Incidental Mutation 'IGL00917:Mmrn1'
ID27613
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmrn1
Ensembl Gene ENSMUSG00000054641
Gene Namemultimerin 1
Synonyms4921530G03Rik, Emilin4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00917
Quality Score
Status
Chromosome6
Chromosomal Location60924976-60989378 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 60975910 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 392 (Q392*)
Ref Sequence ENSEMBL: ENSMUSP00000145156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000129603] [ENSMUST00000204333]
Predicted Effect probably null
Transcript: ENSMUST00000129603
AA Change: Q392*
SMART Domains Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: Q392*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000204333
AA Change: Q392*
SMART Domains Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: Q392*

DomainStartEndE-ValueType
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029I15Rik T A 2: 92,383,218 S39T probably benign Het
Abcc5 A T 16: 20,422,357 V26E probably benign Het
Adcy4 T A 14: 55,773,663 probably null Het
Adgrl3 C T 5: 81,693,574 T766I possibly damaging Het
Atad2b A T 12: 4,965,837 probably benign Het
Atp8b4 A T 2: 126,374,533 S664R probably benign Het
Cand1 A C 10: 119,210,936 I883S possibly damaging Het
Cfap53 A G 18: 74,299,296 D85G probably benign Het
Chd4 G A 6: 125,104,946 R514Q possibly damaging Het
Cnst T C 1: 179,624,992 probably benign Het
Col6a6 T C 9: 105,784,254 probably benign Het
Cux2 A C 5: 121,869,105 L831R probably null Het
Elf2 T A 3: 51,308,046 probably benign Het
Glp1r A G 17: 30,919,469 probably benign Het
Hus1b A G 13: 30,947,544 M44T probably benign Het
Mbd6 A G 10: 127,284,119 probably benign Het
Med31 T A 11: 72,212,079 probably null Het
Mrpl3 T G 9: 105,057,041 V121G probably damaging Het
Olfr1349 A G 7: 6,514,578 S284P probably damaging Het
Olfr310 A T 7: 86,269,441 M116K probably damaging Het
Palld A G 8: 61,515,935 V879A possibly damaging Het
Pkn2 G T 3: 142,853,625 D46E probably damaging Het
Prkdc T A 16: 15,739,564 C2244S probably damaging Het
Prss50 T A 9: 110,862,406 H259Q possibly damaging Het
Rab8b C T 9: 66,854,687 W102* probably null Het
Rad54l2 A T 9: 106,710,439 L709Q possibly damaging Het
Rapgef1 T C 2: 29,702,523 V471A probably benign Het
Rbms3 A G 9: 117,110,115 S27P probably damaging Het
Rpl35a A G 16: 33,058,731 K73E possibly damaging Het
Sugct A T 13: 16,857,918 Y416* probably null Het
Top2b A G 14: 16,407,354 I713V probably benign Het
Unc79 A T 12: 103,088,507 R777S possibly damaging Het
Vps37a T A 8: 40,540,738 M258K probably benign Het
Zfp944 G A 17: 22,339,784 L161F probably benign Het
Other mutations in Mmrn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00640:Mmrn1 APN 6 60977513 missense probably benign
IGL00742:Mmrn1 APN 6 60958120 missense probably damaging 1.00
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
X0026:Mmrn1 UTSW 6 60976013 missense probably benign 0.09
Posted On2013-04-17