Mutagenetix > Incidental Mutations

Incidental Mutation 'R6786:Marveld3'

532379

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

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6786 (G1)

Quality Score

162.009

Status

Validated

Chromosome

Chromosomal Location

109947914-109962203 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 109948100 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 361 (K361N)

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: K361N

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: K361N

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

96% (66/69)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	C	A	4: 56,744,116	Y214*	probably null	Het
Adnp2	A	G	18: 80,129,745	V483A	probably benign	Het
Aif1	C	T	17: 35,171,496	V93M	probably damaging	Het
Alpk2	A	G	18: 65,306,634	S563P	probably benign	Het
Ank2	A	T	3: 126,958,932	N378K	probably damaging	Het
Ano4	C	T	10: 88,992,870		probably null	Het
Asxl3	G	A	18: 22,525,440	C2169Y	probably damaging	Het
Atp2b1	T	C	10: 99,016,959	C101R	probably damaging	Het
BC052040	A	G	2: 115,631,981	I65V	probably benign	Het
Bcs1l	C	T	1: 74,590,685	R224C	probably damaging	Het
Car2	T	C	3: 14,886,650		probably benign	Het
Cbln1	T	C	8: 87,472,029	N71S	probably benign	Het
Cdh8	T	A	8: 99,223,947	T224S	probably benign	Het
Cep131	G	A	11: 120,065,392	R1014W	probably damaging	Het
Cfap61	T	C	2: 146,045,443	S603P	possibly damaging	Het
Chd8	G	T	14: 52,226,668	L659I	probably benign	Het
Ckap5	G	A	2: 91,557,575	G255D	probably benign	Het
Clec18a	C	A	8: 111,080,940	W126L	probably benign	Het
Cux1	T	A	5: 136,567,231	N4Y	probably damaging	Het
Dgcr8	A	T	16: 18,283,829	Y196*	probably null	Het
Dnah14	A	T	1: 181,641,405	I1267F	probably benign	Het
Dock7	T	C	4: 99,061,292	N438D	probably benign	Het
Dock8	A	T	19: 25,183,022	H1763L	possibly damaging	Het
Fpr-rs6	A	T	17: 20,182,838	M87K	possibly damaging	Het
Gabrg1	A	G	5: 70,754,267	S339P	probably benign	Het
Gm10801	AAGT	AAGTAGT	2: 98,663,803		probably null	Het
Gm11487	A	T	4: 73,403,606	M64K	possibly damaging	Het
Gm12695	A	G	4: 96,762,821	S132P	probably damaging	Het
Gm3443	T	A	19: 21,555,764	C31S	probably damaging	Het
Gm9573	T	C	17: 35,623,165		probably benign	Het
Gzmf	A	T	14: 56,206,995	F40L	probably benign	Het
Herc1	TCCC	TCC	9: 66,501,188		probably null	Het
Ikbkap	T	C	4: 56,771,555	D914G	possibly damaging	Het
Lrguk	A	G	6: 34,095,587	E604G	probably benign	Het
Mgat4b	A	T	11: 50,230,698	Y47F	probably damaging	Het
Mmel1	G	T	4: 154,892,428	E520*	probably null	Het
Myod1	A	G	7: 46,378,317	T294A	probably benign	Het
Nfix	A	T	8: 84,727,647	S219T	probably damaging	Het
Nr4a2	A	G	2: 57,111,908	F115L	probably benign	Het
Numa1	A	C	7: 101,992,638	M98L	probably benign	Het
Olfr1458	T	C	19: 13,103,203	I28V	probably benign	Het
P3h1	C	T	4: 119,237,954	L303F	possibly damaging	Het
Pias4	G	A	10: 81,157,246	T5I	probably damaging	Het
Pik3ip1	A	G	11: 3,332,124	N68S	probably benign	Het
Pkdrej	T	C	15: 85,818,649	T1029A	probably benign	Het
Recql	A	T	6: 142,364,552	D517E	probably benign	Het
Sall2	G	T	14: 52,314,621	H372Q	probably damaging	Het
Scn8a	A	C	15: 101,032,215	I1436L	probably benign	Het
Slc4a5	T	C	6: 83,296,747		probably null	Het
Stox2	A	C	8: 47,186,465	F898C	probably damaging	Het
Sumo2	A	T	11: 115,523,775		probably null	Het
Sycp2	C	T	2: 178,383,552	E366K	possibly damaging	Het
Tanc1	A	G	2: 59,791,806	K423R	probably benign	Het
Tbx21	T	A	11: 97,115,046	Q31L	possibly damaging	Het
Tcrg-C1	A	T	13: 19,216,476	D125V	unknown	Het
Tfap2a	T	A	13: 40,728,754	N25I	probably damaging	Het
Tfdp1	C	T	8: 13,370,485	R105W	probably damaging	Het
Trav18	G	A	14: 53,831,665	V55I	probably benign	Het
Trim55	A	G	3: 19,672,774	D335G	probably benign	Het
Trim71	T	A	9: 114,512,704	T837S	probably benign	Het
Vmn1r56	T	C	7: 5,195,962	T219A	probably benign	Het
Vmn2r17	A	T	5: 109,427,829	T189S	probably benign	Het
Xaf1	A	G	11: 72,306,635	T146A	probably benign	Het
Zdbf2	T	C	1: 63,304,520	V686A	possibly damaging	Het
Zfp65	T	C	13: 67,708,011	H383R	probably damaging	Het
Zfp932	A	G	5: 110,009,740	T435A	probably damaging	Het
Zfp947	C	T	17: 22,145,769	G308D	probably benign	Het
Zswim3	T	A	2: 164,820,851	V417E	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	unclassified	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
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
Z1088:Marveld3	UTSW	8	109948063	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCAGACTGATTGGTCTCCTTTC -3'
(R):5'- TTACCTGTATGCGGCGTTGC -3'

Sequencing Primer
(F):5'- ACAACTTTACTCTGCTCAGGTG -3'
(R):5'- GTTGCGCATCAATTCCACCG -3'

Posted On

2018-08-29