Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02012:Marveld3'

183402

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: 0.056) question?

Stock #

IGL02012

Quality Score

Status

Chromosome

Chromosomal Location

109947914-109962203 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109948132 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 351 (V351M)

Ref Sequence

ENSEMBL: ENSMUSP00000001722 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000001722
AA Change: V351M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: V351M

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,674,861	N1296S	probably damaging	Het
Adprh	A	T	16: 38,445,852	D309E	possibly damaging	Het
AF529169	T	C	9: 89,601,438	I635M	probably benign	Het
Armc1	A	T	3: 19,157,537	C40S	possibly damaging	Het
BC100530	T	G	16: 36,367,440	D21A	possibly damaging	Het
Cops8	T	C	1: 90,612,234	V204A	probably damaging	Het
Dchs1	T	G	7: 105,764,297	T1104P	probably damaging	Het
Ddi2	A	T	4: 141,708,218		probably null	Het
Ehbp1	G	A	11: 22,101,218	P420S	probably damaging	Het
Eif1ad	T	G	19: 5,368,659	V80G	probably damaging	Het
Fat1	T	C	8: 45,027,540	Y3004H	possibly damaging	Het
Fbxo11	C	T	17: 88,012,651	R211Q	probably benign	Het
Foxf2	A	G	13: 31,626,516	N146S	probably damaging	Het
Fsd2	A	T	7: 81,549,914	N334K	probably benign	Het
Gm45234	C	A	6: 124,746,048		probably benign	Het
Itpr3	T	A	17: 27,104,095	F1157I	probably benign	Het
Jph1	C	A	1: 17,097,414	W64L	probably benign	Het
Lmo7	T	C	14: 101,888,716		probably benign	Het
Man2a1	T	C	17: 64,666,899	I390T	probably damaging	Het
Mycn	A	G	12: 12,937,103	L431P	probably damaging	Het
Naip5	T	C	13: 100,223,339	N463S	probably benign	Het
Npnt	A	G	3: 132,908,397	C182R	probably damaging	Het
Obscn	A	G	11: 59,076,507	V3068A	probably benign	Het
Pggt1b	A	T	18: 46,262,955	S88T	probably benign	Het
Prx	A	G	7: 27,517,901	E748G	probably damaging	Het
Scrn3	T	C	2: 73,318,429		probably null	Het
Trmt10b	G	A	4: 45,315,045	R292H	probably benign	Het
Tuft1	A	G	3: 94,622,155		probably benign	Het
Wfdc8	T	C	2: 164,603,150		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
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
Z1088:Marveld3	UTSW	8	109948063	missense	possibly damaging	0.94

Posted On

2014-05-07