Mutagenetix > Incidental Mutation

Incidental Mutation 'R6003:Marveld3'

478465

Institutional Source

Beutler Lab

Gene Symbol

Marveld3

Ensembl Gene

ENSMUSG00000001672

Gene Name

MARVEL (membrane-associating) domain containing 3

Synonyms

Mrvldc3, MARVD3, 1810006A16Rik

MMRRC Submission

043252-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110674546-110688835 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110680960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 312 (C312S)

Ref Sequence

ENSEMBL: ENSMUSP00000052309 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000001722

SMART Domains

Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672

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

probably damaging
Transcript: ENSMUST00000051430
AA Change: C312S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052309
Gene: ENSMUSG00000001672
AA Change: C312S

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

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,112,312 (GRCm39)	E157G	probably benign	Het
Abcb11	T	C	2: 69,073,811 (GRCm39)	K1238R	probably benign	Het
Ankar	T	A	1: 72,738,046 (GRCm39)	E45D	probably damaging	Het
Antxrl	G	T	14: 33,797,592 (GRCm39)	K522N	possibly damaging	Het
Ap1m1	A	G	8: 73,003,011 (GRCm39)	Y93C	probably damaging	Het
As3mt	C	T	19: 46,696,567 (GRCm39)	T35M	possibly damaging	Het
Aspg	T	C	12: 112,079,476 (GRCm39)	S85P	probably damaging	Het
Cachd1	T	C	4: 100,809,216 (GRCm39)	S234P	possibly damaging	Het
Ccdc3	T	C	2: 5,146,218 (GRCm39)		probably null	Het
Cnpy1	T	C	5: 28,450,759 (GRCm39)	T16A	probably benign	Het
Cope	T	C	8: 70,757,285 (GRCm39)	L43P	probably benign	Het
E2f8	T	C	7: 48,520,525 (GRCm39)	M599V	probably benign	Het
Eif3a	A	T	19: 60,755,319 (GRCm39)	D954E	unknown	Het
Gfpt1	T	A	6: 87,065,230 (GRCm39)		probably null	Het
Ggps1	T	G	13: 14,228,587 (GRCm39)	S145R	probably benign	Het
Gon4l	A	G	3: 88,803,400 (GRCm39)	D1337G	probably damaging	Het
Gtf2a1l	G	T	17: 89,001,531 (GRCm39)	G82V	probably damaging	Het
Gucy1b1	C	A	3: 81,965,584 (GRCm39)	L87F	probably damaging	Het
Hoxc9	T	C	15: 102,890,311 (GRCm39)	V76A	probably benign	Het
Ints2	T	C	11: 86,129,294 (GRCm39)	E460G	probably damaging	Het
Kdm4b	C	T	17: 56,703,916 (GRCm39)	R756W	probably damaging	Het
Lax1	T	A	1: 133,611,834 (GRCm39)	I34F	probably benign	Het
Ncoa2	T	C	1: 13,237,254 (GRCm39)	D824G	possibly damaging	Het
Nrxn2	C	A	19: 6,548,358 (GRCm39)	A17D	possibly damaging	Het
Nup133	A	T	8: 124,665,031 (GRCm39)	I220N	probably damaging	Het
Nup205	T	C	6: 35,189,751 (GRCm39)	V984A	probably benign	Het
Nup54	A	T	5: 92,570,853 (GRCm39)	D318E	probably damaging	Het
Obp2a	A	T	2: 25,591,151 (GRCm39)	K94N	probably damaging	Het
Or2ak5	A	T	11: 58,611,196 (GRCm39)	I226N	probably benign	Het
Or5b3	T	C	19: 13,388,403 (GRCm39)	S157P	probably benign	Het
Pappa2	T	C	1: 158,763,820 (GRCm39)	I564V	probably benign	Het
Parpbp	A	G	10: 87,969,020 (GRCm39)	V142A	possibly damaging	Het
Rdh16f2	A	T	10: 127,712,201 (GRCm39)	R219S	probably benign	Het
Rfx6	C	T	10: 51,584,683 (GRCm39)	R228C	probably damaging	Het
Rpap2	A	G	5: 107,749,767 (GRCm39)		probably null	Het
Rskr	T	G	11: 78,183,846 (GRCm39)		probably null	Het
Slc15a2	T	C	16: 36,574,910 (GRCm39)	I531V	probably benign	Het
Srebf1	T	C	11: 60,097,930 (GRCm39)	E58G	possibly damaging	Het
Tmem214	C	A	5: 31,028,068 (GRCm39)	T96K	possibly damaging	Het
Usp19	T	C	9: 108,373,579 (GRCm39)	Y691H	probably damaging	Het
Vmn1r86	C	T	7: 12,836,125 (GRCm39)	W200*	probably null	Het
Vmn2r8	A	T	5: 108,945,248 (GRCm39)	S786R	probably damaging	Het
Vps52	T	A	17: 34,175,068 (GRCm39)	M1K	probably null	Het
Zzef1	T	A	11: 72,714,891 (GRCm39)		probably null	Het

Other mutations in Marveld3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Marveld3	APN	8	110,688,596 (GRCm39)	missense	possibly damaging	0.81
IGL01341:Marveld3	APN	8	110,675,049 (GRCm39)	missense	possibly damaging	0.94
IGL01415:Marveld3	APN	8	110,688,705 (GRCm39)	missense	possibly damaging	0.92
IGL01759:Marveld3	APN	8	110,674,719 (GRCm39)	missense	possibly damaging	0.90
IGL02012:Marveld3	APN	8	110,674,764 (GRCm39)	missense	probably damaging	0.99
R0732:Marveld3	UTSW	8	110,675,115 (GRCm39)	missense	probably damaging	0.99
R1500:Marveld3	UTSW	8	110,675,174 (GRCm39)	splice site	probably null
R1955:Marveld3	UTSW	8	110,686,380 (GRCm39)	missense	probably benign	0.08
R2146:Marveld3	UTSW	8	110,686,434 (GRCm39)	missense	probably benign	0.00
R2172:Marveld3	UTSW	8	110,688,478 (GRCm39)	missense	probably benign	0.22
R4843:Marveld3	UTSW	8	110,688,702 (GRCm39)	missense	possibly damaging	0.66
R4925:Marveld3	UTSW	8	110,674,943 (GRCm39)	missense	probably benign	0.00
R5542:Marveld3	UTSW	8	110,675,249 (GRCm39)	missense	probably benign	0.03
R6733:Marveld3	UTSW	8	110,688,681 (GRCm39)	missense	possibly damaging	0.90
R6786:Marveld3	UTSW	8	110,674,732 (GRCm39)	missense	probably benign	0.13
R7156:Marveld3	UTSW	8	110,674,820 (GRCm39)	missense	probably damaging	1.00
R7194:Marveld3	UTSW	8	110,686,477 (GRCm39)	splice site	probably null
R7429:Marveld3	UTSW	8	110,675,100 (GRCm39)	missense	possibly damaging	0.77
R7430:Marveld3	UTSW	8	110,675,100 (GRCm39)	missense	possibly damaging	0.77
R7810:Marveld3	UTSW	8	110,681,266 (GRCm39)	missense	probably damaging	0.99
R8421:Marveld3	UTSW	8	110,675,279 (GRCm39)	missense	probably benign	0.07
R8460:Marveld3	UTSW	8	110,681,040 (GRCm39)	missense	probably benign	0.16
R8478:Marveld3	UTSW	8	110,688,600 (GRCm39)	missense	probably damaging	1.00
R8739:Marveld3	UTSW	8	110,688,609 (GRCm39)	missense	possibly damaging	0.82
R8966:Marveld3	UTSW	8	110,675,019 (GRCm39)	missense	possibly damaging	0.90
R9334:Marveld3	UTSW	8	110,675,036 (GRCm39)	missense	probably damaging	0.99
R9465:Marveld3	UTSW	8	110,688,525 (GRCm39)	missense	possibly damaging	0.66
R9763:Marveld3	UTSW	8	110,688,375 (GRCm39)	missense	probably benign	0.38
Z1088:Marveld3	UTSW	8	110,674,695 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CAAGCATTTCTGTGGGCTTC -3'
(R):5'- CGTTCAGTTTTACCAGCTCAAGC -3'

Sequencing Primer
(F):5'- GTGGGCTTCTCCTTCAGC -3'
(R):5'- TCAAGCTGCCTACGGTCACTG -3'

Posted On

2017-06-26