Mutagenetix > Incidental Mutation

Incidental Mutation 'R1500:Marveld3'

169185

Institutional Source

Beutler Lab

Gene Symbol

Marveld3

Ensembl Gene

ENSMUSG00000001672

Gene Name

MARVEL (membrane-associating) domain containing 3

Synonyms

Mrvldc3, MARVD3, 1810006A16Rik

MMRRC Submission

039551-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1500 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110674546-110688835 bp(-) (GRCm39)

Type of Mutation

splice site (3872 bp from exon)

DNA Base Change (assembly)

T to G at 110675174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136166 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000001722
AA Change: N214T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: N214T

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 null
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 null
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

Meta Mutation Damage Score

0.1572

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.1%

Validation Efficiency

95% (81/85)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	A	G	17: 31,330,253 (GRCm39)	D518G	probably benign	Het
Acaca	T	A	11: 84,184,810 (GRCm39)	D96E	probably benign	Het
Actbl2	G	A	13: 111,391,854 (GRCm39)	R63Q	probably damaging	Het
Adamts6	T	A	13: 104,449,389 (GRCm39)	H266Q	probably damaging	Het
Aff4	T	C	11: 53,263,205 (GRCm39)	V75A	probably benign	Het
Ank2	A	G	3: 126,726,631 (GRCm39)	S888P	probably benign	Het
Ano7	T	C	1: 93,325,050 (GRCm39)	F534S	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Bcam	T	A	7: 19,492,889 (GRCm39)	D484V	possibly damaging	Het
Bltp2	C	A	11: 78,174,958 (GRCm39)	Q1698K	possibly damaging	Het
Ccdc88a	T	C	11: 29,432,713 (GRCm39)	Y1240H	probably benign	Het
Cfh	T	C	1: 140,028,614 (GRCm39)	Y500C	probably damaging	Het
Chd1l	G	A	3: 97,490,121 (GRCm39)	A478V	probably benign	Het
Dnah1	T	C	14: 31,038,715 (GRCm39)	D122G	probably benign	Het
Dnah11	A	T	12: 117,976,564 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,991,879 (GRCm39)	K1230E	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
E330020D12Rik	A	T	1: 153,284,125 (GRCm39)		noncoding transcript	Het
Ece2	T	C	16: 20,462,992 (GRCm39)	L639P	probably damaging	Het
Epha3	A	T	16: 63,416,025 (GRCm39)	V658E	probably benign	Het
Erbb2	C	T	11: 98,319,804 (GRCm39)	T632I	probably damaging	Het
Erc2	A	G	14: 27,993,617 (GRCm39)	T883A	probably damaging	Het
Extl2	T	C	3: 115,820,789 (GRCm39)	V198A	probably benign	Het
Fktn	G	T	4: 53,735,065 (GRCm39)	M234I	probably benign	Het
Ggt7	A	G	2: 155,340,966 (GRCm39)	S400P	probably benign	Het
Gldc	A	C	19: 30,091,225 (GRCm39)	V790G	possibly damaging	Het
Gm14496	A	C	2: 181,633,026 (GRCm39)	Q3P	probably benign	Het
H2-D1	G	A	17: 35,482,564 (GRCm39)	E95K	probably benign	Het
Ikzf3	T	C	11: 98,409,521 (GRCm39)	E14G	probably benign	Het
Jag1	A	T	2: 136,957,558 (GRCm39)	N51K	possibly damaging	Het
Khdrbs3	A	G	15: 68,800,635 (GRCm39)	D14G	possibly damaging	Het
Krt84	A	G	15: 101,438,659 (GRCm39)	V276A	probably damaging	Het
Lamb1	T	C	12: 31,348,948 (GRCm39)	I660T	possibly damaging	Het
Lcmt2	A	T	2: 120,970,488 (GRCm39)	S198R	probably benign	Het
Lcn6	G	A	2: 25,567,131 (GRCm39)	R44H	probably benign	Het
Lrfn5	A	T	12: 61,886,527 (GRCm39)	H105L	probably damaging	Het
Lrit1	G	A	14: 36,784,091 (GRCm39)	R473K	probably benign	Het
Marchf1	A	G	8: 66,921,042 (GRCm39)	T495A	probably damaging	Het
Mbd3	T	C	10: 80,230,420 (GRCm39)	D160G	possibly damaging	Het
Mrc2	T	G	11: 105,238,551 (GRCm39)	C1233G	probably damaging	Het
Ms4a13	T	G	19: 11,161,225 (GRCm39)	T105P	probably damaging	Het
Mtbp	T	C	15: 55,480,951 (GRCm39)	Y306H	probably damaging	Het
Muc3a	T	C	5: 137,244,958 (GRCm39)		probably benign	Het
Myo1g	T	A	11: 6,470,811 (GRCm39)	Y15F	probably benign	Het
Nae1	A	T	8: 105,250,216 (GRCm39)	Y226N	probably benign	Het
Nlrp9a	A	G	7: 26,267,316 (GRCm39)	S715G	probably benign	Het
Or1j10	A	T	2: 36,267,633 (GRCm39)	M282L	probably benign	Het
Or2ag17	T	C	7: 106,390,028 (GRCm39)	Y60C	probably damaging	Het
Or4s2b	T	A	2: 88,508,219 (GRCm39)	S7T	possibly damaging	Het
Or7g26	A	T	9: 19,230,612 (GRCm39)	S267C	probably damaging	Het
Or8g55	G	T	9: 39,784,707 (GRCm39)	M45I	probably benign	Het
Pex5l	T	C	3: 33,069,129 (GRCm39)	T123A	probably damaging	Het
Pip5kl1	A	T	2: 32,466,691 (GRCm39)	N62I	probably benign	Het
Pkhd1l1	T	C	15: 44,408,890 (GRCm39)	V2459A	probably damaging	Het
Prb1a	T	A	6: 132,184,439 (GRCm39)	Q398L	unknown	Het
Prkab2	T	C	3: 97,571,263 (GRCm39)	L165S	probably damaging	Het
Prl3d2	C	G	13: 27,305,689 (GRCm39)		probably benign	Het
Ptdss1	G	A	13: 67,143,472 (GRCm39)	G435D	probably benign	Het
Qrfpr	A	G	3: 36,236,729 (GRCm39)	L224P	probably damaging	Het
Rasl2-9	C	T	7: 5,128,441 (GRCm39)	W163*	probably null	Het
Rgs5	A	G	1: 169,517,983 (GRCm39)		probably null	Het
Rnf19b	T	C	4: 128,972,754 (GRCm39)	L255P	probably damaging	Het
Rp9	A	C	9: 22,368,751 (GRCm39)	N69K	probably damaging	Het
Sh3bp4	G	T	1: 89,073,210 (GRCm39)	S686I	probably damaging	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,785,013 (GRCm39)		probably benign	Het
Spp2	C	A	1: 88,340,015 (GRCm39)	Q5K	possibly damaging	Het
Svep1	C	T	4: 58,070,239 (GRCm39)	G2516R	probably damaging	Het
Syncrip	A	C	9: 88,361,949 (GRCm39)	S55R	probably damaging	Het
Tacc3	T	C	5: 33,818,652 (GRCm39)	L29P	probably damaging	Het
Tex15	A	G	8: 34,065,120 (GRCm39)	T1517A	probably damaging	Het
Tmem140	A	G	6: 34,849,660 (GRCm39)	M59V	probably benign	Het
Ttn	G	T	2: 76,575,872 (GRCm39)	A25007E	probably damaging	Het
Ubr2	T	C	17: 47,297,615 (GRCm39)	T253A	possibly damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Usp38	A	G	8: 81,722,399 (GRCm39)	L374P	probably damaging	Het
Vmn1r42	T	A	6: 89,822,483 (GRCm39)	I29L	probably benign	Het
Vmn2r94	C	T	17: 18,477,242 (GRCm39)	V390M	probably benign	Het
Vmp1	A	G	11: 86,552,026 (GRCm39)	Y113H	possibly damaging	Het
Wdr20	T	C	12: 110,760,464 (GRCm39)	M450T	probably benign	Het
Ylpm1	T	C	12: 85,061,770 (GRCm39)	V557A	unknown	Het
Zpld1	T	C	16: 55,053,935 (GRCm39)	N286D	probably damaging	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
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
R8966:Marveld3	UTSW	8	110,675,019 (GRCm39)	missense	possibly damaging	0.90
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'- ATCTCCTGGGCAGCTTCCTTAGAC -3'
(R):5'- TTCAGCCCATCCGTAGAGCACTTG -3'

Sequencing Primer
(F):5'- GGGCAGCTTCCTTAGACTCTTAG -3'
(R):5'- cctaagttcaattcctagcaacc -3'

Posted On

2014-04-13