Mutagenetix > Incidental Mutation

Incidental Mutation 'R9763:Marveld3'

735814

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 #

R9763 (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 A at 109961743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 122 (H122L)

Ref Sequence

ENSEMBL: ENSMUSP00000001722 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000001722
AA Change: H122L

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: H122L

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 benign
Transcript: ENSMUST00000051430
AA Change: H122L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000052309
Gene: ENSMUSG00000001672
AA Change: H122L

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: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,263,558	D2167E	possibly damaging	Het
Acadsb	T	A	7: 131,443,598	Y420N	probably benign	Het
Adcy1	T	A	11: 7,064,126	L176Q	probably damaging	Het
Amdhd1	T	A	10: 93,531,536	K252M	possibly damaging	Het
Aspa	C	A	11: 73,322,268	E83*	probably null	Het
Atat1	A	G	17: 35,910,007	L10P	probably damaging	Het
Ccdc141	T	A	2: 77,039,575	N862I	probably damaging	Het
Cdkal1	A	T	13: 29,625,709	C217*	probably null	Het
Cttnbp2	C	T	6: 18,435,241	S206N	probably benign	Het
Dner	A	T	1: 84,383,935	I651N	possibly damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Ercc6l2	T	C	13: 63,834,624	V91A	probably damaging	Het
Fam198a	A	G	9: 121,976,355	D404G	probably damaging	Het
Gm11639	G	A	11: 104,999,659	G4189E	possibly damaging	Het
Gm13941	A	G	2: 111,101,173	L38S	unknown	Het
Golph3l	G	A	3: 95,609,774	E198K	possibly damaging	Het
Hecw2	A	C	1: 53,923,915	D812E	probably damaging	Het
Ikzf2	T	A	1: 69,548,676	E212V	possibly damaging	Het
Il6st	C	T	13: 112,490,517	S281F	probably damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,845,176		probably benign	Het
Krt71	T	G	15: 101,738,322	K317T	probably damaging	Het
Lgi4	T	C	7: 31,060,595	F72S	probably damaging	Het
Map3k1	C	T	13: 111,775,965	R174H	probably damaging	Het
Mrgprb2	A	G	7: 48,552,426	S184P	probably benign	Het
Mylk	G	T	16: 34,879,112	G282*	probably null	Het
Myo16	T	A	8: 10,400,528	M510K	unknown	Het
Naip5	C	G	13: 100,230,761	A276P	probably damaging	Het
Olfr1016	T	G	2: 85,799,716	N185H	possibly damaging	Het
Olfr1045	A	T	2: 86,197,837	M305K	probably benign	Het
Olfr1507	T	G	14: 52,490,850	Y38S	probably damaging	Het
Olfr411	T	C	11: 74,347,215	Y3C	probably damaging	Het
Olfr518	T	A	7: 108,881,667		probably benign	Het
Olfr519	T	G	7: 108,894,003	I140L	probably benign	Het
Pdzrn4	T	C	15: 92,770,495	Y843H	probably damaging	Het
Prkca	A	G	11: 108,013,041	V242A	possibly damaging	Het
Rbbp8	A	T	18: 11,732,204	M717L	probably benign	Het
Rnf150	T	C	8: 83,006,339	S272P	probably benign	Het
Rtraf	A	G	14: 19,816,246	V134A	probably damaging	Het
Rubcnl	T	A	14: 75,049,668	L592*	probably null	Het
Slc23a1	A	G	18: 35,622,311	S484P	probably damaging	Het
Slmap	A	G	14: 26,482,963	Y68H	probably damaging	Het
Speer4b	C	A	5: 27,500,208	V56L	probably damaging	Het
Sycp2l	T	A	13: 41,152,756	S84T		Het
Syne1	T	C	10: 5,057,858	D122G	probably benign	Het
Timd2	G	T	11: 46,682,713	P155T	probably benign	Het
Topbp1	G	A	9: 103,346,724	R1401Q	probably benign	Het
Trim36	C	A	18: 46,176,058	D312Y	probably benign	Het
Vps13c	A	G	9: 67,911,578	T1094A	probably benign	Het
Vwa8	T	A	14: 78,949,548	Y465N	probably damaging	Het
Zfpm1	T	C	8: 122,335,792	L530P	probably damaging	Het
Zmynd10	A	T	9: 107,548,766	T100S	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
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
Z1088:Marveld3	UTSW	8	109948063	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTTAAGAGTCTGTGGCCCTC -3'
(R):5'- TCCTAGAGAAAGAGACCCGGAC -3'

Sequencing Primer
(F):5'- GGCTAGCCCCACCTACCTAG -3'
(R):5'- GAGACCACCACGTCGAGC -3'

Posted On

2022-11-14