Mutagenetix > Incidental Mutation

Incidental Mutation 'R8966:Marveld3'

682744

Institutional Source

Beutler Lab

Gene Symbol

Marveld3

Ensembl Gene

ENSMUSG00000001672

Gene Name

MARVEL (membrane-associating) domain containing 3

Synonyms

Mrvldc3, MARVD3, 1810006A16Rik

MMRRC Submission

068800-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R8966 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110674546-110688835 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110675019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 266 (S266G)

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

possibly damaging
Transcript: ENSMUST00000001722
AA Change: S266G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: S266G

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: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	A	T	1: 16,151,062 (GRCm39)	M40K	possibly damaging	Het
Aak1	A	C	6: 86,964,234 (GRCm39)	N945T	unknown	Het
Abca13	C	G	11: 9,578,588 (GRCm39)	D4863E	probably damaging	Het
Abca8a	C	T	11: 109,962,245 (GRCm39)		probably null	Het
Alppl2	T	A	1: 87,015,210 (GRCm39)	N413I	probably damaging	Het
Asb13	T	A	13: 3,692,093 (GRCm39)	H24Q	probably damaging	Het
Atg9b	A	G	5: 24,596,200 (GRCm39)		probably null	Het
Atp2b4	T	A	1: 133,666,317 (GRCm39)	H245L	probably benign	Het
B3galt2	A	C	1: 143,521,883 (GRCm39)	R6S	probably damaging	Het
B4galnt2	T	C	11: 95,781,811 (GRCm39)	H118R	probably damaging	Het
Ccdc121rt2	T	A	5: 112,598,103 (GRCm39)	W217R	probably damaging	Het
Clca3b	A	G	3: 144,544,872 (GRCm39)	S372P	probably benign	Het
Cnn1	T	C	9: 22,010,716 (GRCm39)		probably null	Het
Cpne6	C	T	14: 55,750,060 (GRCm39)	R64C	probably damaging	Het
Csmd1	T	A	8: 16,250,059 (GRCm39)	H973L	probably damaging	Het
Dennd5b	A	T	6: 148,901,474 (GRCm39)	H1137Q	probably damaging	Het
Dnah3	G	T	7: 119,549,881 (GRCm39)	Y500*	probably null	Het
Dnajc19	A	G	3: 34,132,893 (GRCm39)	V104A	unknown	Het
Eea1	G	A	10: 95,832,901 (GRCm39)	E249K	probably damaging	Het
Eif1ad19	G	T	12: 87,740,273 (GRCm39)	Y95*	probably null	Het
Fancc	T	C	13: 63,495,285 (GRCm39)	Q213R	probably benign	Het
Gabrr1	A	G	4: 33,152,411 (GRCm39)		probably null	Het
Hgd	T	A	16: 37,431,532 (GRCm39)	V113E	probably damaging	Het
Ints7	T	C	1: 191,351,717 (GRCm39)	S809P	probably benign	Het
Lrrcc1	T	C	3: 14,602,359 (GRCm39)	C151R	probably damaging	Het
Mdn1	C	T	4: 32,672,837 (GRCm39)	Q486*	probably null	Het
Mstn	G	T	1: 53,105,641 (GRCm39)	V328L	probably benign	Het
Ndc80	C	A	17: 71,815,573 (GRCm39)	G404V	probably benign	Het
Nelfb	T	C	2: 25,090,751 (GRCm39)	R557G	probably damaging	Het
Nol10	T	G	12: 17,419,507 (GRCm39)	V266G	possibly damaging	Het
Optc	C	A	1: 133,828,872 (GRCm39)	A245S	probably damaging	Het
Or51a43	A	G	7: 103,718,139 (GRCm39)	L33P	probably damaging	Het
Or52ae7	A	T	7: 103,119,524 (GRCm39)	I93F	probably benign	Het
Or5b111	A	T	19: 13,291,196 (GRCm39)	F151Y	probably damaging	Het
Or6c75	A	T	10: 129,336,951 (GRCm39)	Y58F	probably damaging	Het
Or8i2	T	A	2: 86,852,879 (GRCm39)	E3V	possibly damaging	Het
Pcdhb11	A	G	18: 37,556,037 (GRCm39)	T456A	possibly damaging	Het
Pkd1	A	G	17: 24,794,751 (GRCm39)	E2146G	possibly damaging	Het
Pkdrej	A	T	15: 85,702,012 (GRCm39)	I1308N	probably damaging	Het
Plekha3	A	T	2: 76,523,006 (GRCm39)	I225F	probably benign	Het
Ppp1r3c	A	T	19: 36,711,736 (GRCm39)	D11E	probably benign	Het
Pprc1	A	G	19: 46,054,118 (GRCm39)	D1155G	unknown	Het
Prcc	T	C	3: 87,792,232 (GRCm39)	K140E	probably damaging	Het
Pth1r	A	T	9: 110,554,229 (GRCm39)	V334D	possibly damaging	Het
Rab3d	G	A	9: 21,826,060 (GRCm39)	T118M	probably damaging	Het
Ric8a	A	G	7: 140,438,379 (GRCm39)	E206G	probably benign	Het
Rps17	C	A	7: 80,994,660 (GRCm39)	V34L	probably benign	Het
Serpinb13	T	C	1: 106,928,165 (GRCm39)	S262P	probably damaging	Het
Serpinb6b	T	A	13: 33,162,035 (GRCm39)	L278Q	probably damaging	Het
Slc1a3	C	T	15: 8,680,332 (GRCm39)		probably null	Het
Slc27a5	C	A	7: 12,725,090 (GRCm39)	R452S	probably benign	Het
Slc45a2	T	A	15: 11,001,122 (GRCm39)	W74R	probably damaging	Het
Slc4a2	A	G	5: 24,635,092 (GRCm39)	T175A	probably benign	Het
Sos1	C	A	17: 80,705,879 (GRCm39)	G1231C	possibly damaging	Het
Spata32	T	C	11: 103,100,143 (GRCm39)	T121A	probably damaging	Het
Srd5a3	T	A	5: 76,301,437 (GRCm39)	F222Y	probably benign	Het
Stag3	T	C	5: 138,289,666 (GRCm39)	Y279H	probably damaging	Het
Stk31	T	C	6: 49,423,134 (GRCm39)	I795T	possibly damaging	Het
Syne2	T	C	12: 76,146,197 (GRCm39)	I1665T	probably damaging	Het
Tas2r118	A	G	6: 23,970,020 (GRCm39)	Y14H	probably damaging	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Tnik	T	G	3: 28,587,044 (GRCm39)	M105R	unknown	Het
Trrap	A	G	5: 144,740,162 (GRCm39)	T1195A	probably damaging	Het
Usf1	T	A	1: 171,245,101 (GRCm39)		probably null	Het
Usp53	G	A	3: 122,754,981 (GRCm39)	T158I	probably damaging	Het
Uty	T	C	Y: 1,099,748 (GRCm39)	E1149G	possibly damaging	Het
Vmn2r23	G	A	6: 123,719,079 (GRCm39)	V811M	possibly damaging	Het
Zfp663	T	A	2: 165,194,958 (GRCm39)	K420N	probably damaging	Het
Zfp703	T	C	8: 27,468,302 (GRCm39)	S91P	possibly damaging	Het
Zpld2	T	C	4: 133,929,712 (GRCm39)	T198A	probably damaging	Het
Zscan4-ps1	A	C	7: 10,800,250 (GRCm39)	I213S	probably benign	Het

Other mutations in Marveld3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Marveld3	APN	8	110,688,596 (GRCm39)	missense	possibly damaging	0.81
IGL01341:Marveld3	APN	8	110,675,049 (GRCm39)	missense	possibly damaging	0.94
IGL01415:Marveld3	APN	8	110,688,705 (GRCm39)	missense	possibly damaging	0.92
IGL01759:Marveld3	APN	8	110,674,719 (GRCm39)	missense	possibly damaging	0.90
IGL02012:Marveld3	APN	8	110,674,764 (GRCm39)	missense	probably damaging	0.99
R0732:Marveld3	UTSW	8	110,675,115 (GRCm39)	missense	probably damaging	0.99
R1500:Marveld3	UTSW	8	110,675,174 (GRCm39)	splice site	probably null
R1955:Marveld3	UTSW	8	110,686,380 (GRCm39)	missense	probably benign	0.08
R2146:Marveld3	UTSW	8	110,686,434 (GRCm39)	missense	probably benign	0.00
R2172:Marveld3	UTSW	8	110,688,478 (GRCm39)	missense	probably benign	0.22
R4843:Marveld3	UTSW	8	110,688,702 (GRCm39)	missense	possibly damaging	0.66
R4925:Marveld3	UTSW	8	110,674,943 (GRCm39)	missense	probably benign	0.00
R5542:Marveld3	UTSW	8	110,675,249 (GRCm39)	missense	probably benign	0.03
R6003:Marveld3	UTSW	8	110,680,960 (GRCm39)	missense	probably damaging	1.00
R6733:Marveld3	UTSW	8	110,688,681 (GRCm39)	missense	possibly damaging	0.90
R6786:Marveld3	UTSW	8	110,674,732 (GRCm39)	missense	probably benign	0.13
R7156:Marveld3	UTSW	8	110,674,820 (GRCm39)	missense	probably damaging	1.00
R7194:Marveld3	UTSW	8	110,686,477 (GRCm39)	splice site	probably null
R7429:Marveld3	UTSW	8	110,675,100 (GRCm39)	missense	possibly damaging	0.77
R7430:Marveld3	UTSW	8	110,675,100 (GRCm39)	missense	possibly damaging	0.77
R7810:Marveld3	UTSW	8	110,681,266 (GRCm39)	missense	probably damaging	0.99
R8421:Marveld3	UTSW	8	110,675,279 (GRCm39)	missense	probably benign	0.07
R8460:Marveld3	UTSW	8	110,681,040 (GRCm39)	missense	probably benign	0.16
R8478:Marveld3	UTSW	8	110,688,600 (GRCm39)	missense	probably damaging	1.00
R8739:Marveld3	UTSW	8	110,688,609 (GRCm39)	missense	possibly damaging	0.82
R9334:Marveld3	UTSW	8	110,675,036 (GRCm39)	missense	probably damaging	0.99
R9465:Marveld3	UTSW	8	110,688,525 (GRCm39)	missense	possibly damaging	0.66
R9763:Marveld3	UTSW	8	110,688,375 (GRCm39)	missense	probably benign	0.38
Z1088:Marveld3	UTSW	8	110,674,695 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGGCAGTTCATCCAGGTGAG -3'
(R):5'- GTTCTCATATGCATCGTGGC -3'

Sequencing Primer
(F):5'- TTCATCCAGGTGAGGCCCTTG -3'
(R):5'- TTGTCCTGGCCGGATTCAGC -3'

Posted On

2021-10-11