Incidental Mutation 'R0400:Mmrn1'
ID |
38123 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmrn1
|
Ensembl Gene |
ENSMUSG00000054641 |
Gene Name |
multimerin 1 |
Synonyms |
Emilin4, 4921530G03Rik |
MMRRC Submission |
038605-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0400 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
60921301-60966362 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 60954099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 793
(K793N)
|
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: K793N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000119609 Gene: ENSMUSG00000054641 AA Change: K793N
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
AA Change: K793N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000145156 Gene: ENSMUSG00000054641 AA Change: K793N
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
Validation Efficiency |
97% (76/78) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
T |
A |
11: 30,376,360 (GRCm39) |
H169L |
probably benign |
Het |
9130230L23Rik |
T |
C |
5: 66,147,699 (GRCm39) |
D28G |
unknown |
Het |
Abca12 |
T |
A |
1: 71,298,935 (GRCm39) |
|
probably benign |
Het |
Acsl5 |
T |
C |
19: 55,282,143 (GRCm39) |
V573A |
probably damaging |
Het |
Agap1 |
A |
G |
1: 89,770,972 (GRCm39) |
|
probably benign |
Het |
Arid2 |
A |
G |
15: 96,254,806 (GRCm39) |
|
probably benign |
Het |
B430305J03Rik |
T |
A |
3: 61,271,556 (GRCm39) |
|
probably benign |
Het |
Brsk2 |
T |
C |
7: 141,552,290 (GRCm39) |
L584P |
probably damaging |
Het |
C2cd4c |
A |
G |
10: 79,449,043 (GRCm39) |
Y35H |
probably damaging |
Het |
Cacul1 |
A |
G |
19: 60,551,591 (GRCm39) |
|
probably benign |
Het |
Cers3 |
T |
C |
7: 66,414,078 (GRCm39) |
V88A |
probably benign |
Het |
Cnnm1 |
A |
T |
19: 43,456,803 (GRCm39) |
H614L |
probably damaging |
Het |
Col1a1 |
T |
A |
11: 94,832,195 (GRCm39) |
|
probably benign |
Het |
Cyp1b1 |
T |
A |
17: 80,021,016 (GRCm39) |
D242V |
probably damaging |
Het |
Cyp4a31 |
T |
C |
4: 115,420,915 (GRCm39) |
M1T |
probably null |
Het |
Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
Dclk2 |
A |
T |
3: 86,721,054 (GRCm39) |
|
probably null |
Het |
Dnah17 |
A |
G |
11: 117,972,904 (GRCm39) |
S2010P |
probably damaging |
Het |
Dram2 |
T |
C |
3: 106,480,934 (GRCm39) |
L246P |
probably damaging |
Het |
Dus2 |
A |
T |
8: 106,775,309 (GRCm39) |
T279S |
probably benign |
Het |
Epn2 |
T |
C |
11: 61,423,522 (GRCm39) |
|
probably null |
Het |
Esco2 |
C |
A |
14: 66,069,155 (GRCm39) |
V52F |
possibly damaging |
Het |
Fbp1 |
T |
A |
13: 63,012,882 (GRCm39) |
T104S |
probably benign |
Het |
Foxj2 |
A |
T |
6: 122,810,767 (GRCm39) |
Q249L |
possibly damaging |
Het |
Galnt7 |
T |
C |
8: 58,037,023 (GRCm39) |
Y122C |
probably damaging |
Het |
Gimd1 |
T |
C |
3: 132,340,588 (GRCm39) |
Y35H |
probably benign |
Het |
Gipc2 |
A |
G |
3: 151,871,305 (GRCm39) |
F74L |
probably damaging |
Het |
Glt1d1 |
T |
A |
5: 127,734,139 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,290,141 (GRCm39) |
T2325A |
probably damaging |
Het |
Iffo1 |
A |
G |
6: 125,130,434 (GRCm39) |
K471R |
probably damaging |
Het |
Ireb2 |
G |
A |
9: 54,803,782 (GRCm39) |
R491H |
probably benign |
Het |
Isg20 |
A |
G |
7: 78,566,473 (GRCm39) |
N141D |
possibly damaging |
Het |
Kmt5c |
G |
A |
7: 4,749,243 (GRCm39) |
R100H |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,640,926 (GRCm39) |
D3506G |
probably benign |
Het |
Lrrn4 |
A |
C |
2: 132,719,940 (GRCm39) |
F287V |
probably benign |
Het |
Maco1 |
T |
C |
4: 134,555,427 (GRCm39) |
K349E |
probably benign |
Het |
Muc16 |
A |
G |
9: 18,421,830 (GRCm39) |
V8227A |
possibly damaging |
Het |
Myh2 |
C |
T |
11: 67,083,424 (GRCm39) |
|
probably benign |
Het |
Nalcn |
T |
A |
14: 123,528,372 (GRCm39) |
|
probably benign |
Het |
Nfia |
T |
C |
4: 97,951,373 (GRCm39) |
V400A |
probably damaging |
Het |
Nxph4 |
T |
A |
10: 127,362,127 (GRCm39) |
T255S |
possibly damaging |
Het |
Olfm5 |
G |
A |
7: 103,803,386 (GRCm39) |
T359I |
probably damaging |
Het |
Or1e33 |
T |
C |
11: 73,738,867 (GRCm39) |
Y28C |
probably benign |
Het |
Or5t18 |
A |
G |
2: 86,636,995 (GRCm39) |
M116T |
probably damaging |
Het |
Or8b44 |
A |
G |
9: 38,410,207 (GRCm39) |
M81V |
possibly damaging |
Het |
Or8g21 |
G |
T |
9: 38,906,494 (GRCm39) |
P79Q |
probably damaging |
Het |
Pak5 |
T |
C |
2: 135,939,499 (GRCm39) |
I545M |
possibly damaging |
Het |
Pcdhb15 |
T |
C |
18: 37,608,948 (GRCm39) |
F727L |
probably benign |
Het |
Pds5b |
T |
A |
5: 150,646,818 (GRCm39) |
N202K |
possibly damaging |
Het |
Phlpp1 |
T |
A |
1: 106,320,664 (GRCm39) |
I1553N |
probably benign |
Het |
Pink1 |
T |
C |
4: 138,045,229 (GRCm39) |
T282A |
probably damaging |
Het |
Prdm2 |
A |
G |
4: 142,838,240 (GRCm39) |
F1706S |
probably benign |
Het |
Pycr1 |
G |
A |
11: 120,532,352 (GRCm39) |
|
probably benign |
Het |
Rigi |
A |
G |
4: 40,235,257 (GRCm39) |
Y78H |
probably benign |
Het |
Skint9 |
A |
G |
4: 112,271,198 (GRCm39) |
S71P |
probably damaging |
Het |
Smad1 |
A |
G |
8: 80,098,399 (GRCm39) |
|
probably benign |
Het |
Snapc5 |
A |
T |
9: 64,087,789 (GRCm39) |
E33D |
probably damaging |
Het |
Snrnp40 |
T |
C |
4: 130,256,443 (GRCm39) |
L56P |
probably damaging |
Het |
Stab2 |
A |
C |
10: 86,708,474 (GRCm39) |
I1697S |
probably damaging |
Het |
Tfap2a |
G |
T |
13: 40,870,888 (GRCm39) |
|
probably benign |
Het |
Tph2 |
A |
G |
10: 114,916,025 (GRCm39) |
|
probably benign |
Het |
Triml1 |
A |
G |
8: 43,594,077 (GRCm39) |
V118A |
probably benign |
Het |
Ttbk2 |
T |
A |
2: 120,580,723 (GRCm39) |
T538S |
probably benign |
Het |
Ttn |
A |
G |
2: 76,545,616 (GRCm39) |
V32569A |
possibly damaging |
Het |
U2af1 |
T |
A |
17: 31,867,166 (GRCm39) |
Y158F |
probably benign |
Het |
Usp7 |
A |
T |
16: 8,534,496 (GRCm39) |
|
probably benign |
Het |
Vdr |
A |
G |
15: 97,767,232 (GRCm39) |
S179P |
probably benign |
Het |
Vps13d |
A |
C |
4: 144,792,397 (GRCm39) |
S663A |
probably benign |
Het |
Wdr62 |
T |
A |
7: 29,940,887 (GRCm39) |
T844S |
possibly damaging |
Het |
Wipi1 |
C |
T |
11: 109,467,956 (GRCm39) |
R407Q |
probably damaging |
Het |
Zbtb43 |
A |
G |
2: 33,343,909 (GRCm39) |
C439R |
probably damaging |
Het |
Zfp507 |
T |
A |
7: 35,491,171 (GRCm39) |
H704L |
probably damaging |
Het |
Zzef1 |
G |
A |
11: 72,786,068 (GRCm39) |
R2080K |
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 |
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'- AAGCCTTTGAGAGACGCATCAGTG -3'
(R):5'- TGGATGGACTTTGCTTCCAGTGCC -3'
Sequencing Primer
(F):5'- CAATGCCATCGATTTTGTTCAAG -3'
(R):5'- TCTCATTTGATAGGATGCCACC -3'
|
Posted On |
2013-05-23 |