Mutagenetix > Incidental Mutation

Incidental Mutation 'R7652:Mmrn1'

590909

Institutional Source

Beutler Lab

Gene Symbol

Mmrn1

Ensembl Gene

ENSMUSG00000054641

Gene Name

multimerin 1

Synonyms

4921530G03Rik, Emilin4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7652 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60924976-60989378 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60977506 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 924 (N924D)

Ref Sequence

ENSEMBL: ENSMUSP00000119609 (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: N924D

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: N924D

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: N924D

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: N924D

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (66/66)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,169,218		probably null	Het
Alb	G	C	5: 90,467,355	R242P	probably damaging	Het
Aph1b	T	C	9: 66,784,541	T195A	probably benign	Het
Apoe	G	T	7: 19,696,610	R236S	possibly damaging	Het
Arap3	G	T	18: 37,978,452	T1137K	probably damaging	Het
Arhgap45	C	T	10: 80,028,838	A908V	probably benign	Het
Atp13a1	T	C	8: 69,805,559	C965R	probably damaging	Het
C7	A	G	15: 5,012,105	Y440H	probably damaging	Het
Cacna2d2	T	C	9: 107,524,198		probably null	Het
Ddah2	C	A	17: 35,061,050	R173S	possibly damaging	Het
Dnajc11	T	C	4: 151,974,225	Y337H	probably damaging	Het
Dnajc25	A	G	4: 59,020,483	K302R	probably benign	Het
Dnajc6	A	T	4: 101,606,677	Q209L	probably damaging	Het
Drosha	G	A	15: 12,859,436	V577I	probably benign	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Ebf2	G	T	14: 67,390,567		probably null	Het
Epx	A	G	11: 87,875,334		probably null	Het
Eqtn	T	C	4: 94,928,337	Y73C	probably damaging	Het
Fam107b	A	G	2: 3,772,847	N21S	probably benign	Het
Fasn	G	A	11: 120,816,328	S857F	probably damaging	Het
Fat1	A	G	8: 44,953,299	N1029S	probably damaging	Het
Gas8	A	G	8: 123,526,536	I208V	probably benign	Het
Gm11127	A	T	17: 36,056,783	V221D	probably damaging	Het
Gm3269	T	C	14: 4,839,095	I88T	probably benign	Het
Gm36079	A	T	13: 120,026,993	S7T	possibly damaging	Het
Gm8005	C	A	14: 42,436,962	L136F		Het
Grid2ip	C	A	5: 143,382,638	P743Q	probably damaging	Het
Hbs1l	C	T	10: 21,364,760	T626I	probably benign	Het
Hdac3	T	A	18: 37,954,919		probably benign	Het
Hnrnpab	T	C	11: 51,605,573	Y94C	probably damaging	Het
Homer2	T	C	7: 81,649,666	D17G	probably damaging	Het
Ikbke	C	T	1: 131,271,832	R308Q	probably damaging	Het
Ints10	A	G	8: 68,825,119	T682A	possibly damaging	Het
Klhl3	G	A	13: 58,113,332		probably benign	Het
Klk9	A	T	7: 43,796,090	T235S	probably benign	Het
Kmt2c	T	C	5: 25,315,719	T1798A	probably benign	Het
Kri1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTCCTCCTC	9: 21,281,056		probably benign	Het
Krtap4-6	T	C	11: 99,665,614	I96V	unknown	Het
Lef1	A	C	3: 131,200,354	R354S	probably damaging	Het
Lrp6	A	T	6: 134,511,245	L296*	probably null	Het
Maml2	T	C	9: 13,621,649	Y720H		Het
Myh7b	A	G	2: 155,632,236	K1624E	probably damaging	Het
Nos3	T	A	5: 24,383,612	V1112D	probably damaging	Het
Olfr1136	A	G	2: 87,693,360	I174T	probably damaging	Het
Olfr1216	C	T	2: 89,013,549	V172I	probably benign	Het
Olfr1384	T	C	11: 49,513,685	F16L	probably damaging	Het
Olfr1437	C	A	19: 12,322,287	C180F	probably damaging	Het
Olfr814	A	T	10: 129,874,477	N93K	probably damaging	Het
Phospho1	T	C	11: 95,830,819	L105S	probably damaging	Het
Prss35	T	A	9: 86,755,970	N264K	probably benign	Het
Ptpn13	A	G	5: 103,529,712	D732G	probably benign	Het
Rab18	A	T	18: 6,783,123	T64S	possibly damaging	Het
Rft1	A	G	14: 30,677,816	Q319R	probably benign	Het
Rgs7	T	A	1: 175,093,830	M220L	probably benign	Het
Rnf13	A	G	3: 57,764,351	N28S	probably benign	Het
Setd3	A	T	12: 108,112,289	I311N	probably damaging	Het
Setd5	G	A	6: 113,121,764	R786H	probably damaging	Het
Slc26a6	T	C	9: 108,855,944		probably null	Het
Slc26a9	A	T	1: 131,763,896	T626S	probably benign	Het
Stambp	A	T	6: 83,563,928		probably null	Het
Stom	A	T	2: 35,316,029	N229K	probably benign	Het
Tlr1	A	T	5: 64,926,787	L149*	probably null	Het
Trpc3	C	A	3: 36,638,528	V772F	probably benign	Het
Ube3a	A	G	7: 59,243,354		probably benign	Het
Ugt2b35	T	A	5: 87,001,510	F207I	probably damaging	Het
Usp53	A	T	3: 122,953,235	D360E	possibly damaging	Het
Vmn2r96	T	G	17: 18,573,570	S59A	probably benign	Het
Wdr70	A	G	15: 8,079,216	C149R	probably benign	Het
Wnt3	A	G	11: 103,812,464	T258A	possibly damaging	Het
Zfp729b	T	C	13: 67,591,252	T965A	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
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
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'- TCGTTTGCAAGGCATTGAATC -3'
(R):5'- GGCTTGACAATATTTGCCAGAG -3'

Sequencing Primer
(F):5'- TGCAAGGCATTGAATCTAAAGTGACC -3'
(R):5'- CCAGAGTGTCAGATAACAATCGGTC -3'

Posted On

2019-10-24