Mutagenetix > Incidental Mutation

Incidental Mutation 'R4880:Mmrn1'

375209

Institutional Source

Beutler Lab

Gene Symbol

Mmrn1

Ensembl Gene

ENSMUSG00000054641

Gene Name

multimerin 1

Synonyms

4921530G03Rik, Emilin4

MMRRC Submission

042489-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4880 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60924976-60989378 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60976439 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 568 (E568G)

Ref Sequence

ENSEMBL: ENSMUSP00000145156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000129603] [ENSMUST00000204333]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000129603
AA Change: E568G

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: E568G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	80	92	N/A	INTRINSIC
Pfam:EMI	193	262	3.3e-12	PFAM
coiled coil region	303	338	N/A	INTRINSIC
coiled coil region	658	688	N/A	INTRINSIC
coiled coil region	808	846	N/A	INTRINSIC
low complexity region	981	992	N/A	INTRINSIC
EGF	1026	1059	1.62e-5	SMART
C1Q	1076	1210	6.74e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204333
AA Change: E568G

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: E568G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	80	92	N/A	INTRINSIC
Pfam:EMI	193	262	7.7e-13	PFAM
coiled coil region	303	338	N/A	INTRINSIC
coiled coil region	658	688	N/A	INTRINSIC
coiled coil region	808	846	N/A	INTRINSIC
low complexity region	981	992	N/A	INTRINSIC
EGF	1025	1058	1.62e-5	SMART
C1Q	1075	1209	6.74e-49	SMART

Meta Mutation Damage Score

0.0704

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

98% (89/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	G	9: 92,354,612	E108G	probably damaging	Het
2610021A01Rik	T	C	7: 41,627,105	I744T	possibly damaging	Het
4931409K22Rik	T	C	5: 24,549,752	D340G	probably benign	Het
Adgrb1	T	A	15: 74,587,022	F1324L	possibly damaging	Het
Adm	A	G	7: 110,629,119	H230R	probably benign	Het
Ank2	A	T	3: 127,046,826		probably null	Het
Arih1	A	T	9: 59,436,885	F156L	possibly damaging	Het
Atf6b	A	G	17: 34,654,555	H660R	probably damaging	Het
Bcl9l	C	A	9: 44,508,710	Q1101K	probably benign	Het
Ccdc174	G	A	6: 91,899,591		probably benign	Het
Ccdc65	A	C	15: 98,722,657		probably null	Het
Cela2a	T	C	4: 141,822,287	N59S	probably benign	Het
Cfap157	A	T	2: 32,778,249	V393E	probably damaging	Het
Chd1	T	C	17: 17,374,654	F17S	probably damaging	Het
Cpne3	T	C	4: 19,540,827	I183V	probably benign	Het
Cyp2d11	C	A	15: 82,392,105	V122L	probably benign	Het
Dcaf8	C	A	1: 172,187,489		probably benign	Het
Dchs1	T	A	7: 105,755,730	D2535V	probably benign	Het
Eif4a2	G	T	16: 23,108,900		probably benign	Het
Fzd4	T	A	7: 89,407,901	D385E	probably benign	Het
Galnt13	C	A	2: 55,060,572	Q422K	probably damaging	Het
Gm9745	A	T	13: 8,940,666		probably null	Het
Gnptab	C	T	10: 88,432,551	Q507*	probably null	Het
Hoxa7	A	G	6: 52,217,034		probably benign	Het
Htra1	T	A	7: 130,962,083	V228D	probably damaging	Het
Ifi203	T	A	1: 173,929,150		probably benign	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,287,732	913	probably null	Het
Itga2b	G	T	11: 102,457,722		probably benign	Het
Itgb1	G	T	8: 128,716,150	R272L	probably damaging	Het
Kif9	A	G	9: 110,501,635	E343G	probably damaging	Het
Klhl5	T	C	5: 65,158,901	V97A	probably damaging	Het
Lama5	C	A	2: 180,177,068		probably benign	Het
Lamb2	A	G	9: 108,484,027		probably null	Het
Lrp1b	T	A	2: 41,770,919	Y59F	probably benign	Het
Mreg	A	G	1: 72,162,336	Y166H	probably damaging	Het
Myh7	C	A	14: 54,978,588	V1323F	probably benign	Het
Nr1i3	T	A	1: 171,216,382	I91K	probably damaging	Het
Nsfl1c	T	A	2: 151,506,310	D206E	probably damaging	Het
Olfr1294	A	T	2: 111,537,353	L312*	probably null	Het
Olfr181	A	C	16: 58,926,100	L157W	probably damaging	Het
Olfr273	A	T	4: 52,856,411	M34K	probably damaging	Het
Olfr318	G	A	11: 58,720,281	L256F	probably benign	Het
Olfr739	T	C	14: 50,425,301	Y261H	possibly damaging	Het
Olfr921	T	A	9: 38,775,547	C97*	probably null	Het
Pcdhb7	C	T	18: 37,342,231	T140I	probably benign	Het
Pcdhgb5	T	G	18: 37,732,588	S479A	probably benign	Het
Pcsk5	T	A	19: 17,447,690	Y1583F	probably damaging	Het
Pias1	T	C	9: 62,912,798	R296G	probably benign	Het
Polr1e	T	A	4: 45,022,280	C100S	probably damaging	Het
Rpap1	C	A	2: 119,783,865	R17L	probably damaging	Het
Rtn1	C	T	12: 72,217,458	V192I	possibly damaging	Het
Ryr2	G	A	13: 11,752,218	P1262L	probably damaging	Het
Slc4a7	G	T	14: 14,757,342	D396Y	probably damaging	Het
Slc5a8	T	C	10: 88,892,024	Y118H	probably damaging	Het
Slc7a6os	T	A	8: 106,210,615	Q71L	probably benign	Het
Sphkap	A	G	1: 83,288,817	V127A	probably damaging	Het
Srpk1	A	G	17: 28,591,225	S580P	probably damaging	Het
Syne2	A	G	12: 75,979,819	I3474V	probably damaging	Het
Tchh	A	G	3: 93,443,823	D190G	possibly damaging	Het
Tenm4	T	A	7: 96,905,818		probably null	Het
Tex14	T	A	11: 87,486,295	I155N	possibly damaging	Het
Tm7sf3	A	T	6: 146,609,860	V377E	possibly damaging	Het
Tnfsf9	T	A	17: 57,105,433	M1K	probably null	Het
Tns2	C	T	15: 102,112,039	T780I	probably damaging	Het
Trdn	T	A	10: 33,471,579	D639E	probably benign	Het
Trmt10a	A	G	3: 138,152,211	E173G	possibly damaging	Het
Ttn	G	A	2: 76,818,775	P10984S	possibly damaging	Het
Tubb6	C	T	18: 67,401,316	T95M	possibly damaging	Het
Uroc1	G	T	6: 90,357,537	R577L	probably damaging	Het
Vmn2r86	T	A	10: 130,453,615	D137V	probably benign	Het
Xkr7	T	C	2: 153,054,953	Y576H	probably damaging	Het
Zfp410	A	G	12: 84,337,675	N355D	probably damaging	Het
Zfp59	C	A	7: 27,844,317	D22E	probably damaging	Het
Zfp64	C	T	2: 168,894,377	R460H	probably damaging	Het
Zfp655	T	C	5: 145,244,358	V342A	probably damaging	Het
Zfp990	G	A	4: 145,537,920	G496E	probably benign	Het

Other mutations in Mmrn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00640:Mmrn1	APN	6	60977513	missense	probably benign
IGL00742:Mmrn1	APN	6	60958120	missense	probably damaging	1.00
IGL00917:Mmrn1	APN	6	60975910	nonsense	probably null
IGL01121:Mmrn1	APN	6	60975944	missense	possibly damaging	0.46
IGL01393:Mmrn1	APN	6	60960708	splice site	probably benign
IGL01697:Mmrn1	APN	6	60976493	missense	possibly damaging	0.46
IGL01737:Mmrn1	APN	6	60977161	missense	probably benign
IGL01944:Mmrn1	APN	6	60971183	critical splice donor site	probably null
IGL01987:Mmrn1	APN	6	60944573	missense	probably benign	0.31
IGL02005:Mmrn1	APN	6	60960744	missense	probably damaging	1.00
IGL02190:Mmrn1	APN	6	60987193	missense	probably benign	0.13
IGL02335:Mmrn1	APN	6	60977147	missense	possibly damaging	0.79
IGL02421:Mmrn1	APN	6	60944822	missense	probably benign	0.00
IGL02530:Mmrn1	APN	6	60958176	missense	possibly damaging	0.73
IGL02709:Mmrn1	APN	6	60973046	missense	probably damaging	1.00
IGL03139:Mmrn1	APN	6	60976340	missense	probably damaging	0.99
IGL03228:Mmrn1	APN	6	60944892	missense	probably benign	0.02
IGL03272:Mmrn1	APN	6	60988435	missense	probably damaging	1.00
IGL03410:Mmrn1	APN	6	60975835	missense	probably benign	0.36
H8562:Mmrn1	UTSW	6	60958180	missense	probably damaging	0.98
K2124:Mmrn1	UTSW	6	60976033	missense	possibly damaging	0.87
R0145:Mmrn1	UTSW	6	60973010	missense	probably damaging	1.00
R0164:Mmrn1	UTSW	6	60975815	splice site	probably benign
R0352:Mmrn1	UTSW	6	60944971	missense	probably benign	0.03
R0400:Mmrn1	UTSW	6	60977115	missense	probably benign	0.00
R0538:Mmrn1	UTSW	6	60976469	missense	probably benign	0.00
R0907:Mmrn1	UTSW	6	60973119	missense	probably benign	0.09
R1117:Mmrn1	UTSW	6	60976325	missense	possibly damaging	0.51
R1383:Mmrn1	UTSW	6	60976322	missense	probably damaging	1.00
R1542:Mmrn1	UTSW	6	60945118	missense	probably damaging	0.98
R1591:Mmrn1	UTSW	6	60944771	nonsense	probably null
R1599:Mmrn1	UTSW	6	60945037	missense	probably benign
R1733:Mmrn1	UTSW	6	60977101	missense	probably benign	0.00
R2005:Mmrn1	UTSW	6	60976084	missense	possibly damaging	0.88
R2056:Mmrn1	UTSW	6	60944805	missense	probably benign	0.00
R2144:Mmrn1	UTSW	6	60945075	missense	possibly damaging	0.54
R2299:Mmrn1	UTSW	6	60976441	missense	probably damaging	0.99
R3836:Mmrn1	UTSW	6	60944847	missense	probably benign
R3837:Mmrn1	UTSW	6	60944847	missense	probably benign
R4206:Mmrn1	UTSW	6	60958180	missense	probably damaging	0.98
R4414:Mmrn1	UTSW	6	60944586	missense	probably damaging	1.00
R4590:Mmrn1	UTSW	6	60960813	missense	probably damaging	1.00
R4707:Mmrn1	UTSW	6	60988473	missense	probably benign	0.12
R4820:Mmrn1	UTSW	6	60973043	missense	probably benign	0.04
R5166:Mmrn1	UTSW	6	60976490	missense	probably benign	0.04
R5324:Mmrn1	UTSW	6	60976586	missense	probably damaging	1.00
R5887:Mmrn1	UTSW	6	60987074	missense	probably benign
R5917:Mmrn1	UTSW	6	60973150	critical splice donor site	probably null
R6108:Mmrn1	UTSW	6	60975976	missense	possibly damaging	0.83
R6539:Mmrn1	UTSW	6	60987184	missense	probably benign	0.01
R6996:Mmrn1	UTSW	6	60977383	missense	probably benign	0.04
R7064:Mmrn1	UTSW	6	60988540	nonsense	probably null
R7073:Mmrn1	UTSW	6	60988427	missense	probably damaging	1.00
R7213:Mmrn1	UTSW	6	60944543	start gained	probably benign
R7256:Mmrn1	UTSW	6	60976114	missense	probably damaging	0.98
R7324:Mmrn1	UTSW	6	60944933	nonsense	probably null
R7350:Mmrn1	UTSW	6	60976336	nonsense	probably null
R7388:Mmrn1	UTSW	6	60976252	missense	probably benign	0.43
R7652:Mmrn1	UTSW	6	60977506	missense	probably benign	0.14
R7664:Mmrn1	UTSW	6	60976705	missense	probably benign	0.44
R7810:Mmrn1	UTSW	6	60976325	missense	probably benign	0.18
R7832:Mmrn1	UTSW	6	60987060	splice site	probably null
R7979:Mmrn1	UTSW	6	60975977	missense	probably damaging	0.96
R8071:Mmrn1	UTSW	6	60944524	start gained	probably benign
R8130:Mmrn1	UTSW	6	60960723	missense	probably damaging	1.00
R8277:Mmrn1	UTSW	6	60977236	missense	probably benign	0.19
R8353:Mmrn1	UTSW	6	60988377	missense	probably damaging	1.00
R8453:Mmrn1	UTSW	6	60988377	missense	probably damaging	1.00
R8472:Mmrn1	UTSW	6	60988396	missense	probably damaging	1.00
R8758:Mmrn1	UTSW	6	60987209	missense	possibly damaging	0.54
R8803:Mmrn1	UTSW	6	60988287	missense	probably damaging	1.00
R8879:Mmrn1	UTSW	6	60976529	missense	probably damaging	0.99
R8907:Mmrn1	UTSW	6	60976093	missense	probably damaging	1.00
R8983:Mmrn1	UTSW	6	60976058	missense	probably benign	0.04
R9200:Mmrn1	UTSW	6	60976876	missense	probably damaging	1.00
R9287:Mmrn1	UTSW	6	60975955	missense	probably damaging	1.00
R9387:Mmrn1	UTSW	6	60958192	nonsense	probably null
R9612:Mmrn1	UTSW	6	60976424	missense	probably damaging	0.96
R9674:Mmrn1	UTSW	6	60971088	nonsense	probably null
X0026:Mmrn1	UTSW	6	60976013	missense	probably benign	0.09
Z1176:Mmrn1	UTSW	6	60945034	missense	probably benign	0.37
Z1177:Mmrn1	UTSW	6	60987098	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TCAGGAACAGAGAATGTCGCC -3'
(R):5'- TGTTGAAGCGACGACCTCTG -3'

Sequencing Primer
(F):5'- ATGTCGCCACTGAGGAATC -3'
(R):5'- AGGCTGAAGGATCTCCATGTC -3'

Posted On

2016-03-17