Incidental Mutation 'R1591:Mmrn1'
| ID |
175484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmrn1
|
| Ensembl Gene |
ENSMUSG00000054641 |
| Gene Name |
multimerin 1 |
| Synonyms |
Emilin4, 4921530G03Rik |
| MMRRC Submission |
039628-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1591 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
60921301-60966362 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 60921755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 71
(R71*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000129603]
[ENSMUST00000204333]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000129603
AA Change: R71*
|
| SMART Domains |
Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: R71*
| 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 |
noncoding transcript
Transcript: ENSMUST00000145763
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204333
AA Change: R71*
|
| SMART Domains |
Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: R71*
| 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 |
0.9711 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| Validation Efficiency |
100% (80/80) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
G |
T |
5: 100,957,505 (GRCm39) |
Q201K |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,341,484 (GRCm39) |
I829F |
possibly damaging |
Het |
| Acvr1b |
G |
T |
15: 101,091,905 (GRCm39) |
V62L |
probably benign |
Het |
| Adam6b |
A |
T |
12: 113,453,452 (GRCm39) |
I90F |
probably benign |
Het |
| Adgrf1 |
T |
C |
17: 43,621,872 (GRCm39) |
L703P |
probably damaging |
Het |
| Arf3 |
T |
C |
15: 98,640,669 (GRCm39) |
|
probably benign |
Het |
| Asns |
T |
C |
6: 7,678,007 (GRCm39) |
D357G |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,827,438 (GRCm39) |
M2461T |
probably damaging |
Het |
| B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,976,563 (GRCm39) |
I1584V |
probably benign |
Het |
| Bub3 |
T |
C |
7: 131,163,337 (GRCm39) |
|
probably null |
Het |
| Camkk2 |
A |
G |
5: 122,895,621 (GRCm39) |
|
probably null |
Het |
| Cand1 |
G |
T |
10: 119,047,774 (GRCm39) |
T572K |
possibly damaging |
Het |
| Caprin2 |
A |
T |
6: 148,774,606 (GRCm39) |
S235R |
possibly damaging |
Het |
| Cdh24 |
T |
C |
14: 54,873,799 (GRCm39) |
T452A |
probably benign |
Het |
| Cdh4 |
T |
C |
2: 179,528,657 (GRCm39) |
|
probably null |
Het |
| Cfap61 |
A |
G |
2: 145,987,378 (GRCm39) |
R1060G |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,710,166 (GRCm39) |
D314G |
probably damaging |
Het |
| Cplx3 |
C |
T |
9: 57,523,085 (GRCm39) |
V125I |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,950,710 (GRCm39) |
I3500F |
probably damaging |
Het |
| Dnah1 |
G |
T |
14: 30,994,289 (GRCm39) |
Q2858K |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,053,583 (GRCm39) |
E2884K |
probably benign |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,652,840 (GRCm39) |
I485N |
probably benign |
Het |
| Fap |
T |
C |
2: 62,384,201 (GRCm39) |
K2E |
probably damaging |
Het |
| Fgfr1 |
G |
A |
8: 26,062,736 (GRCm39) |
G671D |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,206,201 (GRCm39) |
R162Q |
possibly damaging |
Het |
| Grap2 |
A |
T |
15: 80,532,649 (GRCm39) |
Y272F |
probably damaging |
Het |
| Il11ra1 |
T |
A |
4: 41,766,200 (GRCm39) |
W246R |
probably damaging |
Het |
| Kcna3 |
A |
T |
3: 106,944,345 (GRCm39) |
I203F |
probably damaging |
Het |
| Kcng1 |
T |
C |
2: 168,110,630 (GRCm39) |
E178G |
possibly damaging |
Het |
| Kif19a |
A |
C |
11: 114,680,057 (GRCm39) |
H798P |
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,077,055 (GRCm39) |
L359P |
probably damaging |
Het |
| Krt6a |
A |
T |
15: 101,600,792 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
C |
T |
10: 127,441,475 (GRCm39) |
S216N |
probably benign |
Het |
| Lrp3 |
A |
G |
7: 34,901,790 (GRCm39) |
V676A |
probably benign |
Het |
| Lrrc63 |
T |
A |
14: 75,363,332 (GRCm39) |
K266N |
possibly damaging |
Het |
| Mccc1 |
C |
T |
3: 36,044,006 (GRCm39) |
V246M |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,700,092 (GRCm39) |
V1395A |
possibly damaging |
Het |
| Mrps2 |
C |
T |
2: 28,359,500 (GRCm39) |
A119V |
probably benign |
Het |
| Ogdh |
T |
C |
11: 6,299,384 (GRCm39) |
F750S |
probably damaging |
Het |
| Or1ak2 |
C |
A |
2: 36,827,990 (GRCm39) |
N286K |
probably damaging |
Het |
| Or51aa2 |
T |
G |
7: 103,188,274 (GRCm39) |
T56P |
probably benign |
Het |
| Or5p60 |
T |
A |
7: 107,723,571 (GRCm39) |
I300F |
possibly damaging |
Het |
| Or8b3 |
A |
G |
9: 38,314,232 (GRCm39) |
T18A |
probably damaging |
Het |
| Or8b42 |
A |
T |
9: 38,341,707 (GRCm39) |
N43I |
probably damaging |
Het |
| Osbpl11 |
A |
C |
16: 33,030,353 (GRCm39) |
I194L |
probably benign |
Het |
| Pacsin2 |
T |
C |
15: 83,269,252 (GRCm39) |
E14G |
probably damaging |
Het |
| Pate7 |
T |
C |
9: 35,687,952 (GRCm39) |
D96G |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,764 (GRCm39) |
T440A |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,618,878 (GRCm39) |
S223P |
probably damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,693,904 (GRCm39) |
R109K |
probably benign |
Het |
| Ppp2ca |
T |
C |
11: 51,989,916 (GRCm39) |
I14T |
possibly damaging |
Het |
| Rdh12 |
A |
T |
12: 79,258,278 (GRCm39) |
T102S |
probably damaging |
Het |
| Rsf1 |
T |
A |
7: 97,288,520 (GRCm39) |
C132* |
probably null |
Het |
| Rufy1 |
G |
A |
11: 50,285,755 (GRCm39) |
L621F |
probably damaging |
Het |
| Ruvbl2 |
C |
T |
7: 45,074,135 (GRCm39) |
R253H |
possibly damaging |
Het |
| Sdf2 |
A |
G |
11: 78,145,819 (GRCm39) |
E172G |
probably damaging |
Het |
| Skint5 |
C |
T |
4: 113,856,651 (GRCm39) |
|
probably null |
Het |
| Slc25a27 |
A |
G |
17: 43,964,315 (GRCm39) |
I185T |
probably benign |
Het |
| Slc41a3 |
A |
C |
6: 90,610,677 (GRCm39) |
K180Q |
probably benign |
Het |
| Slc7a14 |
A |
C |
3: 31,291,598 (GRCm39) |
F227V |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,756,142 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
A |
T |
11: 116,656,689 (GRCm39) |
D483E |
probably damaging |
Het |
| Tes |
A |
G |
6: 17,097,441 (GRCm39) |
K183R |
probably damaging |
Het |
| Tgfbr1 |
G |
T |
4: 47,403,471 (GRCm39) |
D290Y |
probably damaging |
Het |
| Tifab |
T |
A |
13: 56,324,164 (GRCm39) |
Y93F |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,848,196 (GRCm39) |
|
probably null |
Het |
| Tnfrsf21 |
T |
A |
17: 43,396,265 (GRCm39) |
S516R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,606,389 (GRCm39) |
Y18140C |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,244,747 (GRCm39) |
S3692T |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,149,459 (GRCm39) |
|
probably benign |
Het |
| Zfp26 |
T |
C |
9: 20,348,921 (GRCm39) |
T548A |
probably benign |
Het |
| Zfp870 |
C |
T |
17: 33,102,990 (GRCm39) |
G114D |
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 |
|
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'- AGGCTGGAAGAACTTCGTCTCTCG -3'
(R):5'- AGCAAGCATGACAGTTCCTGCTCC -3'
Sequencing Primer
(F):5'- TTACTGCCATGCTGGGACTAAAG -3'
(R):5'- AGTTCCTGCTCCGGTGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation