Mutagenetix > Incidental Mutation

Incidental Mutation 'R5542:Marveld3'

436038

Institutional Source

Beutler Lab

Gene Symbol

Marveld3

Ensembl Gene

ENSMUSG00000001672

Gene Name

MARVEL (membrane-associating) domain containing 3

Synonyms

1810006A16Rik, MARVD3, Mrvldc3

MMRRC Submission

043100-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5542 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109947914-109962203 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109948617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 189 (I189K)

Ref Sequence

ENSEMBL: ENSMUSP00000001722 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000001722
AA Change: I189K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: I189K

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: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	A	T	19: 5,503,435	V106D	probably damaging	Het
9530053A07Rik	A	T	7: 28,155,489	I1847F	probably damaging	Het
Aadacl2	C	T	3: 60,025,063	T333I	probably damaging	Het
Acacb	C	T	5: 114,195,737	R574C	probably damaging	Het
Actr10	T	C	12: 70,954,656		probably benign	Het
Ankdd1a	T	A	9: 65,504,190		probably null	Het
Anks4b	C	T	7: 120,182,423	Q226*	probably null	Het
AW146154	C	A	7: 41,481,377	G105V	probably benign	Het
Ccdc129	C	A	6: 55,978,395	P996Q	probably damaging	Het
Cdh4	T	A	2: 179,860,226	N326K	probably damaging	Het
Cnbd1	T	C	4: 18,860,517	T410A	possibly damaging	Het
Cndp2	A	T	18: 84,672,076	M247K	probably damaging	Het
Crx	G	A	7: 15,868,337	R139C	probably damaging	Het
Ctrc	A	G	4: 141,843,726	Y68H	probably damaging	Het
Ddx4	T	C	13: 112,621,245	D326G	probably damaging	Het
Edem1	C	T	6: 108,854,329	R584C	possibly damaging	Het
Emcn	A	G	3: 137,379,877	T79A	probably benign	Het
Ext1	C	A	15: 53,075,817	W612L	probably damaging	Het
Fbrsl1	C	T	5: 110,378,441	G437R	probably damaging	Het
Fbxo7	A	C	10: 86,033,285	Q201P	probably benign	Het
Fbxo9	T	C	9: 78,101,656	M12V	possibly damaging	Het
Flii	A	G	11: 60,718,862	S640P	probably benign	Het
Fsip2	A	T	2: 82,981,863	N2842I	possibly damaging	Het
Fst	G	T	13: 114,455,705	Q159K	probably damaging	Het
Fuom	A	T	7: 140,100,112	*109R	probably null	Het
Gm9573	T	C	17: 35,622,503		probably benign	Het
Gm9992	A	T	17: 7,369,788	C334S	probably benign	Het
Hhipl2	A	G	1: 183,433,146	D377G	probably damaging	Het
Hspa14	A	G	2: 3,502,523	V116A	possibly damaging	Het
Ighm	A	G	12: 113,418,981		probably benign	Het
Ighv1-85	T	A	12: 116,000,227	Y51F	probably benign	Het
Ighv2-3	A	T	12: 113,611,213	D107E	probably benign	Het
Ighv2-6-8	T	A	12: 113,796,567	M1L	probably benign	Het
Ipo5	T	C	14: 120,926,271	V247A	probably benign	Het
Itga9	T	C	9: 118,843,661	F154L	possibly damaging	Het
Knl1	T	A	2: 119,068,348	C177S	possibly damaging	Het
Lrrc17	G	A	5: 21,575,158	G377S	probably damaging	Het
Msantd2	G	A	9: 37,517,259	G185R	probably damaging	Het
Mtcl1	G	A	17: 66,384,359		probably benign	Het
Mycbpap	A	T	11: 94,507,746		probably null	Het
Nbeal1	A	G	1: 60,277,194	D1852G	probably benign	Het
Ndc80	A	T	17: 71,500,281	V560D	probably benign	Het
Olfr1505	T	C	19: 13,919,047	V9A	probably benign	Het
Olfr2	A	T	7: 107,001,079	S260R	probably damaging	Het
Olfr330	A	C	11: 58,529,884	V34G	probably benign	Het
Olfr384	T	A	11: 73,603,204	V208E	possibly damaging	Het
Olfr679	A	T	7: 105,086,358	D214V	probably damaging	Het
Pcdhga4	A	T	18: 37,686,598	Y400F	probably damaging	Het
Pkd2	A	G	5: 104,486,649		silent	Het
Plxna4	T	A	6: 32,206,230	I913F	probably damaging	Het
Psmc1	T	C	12: 100,120,140		probably null	Het
Robo2	G	A	16: 73,898,965	T1430I	probably benign	Het
Safb2	G	A	17: 56,575,647	R329C	probably damaging	Het
Sept14	T	C	5: 129,697,862	H83R	probably damaging	Het
Slc16a10	A	G	10: 40,076,788	F237L	probably benign	Het
Slc37a1	A	T	17: 31,340,262	T439S	probably damaging	Het
Slc6a6	T	C	6: 91,735,189	F233S	probably damaging	Het
Smyd3	A	T	1: 179,410,459	D114E	probably benign	Het
Sned1	T	C	1: 93,271,602	I468T	probably benign	Het
Speer4a	T	A	5: 26,036,738	N130I	probably damaging	Het
Tdrd7	T	C	4: 46,029,757	V1030A	probably benign	Het
Trip12	A	T	1: 84,749,344	D1135E	probably damaging	Het
Tsga10	T	A	1: 37,761,517	D542V	probably damaging	Het
Ubqlnl	G	A	7: 104,149,697	Q198*	probably null	Het
Usp46	A	T	5: 74,029,241	M43K	probably benign	Het
Vmn1r175	A	T	7: 23,809,106	I32N	possibly damaging	Het
Vmn1r29	C	T	6: 58,308,123	T276I	probably benign	Het
Vmn1r81	A	T	7: 12,260,107	D191E	probably damaging	Het
Zbtb5	C	A	4: 44,995,052	V111F	probably damaging	Het
Zfp12	C	T	5: 143,244,485	P189L	possibly damaging	Het
Zfp729b	A	G	13: 67,591,021	F1042L	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
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
R9763:Marveld3	UTSW	8	109961743	missense	probably benign	0.38
Z1088:Marveld3	UTSW	8	109948063	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AAACGCCCATAGTGAGGAC -3'
(R):5'- TGTTCAGCCCATCCGTAGAG -3'

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

Posted On

2016-10-24