Incidental Mutation 'R7213:Mmrn1'
ID |
561203 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmrn1
|
Ensembl Gene |
ENSMUSG00000054641 |
Gene Name |
multimerin 1 |
Synonyms |
Emilin4, 4921530G03Rik |
MMRRC Submission |
045341-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7213 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
60921301-60966362 bp(+) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
G to A
at 60921527 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (80/81) |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
G |
T |
9: 124,056,530 (GRCm39) |
Y131* |
probably null |
Het |
2310009B15Rik |
A |
T |
1: 138,781,367 (GRCm39) |
V94D |
probably damaging |
Het |
Actr1b |
T |
A |
1: 36,741,221 (GRCm39) |
N120I |
probably damaging |
Het |
Adam17 |
A |
T |
12: 21,386,679 (GRCm39) |
Y452* |
probably null |
Het |
Adam19 |
A |
T |
11: 46,012,298 (GRCm39) |
T265S |
probably benign |
Het |
Adgrb1 |
A |
G |
15: 74,441,733 (GRCm39) |
T945A |
probably benign |
Het |
Bpifa5 |
G |
A |
2: 154,007,903 (GRCm39) |
V182M |
possibly damaging |
Het |
Celsr3 |
C |
T |
9: 108,726,239 (GRCm39) |
T3156I |
probably damaging |
Het |
Cntrl |
A |
G |
2: 35,025,692 (GRCm39) |
M674V |
possibly damaging |
Het |
Cry2 |
C |
T |
2: 92,244,004 (GRCm39) |
V390I |
probably benign |
Het |
Cspg4b |
T |
A |
13: 113,454,475 (GRCm39) |
F174I |
|
Het |
Cwc25 |
G |
T |
11: 97,644,855 (GRCm39) |
Q168K |
probably benign |
Het |
Dcbld2 |
C |
T |
16: 58,271,126 (GRCm39) |
A301V |
probably benign |
Het |
Dclre1a |
T |
C |
19: 56,518,067 (GRCm39) |
Y1004C |
probably damaging |
Het |
Ddhd1 |
A |
C |
14: 45,895,210 (GRCm39) |
S87A |
probably benign |
Het |
Ear1 |
A |
G |
14: 44,056,611 (GRCm39) |
C86R |
probably damaging |
Het |
Epha5 |
T |
C |
5: 84,381,782 (GRCm39) |
|
probably null |
Het |
Fat2 |
A |
T |
11: 55,171,871 (GRCm39) |
Y2947* |
probably null |
Het |
Fat4 |
G |
A |
3: 39,053,236 (GRCm39) |
V4077M |
possibly damaging |
Het |
Fbxl12 |
A |
T |
9: 20,550,304 (GRCm39) |
V140E |
probably damaging |
Het |
Fbxo16 |
A |
G |
14: 65,536,868 (GRCm39) |
|
probably null |
Het |
Fto |
A |
T |
8: 92,118,135 (GRCm39) |
Q29L |
probably benign |
Het |
Gk5 |
C |
T |
9: 96,027,765 (GRCm39) |
T200M |
probably damaging |
Het |
Gm5916 |
C |
T |
9: 36,039,946 (GRCm39) |
G14E |
possibly damaging |
Het |
Gm9972 |
A |
T |
11: 42,927,235 (GRCm39) |
|
probably benign |
Het |
Gpr139 |
T |
A |
7: 118,744,322 (GRCm39) |
M88L |
probably benign |
Het |
Gpr26 |
T |
C |
7: 131,569,219 (GRCm39) |
L188P |
probably damaging |
Het |
H2ac4 |
G |
T |
13: 23,935,146 (GRCm39) |
A11S |
unknown |
Het |
Hbp1 |
A |
T |
12: 31,987,196 (GRCm39) |
S219T |
probably benign |
Het |
Hr |
A |
T |
14: 70,795,790 (GRCm39) |
E445V |
probably damaging |
Het |
Il12rb1 |
A |
G |
8: 71,269,097 (GRCm39) |
K426E |
probably benign |
Het |
Itgbl1 |
G |
A |
14: 124,210,709 (GRCm39) |
C469Y |
probably damaging |
Het |
Kdm2b |
A |
T |
5: 123,059,532 (GRCm39) |
N523K |
probably damaging |
Het |
Kptn |
A |
G |
7: 15,854,704 (GRCm39) |
N125S |
possibly damaging |
Het |
Krt17 |
T |
C |
11: 100,149,356 (GRCm39) |
N238S |
probably benign |
Het |
Lemd3 |
G |
A |
10: 120,814,145 (GRCm39) |
R363* |
probably null |
Het |
Mtus1 |
T |
C |
8: 41,537,524 (GRCm39) |
D64G |
probably damaging |
Het |
Muc16 |
A |
G |
9: 18,552,712 (GRCm39) |
V4527A |
probably benign |
Het |
Naip2 |
T |
A |
13: 100,323,991 (GRCm39) |
D193V |
probably damaging |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,360,645 (GRCm39) |
H1462R |
probably benign |
Het |
Or2n1b |
T |
C |
17: 38,459,965 (GRCm39) |
V162A |
probably benign |
Het |
Or5ak20 |
A |
T |
2: 85,183,900 (GRCm39) |
Y123* |
probably null |
Het |
Pappa2 |
T |
A |
1: 158,764,456 (GRCm39) |
T352S |
possibly damaging |
Het |
Pcnt |
A |
G |
10: 76,244,738 (GRCm39) |
L1114P |
probably damaging |
Het |
Pde6b |
T |
C |
5: 108,551,956 (GRCm39) |
Y212H |
probably damaging |
Het |
Pik3c2g |
A |
T |
6: 139,805,990 (GRCm39) |
I604F |
|
Het |
Pld2 |
A |
G |
11: 70,444,198 (GRCm39) |
D498G |
probably benign |
Het |
Prag1 |
A |
T |
8: 36,613,769 (GRCm39) |
Q1107L |
probably damaging |
Het |
Pwp1 |
A |
T |
10: 85,712,173 (GRCm39) |
I110F |
probably benign |
Het |
Rims4 |
C |
T |
2: 163,705,981 (GRCm39) |
V218I |
probably benign |
Het |
Rnf10 |
C |
T |
5: 115,380,532 (GRCm39) |
S754N |
probably damaging |
Het |
Rnf10 |
T |
C |
5: 115,380,533 (GRCm39) |
S754G |
probably damaging |
Het |
Sel1l2 |
A |
T |
2: 140,086,055 (GRCm39) |
V512E |
probably damaging |
Het |
Shank2 |
T |
A |
7: 143,585,146 (GRCm39) |
M49K |
probably benign |
Het |
Sipa1 |
T |
C |
19: 5,710,551 (GRCm39) |
D153G |
probably damaging |
Het |
Slc46a2 |
C |
T |
4: 59,914,279 (GRCm39) |
V215I |
possibly damaging |
Het |
Slco6c1 |
G |
A |
1: 97,055,671 (GRCm39) |
L77F |
probably benign |
Het |
Smarca2 |
T |
C |
19: 26,624,531 (GRCm39) |
L397P |
possibly damaging |
Het |
Spg7 |
C |
T |
8: 123,816,971 (GRCm39) |
A554V |
probably damaging |
Het |
Stab1 |
T |
A |
14: 30,865,630 (GRCm39) |
M1753L |
probably benign |
Het |
Stk11 |
A |
G |
10: 79,952,452 (GRCm39) |
M1V |
probably null |
Het |
Supt6 |
C |
A |
11: 78,122,976 (GRCm39) |
G136C |
probably damaging |
Het |
Svil |
G |
T |
18: 5,094,574 (GRCm39) |
R1418L |
probably damaging |
Het |
Tfg |
A |
G |
16: 56,521,516 (GRCm39) |
S167P |
probably benign |
Het |
Timeless |
T |
C |
10: 128,079,158 (GRCm39) |
V335A |
probably benign |
Het |
Tll2 |
C |
A |
19: 41,108,666 (GRCm39) |
R328L |
probably damaging |
Het |
Tomm7 |
T |
C |
5: 24,049,059 (GRCm39) |
S5G |
possibly damaging |
Het |
Ttc39c |
G |
A |
18: 12,820,138 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,556,105 (GRCm39) |
E30300G |
probably benign |
Het |
Tuba4a |
A |
T |
1: 75,192,341 (GRCm39) |
D452E |
possibly damaging |
Het |
Tubgcp2 |
T |
C |
7: 139,587,927 (GRCm39) |
I233V |
probably benign |
Het |
Tubgcp5 |
T |
A |
7: 55,455,860 (GRCm39) |
V296E |
probably damaging |
Het |
Vmn2r53 |
T |
C |
7: 12,334,983 (GRCm39) |
S226G |
probably benign |
Het |
Xrcc6 |
T |
C |
15: 81,901,027 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
C |
A |
3: 5,461,704 (GRCm39) |
D1192E |
probably benign |
Het |
Zfp180 |
G |
T |
7: 23,803,938 (GRCm39) |
W119L |
possibly damaging |
Het |
Zfp3 |
A |
G |
11: 70,663,351 (GRCm39) |
I437V |
probably benign |
Het |
Zfp616 |
A |
T |
11: 73,976,689 (GRCm39) |
Q986L |
probably benign |
Het |
Zfp937 |
T |
A |
2: 150,081,385 (GRCm39) |
C472S |
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 |
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'- ATCCTAGGAGGGTCACAGATCG -3'
(R):5'- AGATCTCTCAGCAGCTGCAG -3'
Sequencing Primer
(F):5'- GGGTCACAGATCGCAGAG -3'
(R):5'- AGAGCACTTGGAGGCTCAGTATTTC -3'
|
Posted On |
2019-06-26 |