Mutagenetix > Incidental Mutation

Incidental Mutation 'R9287:Mmrn1'

704002

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 #

R9287 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60924976-60989378 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 60975955 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 407 (T407P)

Ref Sequence

ENSEMBL: ENSMUSP00000119609 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000129603
AA Change: T407P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: T407P

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 damaging
Transcript: ENSMUST00000204333
AA Change: T407P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: T407P

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (109/109)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	C	1: 26,683,345	D918G	possibly damaging	Het
9430097D07Rik	T	A	2: 32,575,166		probably benign	Het
Aadacl2	C	A	3: 60,025,152	H363N	probably damaging	Het
Ace3	T	G	11: 105,997,420	S319A	probably damaging	Het
Amer3	C	T	1: 34,588,819	P713L	possibly damaging	Het
Aoah	T	C	13: 21,002,709	L453P	probably damaging	Het
Asz1	A	T	6: 18,051,291	L463Q	possibly damaging	Het
Bpifb6	T	A	2: 153,904,615	V143D	probably damaging	Het
C87414	G	A	5: 93,638,110	H104Y	possibly damaging	Het
Cad	T	A	5: 31,072,656	M1499K	possibly damaging	Het
Casp9	T	A	4: 141,807,160	C294S	probably benign	Het
Ccdc7b	T	A	8: 129,163,840	S65T	probably benign	Het
Cdh23	G	A	10: 60,307,527	A3005V	possibly damaging	Het
Cfap54	T	C	10: 92,969,703	Y1515C	possibly damaging	Het
Chrm5	A	C	2: 112,479,265	F502C	probably damaging	Het
Cnst	A	T	1: 179,579,543	T52S	possibly damaging	Het
Cntn6	T	C	6: 104,832,510	I502T	possibly damaging	Het
Col7a1	G	A	9: 108,958,389	V617M	unknown	Het
Ctsb	A	G	14: 63,133,426	D29G	probably benign	Het
Cyp3a44	T	A	5: 145,788,392	Q333L	possibly damaging	Het
Dnajc27	T	C	12: 4,096,256	V95A	possibly damaging	Het
Eea1	T	A	10: 95,995,583	Y179N	probably damaging	Het
Erbb2	T	C	11: 98,435,281	M961T	probably damaging	Het
Fat4	G	A	3: 38,891,632	G1558D	probably damaging	Het
Foxh1	T	C	15: 76,668,926	E196G	probably damaging	Het
Gcc2	T	A	10: 58,269,395	L151*	probably null	Het
Gcdh	C	T	8: 84,889,684	G294D	probably damaging	Het
Gcnt3	A	T	9: 70,034,411	F292I	probably damaging	Het
Glod4	T	C	11: 76,237,684	S131G	probably benign	Het
Gpc2	G	A	5: 138,274,324	L576F	unknown	Het
Gphn	G	A	12: 78,562,872	S330N	possibly damaging	Het
Heatr5a	C	T	12: 51,920,477	C872Y	probably damaging	Het
Hephl1	G	A	9: 15,084,479	S449L	probably benign	Het
Hrasls5	T	A	19: 7,619,326	Y159*	probably null	Het
Hrh2	G	T	13: 54,214,339	M111I	probably benign	Het
Igfn1	A	G	1: 135,997,806	V70A	probably benign	Het
Il2	G	A	3: 37,125,839	T23I	probably damaging	Het
Irak4	A	G	15: 94,563,036	T382A	possibly damaging	Het
Itih2	A	G	2: 10,123,486	S135P	possibly damaging	Het
Kansl3	C	T	1: 36,349,416	D457N	probably damaging	Het
Kcns3	A	G	12: 11,091,600	I366T	probably damaging	Het
Kif26a	C	A	12: 112,179,285	Y1743*	probably null	Het
Lama4	A	T	10: 39,105,964	I1730F	probably damaging	Het
Lax1	T	C	1: 133,680,193	N270S	probably benign	Het
Lrp1	G	T	10: 127,567,364	D2113E	probably damaging	Het
Lrp6	A	G	6: 134,506,296	V482A	probably benign	Het
Luzp2	A	G	7: 55,264,360		probably benign	Het
Mc5r	C	A	18: 68,339,129	D186E	probably damaging	Het
Mcph1	A	T	8: 18,607,277		probably null	Het
Mgam	A	G	6: 40,728,971		probably benign	Het
Mrpl1	T	C	5: 96,238,947	V265A	probably benign	Het
Mrpl15	C	T	1: 4,776,633	G240D	probably damaging	Het
Msx1	A	T	5: 37,821,451	M240K	probably damaging	Het
Mtf1	T	C	4: 124,831,141	L337P	probably damaging	Het
Muc5ac	T	A	7: 141,807,889	C1646S	probably damaging	Het
Mvb12a	C	A	8: 71,546,994	T219N	probably damaging	Het
Myo16	G	A	8: 10,476,114	V885M	unknown	Het
N4bp2	T	A	5: 65,803,512	S509T	probably benign	Het
Nckap1	A	G	2: 80,553,406	V144A	possibly damaging	Het
Nkx2-6	G	T	14: 69,174,955	G191C	possibly damaging	Het
Nmnat2	T	C	1: 153,086,392	I126T	probably damaging	Het
Nrp2	C	T	1: 62,795,855	R863W	probably damaging	Het
Nup188	C	T	2: 30,336,714	R1168C	probably damaging	Het
Oas3	T	A	5: 120,754,689	D1091V	probably damaging	Het
Olfr911-ps1	C	T	9: 38,523,786	T18I	probably damaging	Het
Optn	T	A	2: 5,031,315	Q452L	probably damaging	Het
Pcca	G	A	14: 122,616,766	V157I	probably benign	Het
Pcdha9	A	G	18: 36,999,228	D450G	probably benign	Het
Pcnx	T	A	12: 81,995,549	S38T	probably benign	Het
Phrf1	C	G	7: 141,260,142	D1083E	probably benign	Het
Plcb4	G	A	2: 135,987,897	A947T	probably benign	Het
Ppp1r3g	G	A	13: 35,968,851	D85N	possibly damaging	Het
Prom2	A	C	2: 127,538,265	V349G	probably damaging	Het
Prrc2c	C	T	1: 162,714,274	S382N	probably benign	Het
Rai14	A	T	15: 10,592,118	N230K	probably benign	Het
Rexo5	A	T	7: 119,802,802	K142I	probably damaging	Het
Rgs22	T	C	15: 36,098,263	H484R	probably damaging	Het
Rims2	C	T	15: 39,679,690	A1440V	probably damaging	Het
Serpinb1a	T	C	13: 32,842,963	E332G	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Slc26a7	C	T	4: 14,516,165	G555S	possibly damaging	Het
Slc4a2	A	T	5: 24,434,125	D386V	probably damaging	Het
Slc6a17	C	T	3: 107,477,235	V350M	probably damaging	Het
Smc2	A	G	4: 52,449,361	Y174C	probably damaging	Het
Smoc2	A	G	17: 14,399,424	Y355C	probably damaging	Het
Smpd1	T	A	7: 105,555,235	V107E	probably benign	Het
Snapc1	T	C	12: 73,971,999		probably benign	Het
Steap4	T	G	5: 7,976,683	F215L	probably benign	Het
Tbc1d1	T	A	5: 64,278,021	S501T	probably damaging	Het
Tec	A	G	5: 72,768,774	Y312H	probably damaging	Het
Ticrr	C	A	7: 79,693,768	T1127K	possibly damaging	Het
Tlk2	A	G	11: 105,256,896	D438G	probably benign	Het
Tln2	C	A	9: 67,370,698	V343L	probably benign	Het
Tmem156	T	A	5: 65,073,805	I241F	probably damaging	Het
Tmtc1	G	T	6: 148,284,892	N559K	probably benign	Het
Trbv4	A	T	6: 41,059,762	I74F	probably benign	Het
Trmt1l	C	T	1: 151,453,148	P524S	probably damaging	Het
Trpa1	A	T	1: 14,885,816	C776*	probably null	Het
Ttc41	T	A	10: 86,763,966	S1043R	probably benign	Het
Ttn	A	G	2: 76,746,302	L24749S	probably damaging	Het
Ube2o	C	T	11: 116,581,116	G100R	probably damaging	Het
Unc5b	T	C	10: 60,773,753	E588G	possibly damaging	Het
Usp43	G	T	11: 67,880,096	Q571K	probably damaging	Het
Vmn1r127	G	A	7: 21,319,002	P287L	possibly damaging	Het
Wasf3	T	A	5: 146,461,047	M208K	possibly damaging	Het
Xab2	A	G	8: 3,613,000	F527S	possibly damaging	Het
Zfp644	T	G	5: 106,637,908	N258H	possibly damaging	Het
Zfp947	A	C	17: 22,145,613	F360C	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
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
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
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'- ACTGCAGTGAAAAGCATTTACC -3'
(R):5'- TGACAGGCTTCTCACAGGTC -3'

Sequencing Primer
(F):5'- GCAGTGAAAAGCATTTACCTTTTGCC -3'
(R):5'- ACAGGTCAAGGCCATTTCCTG -3'

Posted On

2022-03-25