Incidental Mutation 'R5887:Mmrn1'
ID 501617
Institutional Source Beutler Lab
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 # R5887 (G1)
Quality Score 177
Status Not validated
Chromosome 6
Chromosomal Location 60921301-60966362 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60964058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1020 (V1020A)
Ref Sequence ENSEMBL: ENSMUSP00000119609 (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: V1020A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: V1020A

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 benign
Transcript: ENSMUST00000204333
SMART Domains Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641

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
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.0%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik C T 6: 91,892,124 (GRCm39) Q129* probably null Het
Acad8 A T 9: 26,890,620 (GRCm39) probably null Het
AK157302 T C 13: 21,679,579 (GRCm39) I35T possibly damaging Het
Arfgef3 G T 10: 18,483,413 (GRCm39) S1437* probably null Het
Calcrl A T 2: 84,200,841 (GRCm39) W68R probably damaging Het
Cd200l1 T A 16: 45,238,279 (GRCm39) L178F probably damaging Het
Cd59a A G 2: 103,934,546 (GRCm39) R5G probably damaging Het
Chl1 C T 6: 103,694,565 (GRCm39) A1091V probably benign Het
Copg1 T C 6: 87,879,279 (GRCm39) F442L probably damaging Het
Creld1 T C 6: 113,469,860 (GRCm39) *421Q probably null Het
Crocc2 T A 1: 93,121,838 (GRCm39) H662Q possibly damaging Het
Csf2ra G A 19: 61,215,766 (GRCm39) A13V possibly damaging Het
Cul3 T C 1: 80,254,139 (GRCm39) T546A possibly damaging Het
Dnah8 C T 17: 31,013,691 (GRCm39) P3811S probably damaging Het
Dock6 T A 9: 21,731,690 (GRCm39) H1173L probably damaging Het
Dpysl4 T C 7: 138,676,192 (GRCm39) I328T possibly damaging Het
Dspp G A 5: 104,323,321 (GRCm39) G155R probably damaging Het
Fbxo33 A T 12: 59,251,545 (GRCm39) C57* probably null Het
Frrs1 T A 3: 116,690,399 (GRCm39) V14D probably benign Het
Gm13199 C T 2: 5,867,113 (GRCm39) G96S unknown Het
Gpr155 A T 2: 73,174,062 (GRCm39) C754* probably null Het
Gpr62 A T 9: 106,342,814 (GRCm39) V38E probably damaging Het
Kcnt2 C A 1: 140,353,104 (GRCm39) P271H probably damaging Het
Kpna3 C T 14: 61,640,461 (GRCm39) V34I probably benign Het
Lamb1 C T 12: 31,316,863 (GRCm39) Q71* probably null Het
Lipk T C 19: 34,016,507 (GRCm39) I245T possibly damaging Het
Lrp1b T G 2: 40,711,719 (GRCm39) N3281T possibly damaging Het
Lrp5 A C 19: 3,654,094 (GRCm39) I1111S probably benign Het
Or4c107 G A 2: 88,789,098 (GRCm39) C96Y possibly damaging Het
Or8b48 G A 9: 38,493,080 (GRCm39) C169Y probably damaging Het
Or8g34 T C 9: 39,372,787 (GRCm39) L17P probably damaging Het
Pcdha7 A T 18: 37,108,960 (GRCm39) T662S probably damaging Het
Pcdhga6 A G 18: 37,841,612 (GRCm39) D444G probably damaging Het
Pkd2 T G 5: 104,646,405 (GRCm39) D737E probably damaging Het
Plcd4 C T 1: 74,590,249 (GRCm39) R161W probably damaging Het
Prpf8 A G 11: 75,391,734 (GRCm39) Y1494C possibly damaging Het
Rad17 A C 13: 100,770,369 (GRCm39) probably null Het
Rbm17 A T 2: 11,590,485 (GRCm39) F390Y probably damaging Het
Rhod A T 19: 4,489,315 (GRCm39) L22Q probably damaging Het
Serpina1f T C 12: 103,656,046 (GRCm39) D394G possibly damaging Het
Serpina1f G A 12: 103,659,890 (GRCm39) Q131* probably null Het
Spocd1 A T 4: 129,842,752 (GRCm39) S56C probably damaging Het
St7l G A 3: 104,782,244 (GRCm39) R207H probably benign Het
Tasor T A 14: 27,188,254 (GRCm39) L900* probably null Het
Tbx18 T C 9: 87,595,566 (GRCm39) D336G possibly damaging Het
Tfg A T 16: 56,514,779 (GRCm39) Y135* probably null Het
Tjp2 A G 19: 24,073,963 (GRCm39) L1108P probably benign Het
Tmem150c C A 5: 100,243,524 (GRCm39) V8L probably benign Het
Ttn A T 2: 76,746,789 (GRCm39) H4753Q probably benign Het
Tyw1 T A 5: 130,354,540 (GRCm39) I589N probably damaging Het
Usp40 C T 1: 87,927,592 (GRCm39) R139Q probably damaging Het
Zgrf1 A G 3: 127,378,414 (GRCm39) Y174C probably damaging Het
Other mutations in Mmrn1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGTTTTGCATGAATACCCTCCC -3'
(R):5'- GTATGTCCAGCATGTGTTCGC -3'

Sequencing Primer
(F):5'- TGCATGAATACCCTCCCTAATGG -3'
(R):5'- ATGTGTTCGCGCGTGACAC -3'
Posted On 2017-12-01