Incidental Mutation 'R8071:Mmrn1'
| ID |
628908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmrn1
|
| Ensembl Gene |
ENSMUSG00000054641 |
| Gene Name |
multimerin 1 |
| Synonyms |
Emilin4, 4921530G03Rik |
| MMRRC Submission |
067506-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8071 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
60921301-60966362 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 60921508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: 99.7%
- 10x: 98.8%
- 20x: 95.5%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acads |
T |
C |
5: 115,251,226 (GRCm39) |
E86G |
probably benign |
Het |
| Agmo |
A |
G |
12: 37,448,728 (GRCm39) |
T217A |
probably damaging |
Het |
| Arhgap39 |
A |
G |
15: 76,621,702 (GRCm39) |
S300P |
probably benign |
Het |
| Casp12 |
T |
C |
9: 5,346,647 (GRCm39) |
L58P |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,389,902 (GRCm39) |
T24A |
probably benign |
Het |
| Ccndbp1 |
C |
A |
2: 120,845,046 (GRCm39) |
T321K |
unknown |
Het |
| Cd200r3 |
G |
A |
16: 44,774,503 (GRCm39) |
C172Y |
probably damaging |
Het |
| Chd2 |
T |
A |
7: 73,187,132 (GRCm39) |
H9L |
probably benign |
Het |
| Cracdl |
C |
A |
1: 37,663,010 (GRCm39) |
E963* |
probably null |
Het |
| Cramp1 |
T |
A |
17: 25,201,674 (GRCm39) |
S603C |
probably damaging |
Het |
| Crtac1 |
C |
T |
19: 42,286,239 (GRCm39) |
R448H |
probably damaging |
Het |
| Csmd2 |
A |
T |
4: 128,287,331 (GRCm39) |
Y1022F |
|
Het |
| Ctns |
T |
C |
11: 73,075,760 (GRCm39) |
Y363C |
probably damaging |
Het |
| D630044L22Rik |
A |
G |
17: 26,179,118 (GRCm39) |
T15A |
possibly damaging |
Het |
| Dhx38 |
A |
C |
8: 110,285,333 (GRCm39) |
I444M |
probably benign |
Het |
| Dnah14 |
A |
T |
1: 181,443,459 (GRCm39) |
I450F |
possibly damaging |
Het |
| Dpf1 |
T |
C |
7: 29,013,566 (GRCm39) |
F245L |
probably benign |
Het |
| Efr3b |
A |
G |
12: 4,032,898 (GRCm39) |
V269A |
probably benign |
Het |
| Eprs1 |
G |
T |
1: 185,126,653 (GRCm39) |
V530L |
possibly damaging |
Het |
| Eps8l2 |
A |
G |
7: 140,922,860 (GRCm39) |
N41S |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,435,470 (GRCm39) |
I142M |
probably damaging |
Het |
| Fhip1a |
T |
C |
3: 85,637,868 (GRCm39) |
M144V |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,457,445 (GRCm39) |
D2381V |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,991,362 (GRCm39) |
D778V |
unknown |
Het |
| Galnt3 |
A |
G |
2: 65,921,555 (GRCm39) |
I492T |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,374,155 (GRCm39) |
M1261T |
probably damaging |
Het |
| Haus8 |
A |
G |
8: 71,708,695 (GRCm39) |
F126S |
probably benign |
Het |
| Hif3a |
A |
G |
7: 16,782,686 (GRCm39) |
L293S |
probably damaging |
Het |
| Ino80c |
G |
A |
18: 24,239,707 (GRCm39) |
T200I |
unknown |
Het |
| Jag1 |
T |
A |
2: 136,943,717 (GRCm39) |
M160L |
probably benign |
Het |
| Kcnj12 |
C |
A |
11: 60,960,825 (GRCm39) |
H374Q |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,816,902 (GRCm39) |
I433M |
probably benign |
Het |
| Lyzl4 |
C |
T |
9: 121,407,160 (GRCm39) |
W123* |
probably null |
Het |
| Map2k4 |
A |
T |
11: 65,597,827 (GRCm39) |
C264S |
|
Het |
| Mug1 |
C |
T |
6: 121,850,631 (GRCm39) |
T709I |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,781,931 (GRCm39) |
W1706R |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,117,869 (GRCm39) |
E531G |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Pcdhb11 |
A |
C |
18: 37,555,422 (GRCm39) |
I251L |
probably benign |
Het |
| Per3 |
A |
G |
4: 151,113,270 (GRCm39) |
S353P |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,213,750 (GRCm39) |
E1738G |
probably null |
Het |
| Prr14l |
T |
C |
5: 32,988,508 (GRCm39) |
D329G |
probably benign |
Het |
| Ptpn23 |
G |
T |
9: 110,217,267 (GRCm39) |
P863Q |
probably damaging |
Het |
| Ptpn23 |
G |
T |
9: 110,217,268 (GRCm39) |
P863T |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,479,896 (GRCm39) |
K1125E |
possibly damaging |
Het |
| Rapgef2 |
T |
G |
3: 79,000,343 (GRCm39) |
T351P |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,840,617 (GRCm39) |
Y923C |
probably damaging |
Het |
| Rimbp3 |
T |
C |
16: 17,028,727 (GRCm39) |
V717A |
probably benign |
Het |
| Rims1 |
C |
T |
1: 22,358,760 (GRCm39) |
W182* |
probably null |
Het |
| Rnmt |
A |
G |
18: 68,440,723 (GRCm39) |
K129E |
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,450,108 (GRCm39) |
F93S |
probably damaging |
Het |
| Scamp5 |
T |
C |
9: 57,350,969 (GRCm39) |
Y231C |
probably damaging |
Het |
| Sfxn5 |
T |
A |
6: 85,244,921 (GRCm39) |
|
probably null |
Het |
| Skic2 |
A |
T |
17: 35,068,975 (GRCm39) |
V8D |
probably benign |
Het |
| Slc12a1 |
T |
C |
2: 125,028,234 (GRCm39) |
F510S |
probably damaging |
Het |
| Sowahb |
T |
C |
5: 93,190,922 (GRCm39) |
Y599C |
probably damaging |
Het |
| Speer4e1 |
T |
C |
5: 14,987,111 (GRCm39) |
N98S |
probably damaging |
Het |
| Stat3 |
T |
C |
11: 100,784,807 (GRCm39) |
N553S |
probably benign |
Het |
| Sult6b2 |
A |
T |
6: 142,735,868 (GRCm39) |
L242Q |
probably damaging |
Het |
| Tacc3 |
C |
T |
5: 33,821,169 (GRCm39) |
R98W |
possibly damaging |
Het |
| Tuba4a |
C |
T |
1: 75,193,595 (GRCm39) |
R112H |
|
Het |
| Ubr3 |
T |
A |
2: 69,819,220 (GRCm39) |
S1337T |
probably damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,713 (GRCm39) |
C808* |
probably null |
Het |
| Wnt16 |
G |
A |
6: 22,288,997 (GRCm39) |
A105T |
probably benign |
Het |
| Zfp692 |
C |
T |
11: 58,198,560 (GRCm39) |
S50L |
probably damaging |
Het |
|
| Other mutations in Mmrn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- ATCCTAGGAGGGTCACAGATCG -3'
(R):5'- GAAGATCTCTCAGCAGCTGC -3'
Sequencing Primer
(F):5'- GGGTCACAGATCGCAGAG -3'
(R):5'- GGAGGCTCAGTATTTCACTTACAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation