Incidental Mutation 'IGL03163:Matr3'
ID |
411506 |
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: 0.959)
|
Stock # |
IGL03163
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
35695191-35726888 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 35705644 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 190
(D190N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141189
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166793]
[ENSMUST00000186292]
[ENSMUST00000186614]
[ENSMUST00000186796]
[ENSMUST00000187389]
[ENSMUST00000190029]
[ENSMUST00000188275]
[ENSMUST00000189039]
[ENSMUST00000189163]
[ENSMUST00000188767]
[ENSMUST00000187793]
[ENSMUST00000190121]
[ENSMUST00000187543]
[ENSMUST00000188359]
[ENSMUST00000190458]
[ENSMUST00000187513]
[ENSMUST00000190653]
|
AlphaFold |
Q8K310 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166793
AA Change: D190N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125761 Gene: ENSMUSG00000037236 AA Change: D190N
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: ENSMUST00000186292
|
SMART Domains |
Protein: ENSMUSP00000139437 Gene: ENSMUSG00000037236
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
32 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186295
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186614
AA Change: D190N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141189 Gene: ENSMUSG00000037236 AA Change: D190N
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 damaging
Transcript: ENSMUST00000187389
AA Change: D190N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139745 Gene: ENSMUSG00000037236 AA Change: D190N
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 damaging
Transcript: ENSMUST00000190029
AA Change: D190N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140846 Gene: ENSMUSG00000037236 AA Change: D190N
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: ENSMUST00000187980
|
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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189163
|
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: 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: 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: ENSMUST00000187543
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188359
|
SMART Domains |
Protein: ENSMUSP00000140148 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190458
|
SMART Domains |
Protein: ENSMUSP00000139922 Gene: ENSMUSG00000099703
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
32 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187513
|
SMART Domains |
Protein: ENSMUSP00000139875 Gene: ENSMUSG00000099703
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190570
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193225
|
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 |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
T |
A |
12: 80,228,191 (GRCm39) |
D393V |
probably benign |
Het |
Amz2 |
C |
A |
11: 109,319,751 (GRCm39) |
Q46K |
probably benign |
Het |
Ankhd1 |
G |
A |
18: 36,780,681 (GRCm39) |
R1911H |
probably damaging |
Het |
Apba3 |
A |
G |
10: 81,105,057 (GRCm39) |
|
probably null |
Het |
Atxn1l |
T |
C |
8: 110,459,017 (GRCm39) |
N415S |
probably damaging |
Het |
Clu |
C |
T |
14: 66,217,235 (GRCm39) |
S356F |
probably benign |
Het |
Cluh |
T |
C |
11: 74,556,894 (GRCm39) |
V1029A |
probably benign |
Het |
Creb3 |
C |
T |
4: 43,566,315 (GRCm39) |
L274F |
probably damaging |
Het |
Dcaf8 |
T |
C |
1: 172,000,475 (GRCm39) |
V211A |
probably damaging |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
Fam131c |
T |
C |
4: 141,110,069 (GRCm39) |
F156L |
probably damaging |
Het |
Fbxw21 |
T |
A |
9: 108,974,552 (GRCm39) |
I323F |
probably benign |
Het |
Fmo9 |
A |
G |
1: 166,502,019 (GRCm39) |
V202A |
possibly damaging |
Het |
Gipr |
C |
T |
7: 18,896,481 (GRCm39) |
W205* |
probably null |
Het |
Gm13941 |
A |
T |
2: 110,928,761 (GRCm39) |
I99K |
unknown |
Het |
Gpr22 |
A |
T |
12: 31,759,171 (GRCm39) |
V317E |
possibly damaging |
Het |
Hace1 |
T |
C |
10: 45,548,701 (GRCm39) |
I582T |
probably damaging |
Het |
Iho1 |
G |
T |
9: 108,282,132 (GRCm39) |
L519I |
probably benign |
Het |
Khdrbs1 |
T |
C |
4: 129,619,508 (GRCm39) |
E211G |
probably benign |
Het |
Lonrf1 |
T |
C |
8: 36,697,484 (GRCm39) |
D500G |
probably benign |
Het |
Lrp2 |
A |
C |
2: 69,331,870 (GRCm39) |
Y1628* |
probably null |
Het |
Lrrc40 |
T |
C |
3: 157,747,224 (GRCm39) |
I112T |
possibly damaging |
Het |
Or8c16 |
T |
C |
9: 38,130,710 (GRCm39) |
V194A |
probably benign |
Het |
Ptpn13 |
A |
T |
5: 103,739,212 (GRCm39) |
D2326V |
probably damaging |
Het |
Ptpn3 |
T |
C |
4: 57,222,020 (GRCm39) |
D557G |
probably damaging |
Het |
Rangap1 |
A |
T |
15: 81,600,801 (GRCm39) |
N194K |
probably damaging |
Het |
Rasgef1c |
T |
C |
11: 49,862,200 (GRCm39) |
V363A |
possibly damaging |
Het |
Ric8b |
A |
G |
10: 84,837,686 (GRCm39) |
N498D |
probably damaging |
Het |
Scn1a |
A |
C |
2: 66,148,418 (GRCm39) |
D22E |
probably benign |
Het |
Spc25 |
T |
G |
2: 69,027,548 (GRCm39) |
I115L |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,461,266 (GRCm39) |
H3569R |
probably benign |
Het |
Stra6l |
T |
C |
4: 45,881,455 (GRCm39) |
I439T |
probably benign |
Het |
Trappc12 |
G |
T |
12: 28,796,653 (GRCm39) |
P293Q |
probably damaging |
Het |
Trcg1 |
T |
C |
9: 57,155,630 (GRCm39) |
L761P |
possibly damaging |
Het |
Usp15 |
A |
C |
10: 123,007,049 (GRCm39) |
M144R |
probably damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,201,692 (GRCm39) |
I271V |
probably benign |
Het |
Zcchc2 |
T |
C |
1: 105,958,841 (GRCm39) |
V1104A |
probably damaging |
Het |
Zftraf1 |
A |
T |
15: 76,543,474 (GRCm39) |
L13Q |
probably damaging |
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 |
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 |
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 |