Incidental Mutation 'R9612:Mmrn1'
ID 724301
Institutional Source Beutler Lab
Gene Symbol Mmrn1
Ensembl Gene ENSMUSG00000054641
Gene Name multimerin 1
Synonyms Emilin4, 4921530G03Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9612 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 60921301-60966362 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 60953408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 563 (I563N)
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: I563N

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: I563N

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 damaging
Transcript: ENSMUST00000204333
AA Change: I563N

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: I563N

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: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,276,327 (GRCm39) S677P possibly damaging Het
5730480H06Rik A G 5: 48,531,872 (GRCm39) I67V probably benign Het
Adam15 T A 3: 89,249,247 (GRCm39) Y736F probably damaging Het
Adam29 A T 8: 56,325,118 (GRCm39) F445L possibly damaging Het
Adgrv1 A G 13: 81,641,082 (GRCm39) Y3318H probably damaging Het
Akap6 A G 12: 52,958,690 (GRCm39) Y815C probably damaging Het
Ankar T A 1: 72,704,294 (GRCm39) D876V possibly damaging Het
Atp6v1g2 G A 17: 35,456,733 (GRCm39) V106I probably benign Het
Bdp1 A G 13: 100,214,370 (GRCm39) S490P probably benign Het
Bet1 A T 6: 4,077,918 (GRCm39) V107D probably damaging Het
Bri3bp T C 5: 125,531,390 (GRCm39) V112A probably damaging Het
Cage1 T A 13: 38,216,351 (GRCm39) D33V probably damaging Het
Ccdc146 G T 5: 21,535,577 (GRCm39) A159E probably damaging Het
Ccnl1 C A 3: 65,865,404 (GRCm39) G49V probably damaging Het
Cdk13 A C 13: 17,926,440 (GRCm39) F787V Het
Cdk5r1 T C 11: 80,368,480 (GRCm39) V49A probably benign Het
Cdon G A 9: 35,398,201 (GRCm39) V973I probably damaging Het
Cfap298 A T 16: 90,724,275 (GRCm39) M166K probably benign Het
Chd1l T A 3: 97,488,463 (GRCm39) K518* probably null Het
Col24a1 A G 3: 145,250,960 (GRCm39) D1653G probably benign Het
Cstf3 G T 2: 104,483,370 (GRCm39) V359F possibly damaging Het
Dchs2 T C 3: 83,178,193 (GRCm39) I1082T probably damaging Het
Dlec1 A T 9: 118,956,533 (GRCm39) I736F probably damaging Het
Dnah9 T C 11: 65,818,475 (GRCm39) N3288D probably benign Het
Dpcd G T 19: 45,560,422 (GRCm39) E82* probably null Het
Ehbp1 T C 11: 22,119,124 (GRCm39) D182G probably damaging Het
Eif1ad13 A G 12: 87,762,507 (GRCm39) I76V probably benign Het
Evc2 G T 5: 37,544,130 (GRCm39) E626D probably benign Het
Evi5 T C 5: 107,943,578 (GRCm39) E589G probably benign Het
Exoc4 T C 6: 33,226,161 (GRCm39) I25T probably benign Het
Extl2 T A 3: 115,821,145 (GRCm39) *331R probably null Het
Fkbp8 G A 8: 70,984,324 (GRCm39) R225H probably damaging Het
Foxred2 A T 15: 77,836,206 (GRCm39) S384T probably damaging Het
Garre1 A T 7: 33,947,656 (GRCm39) C451S probably damaging Het
Glmn T C 5: 107,741,731 (GRCm39) E18G probably damaging Het
Gm7489 A C 15: 53,749,369 (GRCm39) Q147P unknown Het
Gm7489 C A 15: 53,749,368 (GRCm39) Q147K unknown Het
Gm8005 T A 14: 42,260,355 (GRCm39) I94F Het
Golgb1 G A 16: 36,739,967 (GRCm39) V2810M probably benign Het
Gpr21 T C 2: 37,408,399 (GRCm39) L315P probably damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Herc6 T G 6: 57,629,017 (GRCm39) S643A probably benign Het
Igkv14-100 T A 6: 68,496,317 (GRCm39) I70N probably damaging Het
Kcnn3 A G 3: 89,516,703 (GRCm39) M371V probably benign Het
Kif1a T A 1: 92,953,416 (GRCm39) H1256L probably damaging Het
Klhdc4 A G 8: 122,527,917 (GRCm39) S266P possibly damaging Het
Kmt2d CTGTTG CTG 15: 98,743,057 (GRCm39) probably benign Het
Lefty2 T A 1: 180,722,286 (GRCm39) L208Q probably damaging Het
Lingo2 T C 4: 35,708,450 (GRCm39) Y510C probably damaging Het
Lrif1 T A 3: 106,639,200 (GRCm39) V70D probably damaging Het
Lrrc74a A T 12: 86,805,345 (GRCm39) K389I possibly damaging Het
Megf8 A T 7: 25,054,488 (GRCm39) E1868V probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mmp8 A G 9: 7,560,608 (GRCm39) D95G probably damaging Het
Mroh3 T C 1: 136,118,713 (GRCm39) T535A probably benign Het
Mroh9 A G 1: 162,866,498 (GRCm39) L715P probably damaging Het
Myh6 G T 14: 55,201,054 (GRCm39) A136E probably benign Het
Myom1 G T 17: 71,412,475 (GRCm39) E1231* probably null Het
Nod2 G T 8: 89,397,101 (GRCm39) C837F probably benign Het
Nos2 T A 11: 78,839,984 (GRCm39) W698R probably damaging Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Oas1a A T 5: 121,040,028 (GRCm39) S188T possibly damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Opa1 T C 16: 29,430,255 (GRCm39) M394T Het
Or1e1d-ps1 T A 11: 73,819,375 (GRCm39) D108E possibly damaging Het
Or5an6 A T 19: 12,371,983 (GRCm39) M119L probably damaging Het
Or5p66 A G 7: 107,885,487 (GRCm39) M282T probably benign Het
Or7g21 T A 9: 19,032,760 (GRCm39) S167T probably benign Het
Or7g29 A G 9: 19,286,677 (GRCm39) S167P possibly damaging Het
Oxct2a T A 4: 123,217,129 (GRCm39) D84V probably damaging Het
Oxct2b A C 4: 123,011,019 (GRCm39) D313A probably damaging Het
Phldb3 G A 7: 24,328,372 (GRCm39) V639M probably damaging Het
Plppr4 T A 3: 117,115,610 (GRCm39) N749I probably benign Het
Pmp22 G T 11: 63,024,065 (GRCm39) V25F probably benign Het
Pofut2 A T 10: 77,101,763 (GRCm39) M267L probably benign Het
Ppp1r42 T A 1: 10,039,067 (GRCm39) N351I possibly damaging Het
Prl2b1 T C 13: 27,572,479 (GRCm39) E37G probably benign Het
Ptpro G T 6: 137,391,318 (GRCm39) V813F probably benign Het
Rnaseh2c T C 19: 5,652,343 (GRCm39) F99L probably benign Het
Scn9a T A 2: 66,363,708 (GRCm39) I857F probably damaging Het
Slf1 A G 13: 77,197,204 (GRCm39) probably null Het
Smyd2 T C 1: 189,612,983 (GRCm39) *434W probably null Het
Spata31h1 T A 10: 82,125,453 (GRCm39) N2519I possibly damaging Het
Stk40 A G 4: 126,030,650 (GRCm39) D290G probably damaging Het
Tdo2 C A 3: 81,879,001 (GRCm39) W82C probably damaging Het
Tmem101 A G 11: 102,044,194 (GRCm39) V231A probably damaging Het
Tns2 G A 15: 102,015,577 (GRCm39) E160K probably damaging Het
Trim31 A T 17: 37,212,551 (GRCm39) D174V probably benign Het
Unc13d A T 11: 115,961,144 (GRCm39) Y404* probably null Het
Ush2a C A 1: 188,092,063 (GRCm39) Y531* probably null Het
Vapa G A 17: 65,889,736 (GRCm39) P144S probably benign Het
Vmn1r212 C T 13: 23,067,443 (GRCm39) V297M possibly damaging Het
Vmn2r80 A C 10: 79,030,712 (GRCm39) N846T probably damaging Het
Zfp811 A G 17: 33,017,740 (GRCm39) V100A probably benign Het
Zfp958 T A 8: 4,678,298 (GRCm39) C108S probably damaging Het
Zic5 G A 14: 122,697,100 (GRCm39) T505I unknown 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
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
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'- ACACACAGCTGTTATCAGTTCTAC -3'
(R):5'- GCAAAGGCTGAAGGATCTCC -3'

Sequencing Primer
(F):5'- TCAGTTCTACAAGTATCAGGAACAG -3'
(R):5'- AGGCTGAAGGATCTCCATGTC -3'
Posted On 2022-09-12