Incidental Mutation 'R8907:Mmrn1'
ID |
678439 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmrn1
|
Ensembl Gene |
ENSMUSG00000054641 |
Gene Name |
multimerin 1 |
Synonyms |
Emilin4, 4921530G03Rik |
MMRRC Submission |
068763-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8907 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
60921301-60966362 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 60953077 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 453
(E453K)
|
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: E453K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119609 Gene: ENSMUSG00000054641 AA Change: E453K
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: E453K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000145156 Gene: ENSMUSG00000054641 AA Change: E453K
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: 99.4%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5930422O12Rik |
A |
G |
8: 33,919,398 (GRCm39) |
I73V |
probably damaging |
Het |
Agap3 |
T |
C |
5: 24,679,629 (GRCm39) |
I109T |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,986,452 (GRCm39) |
V2579M |
probably benign |
Het |
Akap13 |
T |
C |
7: 75,260,444 (GRCm39) |
S220P |
probably benign |
Het |
Akap13 |
C |
G |
7: 75,260,456 (GRCm39) |
P224A |
probably damaging |
Het |
Alpk1 |
G |
A |
3: 127,474,642 (GRCm39) |
Q454* |
probably null |
Het |
Asrgl1 |
C |
T |
19: 9,090,506 (GRCm39) |
G280D |
probably damaging |
Het |
Atp6v0d1 |
TTCTTACCTC |
T |
8: 106,251,782 (GRCm39) |
|
probably benign |
Het |
Atxn2l |
T |
A |
7: 126,099,425 (GRCm39) |
D204V |
probably damaging |
Het |
B430306N03Rik |
T |
C |
17: 48,628,100 (GRCm39) |
Y177H |
probably damaging |
Het |
Bcl2l14 |
G |
A |
6: 134,400,585 (GRCm39) |
C2Y |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,002,295 (GRCm39) |
Y1413* |
probably null |
Het |
Bphl |
A |
T |
13: 34,230,930 (GRCm39) |
M125L |
possibly damaging |
Het |
Cdh10 |
A |
T |
15: 19,013,521 (GRCm39) |
N707I |
probably damaging |
Het |
Ceacam1 |
T |
A |
7: 25,171,444 (GRCm39) |
D340V |
possibly damaging |
Het |
Cklf |
G |
A |
8: 104,977,671 (GRCm39) |
V8I |
probably benign |
Het |
Cln5 |
A |
G |
14: 103,310,711 (GRCm39) |
N126S |
probably damaging |
Het |
Col5a2 |
A |
T |
1: 45,456,106 (GRCm39) |
M327K |
probably benign |
Het |
Col6a6 |
A |
T |
9: 105,644,528 (GRCm39) |
F1253L |
probably damaging |
Het |
Crb2 |
G |
A |
2: 37,685,395 (GRCm39) |
S1169N |
probably benign |
Het |
Cspg4 |
A |
T |
9: 56,790,967 (GRCm39) |
D72V |
probably damaging |
Het |
Ctnnd2 |
C |
T |
15: 30,905,873 (GRCm39) |
P840L |
probably damaging |
Het |
Eea1 |
T |
C |
10: 95,826,274 (GRCm39) |
Y105H |
probably damaging |
Het |
Epha4 |
A |
C |
1: 77,483,422 (GRCm39) |
S196A |
probably damaging |
Het |
Evx1 |
C |
T |
6: 52,293,746 (GRCm39) |
R305C |
probably damaging |
Het |
Fcamr |
G |
T |
1: 130,740,328 (GRCm39) |
G249V |
probably damaging |
Het |
Fdxacb1 |
C |
T |
9: 50,681,451 (GRCm39) |
T124I |
probably damaging |
Het |
Fmn1 |
T |
G |
2: 113,355,914 (GRCm39) |
L883R |
unknown |
Het |
Frmd4b |
T |
C |
6: 97,273,046 (GRCm39) |
N782S |
probably damaging |
Het |
Frmpd2 |
T |
G |
14: 33,248,380 (GRCm39) |
C621W |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,816,984 (GRCm39) |
V4239D |
probably benign |
Het |
Gcnt4 |
A |
G |
13: 97,083,844 (GRCm39) |
Y380C |
probably damaging |
Het |
Gm7298 |
T |
C |
6: 121,741,817 (GRCm39) |
V413A |
probably benign |
Het |
Gstp3 |
C |
T |
19: 4,108,145 (GRCm39) |
V93M |
possibly damaging |
Het |
Helz2 |
A |
T |
2: 180,874,920 (GRCm39) |
M1858K |
possibly damaging |
Het |
Ighv1-7 |
T |
A |
12: 114,502,353 (GRCm39) |
K38M |
probably damaging |
Het |
Klri1 |
T |
C |
6: 129,680,283 (GRCm39) |
K124R |
probably null |
Het |
Kmt2c |
A |
T |
5: 25,514,609 (GRCm39) |
F3078Y |
probably damaging |
Het |
Map4k4 |
C |
T |
1: 40,058,770 (GRCm39) |
P988L |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,417,875 (GRCm39) |
V3607E |
probably benign |
Het |
Myo15a |
T |
A |
11: 60,417,434 (GRCm39) |
I3461N |
|
Het |
Ngef |
G |
A |
1: 87,405,376 (GRCm39) |
S678F |
probably damaging |
Het |
Npc1l1 |
A |
T |
11: 6,178,157 (GRCm39) |
S418T |
probably benign |
Het |
Nprl2 |
A |
G |
9: 107,421,995 (GRCm39) |
D257G |
probably damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,542 (GRCm39) |
V76D |
probably damaging |
Het |
Pard3b |
A |
G |
1: 62,383,294 (GRCm39) |
D796G |
probably benign |
Het |
Pcf11 |
T |
C |
7: 92,302,451 (GRCm39) |
T1220A |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,187,785 (GRCm39) |
I3508V |
possibly damaging |
Het |
Ppargc1a |
A |
T |
5: 51,647,570 (GRCm39) |
S258T |
probably damaging |
Het |
Prom1 |
A |
G |
5: 44,159,135 (GRCm39) |
Y830H |
probably damaging |
Het |
Ptprm |
T |
A |
17: 67,051,732 (GRCm39) |
H1001L |
probably damaging |
Het |
Rab8b |
A |
G |
9: 66,826,807 (GRCm39) |
F37L |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
A |
T |
5: 142,070,278 (GRCm39) |
I1148F |
probably damaging |
Het |
Sec62 |
A |
G |
3: 30,864,621 (GRCm39) |
K162E |
unknown |
Het |
Serpinb13 |
A |
T |
1: 106,928,519 (GRCm39) |
I380F |
probably damaging |
Het |
Sptb |
T |
C |
12: 76,634,186 (GRCm39) |
D2175G |
probably benign |
Het |
St3gal6 |
T |
C |
16: 58,314,095 (GRCm39) |
I13V |
probably benign |
Het |
Tfpi2 |
A |
T |
6: 3,967,996 (GRCm39) |
L48H |
probably damaging |
Het |
Tmem121b |
T |
A |
6: 120,469,707 (GRCm39) |
I337F |
probably damaging |
Het |
Tpbgl |
T |
C |
7: 99,275,182 (GRCm39) |
D225G |
probably benign |
Het |
Trpa1 |
A |
G |
1: 14,959,664 (GRCm39) |
V674A |
probably benign |
Het |
Trpa1 |
A |
G |
1: 14,963,563 (GRCm39) |
L553P |
probably damaging |
Het |
Tyrp1 |
T |
C |
4: 80,755,798 (GRCm39) |
V189A |
probably damaging |
Het |
Vmn1r19 |
G |
T |
6: 57,381,991 (GRCm39) |
M181I |
probably benign |
Het |
Vmn2r10 |
T |
C |
5: 109,149,791 (GRCm39) |
T418A |
probably benign |
Het |
Zfp617 |
A |
G |
8: 72,686,927 (GRCm39) |
Y419C |
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 |
|
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 |
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'- AGACGACTGCCCAGATCTTC -3'
(R):5'- GGATTCCTCAGTGGCGACATTC -3'
Sequencing Primer
(F):5'- GCCCAGATCTTCAAGACTGTG -3'
(R):5'- AGTGGCGACATTCTCTGTTC -3'
|
Posted On |
2021-08-02 |