Incidental Mutation 'R4880:Mmrn1'
ID |
375209 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmrn1
|
Ensembl Gene |
ENSMUSG00000054641 |
Gene Name |
multimerin 1 |
Synonyms |
Emilin4, 4921530G03Rik |
MMRRC Submission |
042489-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4880 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
60921301-60966362 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 60953423 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 568
(E568G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145156
(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: E568G
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000119609 Gene: ENSMUSG00000054641 AA Change: E568G
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: E568G
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000145156 Gene: ENSMUSG00000054641 AA Change: E568G
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 |
0.0704 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
98% (89/91) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
C |
7: 41,276,529 (GRCm39) |
I744T |
possibly damaging |
Het |
Adgrb1 |
T |
A |
15: 74,458,871 (GRCm39) |
F1324L |
possibly damaging |
Het |
Adm |
A |
G |
7: 110,228,326 (GRCm39) |
H230R |
probably benign |
Het |
Ank2 |
A |
T |
3: 126,840,475 (GRCm39) |
|
probably null |
Het |
Arih1 |
A |
T |
9: 59,344,168 (GRCm39) |
F156L |
possibly damaging |
Het |
Atf6b |
A |
G |
17: 34,873,529 (GRCm39) |
H660R |
probably damaging |
Het |
Bcl9l |
C |
A |
9: 44,420,007 (GRCm39) |
Q1101K |
probably benign |
Het |
Ccdc174 |
G |
A |
6: 91,876,572 (GRCm39) |
|
probably benign |
Het |
Ccdc65 |
A |
C |
15: 98,620,538 (GRCm39) |
|
probably null |
Het |
Cela2a |
T |
C |
4: 141,549,598 (GRCm39) |
N59S |
probably benign |
Het |
Cfap157 |
A |
T |
2: 32,668,261 (GRCm39) |
V393E |
probably damaging |
Het |
Chd1 |
T |
C |
17: 17,594,916 (GRCm39) |
F17S |
probably damaging |
Het |
Cpne3 |
T |
C |
4: 19,540,827 (GRCm39) |
I183V |
probably benign |
Het |
Cyp2d11 |
C |
A |
15: 82,276,306 (GRCm39) |
V122L |
probably benign |
Het |
Dcaf8 |
C |
A |
1: 172,015,056 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
T |
A |
7: 105,404,937 (GRCm39) |
D2535V |
probably benign |
Het |
Eif4a2 |
G |
T |
16: 22,927,650 (GRCm39) |
|
probably benign |
Het |
Fzd4 |
T |
A |
7: 89,057,109 (GRCm39) |
D385E |
probably benign |
Het |
Galnt13 |
C |
A |
2: 54,950,584 (GRCm39) |
Q422K |
probably damaging |
Het |
Gnptab |
C |
T |
10: 88,268,413 (GRCm39) |
Q507* |
probably null |
Het |
Hoxa7 |
A |
G |
6: 52,194,014 (GRCm39) |
|
probably benign |
Het |
Htra1 |
T |
A |
7: 130,563,813 (GRCm39) |
V228D |
probably damaging |
Het |
Idi2l |
A |
T |
13: 8,990,702 (GRCm39) |
|
probably null |
Het |
Ifi203 |
T |
A |
1: 173,756,716 (GRCm39) |
|
probably benign |
Het |
Iqca1l |
T |
C |
5: 24,754,750 (GRCm39) |
D340G |
probably benign |
Het |
Irs1 |
TGGGGTGGACATCGAACTGAAGGAG |
TG |
1: 82,265,453 (GRCm39) |
913 |
probably null |
Het |
Itga2b |
G |
T |
11: 102,348,548 (GRCm39) |
|
probably benign |
Het |
Itgb1 |
G |
T |
8: 129,442,631 (GRCm39) |
R272L |
probably damaging |
Het |
Kif9 |
A |
G |
9: 110,330,703 (GRCm39) |
E343G |
probably damaging |
Het |
Klhl5 |
T |
C |
5: 65,316,244 (GRCm39) |
V97A |
probably damaging |
Het |
Lama5 |
C |
A |
2: 179,818,861 (GRCm39) |
|
probably benign |
Het |
Lamb2 |
A |
G |
9: 108,361,226 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
A |
2: 41,660,931 (GRCm39) |
Y59F |
probably benign |
Het |
Mreg |
A |
G |
1: 72,201,495 (GRCm39) |
Y166H |
probably damaging |
Het |
Myh7 |
C |
A |
14: 55,216,045 (GRCm39) |
V1323F |
probably benign |
Het |
Nr1i3 |
T |
A |
1: 171,043,951 (GRCm39) |
I91K |
probably damaging |
Het |
Nsfl1c |
T |
A |
2: 151,348,230 (GRCm39) |
D206E |
probably damaging |
Het |
Or11g24 |
T |
C |
14: 50,662,758 (GRCm39) |
Y261H |
possibly damaging |
Het |
Or13c3 |
A |
T |
4: 52,856,411 (GRCm39) |
M34K |
probably damaging |
Het |
Or2ak5 |
G |
A |
11: 58,611,107 (GRCm39) |
L256F |
probably benign |
Het |
Or4k44 |
A |
T |
2: 111,367,698 (GRCm39) |
L312* |
probably null |
Het |
Or5k17 |
A |
C |
16: 58,746,463 (GRCm39) |
L157W |
probably damaging |
Het |
Or8b54 |
T |
A |
9: 38,686,843 (GRCm39) |
C97* |
probably null |
Het |
Pcdhb7 |
C |
T |
18: 37,475,284 (GRCm39) |
T140I |
probably benign |
Het |
Pcdhgb5 |
T |
G |
18: 37,865,641 (GRCm39) |
S479A |
probably benign |
Het |
Pcsk5 |
T |
A |
19: 17,425,054 (GRCm39) |
Y1583F |
probably damaging |
Het |
Pias1 |
T |
C |
9: 62,820,080 (GRCm39) |
R296G |
probably benign |
Het |
Plscr1l1 |
A |
G |
9: 92,236,665 (GRCm39) |
E108G |
probably damaging |
Het |
Polr1e |
T |
A |
4: 45,022,280 (GRCm39) |
C100S |
probably damaging |
Het |
Rpap1 |
C |
A |
2: 119,614,346 (GRCm39) |
R17L |
probably damaging |
Het |
Rtn1 |
C |
T |
12: 72,264,232 (GRCm39) |
V192I |
possibly damaging |
Het |
Ryr2 |
G |
A |
13: 11,767,104 (GRCm39) |
P1262L |
probably damaging |
Het |
Slc4a7 |
G |
T |
14: 14,757,342 (GRCm38) |
D396Y |
probably damaging |
Het |
Slc5a8 |
T |
C |
10: 88,727,886 (GRCm39) |
Y118H |
probably damaging |
Het |
Slc7a6os |
T |
A |
8: 106,937,247 (GRCm39) |
Q71L |
probably benign |
Het |
Sphkap |
A |
G |
1: 83,266,538 (GRCm39) |
V127A |
probably damaging |
Het |
Srpk1 |
A |
G |
17: 28,810,199 (GRCm39) |
S580P |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,026,593 (GRCm39) |
I3474V |
probably damaging |
Het |
Tchh |
A |
G |
3: 93,351,130 (GRCm39) |
D190G |
possibly damaging |
Het |
Tenm4 |
T |
A |
7: 96,555,025 (GRCm39) |
|
probably null |
Het |
Tex14 |
T |
A |
11: 87,377,121 (GRCm39) |
I155N |
possibly damaging |
Het |
Tm7sf3 |
A |
T |
6: 146,511,358 (GRCm39) |
V377E |
possibly damaging |
Het |
Tnfsf9 |
T |
A |
17: 57,412,433 (GRCm39) |
M1K |
probably null |
Het |
Tns2 |
C |
T |
15: 102,020,474 (GRCm39) |
T780I |
probably damaging |
Het |
Trdn |
T |
A |
10: 33,347,575 (GRCm39) |
D639E |
probably benign |
Het |
Trmt10a |
A |
G |
3: 137,857,972 (GRCm39) |
E173G |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,649,119 (GRCm39) |
P10984S |
possibly damaging |
Het |
Tubb6 |
C |
T |
18: 67,534,386 (GRCm39) |
T95M |
possibly damaging |
Het |
Uroc1 |
G |
T |
6: 90,334,519 (GRCm39) |
R577L |
probably damaging |
Het |
Vmn2r86 |
T |
A |
10: 130,289,484 (GRCm39) |
D137V |
probably benign |
Het |
Xkr7 |
T |
C |
2: 152,896,873 (GRCm39) |
Y576H |
probably damaging |
Het |
Zfp410 |
A |
G |
12: 84,384,449 (GRCm39) |
N355D |
probably damaging |
Het |
Zfp59 |
C |
A |
7: 27,543,742 (GRCm39) |
D22E |
probably damaging |
Het |
Zfp64 |
C |
T |
2: 168,736,297 (GRCm39) |
R460H |
probably damaging |
Het |
Zfp655 |
T |
C |
5: 145,181,168 (GRCm39) |
V342A |
probably damaging |
Het |
Zfp990 |
G |
A |
4: 145,264,490 (GRCm39) |
G496E |
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 |
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'- TCAGGAACAGAGAATGTCGCC -3'
(R):5'- TGTTGAAGCGACGACCTCTG -3'
Sequencing Primer
(F):5'- ATGTCGCCACTGAGGAATC -3'
(R):5'- AGGCTGAAGGATCTCCATGTC -3'
|
Posted On |
2016-03-17 |