Incidental Mutation 'R8353:Mmrn1'
| ID |
645605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmrn1
|
| Ensembl Gene |
ENSMUSG00000054641 |
| Gene Name |
multimerin 1 |
| Synonyms |
Emilin4, 4921530G03Rik |
| MMRRC Submission |
067805-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
60921301-60966362 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60965361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 1131
(Y1131N)
|
| 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: Y1131N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: Y1131N
| 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: Y1130N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: Y1130N
| 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: 99.6%
- 20x: 98.8%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
G |
T |
9: 101,815,884 (GRCm39) |
C23F |
possibly damaging |
Het |
| Adam29 |
T |
C |
8: 56,326,196 (GRCm39) |
H86R |
possibly damaging |
Het |
| Alas1 |
C |
T |
9: 106,113,721 (GRCm39) |
R508Q |
possibly damaging |
Het |
| Albfm1 |
A |
T |
5: 90,714,360 (GRCm39) |
R123S |
possibly damaging |
Het |
| Ark2n |
T |
C |
18: 77,761,604 (GRCm39) |
E236G |
probably damaging |
Het |
| Bmp3 |
G |
A |
5: 99,003,282 (GRCm39) |
|
probably null |
Het |
| Bud13 |
A |
G |
9: 46,199,499 (GRCm39) |
T287A |
probably benign |
Het |
| C3 |
T |
C |
17: 57,519,643 (GRCm39) |
E1203G |
probably benign |
Het |
| Carmil2 |
A |
C |
8: 106,416,843 (GRCm39) |
Q476P |
probably damaging |
Het |
| Ccdc187 |
T |
A |
2: 26,166,458 (GRCm39) |
T707S |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,735,086 (GRCm39) |
V1435E |
probably damaging |
Het |
| Chrm3 |
A |
T |
13: 9,927,267 (GRCm39) |
*590K |
probably null |
Het |
| Commd1 |
C |
T |
11: 22,928,503 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
A |
T |
2: 91,821,274 (GRCm39) |
Y314* |
probably null |
Het |
| Ctc1 |
T |
A |
11: 68,913,275 (GRCm39) |
S90R |
probably benign |
Het |
| Dixdc1 |
T |
C |
9: 50,596,186 (GRCm39) |
Q413R |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,208,213 (GRCm39) |
T998A |
probably benign |
Het |
| Dnai4 |
A |
G |
4: 102,917,113 (GRCm39) |
I577T |
possibly damaging |
Het |
| Eif1ad14 |
C |
T |
12: 87,886,323 (GRCm39) |
S102N |
probably benign |
Het |
| Fam89b |
A |
G |
19: 5,778,903 (GRCm39) |
S99P |
possibly damaging |
Het |
| Fbxo30 |
A |
G |
10: 11,166,479 (GRCm39) |
I400M |
probably benign |
Het |
| Gad1 |
A |
T |
2: 70,431,057 (GRCm39) |
M567L |
probably benign |
Het |
| Gemin5 |
T |
C |
11: 58,016,065 (GRCm39) |
S1314G |
probably benign |
Het |
| Gm9195 |
T |
G |
14: 72,678,201 (GRCm39) |
I2323L |
probably benign |
Het |
| Gria1 |
T |
A |
11: 57,133,877 (GRCm39) |
F585L |
probably damaging |
Het |
| Hbs1l |
A |
T |
10: 21,185,178 (GRCm39) |
H200L |
probably benign |
Het |
| Igsf5 |
A |
G |
16: 96,222,996 (GRCm39) |
Q360R |
probably benign |
Het |
| Il31ra |
A |
T |
13: 112,660,717 (GRCm39) |
V624E |
probably damaging |
Het |
| Iqsec3 |
T |
C |
6: 121,364,779 (GRCm39) |
R837G |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,475,129 (GRCm39) |
S363P |
probably benign |
Het |
| Lpl |
A |
G |
8: 69,348,433 (GRCm39) |
I221V |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,501,154 (GRCm39) |
D887E |
possibly damaging |
Het |
| Mmp10 |
T |
G |
9: 7,508,203 (GRCm39) |
F443C |
probably damaging |
Het |
| Mrc2 |
T |
A |
11: 105,223,137 (GRCm39) |
V460E |
probably damaging |
Het |
| Nicn1 |
T |
A |
9: 108,170,572 (GRCm39) |
F57Y |
probably damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,449,528 (GRCm39) |
Y577C |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,312,352 (GRCm39) |
T1535A |
probably damaging |
Het |
| Opa1 |
G |
A |
16: 29,439,686 (GRCm39) |
R755H |
probably damaging |
Het |
| Phldb2 |
A |
G |
16: 45,645,385 (GRCm39) |
S354P |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,489,121 (GRCm39) |
S316P |
probably damaging |
Het |
| Pnpla1 |
T |
A |
17: 29,077,873 (GRCm39) |
D11E |
probably benign |
Het |
| Pold2 |
A |
G |
11: 5,825,104 (GRCm39) |
F98L |
probably damaging |
Het |
| Prph |
G |
A |
15: 98,954,657 (GRCm39) |
R241Q |
probably benign |
Het |
| Rcl1 |
T |
C |
19: 29,093,159 (GRCm39) |
I58T |
possibly damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,514,151 (GRCm39) |
N117D |
probably benign |
Het |
| Sars1 |
G |
A |
3: 108,336,029 (GRCm39) |
S331L |
probably benign |
Het |
| Scfd1 |
A |
C |
12: 51,459,374 (GRCm39) |
K312Q |
possibly damaging |
Het |
| Senp5 |
A |
G |
16: 31,808,166 (GRCm39) |
C363R |
probably benign |
Het |
| Senp7 |
A |
G |
16: 56,008,691 (GRCm39) |
I1024V |
probably damaging |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,103,663 (GRCm39) |
L1191P |
probably damaging |
Het |
| Stk40 |
A |
G |
4: 126,022,766 (GRCm39) |
E180G |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,684,792 (GRCm39) |
V536E |
probably benign |
Het |
| Tex15 |
G |
T |
8: 34,066,899 (GRCm39) |
E2110* |
probably null |
Het |
| Thbs4 |
G |
A |
13: 92,927,325 (GRCm39) |
P55S |
probably benign |
Het |
| Tmem115 |
T |
C |
9: 107,411,997 (GRCm39) |
V107A |
probably benign |
Het |
| Tnfaip6 |
A |
C |
2: 51,945,879 (GRCm39) |
I242L |
probably benign |
Het |
| Trabd |
G |
T |
15: 88,969,616 (GRCm39) |
A270S |
possibly damaging |
Het |
| Trim30d |
T |
A |
7: 104,136,947 (GRCm39) |
I86F |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,970,372 (GRCm39) |
V404A |
probably benign |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,886 (GRCm39) |
Y143H |
probably benign |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,373 (GRCm39) |
D707V |
probably damaging |
Het |
| Vnn3 |
G |
A |
10: 23,745,443 (GRCm39) |
R464H |
probably benign |
Het |
| Wdr27 |
T |
C |
17: 15,112,751 (GRCm39) |
T652A |
probably benign |
Het |
| Yeats2 |
C |
T |
16: 20,041,637 (GRCm39) |
R1176* |
probably null |
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 |
|
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'- TCCAAAGGATCTTACAGATATGCTCC -3'
(R):5'- TCTCACACAAACTTAGGTGCG -3'
Sequencing Primer
(F):5'- AGGATCTTACAGATATGCTCCGATGG -3'
(R):5'- CACTGAACGTGGTCACAGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation