Incidental Mutation 'R8879:Mmrn1'
ID |
676763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmrn1
|
Ensembl Gene |
ENSMUSG00000054641 |
Gene Name |
multimerin 1 |
Synonyms |
Emilin4, 4921530G03Rik |
MMRRC Submission |
068747-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8879 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
60921301-60966362 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 60953513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 598
(L598Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119609
(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: L598Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000119609 Gene: ENSMUSG00000054641 AA Change: L598Q
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: L598Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000145156 Gene: ENSMUSG00000054641 AA Change: L598Q
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 |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (69/69) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
C |
T |
15: 57,885,905 (GRCm39) |
V326M |
probably damaging |
Het |
Adap2 |
T |
A |
11: 80,047,785 (GRCm39) |
H80Q |
probably benign |
Het |
Ang4 |
T |
C |
14: 52,001,943 (GRCm39) |
T2A |
probably benign |
Het |
Arf2 |
T |
C |
11: 103,870,585 (GRCm39) |
|
probably null |
Het |
B3gnt4 |
A |
G |
5: 123,649,211 (GRCm39) |
D192G |
probably damaging |
Het |
BC034090 |
T |
C |
1: 155,102,103 (GRCm39) |
I54V |
probably benign |
Het |
Catsper3 |
A |
G |
13: 55,952,708 (GRCm39) |
T202A |
probably benign |
Het |
Cenpe |
T |
A |
3: 134,965,862 (GRCm39) |
D2113E |
probably damaging |
Het |
Clasp2 |
T |
C |
9: 113,602,773 (GRCm39) |
V191A |
probably benign |
Het |
Col5a1 |
G |
T |
2: 27,904,170 (GRCm39) |
A1356S |
unknown |
Het |
Cuzd1 |
A |
G |
7: 130,910,577 (GRCm39) |
S573P |
probably damaging |
Het |
Cyp1a2 |
C |
A |
9: 57,589,168 (GRCm39) |
M215I |
possibly damaging |
Het |
Dcaf17 |
T |
A |
2: 70,893,746 (GRCm39) |
I122K |
possibly damaging |
Het |
Dhcr24 |
A |
G |
4: 106,431,006 (GRCm39) |
I232V |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,895,181 (GRCm39) |
E3570G |
probably damaging |
Het |
Dnaja4 |
A |
T |
9: 54,621,988 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,581,781 (GRCm39) |
I41T |
probably benign |
Het |
Ehd1 |
A |
G |
19: 6,348,354 (GRCm39) |
D444G |
probably damaging |
Het |
Ehmt1 |
T |
A |
2: 24,726,488 (GRCm39) |
M766L |
possibly damaging |
Het |
Eno4 |
A |
G |
19: 58,959,154 (GRCm39) |
I613M |
probably benign |
Het |
Exoc3l |
A |
T |
8: 106,017,181 (GRCm39) |
M602K |
|
Het |
Fam107a |
C |
T |
14: 8,301,352 (GRCm38) |
|
probably null |
Het |
Frem3 |
A |
T |
8: 81,339,777 (GRCm39) |
D690V |
probably damaging |
Het |
Gm19410 |
A |
T |
8: 36,239,022 (GRCm39) |
D97V |
probably damaging |
Het |
Grik5 |
T |
A |
7: 24,722,489 (GRCm39) |
D540V |
possibly damaging |
Het |
Hint1 |
T |
A |
11: 54,760,769 (GRCm39) |
D69E |
probably benign |
Het |
Krt13 |
T |
C |
11: 100,010,211 (GRCm39) |
T257A |
probably benign |
Het |
Lpin2 |
T |
C |
17: 71,549,749 (GRCm39) |
L676P |
probably damaging |
Het |
Lrguk |
A |
G |
6: 34,006,618 (GRCm39) |
E76G |
probably benign |
Het |
Lrrc8a |
A |
G |
2: 30,146,310 (GRCm39) |
M375V |
probably benign |
Het |
Lrrtm3 |
T |
C |
10: 63,925,017 (GRCm39) |
Q50R |
possibly damaging |
Het |
Mrs2 |
A |
G |
13: 25,185,767 (GRCm39) |
I135T |
probably damaging |
Het |
Neb |
T |
C |
2: 52,125,592 (GRCm39) |
D475G |
|
Het |
Notch2 |
A |
G |
3: 98,042,915 (GRCm39) |
S1427G |
possibly damaging |
Het |
Odad4 |
G |
T |
11: 100,457,752 (GRCm39) |
E452* |
probably null |
Het |
Opcml |
T |
C |
9: 28,813,447 (GRCm39) |
F246S |
probably damaging |
Het |
Or10al2 |
C |
A |
17: 37,983,302 (GRCm39) |
Y129* |
probably null |
Het |
Or2ag1b |
A |
T |
7: 106,288,296 (GRCm39) |
I214N |
probably damaging |
Het |
Or56a42-ps1 |
A |
G |
7: 104,775,893 (GRCm39) |
V195A |
probably benign |
Het |
Or6c69 |
A |
G |
10: 129,747,731 (GRCm39) |
C139R |
probably damaging |
Het |
Or8g33 |
A |
C |
9: 39,337,515 (GRCm39) |
V284G |
possibly damaging |
Het |
Pdzd2 |
C |
A |
15: 12,402,405 (GRCm39) |
V729F |
probably damaging |
Het |
Pias2 |
C |
T |
18: 77,234,464 (GRCm39) |
Q565* |
probably null |
Het |
Pnp |
T |
A |
14: 51,188,177 (GRCm39) |
|
probably null |
Het |
Ptpn18 |
T |
C |
1: 34,502,211 (GRCm39) |
S76P |
probably benign |
Het |
Qtrt2 |
A |
T |
16: 43,683,560 (GRCm39) |
L304Q |
probably damaging |
Het |
Rad51ap2 |
A |
T |
12: 11,507,401 (GRCm39) |
E441V |
possibly damaging |
Het |
Ranbp2 |
T |
A |
10: 58,313,711 (GRCm39) |
V1477E |
probably benign |
Het |
Repin1 |
C |
T |
6: 48,574,367 (GRCm39) |
T432I |
possibly damaging |
Het |
Rest |
G |
A |
5: 77,430,358 (GRCm39) |
G926R |
probably benign |
Het |
Rnft1 |
T |
A |
11: 86,377,516 (GRCm39) |
F143L |
possibly damaging |
Het |
Sema3e |
A |
T |
5: 14,282,108 (GRCm39) |
I415L |
probably benign |
Het |
Slc10a1 |
T |
A |
12: 81,014,369 (GRCm39) |
N117I |
probably damaging |
Het |
Slc25a23 |
G |
A |
17: 57,366,709 (GRCm39) |
|
probably benign |
Het |
Slc2a2 |
T |
C |
3: 28,767,951 (GRCm39) |
S160P |
possibly damaging |
Het |
Srrd |
A |
G |
5: 112,486,322 (GRCm39) |
V178A |
possibly damaging |
Het |
Tmigd3 |
G |
T |
3: 105,829,277 (GRCm39) |
G198C |
probably benign |
Het |
Trbv28 |
G |
A |
6: 41,248,339 (GRCm39) |
M1I |
probably null |
Het |
Tril |
A |
G |
6: 53,796,569 (GRCm39) |
S218P |
probably damaging |
Het |
Trip11 |
T |
C |
12: 101,828,857 (GRCm39) |
K1749R |
probably benign |
Het |
Ttn |
A |
G |
2: 76,660,995 (GRCm39) |
V12011A |
|
Het |
Ubr4 |
T |
G |
4: 139,137,829 (GRCm39) |
F1093V |
probably benign |
Het |
Urb2 |
C |
A |
8: 124,755,142 (GRCm39) |
A283E |
probably benign |
Het |
Usp43 |
T |
A |
11: 67,789,707 (GRCm39) |
|
probably benign |
Het |
Vmn1r28 |
A |
T |
6: 58,242,669 (GRCm39) |
I171F |
probably benign |
Het |
Vps33a |
G |
A |
5: 123,671,962 (GRCm39) |
R469W |
probably damaging |
Het |
Zfp202 |
G |
A |
9: 40,123,053 (GRCm39) |
R605Q |
probably damaging |
Het |
Zpbp2 |
A |
T |
11: 98,445,446 (GRCm39) |
H158L |
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 |
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 |
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'- CAAGCAAGCAAGGTCTGATG -3'
(R):5'- TGGTTGATGGCACCGATCAG -3'
Sequencing Primer
(F):5'- TGCTGCTGCAGATGCTCAG -3'
(R):5'- CTCTCTGCGAGTAACTGTGGC -3'
|
Posted On |
2021-07-15 |