Incidental Mutation 'R3836:Mmrn1'
ID 275637
Institutional Source Beutler Lab
Gene Symbol Mmrn1
Ensembl Gene ENSMUSG00000054641
Gene Name multimerin 1
Synonyms Emilin4, 4921530G03Rik
MMRRC Submission 040891-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3836 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 60921301-60966362 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 60921831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 96 (S96N)
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: S96N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: S96N

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 noncoding transcript
Transcript: ENSMUST00000145763
Predicted Effect probably benign
Transcript: ENSMUST00000204333
AA Change: S96N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: S96N

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (61/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028I16Rik A G 10: 82,648,219 (GRCm39) noncoding transcript Het
Aasdh A G 5: 77,026,315 (GRCm39) V903A probably benign Het
Afg2a T A 3: 37,487,792 (GRCm39) Y428N possibly damaging Het
Ankrd6 T A 4: 32,817,531 (GRCm39) D271V probably damaging Het
Ano10 C T 9: 122,092,829 (GRCm39) V167M possibly damaging Het
Arhgef25 T C 10: 127,025,605 (GRCm39) T12A probably benign Het
AW551984 T C 9: 39,509,204 (GRCm39) probably benign Het
Bub1 G T 2: 127,656,806 (GRCm39) P442Q probably damaging Het
Clstn1 A G 4: 149,722,790 (GRCm39) E476G probably damaging Het
Comp A G 8: 70,826,509 (GRCm39) D28G probably benign Het
Crym A G 7: 119,800,439 (GRCm39) V61A probably benign Het
Dock4 G T 12: 40,844,623 (GRCm39) probably null Het
Dtna A T 18: 23,758,159 (GRCm39) Q488L probably damaging Het
Ecel1 A C 1: 87,078,378 (GRCm39) L565R probably damaging Het
Extl2 T C 3: 115,818,006 (GRCm39) I106T probably benign Het
Fam13c C T 10: 70,378,478 (GRCm39) S336L probably damaging Het
Fnbp4 A G 2: 90,577,129 (GRCm39) T154A probably damaging Het
Fsip2 T C 2: 82,781,290 (GRCm39) L32P probably damaging Het
Gldc T A 19: 30,096,075 (GRCm39) probably benign Het
Gm12695 T G 4: 96,650,334 (GRCm39) T171P probably damaging Het
Gm4868 A C 5: 125,925,014 (GRCm39) noncoding transcript Het
Gpam T C 19: 55,068,890 (GRCm39) N450S probably benign Het
Gstm5 T C 3: 107,803,678 (GRCm39) I37T probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Itga11 G T 9: 62,676,565 (GRCm39) V918L probably benign Het
Itgb2l T A 16: 96,227,367 (GRCm39) M559L probably benign Het
Itih1 T A 14: 30,657,785 (GRCm39) N429Y probably damaging Het
Madd A T 2: 90,984,988 (GRCm39) probably null Het
Map3k11 A G 19: 5,740,831 (GRCm39) E186G possibly damaging Het
Mbl2 T C 19: 30,216,914 (GRCm39) F242S probably damaging Het
Mcph1 A G 8: 18,672,675 (GRCm39) T102A possibly damaging Het
Mid1ip1 T C X: 10,584,620 (GRCm39) V51A possibly damaging Het
Mkln1 A G 6: 31,445,271 (GRCm39) D389G probably damaging Het
Myd88 A G 9: 119,167,259 (GRCm39) probably benign Het
Nap1l1 T A 10: 111,331,183 (GRCm39) probably null Het
Nprl3 C T 11: 32,183,082 (GRCm39) E502K probably damaging Het
Nudt5 T A 2: 5,871,158 (GRCm39) probably null Het
Or52b2 G A 7: 104,986,417 (GRCm39) P169S probably benign Het
Or5h23 A G 16: 58,906,586 (GRCm39) S87P possibly damaging Het
Or6c69b C T 10: 129,627,039 (GRCm39) V140M probably benign Het
Or8j3 A G 2: 86,029,006 (GRCm39) V30A probably benign Het
Plaa T C 4: 94,475,159 (GRCm39) probably null Het
Ptk2b A G 14: 66,393,791 (GRCm39) L894P probably damaging Het
Rab8b A G 9: 66,755,078 (GRCm39) S183P probably benign Het
Reln A G 5: 22,116,012 (GRCm39) Y2999H probably damaging Het
Rims4 A G 2: 163,760,573 (GRCm39) S11P possibly damaging Het
Scel A G 14: 103,829,822 (GRCm39) K448R possibly damaging Het
Serpinb10 A T 1: 107,463,816 (GRCm39) T33S probably benign Het
Sgip1 A G 4: 102,724,897 (GRCm39) probably null Het
Sv2b A T 7: 74,807,176 (GRCm39) M158K probably damaging Het
Tmem132d A T 5: 127,861,949 (GRCm39) I724N probably damaging Het
Tnrc6c A G 11: 117,614,055 (GRCm39) T738A probably benign Het
Tpbg T C 9: 85,725,167 (GRCm39) probably benign Het
Tubb2a G T 13: 34,259,294 (GRCm39) N165K probably benign Het
Ubtfl1 A T 9: 18,320,533 (GRCm39) E20D possibly damaging Het
Usp14 A G 18: 10,024,532 (GRCm39) probably null Het
Vmn2r25 C A 6: 123,830,044 (GRCm39) D36Y probably damaging Het
Wdhd1 A G 14: 47,482,511 (GRCm39) V946A probably benign Het
Wnk1 T C 6: 119,927,004 (GRCm39) E1265G probably damaging Het
Zmynd8 G A 2: 165,700,019 (GRCm39) T14I probably benign 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
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'- CAACATTCATGGACTGCGCC -3'
(R):5'- CAGCCGACTTAGTGGAGACTTC -3'

Sequencing Primer
(F):5'- ATTCATGGACTGCGCCTAAGG -3'
(R):5'- AGTGGAGACTTCTTGTTGATCAGAC -3'
Posted On 2015-04-06