Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02190:Mmrn1'

283827

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmrn1

Ensembl Gene

ENSMUSG00000054641

Gene Name

multimerin 1

Synonyms

Emilin4, 4921530G03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02190

Quality Score

Status

Chromosome

Chromosomal Location

60921301-60966362 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 60964177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 1059 (V1059L)

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: V1060L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: V1060L

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: V1059L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: V1059L

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,217,788 (GRCm39)		probably benign	Het
Ano1	T	C	7: 144,172,620 (GRCm39)	E521G	probably benign	Het
As3mt	A	T	19: 46,708,384 (GRCm39)	I224F	probably benign	Het
Atp5mf	C	A	5: 145,120,642 (GRCm39)		probably benign	Het
Cacna1h	A	G	17: 25,652,000 (GRCm39)	V48A	probably benign	Het
Ctu2	T	C	8: 123,208,397 (GRCm39)		probably benign	Het
Ecpas	A	T	4: 58,800,190 (GRCm39)	S1838R	probably benign	Het
Efcab5	T	C	11: 77,012,140 (GRCm39)	R841G	probably benign	Het
Erbb3	A	T	10: 128,406,879 (GRCm39)		probably null	Het
Fkbp15	G	T	4: 62,223,059 (GRCm39)	P947T	possibly damaging	Het
Gabpb1	A	G	2: 126,495,469 (GRCm39)		probably benign	Het
Gcn1	G	T	5: 115,752,183 (GRCm39)	V2100L	probably damaging	Het
Gemin5	A	C	11: 58,025,668 (GRCm39)	V977G	probably damaging	Het
Gpr107	T	A	2: 31,068,332 (GRCm39)	Y265N	probably damaging	Het
Gpx8	T	C	13: 113,179,843 (GRCm39)		probably benign	Het
H2-Eb2	A	T	17: 34,553,348 (GRCm39)	N178I	probably damaging	Het
Ift172	C	T	5: 31,411,802 (GRCm39)	V1587I	possibly damaging	Het
Lrrc45	A	G	11: 120,609,334 (GRCm39)	T398A	probably damaging	Het
Morn5	A	G	2: 35,969,527 (GRCm39)	D147G	probably benign	Het
Mphosph9	T	C	5: 124,403,488 (GRCm39)	R847G	possibly damaging	Het
Nutm1	C	T	2: 112,079,751 (GRCm39)	W721*	probably null	Het
Or1j18	T	C	2: 36,624,591 (GRCm39)	L86P	probably benign	Het
Or2j6	T	C	7: 139,980,033 (GRCm39)		probably benign	Het
Or5w13	A	G	2: 87,523,407 (GRCm39)	M273T	probably benign	Het
Rgl3	A	G	9: 21,893,004 (GRCm39)	F227L	probably benign	Het
Ropn1l	G	T	15: 31,443,487 (GRCm39)	L182I	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Scgb1a1	A	T	19: 9,065,231 (GRCm39)	L12Q	probably damaging	Het
Scp2	A	G	4: 107,944,325 (GRCm39)	S237P	probably benign	Het
Skint5	T	C	4: 113,797,962 (GRCm39)	Q207R	possibly damaging	Het
Slc16a5	A	G	11: 115,353,435 (GRCm39)	M1V	probably null	Het
Tox2	G	A	2: 163,164,926 (GRCm39)	R522H	possibly damaging	Het
Trip12	A	T	1: 84,743,791 (GRCm39)	N505K	probably damaging	Het
Tuba1c	G	A	15: 98,935,870 (GRCm39)	D444N	unknown	Het
Vmn1r174	A	G	7: 23,454,252 (GRCm39)	E306G	unknown	Het
Vmn2r111	A	T	17: 22,789,754 (GRCm39)	F417L	probably benign	Het
Vmn2r15	A	T	5: 109,441,240 (GRCm39)	M206K	probably damaging	Het
Vmn2r95	G	T	17: 18,672,038 (GRCm39)	A592S	probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	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
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
R4707:Mmrn1	UTSW	6	60,965,457 (GRCm39)	missense	probably benign	0.12
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

Posted On

2015-04-16