Mutagenetix > Incidental Mutation

Incidental Mutation 'R6733:Marveld3'

530147

Institutional Source

Beutler Lab

Gene Symbol

Marveld3

Ensembl Gene

ENSMUSG00000001672

Gene Name

MARVEL (membrane-associating) domain containing 3

Synonyms

1810006A16Rik, MARVD3, Mrvldc3

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R6733 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109947914-109962203 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109962049 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 20 (D20G)

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: D20G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: D20G

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: D20G

SMART Domains

Protein: ENSMUSP00000052309
Gene: ENSMUSG00000001672
AA Change: D20G

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,930,530	S155P	probably damaging	Het
Afdn	C	T	17: 13,823,353	H358Y	probably benign	Het
Ccdc125	T	A	13: 100,694,487	M394K	probably benign	Het
Cfd	C	A	10: 79,891,802	H103Q	probably damaging	Het
Cnot2	G	A	10: 116,498,153	P371S	possibly damaging	Het
Dedd2	T	C	7: 25,203,907	E209G	probably benign	Het
Dnah3	A	G	7: 119,922,974	S3999P	probably benign	Het
Fer1l5	T	C	1: 36,408,672		probably null	Het
H6pd	A	T	4: 149,985,121		probably null	Het
Il25	T	C	14: 54,933,033	I21T	probably benign	Het
Kmt2c	C	T	5: 25,409,293	S143N	probably damaging	Het
Msl1	A	G	11: 98,800,056	E122G	probably damaging	Het
Obscn	A	T	11: 59,028,595	V6861E	probably damaging	Het
Olfr1447	A	T	19: 12,901,241	C180S	probably damaging	Het
Phc1	A	T	6: 122,336,886	M29K	possibly damaging	Het
Pkd1l3	T	A	8: 109,648,494		probably null	Het
Prl5a1	G	T	13: 28,149,936	V141F	possibly damaging	Het
Psg20	A	T	7: 18,674,622	V391D	probably damaging	Het
Ptprh	T	C	7: 4,603,044		probably null	Het
Rasa3	T	C	8: 13,580,037	E580G	possibly damaging	Het
Ror1	T	C	4: 100,426,055	V439A	probably benign	Het
Rsl1	A	G	13: 67,177,142	T81A	probably benign	Het
Sgpp1	G	C	12: 75,735,469	P32R	probably benign	Het
Slc22a8	T	C	19: 8,609,292	L389P	probably benign	Het
Slc6a11	A	G	6: 114,134,898	Y142C	probably damaging	Het
Syt9	C	T	7: 107,425,296	T132I	probably damaging	Het
Thop1	T	A	10: 81,081,412	I583N	probably damaging	Het
Tom1l1	A	G	11: 90,685,060		probably null	Het
Unk	A	G	11: 116,050,755	D276G	probably damaging	Het
Zfp942	C	A	17: 21,928,752	E299*	probably null	Het
Zkscan6	A	G	11: 65,828,635	T494A	probably damaging	Het
Zscan25	T	A	5: 145,290,913		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCAAGGCTCTTTGTTCGGATG -3'
(R):5'- AGGACTGACATCTATTTCAGCAAG -3'

Sequencing Primer
(F):5'- TTCGGATGCGCGATGGC -3'
(R):5'- CTGACATCTATTTCAGCAAGAATCC -3'

Posted On

2018-08-01