox1	A	T	11: 101,893,773	I78N	probably benign	Het
Ncor1	A	T	11: 62,392,528	H444Q	probably damaging	Het
Ndst3	T	C	3: 123,546,817	Q784R	probably damaging	Het
Olfr1123	A	G	2: 87,418,370	I107M	probably benign	Het
Olfr1294	T	A	2: 111,538,014	I92F	probably damaging	Het
Pld5	A	T	1: 176,274,879		probably benign	Het
Plk1	G	A	7: 122,168,925	R456H	probably damaging	Het
Polr2a	T	A	11: 69,748,014	I65F	possibly damaging	Het
Ptprd	T	A	4: 76,059,685	I196F	probably damaging	Het
Qsox2	T	C	2: 26,228,396	N121S	probably damaging	Het
Reln	A	G	5: 21,979,666	L1617S	probably damaging	Het
Rragc	T	C	4: 123,929,968	F345L	probably benign	Het
Sass6	A	T	3: 116,613,956	E240D	possibly damaging	Het
Shcbp1l	A	C	1: 153,436,024	S308R	possibly damaging	Het
Slc1a5	T	A	7: 16,786,879	C224*	probably null	Het
Slc27a5	T	C	7: 12,989,072	E567G	probably damaging	Het
Synj2	T	A	17: 6,037,926	N1417K	possibly damaging	Het
Tbc1d9	A	G	8: 83,234,162	T214A	probably damaging	Het
Tjp3	C	A	10: 81,273,865	V835L	probably benign	Het
Trpc4	C	A	3: 54,222,562	Q250K	probably benign	Het
Ttn	A	T	2: 76,745,162	I25129N	probably damaging	Het
Ube4a	T	A	9: 44,944,865	Y523F	probably damaging	Het
Zfp971	G	A	2: 178,023,382		probably null	Het

Other mutations in Marveld3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Marveld3	APN	8	109948417	missense	possibly damaging	0.94
IGL01415:Marveld3	APN	8	109962073	missense	possibly damaging	0.92
IGL01759:Marveld3	APN	8	109948087	missense	possibly damaging	0.90
IGL02012:Marveld3	APN	8	109948132	missense	probably damaging	0.99
R0732:Marveld3	UTSW	8	109948483	missense	probably damaging	0.99
R1500:Marveld3	UTSW	8	109948542	splice site	probably null
R1955:Marveld3	UTSW	8	109959748	missense	probably benign	0.08
R2146:Marveld3	UTSW	8	109959802	missense	probably benign	0.00
R2172:Marveld3	UTSW	8	109961846	missense	probably benign	0.22
R4843:Marveld3	UTSW	8	109962070	missense	possibly damaging	0.66
R4925:Marveld3	UTSW	8	109948311	missense	probably benign	0.00
R5542:Marveld3	UTSW	8	109948617	missense	probably benign	0.03
R6003:Marveld3	UTSW	8	109954328	missense	probably damaging	1.00
R6733:Marveld3	UTSW	8	109962049	missense	possibly damaging	0.90
R6786:Marveld3	UTSW	8	109948100	missense	probably benign	0.13
R7156:Marveld3	UTSW	8	109948188	missense	probably damaging	1.00
R7194:Marveld3	UTSW	8	109959845	splice site	probably null
R7429:Marveld3	UTSW	8	109948468	missense	possibly damaging	0.77
R7430:Marveld3	UTSW	8	109948468	missense	possibly damaging	0.77
R7810:Marveld3	UTSW	8	109954634	missense	probably damaging	0.99
R8421:Marveld3	UTSW	8	109948647	missense	probably benign	0.07
R8460:Marveld3	UTSW	8	109954408	missense	probably benign	0.16
R8478:Marveld3	UTSW	8	109961968	missense	probably damaging	1.00
R8739:Marveld3	UTSW	8	109961977	missense	possibly damaging	0.82
R8966:Marveld3	UTSW	8	109948387	missense	possibly damaging	0.90
R9334:Marveld3	UTSW	8	109948404	missense	probably damaging	0.99
R9465:Marveld3	UTSW	8	109961893	missense	possibly damaging	0.66
R9763:Marveld3	UTSW	8	109961743	missense	probably benign	0.38
Z1088:Marveld3	UTSW	8	109948063	missense	possibly damaging	0.94

Posted On

2013-06-21