Incidental Mutation 'R7652:Mmrn1'
| ID |
590909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmrn1
|
| Ensembl Gene |
ENSMUSG00000054641 |
| Gene Name |
multimerin 1 |
| Synonyms |
Emilin4, 4921530G03Rik |
| MMRRC Submission |
045729-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7652 (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 60954490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 924
(N924D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119609
(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: N924D
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: N924D
| 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: N924D
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: N924D
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,253,675 (GRCm39) |
|
probably null |
Het |
| Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
| Anxa2r2 |
A |
T |
13: 120,488,529 (GRCm39) |
S7T |
possibly damaging |
Het |
| Aph1b |
T |
C |
9: 66,691,823 (GRCm39) |
T195A |
probably benign |
Het |
| Apoe |
G |
T |
7: 19,430,535 (GRCm39) |
R236S |
possibly damaging |
Het |
| Arap3 |
G |
T |
18: 38,111,505 (GRCm39) |
T1137K |
probably damaging |
Het |
| Arhgap45 |
C |
T |
10: 79,864,672 (GRCm39) |
A908V |
probably benign |
Het |
| Atp13a1 |
T |
C |
8: 70,258,209 (GRCm39) |
C965R |
probably damaging |
Het |
| C7 |
A |
G |
15: 5,041,587 (GRCm39) |
Y440H |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,401,397 (GRCm39) |
|
probably null |
Het |
| Ddah2 |
C |
A |
17: 35,280,026 (GRCm39) |
R173S |
possibly damaging |
Het |
| Dnajc11 |
T |
C |
4: 152,058,682 (GRCm39) |
Y337H |
probably damaging |
Het |
| Dnajc25 |
A |
G |
4: 59,020,483 (GRCm39) |
K302R |
probably benign |
Het |
| Dnajc6 |
A |
T |
4: 101,463,874 (GRCm39) |
Q209L |
probably damaging |
Het |
| Drosha |
G |
A |
15: 12,859,522 (GRCm39) |
V577I |
probably benign |
Het |
| Ebf2 |
G |
T |
14: 67,628,016 (GRCm39) |
|
probably null |
Het |
| Epx |
A |
G |
11: 87,766,160 (GRCm39) |
|
probably null |
Het |
| Eqtn |
T |
C |
4: 94,816,574 (GRCm39) |
Y73C |
probably damaging |
Het |
| Fam107b |
A |
G |
2: 3,773,884 (GRCm39) |
N21S |
probably benign |
Het |
| Fasn |
G |
A |
11: 120,707,154 (GRCm39) |
S857F |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
| Gas8 |
A |
G |
8: 124,253,275 (GRCm39) |
I208V |
probably benign |
Het |
| Gm3269 |
T |
C |
14: 16,026,209 (GRCm39) |
I88T |
probably benign |
Het |
| Gm8005 |
C |
A |
14: 42,258,919 (GRCm39) |
L136F |
|
Het |
| Grid2ip |
C |
A |
5: 143,368,393 (GRCm39) |
P743Q |
probably damaging |
Het |
| H2-T15 |
A |
T |
17: 36,367,675 (GRCm39) |
V221D |
probably damaging |
Het |
| Hbs1l |
C |
T |
10: 21,240,659 (GRCm39) |
T626I |
probably benign |
Het |
| Hdac3 |
T |
A |
18: 38,087,972 (GRCm39) |
|
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,496,400 (GRCm39) |
Y94C |
probably damaging |
Het |
| Homer2 |
T |
C |
7: 81,299,414 (GRCm39) |
D17G |
probably damaging |
Het |
| Ikbke |
C |
T |
1: 131,199,569 (GRCm39) |
R308Q |
probably damaging |
Het |
| Ints10 |
A |
G |
8: 69,277,771 (GRCm39) |
T682A |
possibly damaging |
Het |
| Klhl3 |
G |
A |
13: 58,261,146 (GRCm39) |
|
probably benign |
Het |
| Klk1b9 |
A |
T |
7: 43,445,514 (GRCm39) |
T235S |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,520,717 (GRCm39) |
T1798A |
probably benign |
Het |
| Kri1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTCCTCCTC |
9: 21,192,352 (GRCm39) |
|
probably benign |
Het |
| Krtap4-6 |
T |
C |
11: 99,556,440 (GRCm39) |
I96V |
unknown |
Het |
| Lef1 |
A |
C |
3: 130,994,003 (GRCm39) |
R354S |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,488,208 (GRCm39) |
L296* |
probably null |
Het |
| Maml2 |
T |
C |
9: 13,532,945 (GRCm39) |
Y720H |
|
Het |
| Myh7b |
A |
G |
2: 155,474,156 (GRCm39) |
K1624E |
probably damaging |
Het |
| Nos3 |
T |
A |
5: 24,588,610 (GRCm39) |
V1112D |
probably damaging |
Het |
| Or2y14 |
T |
C |
11: 49,404,512 (GRCm39) |
F16L |
probably damaging |
Het |
| Or4c111 |
C |
T |
2: 88,843,893 (GRCm39) |
V172I |
probably benign |
Het |
| Or5an1b |
C |
A |
19: 12,299,651 (GRCm39) |
C180F |
probably damaging |
Het |
| Or5w13 |
A |
G |
2: 87,523,704 (GRCm39) |
I174T |
probably damaging |
Het |
| Or6c70 |
A |
T |
10: 129,710,346 (GRCm39) |
N93K |
probably damaging |
Het |
| Phospho1 |
T |
C |
11: 95,721,645 (GRCm39) |
L105S |
probably damaging |
Het |
| Prss35 |
T |
A |
9: 86,638,023 (GRCm39) |
N264K |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,677,578 (GRCm39) |
D732G |
probably benign |
Het |
| Rab18 |
A |
T |
18: 6,783,123 (GRCm39) |
T64S |
possibly damaging |
Het |
| Rft1 |
A |
G |
14: 30,399,773 (GRCm39) |
Q319R |
probably benign |
Het |
| Rgs7 |
T |
A |
1: 174,921,396 (GRCm39) |
M220L |
probably benign |
Het |
| Rnf13 |
A |
G |
3: 57,671,772 (GRCm39) |
N28S |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,078,548 (GRCm39) |
I311N |
probably damaging |
Het |
| Setd5 |
G |
A |
6: 113,098,725 (GRCm39) |
R786H |
probably damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,733,143 (GRCm39) |
|
probably null |
Het |
| Slc26a9 |
A |
T |
1: 131,691,634 (GRCm39) |
T626S |
probably benign |
Het |
| Stambp |
A |
T |
6: 83,540,910 (GRCm39) |
|
probably null |
Het |
| Stom |
A |
T |
2: 35,206,041 (GRCm39) |
N229K |
probably benign |
Het |
| Tlr1 |
A |
T |
5: 65,084,130 (GRCm39) |
L149* |
probably null |
Het |
| Trpc3 |
C |
A |
3: 36,692,677 (GRCm39) |
V772F |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,893,102 (GRCm39) |
|
probably benign |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,369 (GRCm39) |
F207I |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,746,884 (GRCm39) |
D360E |
possibly damaging |
Het |
| Vmn2r96 |
T |
G |
17: 18,793,832 (GRCm39) |
S59A |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 8,108,700 (GRCm39) |
C149R |
probably benign |
Het |
| Wnt3 |
A |
G |
11: 103,703,290 (GRCm39) |
T258A |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,739,371 (GRCm39) |
T965A |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
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'- TCGTTTGCAAGGCATTGAATC -3'
(R):5'- GGCTTGACAATATTTGCCAGAG -3'
Sequencing Primer
(F):5'- TGCAAGGCATTGAATCTAAAGTGACC -3'
(R):5'- CCAGAGTGTCAGATAACAATCGGTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation