Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01415:Marveld3'

80211

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

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL01415

Quality Score

Status

Chromosome

Chromosomal Location

109947914-109962203 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 109962073 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 12 (T12I)

Ref Sequence

ENSEMBL: ENSMUSP00000001722 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001722
AA Change: T12I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: T12I

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: T12I

SMART Domains

Protein: ENSMUSP00000052309
Gene: ENSMUSG00000001672
AA Change: T12I

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,200,928	Q42R	probably damaging	Het
Ankrd44	T	C	1: 54,752,928	H316R	probably damaging	Het
Arfgef2	G	A	2: 166,867,355	M1117I	probably damaging	Het
Cdc42bpg	A	G	19: 6,310,851	D213G	probably damaging	Het
Cfap69	G	A	5: 5,646,979	P106S	probably damaging	Het
Chkb	A	T	15: 89,428,784	L30H	probably damaging	Het
Cit	A	G	5: 115,941,903	K758E	possibly damaging	Het
Clstn3	G	A	6: 124,438,822	Q634*	probably null	Het
Esrra	C	A	19: 6,912,732	W98C	probably damaging	Het
Ganab	A	G	19: 8,914,694		probably benign	Het
Gcnt3	G	T	9: 70,034,457	H276Q	probably benign	Het
Gm16506	A	G	14: 43,724,173	Y206H	probably benign	Het
Gm1966	C	T	7: 106,603,051		noncoding transcript	Het
Hkdc1	T	A	10: 62,393,859	N680Y	probably damaging	Het
Ighe	A	C	12: 113,271,391	L383R	unknown	Het
Lgals9	T	G	11: 78,973,151	D56A	probably damaging	Het
Nab2	A	T	10: 127,665,103	L40Q	probably damaging	Het
Naip6	T	C	13: 100,303,290	E323G	probably benign	Het
Nubpl	T	A	12: 52,271,070	V182E	possibly damaging	Het
Olfr1206	T	A	2: 88,865,520	M305K	probably benign	Het
Olfr1414	A	G	1: 92,511,252	Y259H	probably damaging	Het
Olfr697	A	G	7: 106,741,499	V145A	probably benign	Het
Peg3	A	G	7: 6,711,653	I190T	probably damaging	Het
Plcl1	G	A	1: 55,696,396	V299M	possibly damaging	Het
Ppp4r1	G	A	17: 65,813,527	E219K	probably damaging	Het
Sh3d19	G	A	3: 86,098,185	A280T	probably benign	Het
Srebf2	A	G	15: 82,177,462	I370V	probably benign	Het
Tfb2m	A	G	1: 179,532,130		probably benign	Het
Ttll7	T	G	3: 146,909,599	S273A	possibly damaging	Het
Unc79	A	G	12: 103,108,685	N1401D	probably damaging	Het
Vmn2r115	T	A	17: 23,359,781	S743T	probably damaging	Het
Zfand4	G	A	6: 116,314,869	R588Q	probably benign	Het

Other mutations in Marveld3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Marveld3	APN	8	109961964	missense	possibly damaging	0.81
IGL01341:Marveld3	APN	8	109948417	missense	possibly damaging	0.94
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	unclassified	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
Z1088:Marveld3	UTSW	8	109948063	missense	possibly damaging	0.94

Posted On

2013-11-05