Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01393:Mmrn1'

79324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmrn1

Ensembl Gene

ENSMUSG00000054641

Gene Name

multimerin 1

Synonyms

4921530G03Rik, Emilin4

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01393

Quality Score

Status

Chromosome

Chromosomal Location

60924976-60989378 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 60960708 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145156 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129603

SMART Domains

Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641

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

SMART Domains

Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641

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

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	A	14: 36,096,422	V126I	possibly damaging	Het
A630073D07Rik	G	T	6: 132,626,614	Q60K	unknown	Het
Alpk2	A	G	18: 65,307,708	S205P	possibly damaging	Het
Ang4	T	A	14: 51,764,213	I93L	probably benign	Het
Arpin	A	G	7: 79,931,840	V44A	possibly damaging	Het
Atxn3	A	T	12: 101,933,047	C263*	probably null	Het
C530008M17Rik	T	C	5: 76,858,971	S1060P	unknown	Het
Cd209f	T	C	8: 4,103,154	N260S	probably damaging	Het
Cdh20	A	G	1: 104,934,244	R50G	probably benign	Het
Csmd3	C	T	15: 48,457,599	V272I	possibly damaging	Het
Dst	A	T	1: 34,167,625	Y1136F	possibly damaging	Het
Fam20c	A	G	5: 138,807,271	Y420C	probably damaging	Het
Fancd2	T	A	6: 113,577,360		probably benign	Het
Fat2	T	C	11: 55,269,309	D3326G	probably benign	Het
Filip1l	A	G	16: 57,572,223	N820S	probably damaging	Het
Gm26566	G	A	4: 88,722,344		probably benign	Het
Gm4792	A	G	10: 94,298,442	L22P	unknown	Het
Gpat2	A	G	2: 127,432,651	E386G	probably damaging	Het
Grm3	T	C	5: 9,589,856	D63G	probably benign	Het
Hdc	A	G	2: 126,594,661	V430A	probably benign	Het
Hnf4a	T	C	2: 163,551,572		probably benign	Het
Il2ra	A	G	2: 11,683,054	D215G	probably damaging	Het
Kctd3	T	C	1: 189,000,290	I74V	probably benign	Het
Kctd5	A	T	17: 24,059,318		probably null	Het
Lrsam1	A	T	2: 32,955,173		probably benign	Het
Mblac1	A	G	5: 138,194,774	N126S	possibly damaging	Het
Mpp3	A	T	11: 102,025,478	L16Q	probably damaging	Het
Mrgprb1	C	A	7: 48,448,006	A53S	possibly damaging	Het
Nbea	C	A	3: 56,005,308	M1019I	probably benign	Het
Nlrp5	A	G	7: 23,404,174	K22R	probably null	Het
Olfr1298	A	G	2: 111,645,256	V247A	probably damaging	Het
Olfr350	G	A	2: 36,850,541	R165Q	probably benign	Het
Olfr700	C	T	7: 106,806,435	G9E	probably benign	Het
Pard6b	T	A	2: 168,087,378	S35T	probably benign	Het
Peli1	T	C	11: 21,147,400	V215A	probably benign	Het
Pkp4	A	T	2: 59,347,925	D1003V	probably damaging	Het
Pot1a	G	A	6: 25,744,631	R625*	probably null	Het
Ppp1r16a	T	C	15: 76,694,544	S483P	probably benign	Het
Prpf8	C	A	11: 75,494,295	A794D	possibly damaging	Het
Prrg3	T	C	X: 71,967,517	V210A	probably benign	Het
Rev1	A	G	1: 38,092,063	V168A	probably damaging	Het
Sez6l	G	T	5: 112,438,395		probably benign	Het
Spag17	A	G	3: 100,027,610	T711A	possibly damaging	Het
Spice1	A	G	16: 44,366,630	I163M	probably benign	Het
Tex13c1	C	T	X: 43,591,356	A66V	probably damaging	Het
Tmem132d	A	T	5: 127,784,638	S806R	probably benign	Het
Tnc	A	G	4: 64,014,054		probably benign	Het
Tpbg	T	A	9: 85,844,092	V38E	unknown	Het
Unc13c	T	A	9: 73,540,270	I1883F	probably benign	Het
Vmn2r61	A	C	7: 42,266,834	Q290H	probably benign	Het
Vps39	A	G	2: 120,350,238		probably benign	Het
Zfp369	T	C	13: 65,294,474	V294A	possibly damaging	Het
Zfp821	T	A	8: 109,709,478		probably benign	Het
Zfp941	C	T	7: 140,811,928	G506E	probably damaging	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
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
R4880:Mmrn1	UTSW	6	60976439	missense	probably benign	0.15
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
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

Posted On

2013-11-05