Mutagenetix > Incidental Mutation

Incidental Mutation 'R4707:Mmrn1'

355315

Institutional Source

Beutler Lab

Gene Symbol

Mmrn1

Ensembl Gene

ENSMUSG00000054641

Gene Name

multimerin 1

Synonyms

Emilin4, 4921530G03Rik

MMRRC Submission

041955-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4707 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60921301-60966362 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60965457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1162 (I1162L)

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: I1163L

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: I1163L

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: I1162L

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: I1162L

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,224,544 (GRCm39)	K450R	probably damaging	Het
Abcd2	T	C	15: 91,043,385 (GRCm39)	D601G	probably benign	Het
Abcf3	A	G	16: 20,367,808 (GRCm39)	K56E	possibly damaging	Het
Acaca	T	C	11: 84,203,680 (GRCm39)	V1477A	probably damaging	Het
Adamts20	G	A	15: 94,231,528 (GRCm39)	P887L	possibly damaging	Het
Ahnak	T	G	19: 8,994,099 (GRCm39)	S5128A	probably benign	Het
Ahsa2	C	A	11: 23,443,162 (GRCm39)	V197F	probably benign	Het
Ak9	C	A	10: 41,221,456 (GRCm39)	H402N	probably benign	Het
Alpk1	G	T	3: 127,481,241 (GRCm39)	N175K	possibly damaging	Het
Als2	A	G	1: 59,254,472 (GRCm39)	V295A	probably benign	Het
Ankrd16	A	G	2: 11,783,608 (GRCm39)	D70G	probably damaging	Het
Apob	A	T	12: 8,056,205 (GRCm39)	K1562N	probably damaging	Het
Arfgap2	C	A	2: 91,100,316 (GRCm39)	S250R	probably damaging	Het
Arhgef10l	C	T	4: 140,264,194 (GRCm39)	M671I	possibly damaging	Het
Atrnl1	A	G	19: 57,617,590 (GRCm39)	I122V	probably damaging	Het
B4galnt2	C	T	11: 95,766,923 (GRCm39)		probably null	Het
C8a	A	G	4: 104,713,618 (GRCm39)	Y171H	probably damaging	Het
Cacnb4	A	G	2: 52,364,927 (GRCm39)	V112A	probably benign	Het
Capn9	G	T	8: 125,340,195 (GRCm39)	C566F	possibly damaging	Het
Ccdc88a	T	A	11: 29,397,956 (GRCm39)	S230T	probably benign	Het
Cd300c2	A	T	11: 114,887,811 (GRCm39)	F197Y	probably benign	Het
Chd5	A	G	4: 152,445,039 (GRCm39)	Y340C	probably damaging	Het
Chrd	A	T	16: 20,557,558 (GRCm39)	I726F	possibly damaging	Het
Chrna10	G	A	7: 101,762,426 (GRCm39)	P255S	possibly damaging	Het
Clasp1	T	A	1: 118,470,927 (GRCm39)	Y197*	probably null	Het
Cyp2c69	C	G	19: 39,837,852 (GRCm39)	G410A	probably benign	Het
Cyp2e1	G	A	7: 140,343,821 (GRCm39)	V20I	possibly damaging	Het
Dapp1	T	C	3: 137,638,928 (GRCm39)	D225G	probably benign	Het
Dnah5	A	T	15: 28,372,521 (GRCm39)	D2924V	probably damaging	Het
Efcab12	A	T	6: 115,791,510 (GRCm39)	L554Q	possibly damaging	Het
Emsy	T	C	7: 98,246,311 (GRCm39)	T228A	possibly damaging	Het
Evc2	G	A	5: 37,579,204 (GRCm39)	V1106I	probably benign	Het
Exoc8	G	T	8: 125,624,209 (GRCm39)	Q53K	possibly damaging	Het
Fbn2	A	T	18: 58,189,344 (GRCm39)	V1594D	probably damaging	Het
Fer1l4	T	C	2: 155,887,543 (GRCm39)	Y551C	possibly damaging	Het
Fhip1a	G	T	3: 85,595,877 (GRCm39)	T115K	probably damaging	Het
Fmnl3	A	G	15: 99,221,362 (GRCm39)	M481T	probably benign	Het
Fras1	A	G	5: 96,883,097 (GRCm39)	N2543S	probably damaging	Het
Fsd2	T	C	7: 81,209,428 (GRCm39)	D138G	probably damaging	Het
Gda	C	T	19: 21,405,992 (GRCm39)	V5I	probably benign	Het
Glt8d2	A	T	10: 82,496,583 (GRCm39)	D158E	probably damaging	Het
Gpx6	C	T	13: 21,496,434 (GRCm39)	Q3*	probably null	Het
Greb1l	A	G	18: 10,532,922 (GRCm39)	M830V	probably benign	Het
Hnrnpul1	A	C	7: 25,426,258 (GRCm39)	V531G	probably damaging	Het
Ifi206	A	T	1: 173,308,432 (GRCm39)	H521Q	probably benign	Het
Igsf3	G	C	3: 101,365,410 (GRCm39)	R1127P	probably benign	Het
Il1rl1	A	G	1: 40,489,348 (GRCm39)	R367G	probably damaging	Het
Islr	T	C	9: 58,064,970 (GRCm39)	D179G	possibly damaging	Het
Jcad	G	T	18: 4,649,338 (GRCm39)	E70*	probably null	Het
Kcnd2	T	C	6: 21,723,211 (GRCm39)	I467T	probably benign	Het
Lrrc27	A	G	7: 138,822,614 (GRCm39)	T502A	probably benign	Het
Lrrtm3	T	A	10: 63,923,781 (GRCm39)	H462L	probably benign	Het
Mbd5	T	C	2: 49,140,168 (GRCm39)	L44S	probably damaging	Het
Mccc1	C	A	3: 36,030,022 (GRCm39)	M429I	probably damaging	Het
Mgam	A	T	6: 40,691,566 (GRCm39)		probably null	Het
Mipep	T	A	14: 61,109,552 (GRCm39)	I643N	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mug1	G	A	6: 121,861,600 (GRCm39)	C1354Y	probably damaging	Het
Nbeal2	A	T	9: 110,461,123 (GRCm39)	S1647T	probably benign	Het
Ndufaf2	C	G	13: 108,189,314 (GRCm39)	A145P	probably damaging	Het
Nedd9	A	T	13: 41,492,051 (GRCm39)		probably null	Het
Nr4a2	T	A	2: 57,002,105 (GRCm39)	H116L	probably benign	Het
Nwd2	A	G	5: 63,951,665 (GRCm39)	Y232C	probably damaging	Het
Odf4	A	G	11: 68,817,514 (GRCm39)	L58P	probably damaging	Het
Or2a20	T	A	6: 43,193,883 (GRCm39)	V12D	probably benign	Het
Or4a27	T	A	2: 88,559,056 (GRCm39)	M296L	possibly damaging	Het
Or4c116	A	T	2: 88,942,576 (GRCm39)	F93L	probably damaging	Het
Or4g17	T	A	2: 111,209,990 (GRCm39)	L215H	probably damaging	Het
Or7e165	C	T	9: 19,694,596 (GRCm39)	H18Y	probably damaging	Het
Or8g24	A	G	9: 38,989,558 (GRCm39)	V161A	probably benign	Het
Or8s5	G	T	15: 98,238,659 (GRCm39)	H70Q	possibly damaging	Het
Orc6	T	A	8: 86,029,579 (GRCm39)	I41K	probably damaging	Het
Pikfyve	A	G	1: 65,307,005 (GRCm39)	T1798A	probably benign	Het
Prdx6b	T	C	2: 80,123,404 (GRCm39)	L71P	probably damaging	Het
Prmt2	A	G	10: 76,062,055 (GRCm39)	I50T	probably damaging	Het
Ptdss1	T	C	13: 67,143,482 (GRCm39)		probably null	Het
Pygl	T	C	12: 70,254,532 (GRCm39)	T138A	possibly damaging	Het
Rab3c	T	C	13: 110,198,434 (GRCm39)	E198G	probably benign	Het
Rbl2	A	G	8: 91,812,196 (GRCm39)	Y255C	probably damaging	Het
Rev3l	T	A	10: 39,699,393 (GRCm39)	S1297T	probably damaging	Het
Rgma	C	A	7: 73,067,564 (GRCm39)	T367K	probably damaging	Het
Rps6ka5	C	T	12: 100,564,144 (GRCm39)		probably null	Het
Rslcan18	A	T	13: 67,246,590 (GRCm39)	C217S	probably damaging	Het
Rtp3	A	G	9: 110,815,279 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,745,087 (GRCm39)	N3848K	probably damaging	Het
Sema6a	T	A	18: 47,381,779 (GRCm39)	T923S	probably benign	Het
Serpinb6d	A	T	13: 33,855,336 (GRCm39)	T337S	possibly damaging	Het
Sf3b1	G	A	1: 55,029,666 (GRCm39)	T1112M	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sidt1	A	T	16: 44,090,221 (GRCm39)	Y369*	probably null	Het
Slc16a6	A	G	11: 109,354,193 (GRCm39)	S59P	probably benign	Het
Slc25a17	A	C	15: 81,211,527 (GRCm39)	L163W	probably damaging	Het
Slc44a3	T	C	3: 121,320,723 (GRCm39)	T93A	possibly damaging	Het
Sptbn1	T	C	11: 30,087,197 (GRCm39)	T1081A	possibly damaging	Het
Sptbn4	T	C	7: 27,116,431 (GRCm39)	D456G	probably benign	Het
Sycp1	C	A	3: 102,760,805 (GRCm39)	A703S	possibly damaging	Het
Tas2r118	T	A	6: 23,969,225 (GRCm39)	M279L	probably benign	Het
Tc2n	T	G	12: 101,660,832 (GRCm39)	Q133H	probably benign	Het
Tctn1	A	G	5: 122,399,468 (GRCm39)		probably null	Het
Tenm4	A	C	7: 96,423,253 (GRCm39)	K683Q	probably damaging	Het
Tex10	A	T	4: 48,468,984 (GRCm39)	S64T	probably benign	Het
Tex15	A	G	8: 34,072,525 (GRCm39)	T2691A	probably benign	Het
Tmem175	A	T	5: 108,790,016 (GRCm39)	T123S	probably damaging	Het
Tsc1	C	A	2: 28,562,419 (GRCm39)	S348R	probably damaging	Het
Ttll4	A	T	1: 74,718,166 (GRCm39)	T6S	possibly damaging	Het
Ttll8	A	T	15: 88,801,293 (GRCm39)	I465N	probably damaging	Het
Ubr3	A	G	2: 69,768,714 (GRCm39)		probably benign	Het
Ugdh	A	T	5: 65,580,695 (GRCm39)		probably null	Het
Usp34	T	C	11: 23,437,215 (GRCm39)	L3326S	probably damaging	Het
Vmn2r125	A	T	4: 156,702,276 (GRCm39)	I21F	probably damaging	Het
Vps9d1	G	A	8: 123,975,351 (GRCm39)		probably benign	Het
Xab2	G	A	8: 3,668,117 (GRCm39)	R154C	possibly damaging	Het
Zbtb12	T	C	17: 35,114,475 (GRCm39)	S87P	probably damaging	Het
Zc3h12a	A	G	4: 125,014,686 (GRCm39)	M266T	probably damaging	Het
Zfp108	G	A	7: 23,959,837 (GRCm39)	A143T	probably benign	Het

Other mutations in Mmrn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00640:Mmrn1	APN	6	60,954,497 (GRCm39)	missense	probably benign
IGL00742:Mmrn1	APN	6	60,935,104 (GRCm39)	missense	probably damaging	1.00
IGL00917:Mmrn1	APN	6	60,952,894 (GRCm39)	nonsense	probably null
IGL01121:Mmrn1	APN	6	60,952,928 (GRCm39)	missense	possibly damaging	0.46
IGL01393:Mmrn1	APN	6	60,937,692 (GRCm39)	splice site	probably benign
IGL01697:Mmrn1	APN	6	60,953,477 (GRCm39)	missense	possibly damaging	0.46
IGL01737:Mmrn1	APN	6	60,954,145 (GRCm39)	missense	probably benign
IGL01944:Mmrn1	APN	6	60,948,167 (GRCm39)	critical splice donor site	probably null
IGL01987:Mmrn1	APN	6	60,921,557 (GRCm39)	missense	probably benign	0.31
IGL02005:Mmrn1	APN	6	60,937,728 (GRCm39)	missense	probably damaging	1.00
IGL02190:Mmrn1	APN	6	60,964,177 (GRCm39)	missense	probably benign	0.13
IGL02335:Mmrn1	APN	6	60,954,131 (GRCm39)	missense	possibly damaging	0.79
IGL02421:Mmrn1	APN	6	60,921,806 (GRCm39)	missense	probably benign	0.00
IGL02530:Mmrn1	APN	6	60,935,160 (GRCm39)	missense	possibly damaging	0.73
IGL02709:Mmrn1	APN	6	60,950,030 (GRCm39)	missense	probably damaging	1.00
IGL03139:Mmrn1	APN	6	60,953,324 (GRCm39)	missense	probably damaging	0.99
IGL03228:Mmrn1	APN	6	60,921,876 (GRCm39)	missense	probably benign	0.02
IGL03272:Mmrn1	APN	6	60,965,419 (GRCm39)	missense	probably damaging	1.00
IGL03410:Mmrn1	APN	6	60,952,819 (GRCm39)	missense	probably benign	0.36
H8562:Mmrn1	UTSW	6	60,935,164 (GRCm39)	missense	probably damaging	0.98
K2124:Mmrn1	UTSW	6	60,953,017 (GRCm39)	missense	possibly damaging	0.87
R0145:Mmrn1	UTSW	6	60,949,994 (GRCm39)	missense	probably damaging	1.00
R0164:Mmrn1	UTSW	6	60,952,799 (GRCm39)	splice site	probably benign
R0352:Mmrn1	UTSW	6	60,921,955 (GRCm39)	missense	probably benign	0.03
R0400:Mmrn1	UTSW	6	60,954,099 (GRCm39)	missense	probably benign	0.00
R0538:Mmrn1	UTSW	6	60,953,453 (GRCm39)	missense	probably benign	0.00
R0907:Mmrn1	UTSW	6	60,950,103 (GRCm39)	missense	probably benign	0.09
R1117:Mmrn1	UTSW	6	60,953,309 (GRCm39)	missense	possibly damaging	0.51
R1383:Mmrn1	UTSW	6	60,953,306 (GRCm39)	missense	probably damaging	1.00
R1542:Mmrn1	UTSW	6	60,922,102 (GRCm39)	missense	probably damaging	0.98
R1591:Mmrn1	UTSW	6	60,921,755 (GRCm39)	nonsense	probably null
R1599:Mmrn1	UTSW	6	60,922,021 (GRCm39)	missense	probably benign
R1733:Mmrn1	UTSW	6	60,954,085 (GRCm39)	missense	probably benign	0.00
R2005:Mmrn1	UTSW	6	60,953,068 (GRCm39)	missense	possibly damaging	0.88
R2056:Mmrn1	UTSW	6	60,921,789 (GRCm39)	missense	probably benign	0.00
R2144:Mmrn1	UTSW	6	60,922,059 (GRCm39)	missense	possibly damaging	0.54
R2299:Mmrn1	UTSW	6	60,953,425 (GRCm39)	missense	probably damaging	0.99
R3836:Mmrn1	UTSW	6	60,921,831 (GRCm39)	missense	probably benign
R3837:Mmrn1	UTSW	6	60,921,831 (GRCm39)	missense	probably benign
R4206:Mmrn1	UTSW	6	60,935,164 (GRCm39)	missense	probably damaging	0.98
R4414:Mmrn1	UTSW	6	60,921,570 (GRCm39)	missense	probably damaging	1.00
R4590:Mmrn1	UTSW	6	60,937,797 (GRCm39)	missense	probably damaging	1.00
R4820:Mmrn1	UTSW	6	60,950,027 (GRCm39)	missense	probably benign	0.04
R4880:Mmrn1	UTSW	6	60,953,423 (GRCm39)	missense	probably benign	0.15
R5166:Mmrn1	UTSW	6	60,953,474 (GRCm39)	missense	probably benign	0.04
R5324:Mmrn1	UTSW	6	60,953,570 (GRCm39)	missense	probably damaging	1.00
R5887:Mmrn1	UTSW	6	60,964,058 (GRCm39)	missense	probably benign
R5917:Mmrn1	UTSW	6	60,950,134 (GRCm39)	critical splice donor site	probably null
R6108:Mmrn1	UTSW	6	60,952,960 (GRCm39)	missense	possibly damaging	0.83
R6539:Mmrn1	UTSW	6	60,964,168 (GRCm39)	missense	probably benign	0.01
R6996:Mmrn1	UTSW	6	60,954,367 (GRCm39)	missense	probably benign	0.04
R7064:Mmrn1	UTSW	6	60,965,524 (GRCm39)	nonsense	probably null
R7073:Mmrn1	UTSW	6	60,965,411 (GRCm39)	missense	probably damaging	1.00
R7213:Mmrn1	UTSW	6	60,921,527 (GRCm39)	start gained	probably benign
R7256:Mmrn1	UTSW	6	60,953,098 (GRCm39)	missense	probably damaging	0.98
R7324:Mmrn1	UTSW	6	60,921,917 (GRCm39)	nonsense	probably null
R7350:Mmrn1	UTSW	6	60,953,320 (GRCm39)	nonsense	probably null
R7388:Mmrn1	UTSW	6	60,953,236 (GRCm39)	missense	probably benign	0.43
R7652:Mmrn1	UTSW	6	60,954,490 (GRCm39)	missense	probably benign	0.14
R7664:Mmrn1	UTSW	6	60,953,689 (GRCm39)	missense	probably benign	0.44
R7810:Mmrn1	UTSW	6	60,953,309 (GRCm39)	missense	probably benign	0.18
R7832:Mmrn1	UTSW	6	60,964,044 (GRCm39)	splice site	probably null
R7979:Mmrn1	UTSW	6	60,952,961 (GRCm39)	missense	probably damaging	0.96
R8071:Mmrn1	UTSW	6	60,921,508 (GRCm39)	start gained	probably benign
R8130:Mmrn1	UTSW	6	60,937,707 (GRCm39)	missense	probably damaging	1.00
R8277:Mmrn1	UTSW	6	60,954,220 (GRCm39)	missense	probably benign	0.19
R8353:Mmrn1	UTSW	6	60,965,361 (GRCm39)	missense	probably damaging	1.00
R8453:Mmrn1	UTSW	6	60,965,361 (GRCm39)	missense	probably damaging	1.00
R8472:Mmrn1	UTSW	6	60,965,380 (GRCm39)	missense	probably damaging	1.00
R8758:Mmrn1	UTSW	6	60,964,193 (GRCm39)	missense	possibly damaging	0.54
R8803:Mmrn1	UTSW	6	60,965,271 (GRCm39)	missense	probably damaging	1.00
R8879:Mmrn1	UTSW	6	60,953,513 (GRCm39)	missense	probably damaging	0.99
R8907:Mmrn1	UTSW	6	60,953,077 (GRCm39)	missense	probably damaging	1.00
R8983:Mmrn1	UTSW	6	60,953,042 (GRCm39)	missense	probably benign	0.04
R9200:Mmrn1	UTSW	6	60,953,860 (GRCm39)	missense	probably damaging	1.00
R9287:Mmrn1	UTSW	6	60,952,939 (GRCm39)	missense	probably damaging	1.00
R9387:Mmrn1	UTSW	6	60,935,176 (GRCm39)	nonsense	probably null
R9612:Mmrn1	UTSW	6	60,953,408 (GRCm39)	missense	probably damaging	0.96
R9674:Mmrn1	UTSW	6	60,948,072 (GRCm39)	nonsense	probably null
X0026:Mmrn1	UTSW	6	60,952,997 (GRCm39)	missense	probably benign	0.09
Z1176:Mmrn1	UTSW	6	60,922,018 (GRCm39)	missense	probably benign	0.37
Z1177:Mmrn1	UTSW	6	60,964,082 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CTCACACTCACGGAATGACG -3'
(R):5'- AGAGAGGTGAGAGTCTACCTC -3'

Sequencing Primer
(F):5'- TGATCTAAGCGTCAACTATGGGGC -3'
(R):5'- TCTCACACAAACTTAGGTGCG -3'

Posted On

2015-10-21