Incidental Mutation 'R7388:Mmrn1'
| ID |
573254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmrn1
|
| Ensembl Gene |
ENSMUSG00000054641 |
| Gene Name |
multimerin 1 |
| Synonyms |
Emilin4, 4921530G03Rik |
| MMRRC Submission |
045470-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7388 (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 60953236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 506
(S506T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119609
(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: S506T
PolyPhen 2
Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: S506T
| 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: S506T
PolyPhen 2
Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: S506T
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
T |
C |
18: 67,556,023 (GRCm39) |
E436G |
probably damaging |
Het |
| Agbl5 |
T |
A |
5: 31,060,583 (GRCm39) |
L759* |
probably null |
Het |
| Ankrd13b |
T |
C |
11: 77,363,583 (GRCm39) |
D460G |
probably benign |
Het |
| Apol10a |
A |
G |
15: 77,373,225 (GRCm39) |
D287G |
possibly damaging |
Het |
| Arhgap44 |
A |
T |
11: 64,915,094 (GRCm39) |
Y391* |
probably null |
Het |
| Asz1 |
G |
T |
6: 18,074,900 (GRCm39) |
S271R |
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,473,170 (GRCm39) |
N325D |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,082,579 (GRCm39) |
L247Q |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 149,036,850 (GRCm39) |
D1704G |
unknown |
Het |
| Cdk5rap1 |
G |
A |
2: 154,202,595 (GRCm39) |
R212W |
probably damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,167,318 (GRCm39) |
T444S |
probably benign |
Het |
| Cers2 |
T |
G |
3: 95,228,656 (GRCm39) |
F160V |
probably benign |
Het |
| Cfap276 |
T |
C |
3: 108,450,815 (GRCm39) |
F86L |
possibly damaging |
Het |
| Cga |
T |
A |
4: 34,907,076 (GRCm39) |
M99K |
probably benign |
Het |
| Cspp1 |
C |
T |
1: 10,135,572 (GRCm39) |
R138* |
probably null |
Het |
| Dao |
T |
G |
5: 114,153,273 (GRCm39) |
*133E |
probably null |
Het |
| Ddx1 |
A |
T |
12: 13,275,456 (GRCm39) |
C544S |
probably null |
Het |
| Dgkq |
A |
T |
5: 108,806,112 (GRCm39) |
V98E |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,169,300 (GRCm39) |
T434S |
possibly damaging |
Het |
| Dntt |
A |
G |
19: 41,027,418 (GRCm39) |
N162D |
probably benign |
Het |
| Dpysl5 |
T |
C |
5: 30,902,805 (GRCm39) |
V79A |
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,611,871 (GRCm39) |
L571P |
probably damaging |
Het |
| Ep300 |
T |
C |
15: 81,532,567 (GRCm39) |
C1602R |
unknown |
Het |
| Flrt3 |
C |
T |
2: 140,503,672 (GRCm39) |
|
probably null |
Het |
| Gk2 |
A |
G |
5: 97,604,757 (GRCm39) |
V27A |
probably damaging |
Het |
| Gnpat |
T |
G |
8: 125,614,553 (GRCm39) |
M663R |
probably benign |
Het |
| Hc |
A |
T |
2: 34,874,859 (GRCm39) |
|
probably null |
Het |
| Il12rb1 |
A |
G |
8: 71,263,271 (GRCm39) |
Y67C |
probably damaging |
Het |
| Ints15 |
G |
A |
5: 143,297,600 (GRCm39) |
A149V |
probably benign |
Het |
| Kmt2b |
C |
T |
7: 30,281,385 (GRCm39) |
D1229N |
probably damaging |
Het |
| Lamc1 |
T |
C |
1: 153,124,822 (GRCm39) |
T650A |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,419,766 (GRCm39) |
R948* |
probably null |
Het |
| Map3k21 |
T |
C |
8: 126,654,336 (GRCm39) |
I385T |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,014,023 (GRCm39) |
F409S |
probably damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,455,892 (GRCm39) |
I896N |
probably benign |
Het |
| Noxred1 |
C |
A |
12: 87,273,799 (GRCm39) |
V81L |
probably damaging |
Het |
| Nrcam |
A |
T |
12: 44,645,272 (GRCm39) |
I1225F |
probably damaging |
Het |
| Or2z2 |
C |
T |
11: 58,346,481 (GRCm39) |
C98Y |
probably damaging |
Het |
| Otos |
T |
A |
1: 92,572,241 (GRCm39) |
|
probably null |
Het |
| Pcdh20 |
A |
G |
14: 88,706,103 (GRCm39) |
I399T |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,309,528 (GRCm39) |
V2807I |
not run |
Het |
| Prrx2 |
A |
G |
2: 30,770,902 (GRCm39) |
E235G |
probably damaging |
Het |
| Rab13 |
T |
C |
3: 90,128,327 (GRCm39) |
I41T |
probably damaging |
Het |
| Rai1 |
A |
C |
11: 60,080,201 (GRCm39) |
T1422P |
possibly damaging |
Het |
| Rcn1 |
C |
T |
2: 105,222,336 (GRCm39) |
V217M |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,518,998 (GRCm39) |
V408E |
probably damaging |
Het |
| Sec16a |
C |
T |
2: 26,318,376 (GRCm39) |
A121T |
|
Het |
| Slc35d1 |
A |
G |
4: 103,046,982 (GRCm39) |
|
probably null |
Het |
| Slc39a6 |
A |
T |
18: 24,717,106 (GRCm39) |
V642E |
probably damaging |
Het |
| Slc6a19 |
G |
A |
13: 73,841,203 (GRCm39) |
A69V |
probably benign |
Het |
| Spink6 |
A |
T |
18: 44,215,386 (GRCm39) |
T79S |
probably damaging |
Het |
| Spire1 |
T |
C |
18: 67,652,950 (GRCm39) |
D170G |
probably damaging |
Het |
| Sugp1 |
T |
C |
8: 70,505,269 (GRCm39) |
S79P |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,934,167 (GRCm39) |
Y201H |
probably damaging |
Het |
| Tbc1d10a |
T |
C |
11: 4,155,858 (GRCm39) |
|
probably null |
Het |
| Tmem14a |
C |
T |
1: 21,299,735 (GRCm39) |
Q122* |
probably null |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Trmt61a |
A |
G |
12: 111,645,321 (GRCm39) |
I86V |
possibly damaging |
Het |
| Tubgcp4 |
G |
A |
2: 121,020,447 (GRCm39) |
|
probably null |
Het |
| Vmn1r79 |
T |
A |
7: 11,910,668 (GRCm39) |
Y183* |
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,202,742 (GRCm39) |
W112R |
probably benign |
Het |
| Vpreb1a |
T |
C |
16: 16,686,516 (GRCm39) |
K125E |
probably benign |
Het |
| Wdr6 |
A |
T |
9: 108,451,971 (GRCm39) |
F637L |
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 |
|
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 |
|
|
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'- AAGAAAATCAGCCCACGTGG -3'
(R):5'- AAGGATGGTAAGGTTGCTGATC -3'
Sequencing Primer
(F):5'- AGCCCACGTGGAAGGACATC -3'
(R):5'- ATCTTGCTCTCTTGGACATGCAAATC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation