Incidental Mutation 'R5779:Matr3'
| ID |
446902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Matr3
|
| Ensembl Gene |
ENSMUSG00000037236 |
| Gene Name |
matrin 3 |
| Synonyms |
D030046F20Rik, 2810017I02Rik, 1110061A14Rik |
| MMRRC Submission |
043377-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R5779 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
35695191-35726888 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35717575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 258
(S258P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166793]
[ENSMUST00000186796]
[ENSMUST00000187389]
[ENSMUST00000187793]
[ENSMUST00000188275]
[ENSMUST00000188767]
[ENSMUST00000190029]
[ENSMUST00000190121]
[ENSMUST00000190653]
|
| AlphaFold |
Q8K310 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166793
AA Change: S596P
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000125761
Gene: ENSMUSG00000037236
AA Change: S596P
| 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 |
possibly damaging
Transcript: ENSMUST00000186796
AA Change: S258P
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140128
Gene: ENSMUSG00000037236
AA Change: S258P
| 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: S596P
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000139745
Gene: ENSMUSG00000037236
AA Change: S596P
| 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: ENSMUST00000187793
|
| SMART Domains |
Protein: ENSMUSP00000140047
Gene: ENSMUSG00000099703
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
23 |
N/A |
INTRINSIC |
|
SCOP:d1lvk_2
|
42 |
78 |
4e-3 |
SMART |
|
PDB:1X4D|A
|
52 |
102 |
4e-30 |
PDB |
|
Blast:RRM
|
61 |
102 |
1e-22 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188275
AA Change: S308P
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140401
Gene: ENSMUSG00000037236
AA Change: S308P
| 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 |
noncoding transcript
Transcript: ENSMUST00000189019
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190029
AA Change: S596P
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140846
Gene: ENSMUSG00000037236
AA Change: S596P
| 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 |
possibly damaging
Transcript: ENSMUST00000190121
AA Change: S258P
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140853
Gene: ENSMUSG00000037236
AA Change: S258P
| 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: S258P
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000141135
Gene: ENSMUSG00000037236
AA Change: S258P
| 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 |
|
| Meta Mutation Damage Score |
0.0651 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
88% (52/59) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,075,496 (GRCm39) |
M1332V |
probably benign |
Het |
| Acsbg3 |
A |
T |
17: 57,188,061 (GRCm39) |
N190Y |
probably benign |
Het |
| Afg3l2 |
T |
C |
18: 67,573,513 (GRCm39) |
K132R |
probably null |
Het |
| Antkmt |
A |
G |
17: 26,009,631 (GRCm39) |
V194A |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,117,418 (GRCm39) |
D886G |
probably damaging |
Het |
| B3gntl1 |
G |
T |
11: 121,542,502 (GRCm39) |
|
probably null |
Het |
| Cdk12 |
T |
A |
11: 98,109,900 (GRCm39) |
S640R |
probably benign |
Het |
| Ceacam12 |
C |
A |
7: 17,803,079 (GRCm39) |
P162T |
probably benign |
Het |
| Chrna5 |
C |
A |
9: 54,905,388 (GRCm39) |
H67N |
probably benign |
Het |
| Copb1 |
T |
A |
7: 113,818,807 (GRCm39) |
D837V |
probably damaging |
Het |
| Dcaf5 |
C |
T |
12: 80,385,606 (GRCm39) |
R840H |
probably benign |
Het |
| Ect2l |
T |
A |
10: 18,039,186 (GRCm39) |
Q324L |
probably benign |
Het |
| Eef1e1 |
T |
C |
13: 38,830,249 (GRCm39) |
N141S |
probably damaging |
Het |
| Eif2ak4 |
A |
C |
2: 118,243,444 (GRCm39) |
N208T |
possibly damaging |
Het |
| Ext1 |
A |
G |
15: 53,207,949 (GRCm39) |
Y271H |
probably damaging |
Het |
| Fbxo5 |
G |
A |
10: 5,750,303 (GRCm39) |
R323C |
possibly damaging |
Het |
| Fpr-rs3 |
C |
A |
17: 20,844,488 (GRCm39) |
A218S |
possibly damaging |
Het |
| Gm20499 |
G |
A |
5: 114,955,082 (GRCm39) |
|
probably benign |
Het |
| Gm57859 |
A |
G |
11: 113,578,818 (GRCm39) |
D71G |
probably benign |
Het |
| Gucy1b2 |
C |
A |
14: 62,651,750 (GRCm39) |
L400F |
possibly damaging |
Het |
| Hgd |
T |
A |
16: 37,413,733 (GRCm39) |
L24H |
probably benign |
Het |
| Hmx3 |
C |
A |
7: 131,146,057 (GRCm39) |
S255* |
probably null |
Het |
| Ifrd1 |
A |
T |
12: 40,253,369 (GRCm39) |
F448I |
probably damaging |
Het |
| Igfn1 |
T |
A |
1: 135,894,578 (GRCm39) |
E1996V |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,329,104 (GRCm39) |
G173R |
probably damaging |
Het |
| Kbtbd8 |
T |
C |
6: 95,095,515 (GRCm39) |
S26P |
probably benign |
Het |
| Kctd17 |
A |
T |
15: 78,321,333 (GRCm39) |
|
probably benign |
Het |
| Mpp4 |
G |
A |
1: 59,190,825 (GRCm39) |
A90V |
probably benign |
Het |
| Mrpl20 |
G |
A |
4: 155,891,378 (GRCm39) |
R34Q |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,135,313 (GRCm39) |
S3266T |
probably damaging |
Het |
| Nipal3 |
A |
G |
4: 135,179,650 (GRCm39) |
|
probably benign |
Het |
| Npas2 |
A |
T |
1: 39,326,652 (GRCm39) |
T46S |
possibly damaging |
Het |
| Nsd3 |
G |
T |
8: 26,172,685 (GRCm39) |
E815* |
probably null |
Het |
| Nup98 |
C |
A |
7: 101,801,568 (GRCm39) |
V786L |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,203 (GRCm39) |
M157K |
possibly damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,434,520 (GRCm39) |
V162A |
probably benign |
Het |
| Pcgf2 |
G |
A |
11: 97,581,117 (GRCm39) |
P58L |
probably damaging |
Het |
| Penk |
A |
G |
4: 4,134,318 (GRCm39) |
F110L |
probably damaging |
Het |
| Relch |
T |
G |
1: 105,615,072 (GRCm39) |
N246K |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,478,312 (GRCm39) |
N508S |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,594,827 (GRCm39) |
V1892A |
probably benign |
Het |
| Sema6a |
G |
A |
18: 47,381,893 (GRCm39) |
R885C |
probably damaging |
Het |
| Sik2 |
T |
C |
9: 50,807,145 (GRCm39) |
H755R |
probably benign |
Het |
| Slc36a3 |
A |
T |
11: 55,026,094 (GRCm39) |
Y241* |
probably null |
Het |
| Smg5 |
T |
C |
3: 88,258,925 (GRCm39) |
|
probably benign |
Het |
| Spag9 |
A |
G |
11: 94,005,079 (GRCm39) |
T1049A |
probably benign |
Het |
| Tas2r103 |
T |
C |
6: 133,013,908 (GRCm39) |
M53V |
probably benign |
Het |
| Tpr |
C |
T |
1: 150,299,292 (GRCm39) |
A1090V |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,729,633 (GRCm39) |
R473W |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,175,707 (GRCm39) |
|
probably null |
Het |
| Vit |
A |
G |
17: 78,853,855 (GRCm39) |
T34A |
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 |
|
R5876:Matr3
|
UTSW |
18 |
35,720,791 (GRCm39) |
missense |
probably benign |
|
|
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'- AATCCCGGTAATTTGATTTTGCTTG -3'
(R):5'- TTCAAGAAGCATGCTGGGCTC -3'
Sequencing Primer
(F):5'- GGTCACATCACATCTATAGTCGGG -3'
(R):5'- AGCATGCTGGGCTCCTGTTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation