Incidental Mutation 'R9200:Mmrn1'
| ID |
698161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmrn1
|
| Ensembl Gene |
ENSMUSG00000054641 |
| Gene Name |
multimerin 1 |
| Synonyms |
Emilin4, 4921530G03Rik |
| MMRRC Submission |
068957-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9200 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
60921301-60966362 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60953860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 714
(T714A)
|
| 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: T714A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: T714A
| 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: T714A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: T714A
| 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 |
99% (71/72) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
C |
A |
7: 119,179,839 (GRCm39) |
Y352* |
probably null |
Het |
| Adh7 |
C |
T |
3: 137,927,567 (GRCm39) |
R38C |
probably benign |
Het |
| Ankrd2 |
A |
T |
19: 42,028,871 (GRCm39) |
T145S |
|
Het |
| Anpep |
T |
C |
7: 79,490,870 (GRCm39) |
N241D |
probably benign |
Het |
| Apaf1 |
G |
A |
10: 90,845,102 (GRCm39) |
L990F |
probably benign |
Het |
| Arsi |
A |
G |
18: 61,049,836 (GRCm39) |
T240A |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,521,787 (GRCm39) |
E434G |
possibly damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,474,999 (GRCm39) |
K535* |
probably null |
Het |
| B3galt4 |
A |
G |
17: 34,170,384 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
C |
G |
16: 95,839,154 (GRCm39) |
C839S |
probably benign |
Het |
| Cars1 |
C |
T |
7: 143,129,654 (GRCm39) |
|
probably null |
Het |
| Catsperd |
T |
A |
17: 56,935,229 (GRCm39) |
V14D |
unknown |
Het |
| Ccdc150 |
A |
C |
1: 54,299,197 (GRCm39) |
T58P |
probably damaging |
Het |
| Cdhr17 |
T |
C |
5: 17,006,659 (GRCm39) |
|
probably null |
Het |
| Cdon |
A |
G |
9: 35,414,617 (GRCm39) |
D1164G |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cic |
A |
C |
7: 24,971,940 (GRCm39) |
D557A |
probably damaging |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Dach1 |
G |
T |
14: 98,065,743 (GRCm39) |
R695S |
probably damaging |
Het |
| Ddc |
T |
C |
11: 11,765,388 (GRCm39) |
N428S |
possibly damaging |
Het |
| Dnah6 |
G |
A |
6: 73,004,497 (GRCm39) |
T3822I |
probably benign |
Het |
| Dnmt1 |
T |
A |
9: 20,819,896 (GRCm39) |
M1535L |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,617,051 (GRCm39) |
|
probably null |
Het |
| Emilin2 |
A |
G |
17: 71,581,229 (GRCm39) |
I499T |
possibly damaging |
Het |
| Etl4 |
A |
G |
2: 20,786,702 (GRCm39) |
D766G |
probably damaging |
Het |
| Fes |
T |
C |
7: 80,032,140 (GRCm39) |
Q414R |
probably benign |
Het |
| Fhod1 |
A |
G |
8: 106,058,072 (GRCm39) |
V844A |
probably benign |
Het |
| Fshr |
A |
T |
17: 89,354,103 (GRCm39) |
V85E |
probably benign |
Het |
| Gc |
T |
C |
5: 89,593,236 (GRCm39) |
N61S |
probably benign |
Het |
| Hapstr1 |
T |
C |
16: 8,673,898 (GRCm39) |
L275P |
possibly damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Itga1 |
A |
T |
13: 115,104,997 (GRCm39) |
I1059N |
possibly damaging |
Het |
| Itpr3 |
T |
A |
17: 27,326,636 (GRCm39) |
V1426E |
probably damaging |
Het |
| Jag1 |
T |
A |
2: 136,929,044 (GRCm39) |
Y804F |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,605,297 (GRCm39) |
T1084A |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,760,791 (GRCm39) |
D4952G |
probably benign |
Het |
| Nab1 |
T |
A |
1: 52,529,525 (GRCm39) |
H124L |
possibly damaging |
Het |
| Nacc2 |
A |
G |
2: 25,980,118 (GRCm39) |
F106S |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,320,425 (GRCm39) |
I2006T |
probably damaging |
Het |
| Nkpd1 |
C |
A |
7: 19,257,683 (GRCm39) |
H487Q |
probably benign |
Het |
| Nop2 |
G |
A |
6: 125,117,843 (GRCm39) |
|
probably null |
Het |
| Or10ag54 |
T |
A |
2: 87,100,055 (GRCm39) |
M310K |
probably benign |
Het |
| Or5b124 |
A |
G |
19: 13,610,595 (GRCm39) |
N40S |
probably damaging |
Het |
| Otud6b |
A |
T |
4: 14,811,712 (GRCm39) |
Y310* |
probably null |
Het |
| Phyh |
A |
T |
2: 4,932,247 (GRCm39) |
Y111F |
probably benign |
Het |
| Pon3 |
A |
G |
6: 5,240,863 (GRCm39) |
L106P |
probably benign |
Het |
| Ppp6r3 |
T |
C |
19: 3,519,748 (GRCm39) |
D615G |
probably damaging |
Het |
| Pramel23 |
G |
A |
4: 143,423,856 (GRCm39) |
P311L |
possibly damaging |
Het |
| Prdm10 |
G |
A |
9: 31,268,438 (GRCm39) |
V796I |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,523,153 (GRCm39) |
V1192F |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Rab39 |
T |
C |
9: 53,597,665 (GRCm39) |
N200S |
probably benign |
Het |
| Rcc2 |
A |
G |
4: 140,445,664 (GRCm39) |
I441V |
probably benign |
Het |
| Rxra |
G |
A |
2: 27,627,496 (GRCm39) |
V72I |
possibly damaging |
Het |
| Ryr1 |
T |
G |
7: 28,794,524 (GRCm39) |
Q1252P |
probably benign |
Het |
| Sectm1a |
T |
C |
11: 120,960,473 (GRCm39) |
Y114C |
probably damaging |
Het |
| Smim1 |
T |
C |
4: 154,108,276 (GRCm39) |
|
probably null |
Het |
| Smpd2 |
C |
T |
10: 41,363,561 (GRCm39) |
D301N |
probably benign |
Het |
| Smyd3 |
T |
C |
1: 179,232,963 (GRCm39) |
D139G |
probably benign |
Het |
| Sox13 |
C |
T |
1: 133,313,743 (GRCm39) |
C399Y |
probably damaging |
Het |
| Tars3 |
A |
G |
7: 65,302,013 (GRCm39) |
E179G |
probably benign |
Het |
| Tas2r138 |
A |
G |
6: 40,589,494 (GRCm39) |
F251L |
probably damaging |
Het |
| Tesk1 |
A |
G |
4: 43,447,307 (GRCm39) |
E565G |
probably damaging |
Het |
| Tm2d1 |
A |
T |
4: 98,246,200 (GRCm39) |
F201I |
possibly damaging |
Het |
| Tom1l2 |
C |
A |
11: 60,120,942 (GRCm39) |
D501Y |
probably benign |
Het |
| Trim39 |
G |
T |
17: 36,579,667 (GRCm39) |
T96K |
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,436,971 (GRCm39) |
H196R |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,257,352 (GRCm39) |
E1206G |
possibly damaging |
Het |
| Usp17lc |
A |
T |
7: 103,068,105 (GRCm39) |
T467S |
probably benign |
Het |
| Vmn1r128 |
T |
C |
7: 21,083,316 (GRCm39) |
S7P |
possibly damaging |
Het |
| Vmn1r185 |
T |
A |
7: 26,311,073 (GRCm39) |
H144L |
possibly damaging |
Het |
| Wfdc6b |
A |
T |
2: 164,455,708 (GRCm39) |
R12S |
possibly damaging |
Het |
| Zmynd8 |
A |
T |
2: 165,682,005 (GRCm39) |
D175E |
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 |
|
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'- TCGCAGAGAGCTACAAAACCTG -3'
(R):5'- CGCTGTAAGGGCTTTAGCAATTTG -3'
Sequencing Primer
(F):5'- TGATCGGTGCCATCAACC -3'
(R):5'- TCTCTTTGTTATTGACCAAAGTCTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation