Incidental Mutation 'R0145:Mmrn1'
ID 29617
Institutional Source Beutler Lab
Gene Symbol Mmrn1
Ensembl Gene ENSMUSG00000054641
Gene Name multimerin 1
Synonyms Emilin4, 4921530G03Rik
MMRRC Submission 038430-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0145 (G1) of strain 722
Quality Score 104
Status Validated (trace)
Chromosome 6
Chromosomal Location 60921301-60966362 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 60949994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 315 (Q315K)
Ref Sequence ENSEMBL: ENSMUSP00000145156 (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: Q315K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: Q315K

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: Q315K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: Q315K

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
Meta Mutation Damage Score 0.1188 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 93.7%
  • 20x: 82.1%
Validation Efficiency 96% (109/113)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,437,783 (GRCm39) E64G probably damaging Het
Actr6 A T 10: 89,564,040 (GRCm39) Y77* probably null Het
Aldoart1 A T 4: 72,769,576 (GRCm39) S411T probably benign Het
Aqp1 C T 6: 55,323,672 (GRCm39) R234C probably damaging Het
Arsb G A 13: 93,998,795 (GRCm39) G368R possibly damaging Het
Asxl3 G A 18: 22,586,662 (GRCm39) A151T probably damaging Het
Bcas3 T C 11: 85,250,436 (GRCm39) probably benign Het
Bmpr2 AACACA AACA 1: 59,906,739 (GRCm39) probably null Het
Bst1 A G 5: 43,976,414 (GRCm39) Y49C probably damaging Het
Btrc T A 19: 45,411,612 (GRCm39) L12Q probably damaging Het
Cd248 T C 19: 5,119,051 (GRCm39) F300L possibly damaging Het
Cdk11b G T 4: 155,726,076 (GRCm39) probably benign Het
Cfap410 T C 10: 77,819,390 (GRCm39) S196P probably benign Het
Cfap44 A T 16: 44,288,735 (GRCm39) D1495V probably damaging Het
Chil3 T A 3: 106,067,794 (GRCm39) I124F probably damaging Het
Cnot2 A T 10: 116,353,273 (GRCm39) S63T possibly damaging Het
Cox8a G T 19: 7,192,783 (GRCm39) H61N probably benign Het
Cpne9 T C 6: 113,277,562 (GRCm39) V427A probably damaging Het
Ctsll3 C A 13: 60,946,409 (GRCm39) G301C probably damaging Het
Cubn T A 2: 13,311,243 (GRCm39) D3094V probably damaging Het
Cyba A T 8: 123,153,977 (GRCm39) M65K possibly damaging Het
Cyp4f39 T A 17: 32,705,934 (GRCm39) S342T possibly damaging Het
Daam2 T C 17: 49,787,806 (GRCm39) I436V probably benign Het
Daglb T C 5: 143,460,363 (GRCm39) probably benign Het
Dnah7b T G 1: 46,262,338 (GRCm39) L2067R probably damaging Het
Ep300 T C 15: 81,500,328 (GRCm39) probably null Het
Esm1 A G 13: 113,353,230 (GRCm39) N171D probably damaging Het
Fbxl2 T C 9: 113,814,393 (GRCm39) E266G probably damaging Het
Ficd G T 5: 113,876,880 (GRCm39) A352S probably damaging Het
H2-Q2 A G 17: 35,564,152 (GRCm39) D302G probably benign Het
Hacd3 A T 9: 64,911,524 (GRCm39) probably benign Het
Kbtbd6 T A 14: 79,690,464 (GRCm39) N386K probably benign Het
Lct T C 1: 128,255,632 (GRCm39) M137V probably benign Het
Lilrb4b T G 10: 51,360,614 (GRCm39) N176K probably benign Het
Macf1 T A 4: 123,281,190 (GRCm39) H4340L probably damaging Het
Mcidas A G 13: 113,130,906 (GRCm39) D77G probably damaging Het
Mon2 C A 10: 122,849,417 (GRCm39) L1294F possibly damaging Het
Muc5ac A G 7: 141,349,012 (GRCm39) T483A possibly damaging Het
Nacc1 T C 8: 85,401,504 (GRCm39) probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ngef A G 1: 87,468,370 (GRCm39) probably benign Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Ogfod3 A T 11: 121,085,896 (GRCm39) probably benign Het
Or6c8 A T 10: 128,915,232 (GRCm39) V200E probably damaging Het
Or8i2 A C 2: 86,852,134 (GRCm39) Y251* probably null Het
Parpbp T C 10: 87,928,871 (GRCm39) Y523C possibly damaging Het
Pik3cg C A 12: 32,254,321 (GRCm39) L555F probably benign Het
Pkp3 T G 7: 140,669,676 (GRCm39) probably null Het
Pole G T 5: 110,472,291 (GRCm39) R1518L probably damaging Het
Prkab1 T C 5: 116,156,144 (GRCm39) probably benign Het
Prrc2a T C 17: 35,374,796 (GRCm39) T1285A probably benign Het
Pus1 C A 5: 110,922,720 (GRCm39) V222L probably benign Het
Rab11fip1 A G 8: 27,633,352 (GRCm39) L1118P probably damaging Het
Ranbp2 T A 10: 58,315,868 (GRCm39) I2196N probably damaging Het
Rims3 T C 4: 120,744,223 (GRCm39) L151P probably damaging Het
Rnf130 A G 11: 49,962,046 (GRCm39) D164G possibly damaging Het
Rps6ka2 C A 17: 7,529,585 (GRCm39) L293I probably benign Het
Ruvbl1 A G 6: 88,461,441 (GRCm39) T269A possibly damaging Het
Sema4a A T 3: 88,358,729 (GRCm39) I10N probably damaging Het
Serpinb6e A T 13: 34,025,043 (GRCm39) S83T probably benign Het
Slc12a9 C A 5: 137,313,550 (GRCm39) W803L probably damaging Het
Slc3a2 A G 19: 8,685,437 (GRCm39) S188P probably damaging Het
Slc7a13 G A 4: 19,818,782 (GRCm39) probably benign Het
Spart A T 3: 55,035,092 (GRCm39) K493* probably null Het
Spata31e2 A G 1: 26,726,413 (GRCm39) M32T probably benign Het
Sun1 T C 5: 139,227,166 (GRCm39) V574A probably damaging Het
Supt6 A G 11: 78,099,062 (GRCm39) V1603A probably benign Het
Tgm5 A G 2: 120,908,062 (GRCm39) V38A possibly damaging Het
Tm6sf2 T C 8: 70,530,518 (GRCm39) probably benign Het
Tnfaip2 T A 12: 111,412,292 (GRCm39) V231E possibly damaging Het
Tube1 T A 10: 39,021,598 (GRCm39) M281K possibly damaging Het
Tubgcp3 A G 8: 12,707,561 (GRCm39) Y143H probably benign Het
Tyrp1 A G 4: 80,759,015 (GRCm39) Y296C probably damaging Het
Utp4 A G 8: 107,621,301 (GRCm39) N26S probably benign Het
Vgf T A 5: 137,060,336 (GRCm39) probably benign Het
Zfat T C 15: 68,058,948 (GRCm39) K196E possibly damaging Het
Zfp366 G T 13: 99,366,048 (GRCm39) S403I probably damaging Het
Zfp462 G A 4: 55,010,529 (GRCm39) G832R probably damaging Het
Zfp955a T A 17: 33,461,430 (GRCm39) Q234L probably damaging Het
Zup1 T C 10: 33,819,709 (GRCm39) T202A 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
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
Predicted Primers PCR Primer
(F):5'- AAGTTGCTTCATCGTTCATGTTGCC -3'
(R):5'- GCTCACCCTTTCTAACAACCCTGATAG -3'

Sequencing Primer
(F):5'- GTTGCCACTCACCTGTAACTTG -3'
(R):5'- GGGCTCATCCTAACTATGGC -3'
Posted On 2013-04-18