Incidental Mutation 'R6996:Mmrn1'
ID |
544197 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmrn1
|
Ensembl Gene |
ENSMUSG00000054641 |
Gene Name |
multimerin 1 |
Synonyms |
Emilin4, 4921530G03Rik |
MMRRC Submission |
045102-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6996 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
60921301-60966362 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 60954367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 883
(T883A)
|
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: T883A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000119609 Gene: ENSMUSG00000054641 AA Change: T883A
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: T883A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000145156 Gene: ENSMUSG00000054641 AA Change: T883A
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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
G |
A |
8: 25,296,517 (GRCm39) |
S310L |
probably damaging |
Het |
Adamts16 |
C |
T |
13: 70,946,157 (GRCm39) |
|
probably null |
Het |
Arrb1 |
C |
A |
7: 99,240,569 (GRCm39) |
D194E |
probably benign |
Het |
Atp1a3 |
T |
C |
7: 24,697,051 (GRCm39) |
D217G |
probably damaging |
Het |
Bcar3 |
A |
G |
3: 122,302,033 (GRCm39) |
I123V |
possibly damaging |
Het |
Bdp1 |
G |
A |
13: 100,180,321 (GRCm39) |
L1833F |
probably damaging |
Het |
Cdc14a |
T |
C |
3: 116,122,355 (GRCm39) |
Y155C |
probably damaging |
Het |
Cdo1 |
C |
A |
18: 46,853,380 (GRCm39) |
R126M |
possibly damaging |
Het |
Cfap99 |
G |
T |
5: 34,484,604 (GRCm39) |
R627L |
probably damaging |
Het |
Efr3a |
T |
A |
15: 65,720,030 (GRCm39) |
L369* |
probably null |
Het |
Erich6 |
A |
C |
3: 58,543,516 (GRCm39) |
F185V |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,853,374 (GRCm39) |
D122G |
unknown |
Het |
Fank1 |
A |
G |
7: 133,478,627 (GRCm39) |
I230M |
possibly damaging |
Het |
Flg2 |
A |
T |
3: 93,109,977 (GRCm39) |
E668D |
unknown |
Het |
Flg2 |
A |
C |
3: 93,110,256 (GRCm39) |
R761S |
unknown |
Het |
Gabrr1 |
T |
C |
4: 33,158,157 (GRCm39) |
L260P |
probably damaging |
Het |
Gfm2 |
G |
A |
13: 97,285,868 (GRCm39) |
R119K |
probably damaging |
Het |
Gm14226 |
A |
G |
2: 154,866,357 (GRCm39) |
T105A |
probably benign |
Het |
Gm14496 |
A |
G |
2: 181,637,997 (GRCm39) |
N357S |
probably damaging |
Het |
Gm5916 |
G |
A |
9: 36,039,935 (GRCm39) |
L18F |
probably benign |
Het |
Golm1 |
A |
T |
13: 59,790,058 (GRCm39) |
N247K |
probably benign |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Greb1 |
C |
T |
12: 16,773,355 (GRCm39) |
A240T |
probably benign |
Het |
Gtf3c6 |
T |
C |
10: 40,125,774 (GRCm39) |
M148V |
probably benign |
Het |
Guca1a |
T |
C |
17: 47,706,102 (GRCm39) |
S126G |
probably benign |
Het |
Hacl1 |
A |
T |
14: 31,337,380 (GRCm39) |
I393N |
possibly damaging |
Het |
Hddc3 |
A |
G |
7: 79,993,498 (GRCm39) |
D68G |
possibly damaging |
Het |
Hsfy2 |
T |
C |
1: 56,675,569 (GRCm39) |
T323A |
possibly damaging |
Het |
Kcng2 |
T |
C |
18: 80,366,358 (GRCm39) |
|
probably benign |
Het |
Kdm2a |
G |
T |
19: 4,395,669 (GRCm39) |
P321T |
probably benign |
Het |
Krt31 |
A |
G |
11: 99,938,558 (GRCm39) |
V345A |
probably benign |
Het |
Lrrc37 |
A |
T |
11: 103,509,583 (GRCm39) |
L795* |
probably null |
Het |
Mettl1 |
T |
C |
10: 126,880,887 (GRCm39) |
S193P |
probably benign |
Het |
Mme |
G |
A |
3: 63,253,523 (GRCm39) |
D456N |
possibly damaging |
Het |
Mphosph10 |
C |
G |
7: 64,038,669 (GRCm39) |
E293Q |
probably benign |
Het |
Muc16 |
C |
A |
9: 18,557,193 (GRCm39) |
K3033N |
unknown |
Het |
Myo16 |
C |
T |
8: 10,619,496 (GRCm39) |
T1349M |
probably damaging |
Het |
Myo5c |
T |
C |
9: 75,157,746 (GRCm39) |
I233T |
probably benign |
Het |
Or4p4b-ps1 |
A |
G |
2: 88,454,189 (GRCm39) |
T181A |
unknown |
Het |
Or52a33 |
T |
G |
7: 103,289,065 (GRCm39) |
N94T |
probably benign |
Het |
Or52ac1 |
A |
T |
7: 104,246,018 (GRCm39) |
F123L |
probably benign |
Het |
Or5b111 |
A |
T |
19: 13,291,036 (GRCm39) |
S204R |
probably benign |
Het |
Or5h22 |
A |
G |
16: 58,894,555 (GRCm39) |
M296T |
probably benign |
Het |
Or6c2 |
T |
A |
10: 129,362,732 (GRCm39) |
V212E |
probably damaging |
Het |
Or7c70 |
C |
A |
10: 78,683,351 (GRCm39) |
V133L |
probably benign |
Het |
Oxct2b |
A |
G |
4: 123,011,480 (GRCm39) |
I467V |
probably benign |
Het |
Parp1 |
A |
T |
1: 180,414,936 (GRCm39) |
N425Y |
possibly damaging |
Het |
Pcdhgc3 |
T |
A |
18: 37,939,656 (GRCm39) |
V19D |
possibly damaging |
Het |
Pfkl |
T |
A |
10: 77,833,423 (GRCm39) |
I260F |
probably damaging |
Het |
Pkd1l1 |
C |
T |
11: 8,799,046 (GRCm39) |
G1789R |
probably damaging |
Het |
Pla1a |
G |
A |
16: 38,217,830 (GRCm39) |
A386V |
probably benign |
Het |
Pml |
A |
G |
9: 58,142,169 (GRCm39) |
L221P |
probably damaging |
Het |
Rcn2 |
C |
T |
9: 55,964,845 (GRCm39) |
Q268* |
probably null |
Het |
Reps1 |
T |
A |
10: 17,969,603 (GRCm39) |
D235E |
probably damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
Sap30bp |
A |
G |
11: 115,824,314 (GRCm39) |
|
probably benign |
Het |
Scn1a |
A |
T |
2: 66,118,075 (GRCm39) |
S1433T |
probably damaging |
Het |
Sde2 |
T |
C |
1: 180,678,754 (GRCm39) |
V6A |
probably benign |
Het |
Sdk1 |
C |
A |
5: 142,197,769 (GRCm39) |
R2141S |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,379,640 (GRCm39) |
S1152P |
probably damaging |
Het |
Slc26a2 |
C |
T |
18: 61,334,926 (GRCm39) |
V176I |
probably damaging |
Het |
Snx7 |
A |
G |
3: 117,640,281 (GRCm39) |
I76T |
possibly damaging |
Het |
Specc1l |
C |
A |
10: 75,082,113 (GRCm39) |
A520D |
probably benign |
Het |
Spop |
A |
G |
11: 95,362,136 (GRCm39) |
T56A |
possibly damaging |
Het |
Syne2 |
T |
A |
12: 76,074,786 (GRCm39) |
D4576E |
probably damaging |
Het |
Tas2r134 |
A |
C |
2: 51,517,601 (GRCm39) |
M27L |
probably benign |
Het |
Tecta |
A |
C |
9: 42,278,082 (GRCm39) |
I1142S |
probably benign |
Het |
Timm44 |
T |
C |
8: 4,316,611 (GRCm39) |
D311G |
possibly damaging |
Het |
Tmem123 |
C |
G |
9: 7,791,071 (GRCm39) |
T124R |
possibly damaging |
Het |
Tmem184b |
A |
T |
15: 79,246,959 (GRCm39) |
L370Q |
probably benign |
Het |
Trim25 |
T |
A |
11: 88,890,329 (GRCm39) |
N5K |
probably benign |
Het |
Vmn2r93 |
A |
G |
17: 18,524,903 (GRCm39) |
Y187C |
probably damaging |
Het |
Vpreb1a |
A |
G |
16: 16,686,678 (GRCm39) |
Y71H |
probably damaging |
Het |
Vpreb1b |
T |
C |
16: 17,798,441 (GRCm39) |
S5P |
probably benign |
Het |
Xpo7 |
A |
T |
14: 70,906,888 (GRCm39) |
C939S |
probably benign |
Het |
Zfp78 |
C |
A |
7: 6,381,764 (GRCm39) |
S271R |
probably benign |
Het |
Zic5 |
A |
T |
14: 122,702,080 (GRCm39) |
M217K |
probably benign |
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 |
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'- TGAAACCACTTCCCAGGTG -3'
(R):5'- TTTCTGAGAACTCTGACTGCCTG -3'
Sequencing Primer
(F):5'- TTCCCAGGTGAACAAATGTCAG -3'
(R):5'- TGAAAGCTCACGGACAGT -3'
|
Posted On |
2019-05-13 |