Incidental Mutation 'R8472:Mmrn1'
| ID |
657066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmrn1
|
| Ensembl Gene |
ENSMUSG00000054641 |
| Gene Name |
multimerin 1 |
| Synonyms |
Emilin4, 4921530G03Rik |
| MMRRC Submission |
067916-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8472 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
60921301-60966362 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 60965380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 1136
(S1136N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145156
(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: S1137N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: S1137N
| 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: S1136N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: S1136N
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,246,568 (GRCm39) |
H21Q |
possibly damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,754,138 (GRCm39) |
S152P |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,833,608 (GRCm39) |
S222P |
probably damaging |
Het |
| Cdcp2 |
C |
T |
4: 106,959,981 (GRCm39) |
A132V |
probably damaging |
Het |
| Cnksr3 |
G |
T |
10: 7,084,532 (GRCm39) |
P71Q |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,247,057 (GRCm39) |
P185L |
probably damaging |
Het |
| Cpm |
T |
C |
10: 117,515,883 (GRCm39) |
V319A |
probably damaging |
Het |
| Ctxn2 |
A |
G |
2: 124,989,528 (GRCm39) |
I52V |
possibly damaging |
Het |
| Cyp2c66 |
A |
T |
19: 39,165,021 (GRCm39) |
H334L |
probably benign |
Het |
| Dab1 |
A |
G |
4: 104,336,439 (GRCm39) |
K12E |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 104,709,463 (GRCm39) |
D1815V |
probably benign |
Het |
| Emsy |
T |
C |
7: 98,304,037 (GRCm39) |
|
probably benign |
Het |
| Etv4 |
G |
T |
11: 101,674,827 (GRCm39) |
D56E |
probably damaging |
Het |
| Exoc3l2 |
C |
T |
7: 19,215,190 (GRCm39) |
R484* |
probably null |
Het |
| Extl1 |
A |
G |
4: 134,098,603 (GRCm39) |
C143R |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,286,563 (GRCm39) |
I987V |
possibly damaging |
Het |
| Fbn1 |
A |
C |
2: 125,151,722 (GRCm39) |
C2511G |
probably damaging |
Het |
| Fer |
T |
A |
17: 64,280,144 (GRCm39) |
S72T |
probably benign |
Het |
| Gdf2 |
A |
G |
14: 33,666,797 (GRCm39) |
D173G |
probably damaging |
Het |
| Grhl3 |
T |
C |
4: 135,284,176 (GRCm39) |
E222G |
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,218,410 (GRCm39) |
M819L |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,427,432 (GRCm39) |
R187* |
probably null |
Het |
| Heatr6 |
A |
G |
11: 83,656,679 (GRCm39) |
N314D |
probably benign |
Het |
| Hspd1 |
T |
C |
1: 55,117,505 (GRCm39) |
D555G |
probably benign |
Het |
| Ighv3-4 |
T |
C |
12: 114,217,649 (GRCm39) |
Y8C |
probably benign |
Het |
| Lcmt2 |
A |
G |
2: 120,970,729 (GRCm39) |
V118A |
probably damaging |
Het |
| Lmf2 |
T |
C |
15: 89,239,005 (GRCm39) |
E37G |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,346,795 (GRCm39) |
L1161P |
probably damaging |
Het |
| Mbip |
T |
A |
12: 56,377,054 (GRCm39) |
|
probably null |
Het |
| Mgam |
A |
T |
6: 40,671,460 (GRCm39) |
|
probably null |
Het |
| Mms22l |
T |
C |
4: 24,502,943 (GRCm39) |
V73A |
possibly damaging |
Het |
| Mtbp |
C |
T |
15: 55,449,748 (GRCm39) |
L24F |
probably damaging |
Het |
| Ncr1 |
T |
A |
7: 4,341,120 (GRCm39) |
I37N |
probably benign |
Het |
| Nkx3-1 |
A |
G |
14: 69,429,507 (GRCm39) |
N175S |
probably damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,342,145 (GRCm39) |
I500T |
possibly damaging |
Het |
| Or10a3 |
T |
A |
7: 108,479,973 (GRCm39) |
Q280L |
possibly damaging |
Het |
| Or1e1f |
C |
T |
11: 73,856,223 (GRCm39) |
S263L |
possibly damaging |
Het |
| Or6c33 |
A |
G |
10: 129,853,445 (GRCm39) |
T72A |
probably damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,074,325 (GRCm39) |
D652G |
probably damaging |
Het |
| Pde6a |
T |
A |
18: 61,354,018 (GRCm39) |
N114K |
probably damaging |
Het |
| Pdp2 |
A |
G |
8: 105,320,913 (GRCm39) |
E254G |
probably benign |
Het |
| Pip5kl1 |
T |
C |
2: 32,470,018 (GRCm39) |
V241A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,469,400 (GRCm39) |
D168E |
probably damaging |
Het |
| Psg27 |
A |
T |
7: 18,296,015 (GRCm39) |
H143Q |
probably benign |
Het |
| Serpina16 |
T |
A |
12: 103,638,796 (GRCm39) |
I264F |
probably benign |
Het |
| Slc25a41 |
G |
A |
17: 57,348,582 (GRCm39) |
H4Y |
probably benign |
Het |
| Slco1a8 |
T |
G |
6: 141,949,115 (GRCm39) |
H87P |
probably damaging |
Het |
| Smc3 |
T |
G |
19: 53,617,142 (GRCm39) |
H518Q |
probably benign |
Het |
| Snrpb |
G |
T |
2: 130,015,042 (GRCm39) |
T158K |
probably damaging |
Het |
| Sobp |
A |
G |
10: 42,898,392 (GRCm39) |
F398L |
probably damaging |
Het |
| Spidr |
T |
A |
16: 15,958,591 (GRCm39) |
Q57L |
probably benign |
Het |
| Srd5a3 |
T |
G |
5: 76,297,648 (GRCm39) |
V26G |
possibly damaging |
Het |
| Stx17 |
A |
G |
4: 48,166,972 (GRCm39) |
T131A |
probably benign |
Het |
| Susd1 |
A |
G |
4: 59,332,985 (GRCm39) |
L553P |
possibly damaging |
Het |
| Tbc1d30 |
C |
A |
10: 121,187,009 (GRCm39) |
G59C |
probably benign |
Het |
| Tekt1 |
T |
C |
11: 72,242,850 (GRCm39) |
D219G |
possibly damaging |
Het |
| Trav9d-1 |
A |
T |
14: 53,030,163 (GRCm39) |
D89V |
possibly damaging |
Het |
| Trim34b |
T |
C |
7: 103,980,545 (GRCm39) |
I211T |
probably benign |
Het |
| Vmn1r25 |
A |
T |
6: 57,955,531 (GRCm39) |
L253M |
possibly damaging |
Het |
| Vmn1r56 |
C |
T |
7: 5,198,904 (GRCm39) |
V238M |
probably damaging |
Het |
| Wipf3 |
A |
G |
6: 54,466,070 (GRCm39) |
I443V |
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 |
|
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'- ACAGATATGCTCCGATGGTGG -3'
(R):5'- GGTGCGATATAACAAGTAACCACTG -3'
Sequencing Primer
(F):5'- GGTGGCGTTTTTCGTATCTCACAC -3'
(R):5'- CACTGAACGTGGTCACAGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation