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)
|
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
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 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
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 |
0.1188 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |