Mutagenetix > Incidental Mutation

Incidental Mutation 'R1599:Mmrn1'

176022

Institutional Source

Beutler Lab

Gene Symbol

Mmrn1

Ensembl Gene

ENSMUSG00000054641

Gene Name

multimerin 1

Synonyms

4921530G03Rik, Emilin4

MMRRC Submission

039636-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60924976-60989378 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 60945037 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 159 (M159I)

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: M159I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: M159I

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

noncoding transcript
Transcript: ENSMUST00000145763

Predicted Effect

probably benign
Transcript: ENSMUST00000204333
AA Change: M159I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: M159I

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: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,150,259	E202G	probably damaging	Het
9230110F15Rik	T	C	9: 35,839,037	N113S	probably benign	Het
Adam23	A	G	1: 63,570,933	D698G	possibly damaging	Het
Adam3	T	C	8: 24,725,361	D20G	possibly damaging	Het
Adamts12	T	C	15: 11,071,711	S114P	probably damaging	Het
Adgrg6	T	A	10: 14,467,313	R297*	probably null	Het
Ahdc1	A	T	4: 133,064,936	S1163C	possibly damaging	Het
AI481877	A	T	4: 59,072,349	N622K	possibly damaging	Het
Axl	A	G	7: 25,763,969	Y619H	probably damaging	Het
Bcl11a	G	T	11: 24,163,887	C410F	probably damaging	Het
Brca2	C	A	5: 150,548,713	S2359*	probably null	Het
Calca	A	G	7: 114,634,472	S75P	probably damaging	Het
Ccpg1	T	A	9: 72,999,125	Y54*	probably null	Het
Cfap161	A	T	7: 83,776,079	M268K	possibly damaging	Het
Cfap61	T	A	2: 146,012,163	V365E	probably benign	Het
Cgnl1	T	C	9: 71,641,427	I1000V	probably benign	Het
Chd2	A	T	7: 73,473,051	D978E	probably benign	Het
Ctgf	A	T	10: 24,597,399	R279W	probably benign	Het
Cyth1	G	A	11: 118,177,221	T297M	probably damaging	Het
Dennd1b	T	G	1: 139,167,730	D505E	probably benign	Het
Dgkd	A	G	1: 87,881,886	T99A	possibly damaging	Het
Fam161a	A	T	11: 23,021,093	M180L	probably benign	Het
Gar1	G	T	3: 129,830,604	R80S	probably benign	Het
Gm28042	T	C	2: 120,036,463	S419P	probably benign	Het
Gm5591	A	C	7: 38,520,370	C360G	probably benign	Het
Golga2	A	G	2: 32,303,173	H427R	probably benign	Het
Gpt2	A	G	8: 85,512,234	Y232C	probably damaging	Het
Hnrnpll	T	A	17: 80,053,625	H118L	unknown	Het
Ice2	T	A	9: 69,411,442	C303S	probably null	Het
Ikzf3	C	A	11: 98,467,093	G473C	probably damaging	Het
Kansl3	A	T	1: 36,367,870	D38E	probably damaging	Het
Kcna6	A	T	6: 126,739,319	D202E	probably benign	Het
Klhl21	G	A	4: 152,012,300	G341D	probably damaging	Het
Klhl29	A	T	12: 5,093,538	V497D	probably damaging	Het
Kmt2b	G	A	7: 30,570,575	L2449F	probably damaging	Het
Kmt5c	A	G	7: 4,741,900	E10G	probably damaging	Het
Lama3	C	T	18: 12,450,400	Q682*	probably null	Het
Lamb3	T	C	1: 193,320,493	V82A	probably damaging	Het
Larp4b	C	T	13: 9,122,150	T2I	probably damaging	Het
Man2a1	T	C	17: 64,679,831	Y613H	possibly damaging	Het
Mcm3	G	A	1: 20,820,198	T4I	probably benign	Het
Mki67	C	T	7: 135,699,934	A1124T	probably benign	Het
Mlh3	A	T	12: 85,268,369	L348I	probably damaging	Het
Muc5ac	A	T	7: 141,798,903	Q709L	possibly damaging	Het
Naip2	C	T	13: 100,161,981	A516T	possibly damaging	Het
Nosip	A	G	7: 45,074,006	N32S	probably benign	Het
Npat	T	C	9: 53,562,404	Y499H	possibly damaging	Het
Nt5c1b	T	A	12: 10,390,024	I522N	probably damaging	Het
Olfr347	G	T	2: 36,734,989	V223F	probably benign	Het
Olfr457	T	A	6: 42,471,242	K312M	probably damaging	Het
Olfr653	A	G	7: 104,579,648	M1V	probably null	Het
Olfr850	T	A	9: 19,478,221	T7S	probably damaging	Het
Pappa2	A	G	1: 158,857,172	F799S	probably damaging	Het
Pcdha1	C	T	18: 37,185,237	T941M	probably damaging	Het
Pilrb2	A	T	5: 137,868,597	F215I	possibly damaging	Het
Pkd1l3	G	T	8: 109,636,384	M1092I	probably benign	Het
Ppp1r21	G	T	17: 88,572,627	V491L	probably benign	Het
Prickle2	T	C	6: 92,410,874	T516A	probably benign	Het
Prr27	G	T	5: 87,843,225	R232L	probably benign	Het
Rab3gap2	C	T	1: 185,251,026	T454I	probably benign	Het
Rgs11	C	A	17: 26,208,249	H385N	probably damaging	Het
S1pr5	T	A	9: 21,243,934	T399S	probably benign	Het
Sacs	G	A	14: 61,203,638	M1044I	probably benign	Het
Sec31b	T	A	19: 44,523,153	Q603L	possibly damaging	Het
Setx	G	A	2: 29,140,373	E275K	probably benign	Het
Sh3tc1	G	A	5: 35,707,512	P444S	probably benign	Het
Strn3	T	A	12: 51,652,766	N208Y	possibly damaging	Het
Tmem87a	T	C	2: 120,394,387	N131S	probably damaging	Het
Tmprss13	T	A	9: 45,338,318	W318R	probably damaging	Het
Trabd2b	T	C	4: 114,408,981	V64A	probably damaging	Het
Trafd1	A	T	5: 121,379,657	N24K	probably damaging	Het
Ttc41	T	C	10: 86,776,573	S1237P	probably benign	Het
Ttll1	A	G	15: 83,497,354	V238A	probably benign	Het
Vps50	T	C	6: 3,565,537	S492P	probably benign	Het
Zic1	T	C	9: 91,361,688	I409V	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
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
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'- AAGGATGAAGACGCCTCACTGACC -3'
(R):5'- AGCACAAGAGACCTGTAGCATTCAC -3'

Sequencing Primer
(F):5'- CTGAAGACGATGTTCTCCTACAG -3'
(R):5'- GAGACCTGTAGCATTCACTCATAG -3'

Posted On

2014-04-24