Incidental Mutation 'IGL03381:Matr3'
| ID |
420713 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Matr3
|
| Ensembl Gene |
ENSMUSG00000037236 |
| Gene Name |
matrin 3 |
| Synonyms |
D030046F20Rik, 2810017I02Rik, 1110061A14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
IGL03381
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
35695191-35726888 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 35712078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166793]
[ENSMUST00000186614]
[ENSMUST00000186796]
[ENSMUST00000187389]
[ENSMUST00000187793]
[ENSMUST00000188275]
[ENSMUST00000190029]
[ENSMUST00000190121]
[ENSMUST00000188767]
[ENSMUST00000190653]
[ENSMUST00000189163]
[ENSMUST00000189039]
|
| AlphaFold |
Q8K310 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166793
|
| SMART Domains |
Protein: ENSMUSP00000125761
Gene: ENSMUSG00000037236
| 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 |
noncoding transcript
Transcript: ENSMUST00000186158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186614
|
| SMART Domains |
Protein: ENSMUSP00000141189
Gene: ENSMUSG00000037236
| 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 |
2.6e-8 |
SMART |
|
ZnF_C2H2
|
291 |
315 |
8.8e-2 |
SMART |
|
low complexity region
|
351 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186796
|
| SMART Domains |
Protein: ENSMUSP00000140128
Gene: ENSMUSG00000037236
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139745
Gene: ENSMUSG00000037236
| 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 |
probably benign
Transcript: ENSMUST00000188275
|
| SMART Domains |
Protein: ENSMUSP00000140401
Gene: ENSMUSG00000037236
| 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: ENSMUST00000190029
|
| SMART Domains |
Protein: ENSMUSP00000140846
Gene: ENSMUSG00000037236
| 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
|
| SMART Domains |
Protein: ENSMUSP00000140853
Gene: ENSMUSG00000037236
| 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: 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: ENSMUST00000190653
|
| SMART Domains |
Protein: ENSMUSP00000141135
Gene: ENSMUSG00000037236
| 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 |
noncoding transcript
Transcript: ENSMUST00000193225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189019
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189163
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189039
|
| SMART Domains |
Protein: ENSMUSP00000139525
Gene: ENSMUSG00000037236
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_U1
|
36 |
70 |
2.6e-8 |
SMART |
|
ZnF_C2H2
|
39 |
63 |
8.8e-2 |
SMART |
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330017A19Rik |
T |
C |
17: 47,200,812 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
T |
C |
7: 120,127,041 (GRCm39) |
F1243S |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,666,086 (GRCm39) |
V1990A |
probably damaging |
Het |
| Arhgdib |
G |
A |
6: 136,909,314 (GRCm39) |
T69I |
probably benign |
Het |
| Atf2 |
G |
A |
2: 73,659,012 (GRCm39) |
A214V |
probably benign |
Het |
| Ccr2 |
G |
A |
9: 123,906,409 (GRCm39) |
V230I |
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,959,482 (GRCm39) |
E384G |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,191 (GRCm39) |
D271V |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,339 (GRCm39) |
F250S |
probably damaging |
Het |
| Gzmf |
A |
T |
14: 56,444,450 (GRCm39) |
V41E |
probably benign |
Het |
| H2-T10 |
C |
T |
17: 36,430,246 (GRCm39) |
D232N |
probably benign |
Het |
| H2-T10 |
T |
A |
17: 36,430,249 (GRCm39) |
K231* |
probably null |
Het |
| Hsd3b6 |
A |
G |
3: 98,715,128 (GRCm39) |
V88A |
possibly damaging |
Het |
| Kit |
C |
T |
5: 75,767,788 (GRCm39) |
T57M |
probably benign |
Het |
| Klhl22 |
A |
G |
16: 17,610,591 (GRCm39) |
D614G |
possibly damaging |
Het |
| Mff |
A |
G |
1: 82,719,661 (GRCm39) |
Y213C |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,090,417 (GRCm39) |
T194A |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,537 (GRCm39) |
F431L |
probably damaging |
Het |
| Mttp |
G |
A |
3: 137,810,704 (GRCm39) |
R637C |
probably damaging |
Het |
| Nlrc3 |
A |
G |
16: 3,782,179 (GRCm39) |
V410A |
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,001,523 (GRCm39) |
I11T |
possibly damaging |
Het |
| Or52a5b |
T |
C |
7: 103,417,044 (GRCm39) |
I187V |
probably benign |
Het |
| Or5b108 |
T |
A |
19: 13,168,769 (GRCm39) |
V246D |
probably damaging |
Het |
| Pramel21 |
T |
C |
4: 143,343,625 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,404,022 (GRCm39) |
T2A |
probably benign |
Het |
| Rbm33 |
T |
C |
5: 28,599,390 (GRCm39) |
F921L |
unknown |
Het |
| Rhbdl2 |
T |
C |
4: 123,716,610 (GRCm39) |
V189A |
possibly damaging |
Het |
| Rpap2 |
C |
T |
5: 107,768,067 (GRCm39) |
P302S |
probably benign |
Het |
| Sec23ip |
T |
A |
7: 128,352,029 (GRCm39) |
V32D |
probably damaging |
Het |
| Sh3yl1 |
T |
C |
12: 30,976,836 (GRCm39) |
I47T |
possibly damaging |
Het |
| Spmip4 |
T |
C |
6: 50,566,116 (GRCm39) |
S120G |
probably damaging |
Het |
| Tenm2 |
A |
C |
11: 35,959,238 (GRCm39) |
S1104A |
probably benign |
Het |
| Ufd1 |
A |
G |
16: 18,644,507 (GRCm39) |
D190G |
probably damaging |
Het |
| Ugt1a7c |
T |
C |
1: 88,023,512 (GRCm39) |
F224L |
probably benign |
Het |
| Utp20 |
G |
T |
10: 88,657,867 (GRCm39) |
F64L |
probably damaging |
Het |
| Vmn1r198 |
A |
G |
13: 22,539,006 (GRCm39) |
Y164C |
probably benign |
Het |
| Wdcp |
T |
A |
12: 4,901,926 (GRCm39) |
V594D |
probably damaging |
Het |
| Xirp2 |
A |
C |
2: 67,344,570 (GRCm39) |
E2270D |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation