Incidental Mutation 'R9674:Mmrn1'
ID |
728225 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmrn1
|
Ensembl Gene |
ENSMUSG00000054641 |
Gene Name |
multimerin 1 |
Synonyms |
Emilin4, 4921530G03Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9674 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
60921301-60966362 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 60948072 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 272
(Q272*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119609
(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: Q272*
|
SMART Domains |
Protein: ENSMUSP00000119609 Gene: ENSMUSG00000054641 AA Change: Q272*
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 null
Transcript: ENSMUST00000204333
AA Change: Q272*
|
SMART Domains |
Protein: ENSMUSP00000145156 Gene: ENSMUSG00000054641 AA Change: Q272*
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
A |
T |
3: 59,914,472 (GRCm39) |
D25V |
possibly damaging |
Het |
Abca16 |
A |
G |
7: 120,074,668 (GRCm39) |
|
probably null |
Het |
Adam9 |
T |
A |
8: 25,441,014 (GRCm39) |
T820S |
possibly damaging |
Het |
Adamts6 |
G |
A |
13: 104,563,448 (GRCm39) |
V647I |
probably benign |
Het |
Afap1l2 |
T |
A |
19: 56,922,195 (GRCm39) |
R14S |
probably damaging |
Het |
Aff3 |
C |
T |
1: 38,248,864 (GRCm39) |
V748I |
probably damaging |
Het |
Aldh5a1 |
T |
C |
13: 25,110,038 (GRCm39) |
I166V |
probably benign |
Het |
Alx4 |
G |
T |
2: 93,507,858 (GRCm39) |
L384F |
probably damaging |
Het |
Ank3 |
T |
A |
10: 69,824,549 (GRCm39) |
S1073T |
|
Het |
Ankrd50 |
A |
G |
3: 38,506,574 (GRCm39) |
C275R |
unknown |
Het |
Apol11a |
G |
A |
15: 77,401,347 (GRCm39) |
S278N |
possibly damaging |
Het |
Astn2 |
T |
A |
4: 65,460,963 (GRCm39) |
D1057V |
probably damaging |
Het |
Atp11a |
T |
C |
8: 12,877,525 (GRCm39) |
V317A |
probably benign |
Het |
Cacna1i |
A |
G |
15: 80,264,629 (GRCm39) |
T1486A |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,454,291 (GRCm38) |
F1076L |
probably damaging |
Het |
Cct6b |
T |
C |
11: 82,645,838 (GRCm39) |
T154A |
probably damaging |
Het |
Cfap69 |
A |
G |
5: 5,697,021 (GRCm39) |
F92L |
possibly damaging |
Het |
Cyp19a1 |
A |
T |
9: 54,074,141 (GRCm39) |
I471K |
possibly damaging |
Het |
Cyp26a1 |
T |
A |
19: 37,689,726 (GRCm39) |
M474K |
probably damaging |
Het |
Cyp4a12a |
T |
C |
4: 115,186,156 (GRCm39) |
S439P |
probably benign |
Het |
Cyp4f37 |
T |
A |
17: 32,846,841 (GRCm39) |
|
probably null |
Het |
Dgki |
A |
G |
6: 37,027,157 (GRCm39) |
Y395H |
probably damaging |
Het |
Dlg1 |
T |
C |
16: 31,610,580 (GRCm39) |
V287A |
probably damaging |
Het |
Dlx2 |
C |
T |
2: 71,376,496 (GRCm39) |
G81S |
possibly damaging |
Het |
Dnah8 |
G |
T |
17: 30,998,112 (GRCm39) |
K3448N |
possibly damaging |
Het |
Dnhd1 |
C |
T |
7: 105,363,429 (GRCm39) |
P3997L |
probably damaging |
Het |
Drosha |
C |
G |
15: 12,890,170 (GRCm39) |
D910E |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,442,036 (GRCm39) |
V1597A |
probably benign |
Het |
Eif1b |
A |
G |
9: 120,323,265 (GRCm39) |
K42E |
possibly damaging |
Het |
Enpp2 |
C |
A |
15: 54,816,135 (GRCm39) |
G10W |
unknown |
Het |
Exd2 |
A |
G |
12: 80,536,372 (GRCm39) |
N334S |
probably benign |
Het |
Glt6d1 |
T |
A |
2: 25,684,382 (GRCm39) |
N208I |
probably benign |
Het |
Grin2a |
T |
A |
16: 9,471,265 (GRCm39) |
K668* |
probably null |
Het |
Grm1 |
A |
G |
10: 10,609,028 (GRCm39) |
V535A |
possibly damaging |
Het |
H2ac7 |
A |
G |
13: 23,758,862 (GRCm39) |
D73G |
possibly damaging |
Het |
Hey2 |
A |
T |
10: 30,710,413 (GRCm39) |
D113E |
probably benign |
Het |
Ighm |
T |
A |
12: 113,385,139 (GRCm39) |
I274F |
|
Het |
Ighv1-58 |
G |
T |
12: 115,275,847 (GRCm39) |
T97K |
probably damaging |
Het |
Igkv6-20 |
T |
C |
6: 70,312,852 (GRCm39) |
H107R |
possibly damaging |
Het |
Il15 |
C |
T |
8: 83,069,938 (GRCm39) |
G42D |
probably damaging |
Het |
Jakmip2 |
T |
A |
18: 43,704,961 (GRCm39) |
M347L |
probably benign |
Het |
Kcnh7 |
T |
C |
2: 62,595,060 (GRCm39) |
Y670C |
probably damaging |
Het |
Ktn1 |
G |
C |
14: 47,922,213 (GRCm39) |
C458S |
possibly damaging |
Het |
Lama5 |
C |
T |
2: 179,840,267 (GRCm39) |
|
probably null |
Het |
Lce1i |
T |
C |
3: 92,685,113 (GRCm39) |
Q21R |
unknown |
Het |
Lmo7 |
A |
T |
14: 102,078,340 (GRCm39) |
E81D |
probably damaging |
Het |
Lrrc4b |
A |
T |
7: 44,111,852 (GRCm39) |
I575F |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,966,183 (GRCm39) |
D426E |
probably damaging |
Het |
Neto1 |
G |
A |
18: 86,491,827 (GRCm39) |
V243M |
probably damaging |
Het |
Notch1 |
G |
A |
2: 26,361,308 (GRCm39) |
R1061C |
probably damaging |
Het |
Or5g25 |
T |
G |
2: 85,478,593 (GRCm39) |
Q24P |
possibly damaging |
Het |
Or5p67 |
A |
T |
7: 107,922,271 (GRCm39) |
I204N |
probably benign |
Het |
Osgin1 |
A |
G |
8: 120,172,499 (GRCm39) |
D431G |
possibly damaging |
Het |
Ppp4r1 |
A |
G |
17: 66,140,127 (GRCm39) |
D675G |
probably damaging |
Het |
Pramel25 |
T |
A |
4: 143,520,162 (GRCm39) |
H135Q |
probably benign |
Het |
Prkdc |
T |
A |
16: 15,533,819 (GRCm39) |
H1552Q |
probably damaging |
Het |
Rbfox1 |
T |
C |
16: 7,170,885 (GRCm39) |
F282L |
probably benign |
Het |
Ret |
T |
C |
6: 118,130,830 (GRCm39) |
D1111G |
probably damaging |
Het |
Rnf224 |
A |
T |
2: 25,126,330 (GRCm39) |
Y8N |
probably benign |
Het |
Rtl1 |
G |
T |
12: 109,559,024 (GRCm39) |
H938Q |
possibly damaging |
Het |
Sec23ip |
T |
G |
7: 128,380,187 (GRCm39) |
D867E |
probably damaging |
Het |
Sema3f |
A |
T |
9: 107,566,947 (GRCm39) |
L194Q |
possibly damaging |
Het |
Sfmbt1 |
C |
T |
14: 30,495,851 (GRCm39) |
R45C |
probably damaging |
Het |
Slc7a4 |
T |
C |
16: 17,392,208 (GRCm39) |
I409V |
probably benign |
Het |
Slco6c1 |
T |
A |
1: 97,047,565 (GRCm39) |
D246V |
probably damaging |
Het |
Smap2 |
C |
T |
4: 120,826,745 (GRCm39) |
M426I |
probably benign |
Het |
Spata31h1 |
C |
T |
10: 82,120,030 (GRCm39) |
V4327I |
possibly damaging |
Het |
Tmem184b |
T |
A |
15: 79,249,524 (GRCm39) |
T315S |
probably benign |
Het |
Trpm4 |
A |
T |
7: 44,982,811 (GRCm39) |
D30E |
possibly damaging |
Het |
Ttc7b |
T |
A |
12: 100,432,553 (GRCm39) |
K154N |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,607,380 (GRCm39) |
H1104Q |
probably damaging |
Het |
Wnk4 |
T |
A |
11: 101,166,874 (GRCm39) |
L1010Q |
unknown |
Het |
Xpo6 |
T |
A |
7: 125,723,700 (GRCm39) |
H537L |
probably benign |
Het |
Xrn1 |
A |
T |
9: 95,855,645 (GRCm39) |
Y314F |
probably damaging |
Het |
Xrn1 |
A |
T |
9: 95,855,647 (GRCm39) |
I315F |
possibly damaging |
Het |
Zap70 |
T |
C |
1: 36,810,150 (GRCm39) |
Y87H |
probably benign |
Het |
Zbtb4 |
T |
C |
11: 69,669,973 (GRCm39) |
Y899H |
probably damaging |
Het |
Zcchc7 |
T |
A |
4: 44,931,418 (GRCm39) |
H202Q |
possibly damaging |
Het |
Zeb2 |
A |
G |
2: 44,891,725 (GRCm39) |
Y276H |
probably damaging |
Het |
Zfp867 |
T |
G |
11: 59,355,850 (GRCm39) |
Q68P |
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 |
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 |
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'- ATGTGGCATTACCCTGTCC -3'
(R):5'- TTCTACCTGGAACATGAAACCC -3'
Sequencing Primer
(F):5'- GTGGCATTACCCTGTCCTACAGATG -3'
(R):5'- ACAGAACTGAGAAGCATGTTAATCC -3'
|
Posted On |
2022-10-06 |