Mutagenetix > Incidental Mutations

Incidental Mutation 'R8421:Marveld3'

653206

Institutional Source

Beutler Lab

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: 0.056) question?

Stock #

R8421 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109947914-109962203 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109948647 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 179 (M179T)

Ref Sequence

ENSEMBL: ENSMUSP00000001722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001722] [ENSMUST00000034175] [ENSMUST00000051430] [ENSMUST00000179721]

Predicted Effect

probably benign
Transcript: ENSMUST00000001722
AA Change: M179T

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: M179T

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: ENSMUST00000034175

SMART Domains

Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
Blast:PH	148	247	3e-61	BLAST
LRR	295	314	1.12e2	SMART
Pfam:LRR_7	319	335	3.5e-2	PFAM
LRR	341	363	2.82e0	SMART
LRR	364	387	9.75e0	SMART
LRR	456	479	2.68e1	SMART
LRR	498	517	1.35e1	SMART
LRR	521	540	5.59e1	SMART
LRR	544	563	2.79e1	SMART
LRR	569	589	1.62e1	SMART
LRR	590	609	1.67e1	SMART
LRR	616	641	1.33e2	SMART
LRR	640	659	1.4e1	SMART
LRR_TYP	664	687	6.78e-3	SMART
LRR	709	733	2.15e2	SMART
PP2Cc	772	1028	2.98e-30	SMART
low complexity region	1061	1095	N/A	INTRINSIC
Blast:PP2Cc	1109	1175	8e-15	BLAST
low complexity region	1297	1315	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000051430

SMART Domains

Protein: ENSMUSP00000052309
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
Pfam:MARVEL	168	355	3.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179721

SMART Domains

Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
low complexity region	75	92	N/A	INTRINSIC
Blast:PH	183	282	4e-61	BLAST
LRR	330	349	1.12e2	SMART
LRR	376	398	2.82e0	SMART
LRR	399	422	9.75e0	SMART
LRR	491	514	2.68e1	SMART
LRR	533	552	1.35e1	SMART
LRR	556	575	5.59e1	SMART
LRR	579	598	2.79e1	SMART
LRR	604	624	1.62e1	SMART
LRR	625	644	1.67e1	SMART
LRR	651	676	1.33e2	SMART
LRR	675	694	1.4e1	SMART
LRR_TYP	699	722	6.78e-3	SMART
LRR	744	768	2.15e2	SMART
PP2Cc	807	1063	2.98e-30	SMART
low complexity region	1096	1130	N/A	INTRINSIC
Blast:PP2Cc	1144	1210	8e-15	BLAST
low complexity region	1332	1350	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	A	2: 111,218,610	K275*	probably null	Het
Acin1	T	C	14: 54,643,029	E1239G	unknown	Het
Actn3	T	C	19: 4,861,713	M806V	probably benign	Het
Adcy7	A	G	8: 88,322,184	T676A	probably benign	Het
Ankef1	C	A	2: 136,537,165	Q12K	probably damaging	Het
Ankrd40	G	T	11: 94,334,836	G231V	probably damaging	Het
Atad5	T	A	11: 80,094,558	V157D	probably damaging	Het
Atp6v1b1	T	A	6: 83,753,809	M163K	probably damaging	Het
Atp7b	A	T	8: 22,028,471	M117K	probably benign	Het
Ccdc87	T	C	19: 4,841,285	Y602H	possibly damaging	Het
Cdh16	C	T	8: 104,621,970	R142K	probably benign	Het
Chrnb3	G	A	8: 27,396,690	V431I	probably damaging	Het
Csf1r	A	G	18: 61,127,894	D719G	probably damaging	Het
Ctsll3	A	G	13: 60,800,781	F88S	probably damaging	Het
Dglucy	A	G	12: 100,842,679	Y212C	probably damaging	Het
Dnase1l3	T	C	14: 7,968,122	D261G	possibly damaging	Het
Dync2h1	T	C	9: 7,102,477	D2641G	probably damaging	Het
E330021D16Rik	T	C	6: 136,401,352	E160G	probably damaging	Het
Fat3	A	T	9: 15,998,184	V2174D	probably damaging	Het
Gtf3c1	A	G	7: 125,698,970	L244P	probably damaging	Het
Hcn4	T	A	9: 58,858,096	D620E	unknown	Het
Ide	A	G	19: 37,278,004	V800A		Het
Ikbkb	A	T	8: 22,678,788		probably null	Het
Lin9	T	A	1: 180,665,800	F197Y	probably damaging	Het
Lrp1b	T	A	2: 40,725,423	Y3656F		Het
Mapkbp1	C	A	2: 120,018,950	N708K	probably damaging	Het
Mrpl1	C	G	5: 96,226,367	A167G	probably benign	Het
Mrpl35	T	C	6: 71,816,167	K167E	probably damaging	Het
Myo3a	T	C	2: 22,362,124	V594A	probably benign	Het
Nav2	A	G	7: 49,452,521	T356A	probably benign	Het
Nup210l	A	G	3: 90,203,867	Y1692C	probably damaging	Het
Olfr1054	T	A	2: 86,332,903	Y151F	possibly damaging	Het
Otoa	G	A	7: 121,099,268		probably null	Het
Oxnad1	T	G	14: 32,099,474	I172S	probably benign	Het
Padi4	C	A	4: 140,748,222	C544F	probably damaging	Het
Pard3	A	C	8: 127,140,408		probably benign	Het
Plvap	G	A	8: 71,511,532	T62M	probably damaging	Het
Prdm8	C	T	5: 98,185,963	A463V	probably damaging	Het
Prss21	T	A	17: 23,869,368	D102E	possibly damaging	Het
Psmb10	G	T	8: 105,936,710	Q182K	probably benign	Het
Rasgrf1	C	T	9: 89,967,915	P319S	probably damaging	Het
Rock1	G	A	18: 10,072,863	Q1161*	probably null	Het
Ryr3	T	C	2: 112,996,584	E112G	probably benign	Het
Samm50	A	G	15: 84,210,585	T393A	probably benign	Het
Slc9c1	A	G	16: 45,593,371	E954G	probably damaging	Het
Sulf2	T	A	2: 166,117,052	I79F	probably benign	Het
Tbx21	T	C	11: 97,114,735	K135E	probably benign	Het
Unc13b	A	G	4: 43,178,304	E3044G	unknown	Het
Usf3	A	T	16: 44,217,209	Q684L	possibly damaging	Het
Vmn1r114	A	T	7: 20,811,534	M218K	possibly damaging	Het
Vmn1r203	T	G	13: 22,524,984	*312G	probably null	Het
Vmn2r67	A	C	7: 85,136,685	L704R	probably damaging	Het
Zfp618	A	G	4: 63,133,246	T755A	probably damaging	Het
Zp3	A	G	5: 135,988,477	T381A	probably benign	Het
Zscan20	T	C	4: 128,585,827	D957G	probably damaging	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
R8460:Marveld3	UTSW	8	109954408	missense	probably benign	0.16
R8478:Marveld3	UTSW	8	109961968	missense	probably damaging	1.00
Z1088:Marveld3	UTSW	8	109948063	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ATCGTGTACTGCTGGTCCAG -3'
(R):5'- GTTGTTCAGCCCATCCGTAG -3'

Sequencing Primer
(F):5'- AGCTGCCGAACCTGCTC -3'
(R):5'- AGAGCACTGACTGTTCTTCCAGAG -3'

Posted On

2020-10-20