Incidental Mutation 'R5876:Matr3'
| ID |
455560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Matr3
|
| Ensembl Gene |
ENSMUSG00000037236 |
| Gene Name |
matrin 3 |
| Synonyms |
D030046F20Rik, 2810017I02Rik, 1110061A14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R5876 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
35695191-35726888 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35720791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 413
(D413E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166793]
[ENSMUST00000186796]
[ENSMUST00000187389]
[ENSMUST00000188275]
[ENSMUST00000188767]
[ENSMUST00000190029]
[ENSMUST00000190121]
[ENSMUST00000190653]
|
| AlphaFold |
Q8K310 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166793
AA Change: D751E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125761
Gene: ENSMUSG00000037236
AA Change: D751E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
|
ZnF_U1
|
288 |
322 |
4.47e-6 |
SMART |
|
ZnF_C2H2
|
291 |
315 |
2.12e1 |
SMART |
|
low complexity region
|
351 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
386 |
N/A |
INTRINSIC |
|
RRM
|
399 |
469 |
7.74e-3 |
SMART |
|
RRM
|
497 |
567 |
5.63e-9 |
SMART |
|
low complexity region
|
650 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
710 |
718 |
N/A |
INTRINSIC |
|
ZnF_U1
|
797 |
832 |
1.87e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186796
AA Change: D413E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140128
Gene: ENSMUSG00000037236
AA Change: D413E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
48 |
N/A |
INTRINSIC |
|
RRM
|
61 |
131 |
3.2e-5 |
SMART |
|
RRM
|
159 |
229 |
2.4e-11 |
SMART |
|
low complexity region
|
312 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
380 |
N/A |
INTRINSIC |
|
ZnF_U1
|
459 |
494 |
1.1e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187389
AA Change: D751E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139745
Gene: ENSMUSG00000037236
AA Change: D751E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
|
ZnF_U1
|
288 |
322 |
4.47e-6 |
SMART |
|
ZnF_C2H2
|
291 |
315 |
2.12e1 |
SMART |
|
low complexity region
|
351 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
386 |
N/A |
INTRINSIC |
|
RRM
|
399 |
469 |
7.74e-3 |
SMART |
|
RRM
|
497 |
567 |
5.63e-9 |
SMART |
|
low complexity region
|
650 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
710 |
718 |
N/A |
INTRINSIC |
|
ZnF_U1
|
797 |
832 |
1.87e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188275
AA Change: D463E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140401
Gene: ENSMUSG00000037236
AA Change: D463E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
98 |
N/A |
INTRINSIC |
|
RRM
|
111 |
181 |
3.2e-5 |
SMART |
|
RRM
|
209 |
279 |
2.4e-11 |
SMART |
|
low complexity region
|
362 |
387 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
430 |
N/A |
INTRINSIC |
|
ZnF_U1
|
509 |
544 |
1.1e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188767
|
| SMART Domains |
Protein: ENSMUSP00000141027
Gene: ENSMUSG00000037236
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
48 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190029
AA Change: D751E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140846
Gene: ENSMUSG00000037236
AA Change: D751E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
|
ZnF_U1
|
288 |
322 |
4.47e-6 |
SMART |
|
ZnF_C2H2
|
291 |
315 |
2.12e1 |
SMART |
|
low complexity region
|
351 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
386 |
N/A |
INTRINSIC |
|
RRM
|
399 |
469 |
7.74e-3 |
SMART |
|
RRM
|
497 |
567 |
5.63e-9 |
SMART |
|
low complexity region
|
650 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
710 |
718 |
N/A |
INTRINSIC |
|
ZnF_U1
|
797 |
832 |
1.87e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190121
AA Change: D413E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140853
Gene: ENSMUSG00000037236
AA Change: D413E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
48 |
N/A |
INTRINSIC |
|
RRM
|
61 |
131 |
3.2e-5 |
SMART |
|
RRM
|
159 |
229 |
2.4e-11 |
SMART |
|
low complexity region
|
312 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
380 |
N/A |
INTRINSIC |
|
ZnF_U1
|
459 |
494 |
1.1e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190653
AA Change: D413E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141135
Gene: ENSMUSG00000037236
AA Change: D413E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
48 |
N/A |
INTRINSIC |
|
RRM
|
61 |
131 |
3.2e-5 |
SMART |
|
RRM
|
159 |
229 |
2.4e-11 |
SMART |
|
low complexity region
|
312 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
380 |
N/A |
INTRINSIC |
|
ZnF_U1
|
459 |
494 |
1.1e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a gene-trapped allele are early embryonic lethal. Heterozygotes show congenital heart defects including abnormal heart apex morphology, subaortic ventricular septal defects, double-outlet right ventricle, bicuspid aortic valve, aorta coarctation, and patent ductus arteriosus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034E13Rik |
A |
G |
18: 52,796,654 (GRCm39) |
D64G |
possibly damaging |
Het |
| Ano2 |
T |
A |
6: 126,016,242 (GRCm39) |
M925K |
possibly damaging |
Het |
| Arnt2 |
T |
C |
7: 83,996,720 (GRCm39) |
T69A |
probably damaging |
Het |
| Asap2 |
T |
A |
12: 21,262,810 (GRCm39) |
N229K |
possibly damaging |
Het |
| Atp13a3 |
T |
A |
16: 30,181,552 (GRCm39) |
N23Y |
probably benign |
Het |
| Cbr4 |
G |
A |
8: 61,943,627 (GRCm39) |
G91R |
possibly damaging |
Het |
| Cdc27 |
A |
T |
11: 104,406,244 (GRCm39) |
C624S |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,360,845 (GRCm39) |
I201N |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,869,209 (GRCm39) |
Y645C |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,321,259 (GRCm39) |
V518I |
probably damaging |
Het |
| Clca4b |
T |
C |
3: 144,617,821 (GRCm39) |
T761A |
possibly damaging |
Het |
| Cpne4 |
C |
A |
9: 104,802,969 (GRCm39) |
S204R |
probably damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,740,849 (GRCm39) |
W1279R |
probably damaging |
Het |
| Dennd4a |
C |
T |
9: 64,819,037 (GRCm39) |
P1731S |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,004,051 (GRCm39) |
V892D |
possibly damaging |
Het |
| Fam131b |
A |
G |
6: 42,298,182 (GRCm39) |
|
probably null |
Het |
| Fam83b |
T |
A |
9: 76,399,132 (GRCm39) |
D657V |
possibly damaging |
Het |
| Fam83e |
T |
A |
7: 45,371,787 (GRCm39) |
|
probably null |
Het |
| Fbxo4 |
A |
T |
15: 4,007,301 (GRCm39) |
I121N |
probably damaging |
Het |
| Gabrg2 |
A |
G |
11: 41,859,647 (GRCm39) |
S202P |
probably damaging |
Het |
| Grid2 |
T |
A |
6: 64,640,146 (GRCm39) |
I788N |
probably damaging |
Het |
| Grik4 |
T |
A |
9: 42,599,319 (GRCm39) |
N53Y |
probably damaging |
Het |
| Hipk2 |
A |
C |
6: 38,707,802 (GRCm39) |
|
probably null |
Het |
| Hps5 |
T |
C |
7: 46,438,620 (GRCm39) |
T38A |
probably damaging |
Het |
| Hs1bp3 |
A |
G |
12: 8,391,843 (GRCm39) |
D315G |
possibly damaging |
Het |
| Kdm4a |
C |
T |
4: 117,996,073 (GRCm39) |
M985I |
probably damaging |
Het |
| Kdm5d |
A |
G |
Y: 900,525 (GRCm39) |
Y190C |
probably damaging |
Het |
| Krt86 |
T |
C |
15: 101,374,491 (GRCm39) |
S295P |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,164,657 (GRCm39) |
F319L |
probably damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,560,910 (GRCm39) |
Y411N |
probably damaging |
Het |
| Mpdz |
C |
A |
4: 81,203,711 (GRCm39) |
E1863* |
probably null |
Het |
| Mrps9 |
A |
G |
1: 42,934,538 (GRCm39) |
E173G |
probably damaging |
Het |
| Or7a42 |
A |
T |
10: 78,791,191 (GRCm39) |
I51F |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,850,528 (GRCm39) |
T692A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,441,984 (GRCm39) |
H3641L |
possibly damaging |
Het |
| Pml |
T |
C |
9: 58,140,465 (GRCm39) |
T421A |
possibly damaging |
Het |
| Podxl |
A |
G |
6: 31,505,391 (GRCm39) |
|
probably null |
Het |
| Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
| Prkag3 |
A |
G |
1: 74,787,975 (GRCm39) |
|
probably benign |
Het |
| Proz |
A |
G |
8: 13,123,448 (GRCm39) |
R240G |
probably benign |
Het |
| Ptpn13 |
C |
A |
5: 103,624,826 (GRCm39) |
D43E |
probably damaging |
Het |
| Rbm5 |
T |
G |
9: 107,637,525 (GRCm39) |
K135N |
probably damaging |
Het |
| Ska1 |
G |
A |
18: 74,330,599 (GRCm39) |
T201M |
probably damaging |
Het |
| Slc35f5 |
A |
C |
1: 125,515,100 (GRCm39) |
|
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,309,842 (GRCm39) |
L510P |
probably damaging |
Het |
| Speer4a2 |
T |
C |
5: 26,289,716 (GRCm39) |
E237G |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,082,828 (GRCm39) |
K1231E |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,813,439 (GRCm39) |
S1628P |
possibly damaging |
Het |
| Tm9sf3 |
T |
A |
19: 41,229,023 (GRCm39) |
D260V |
probably damaging |
Het |
| Ttc9 |
G |
T |
12: 81,678,396 (GRCm39) |
R73L |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,917,207 (GRCm39) |
I3684V |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,280,189 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
T |
A |
1: 37,115,520 (GRCm39) |
I328N |
probably damaging |
Het |
| Wdr1 |
C |
T |
5: 38,687,366 (GRCm39) |
V222M |
probably benign |
Het |
| Xpnpep1 |
T |
A |
19: 52,985,439 (GRCm39) |
T530S |
probably damaging |
Het |
| Zc3h6 |
C |
T |
2: 128,835,197 (GRCm39) |
S111F |
probably benign |
Het |
| Zfp768 |
G |
A |
7: 126,943,718 (GRCm39) |
P137S |
probably benign |
Het |
|
| Other mutations in Matr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01396:Matr3
|
APN |
18 |
35,721,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03083:Matr3
|
APN |
18 |
35,705,471 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03117:Matr3
|
APN |
18 |
35,705,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03163:Matr3
|
APN |
18 |
35,705,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03381:Matr3
|
APN |
18 |
35,712,078 (GRCm39) |
splice site |
probably benign |
|
|
R0456:Matr3
|
UTSW |
18 |
35,705,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1136:Matr3
|
UTSW |
18 |
35,705,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Matr3
|
UTSW |
18 |
35,717,709 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1850:Matr3
|
UTSW |
18 |
35,715,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Matr3
|
UTSW |
18 |
35,721,378 (GRCm39) |
splice site |
probably benign |
|
|
R2185:Matr3
|
UTSW |
18 |
35,714,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2366:Matr3
|
UTSW |
18 |
35,721,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Matr3
|
UTSW |
18 |
35,705,349 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2870:Matr3
|
UTSW |
18 |
35,705,349 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2871:Matr3
|
UTSW |
18 |
35,705,349 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2871:Matr3
|
UTSW |
18 |
35,705,349 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2872:Matr3
|
UTSW |
18 |
35,705,349 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2872:Matr3
|
UTSW |
18 |
35,705,349 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2873:Matr3
|
UTSW |
18 |
35,705,349 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3908:Matr3
|
UTSW |
18 |
35,705,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4400:Matr3
|
UTSW |
18 |
35,716,969 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4417:Matr3
|
UTSW |
18 |
35,705,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Matr3
|
UTSW |
18 |
35,714,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Matr3
|
UTSW |
18 |
35,714,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4881:Matr3
|
UTSW |
18 |
35,705,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Matr3
|
UTSW |
18 |
35,705,754 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5084:Matr3
|
UTSW |
18 |
35,715,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5660:Matr3
|
UTSW |
18 |
35,705,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5709:Matr3
|
UTSW |
18 |
35,715,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5779:Matr3
|
UTSW |
18 |
35,717,575 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6392:Matr3
|
UTSW |
18 |
35,717,894 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7062:Matr3
|
UTSW |
18 |
35,712,072 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7156:Matr3
|
UTSW |
18 |
35,705,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7228:Matr3
|
UTSW |
18 |
35,695,537 (GRCm39) |
missense |
unknown |
|
|
R7389:Matr3
|
UTSW |
18 |
35,717,638 (GRCm39) |
missense |
probably benign |
|
|
R8940:Matr3
|
UTSW |
18 |
35,705,640 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9071:Matr3
|
UTSW |
18 |
35,705,803 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9159:Matr3
|
UTSW |
18 |
35,712,355 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9205:Matr3
|
UTSW |
18 |
35,720,774 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9587:Matr3
|
UTSW |
18 |
35,717,876 (GRCm39) |
missense |
probably null |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAGGTTTTATACATGTTAGGAAAG -3'
(R):5'- TCACCAGGGGATATAACTTTATACAC -3'
Sequencing Primer
(F):5'- GTGGACAAGATTGAGGAACT -3'
(R):5'- TTAGGCTGATATGGTCCG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation