Incidental Mutation 'R2185:Matr3'
ID |
237848 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Matr3
|
Ensembl Gene |
ENSMUSG00000037236 |
Gene Name |
matrin 3 |
Synonyms |
D030046F20Rik, 2810017I02Rik, 1110061A14Rik |
MMRRC Submission |
040187-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.959)
|
Stock # |
R2185 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
35695191-35726888 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35714278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 75
(Y75C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166793]
[ENSMUST00000186614]
[ENSMUST00000186796]
[ENSMUST00000187389]
[ENSMUST00000187793]
[ENSMUST00000188767]
[ENSMUST00000188275]
[ENSMUST00000190653]
[ENSMUST00000190029]
[ENSMUST00000190121]
[ENSMUST00000189163]
[ENSMUST00000189039]
|
AlphaFold |
Q8K310 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166793
AA Change: Y413C
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125761 Gene: ENSMUSG00000037236 AA Change: Y413C
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 damaging
Transcript: ENSMUST00000186796
AA Change: Y75C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000140128 Gene: ENSMUSG00000037236 AA Change: Y75C
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: Y413C
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139745 Gene: ENSMUSG00000037236 AA Change: Y413C
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: ENSMUST00000187793
AA Change: Y75C
PolyPhen 2
Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000140047 Gene: ENSMUSG00000099703 AA Change: Y75C
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 |
unknown
Transcript: ENSMUST00000188767
AA Change: I72M
|
SMART Domains |
Protein: ENSMUSP00000141027 Gene: ENSMUSG00000037236 AA Change: I72M
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 damaging
Transcript: ENSMUST00000188275
AA Change: Y125C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140401 Gene: ENSMUSG00000037236 AA Change: Y125C
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 damaging
Transcript: ENSMUST00000190653
AA Change: Y75C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000141135 Gene: ENSMUSG00000037236 AA Change: Y75C
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: ENSMUST00000190029
AA Change: Y413C
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140846 Gene: ENSMUSG00000037236 AA Change: Y413C
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: ENSMUST00000190121
AA Change: Y75C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000140853 Gene: ENSMUSG00000037236 AA Change: Y75C
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: ENSMUST00000189019
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193225
|
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 |
|
Meta Mutation Damage Score |
0.1947 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (48/48) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
C |
5: 138,561,829 (GRCm39) |
D119G |
probably damaging |
Het |
Abca1 |
A |
G |
4: 53,089,830 (GRCm39) |
M427T |
probably benign |
Het |
Ankra2 |
T |
C |
13: 98,402,912 (GRCm39) |
F53S |
probably damaging |
Het |
Ano3 |
T |
C |
2: 110,605,390 (GRCm39) |
E272G |
probably benign |
Het |
Aqr |
C |
T |
2: 113,961,015 (GRCm39) |
|
probably null |
Het |
Ccdc168 |
G |
A |
1: 44,100,541 (GRCm39) |
H186Y |
probably benign |
Het |
Cibar1 |
A |
T |
4: 12,169,041 (GRCm39) |
|
probably benign |
Het |
Clca4b |
T |
C |
3: 144,634,317 (GRCm39) |
Y92C |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,902,002 (GRCm39) |
N2374K |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,794,256 (GRCm39) |
I664L |
probably benign |
Het |
Ctnnd1 |
A |
T |
2: 84,442,892 (GRCm39) |
D626E |
probably damaging |
Het |
Dnai3 |
A |
G |
3: 145,772,619 (GRCm39) |
S476P |
possibly damaging |
Het |
Eml2 |
A |
G |
7: 18,927,953 (GRCm39) |
Y254C |
probably damaging |
Het |
Gabrr3 |
T |
C |
16: 59,255,031 (GRCm39) |
S239P |
probably damaging |
Het |
Gen1 |
T |
C |
12: 11,311,041 (GRCm39) |
T64A |
probably null |
Het |
Gm14399 |
C |
A |
2: 174,973,188 (GRCm39) |
C189F |
probably damaging |
Het |
Gm9476 |
T |
G |
10: 100,143,040 (GRCm39) |
|
noncoding transcript |
Het |
Kcnh5 |
A |
T |
12: 75,177,705 (GRCm39) |
F134I |
possibly damaging |
Het |
Kdm4b |
G |
C |
17: 56,700,750 (GRCm39) |
A474P |
probably benign |
Het |
Kif2b |
TTCTCTCTCT |
TTCTCTCT |
11: 91,467,797 (GRCm39) |
|
probably null |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lrrc28 |
C |
T |
7: 67,195,201 (GRCm39) |
R203Q |
possibly damaging |
Het |
Lrrc8e |
G |
T |
8: 4,284,986 (GRCm39) |
E404* |
probably null |
Het |
Macf1 |
A |
T |
4: 123,369,349 (GRCm39) |
M239K |
probably damaging |
Het |
Mamdc4 |
A |
G |
2: 25,459,704 (GRCm39) |
|
probably null |
Het |
Myo19 |
T |
C |
11: 84,783,047 (GRCm39) |
V187A |
probably benign |
Het |
Ncbp2 |
A |
G |
16: 31,775,195 (GRCm39) |
D116G |
probably damaging |
Het |
Or1d2 |
A |
T |
11: 74,255,572 (GRCm39) |
I26F |
probably benign |
Het |
Or4p8 |
A |
C |
2: 88,727,047 (GRCm39) |
V298G |
probably damaging |
Het |
Or56a3 |
T |
A |
7: 104,735,509 (GRCm39) |
D195E |
possibly damaging |
Het |
Or9g3 |
T |
C |
2: 85,590,363 (GRCm39) |
Y119C |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,359,827 (GRCm39) |
M894K |
possibly damaging |
Het |
Prpf8 |
C |
T |
11: 75,377,939 (GRCm39) |
R8* |
probably null |
Het |
Prss12 |
T |
A |
3: 123,280,793 (GRCm39) |
S493T |
probably benign |
Het |
Ptov1 |
T |
G |
7: 44,516,707 (GRCm39) |
|
probably benign |
Het |
Rfpl4 |
A |
T |
7: 5,118,499 (GRCm39) |
L24M |
probably damaging |
Het |
Rundc1 |
C |
A |
11: 101,316,157 (GRCm39) |
D76E |
probably benign |
Het |
Slc5a11 |
G |
T |
7: 122,872,421 (GRCm39) |
A673S |
probably damaging |
Het |
Smg5 |
T |
C |
3: 88,258,868 (GRCm39) |
M613T |
probably benign |
Het |
Swt1 |
T |
A |
1: 151,260,219 (GRCm39) |
H677L |
probably damaging |
Het |
Tas2r107 |
T |
C |
6: 131,636,566 (GRCm39) |
N161S |
probably damaging |
Het |
Trp73 |
A |
T |
4: 154,189,274 (GRCm39) |
|
probably null |
Het |
Tsr1 |
A |
G |
11: 74,792,906 (GRCm39) |
I405V |
probably damaging |
Het |
Ttll4 |
A |
G |
1: 74,718,988 (GRCm39) |
T280A |
possibly damaging |
Het |
Ube2q2 |
A |
G |
9: 55,102,366 (GRCm39) |
|
probably null |
Het |
Usp5 |
T |
C |
6: 124,794,373 (GRCm39) |
E769G |
probably damaging |
Het |
Vmn2r68 |
T |
A |
7: 84,882,901 (GRCm39) |
K284* |
probably null |
Het |
Zfp963 |
C |
A |
8: 70,195,561 (GRCm39) |
K297N |
probably benign |
Het |
Zfp975 |
C |
A |
7: 42,311,105 (GRCm39) |
A503S |
possibly 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTTTATGCTTACTATGTGCTAAG -3'
(R):5'- CCACAGTGTTCAAGCTGAAATTTAC -3'
Sequencing Primer
(F):5'- GCTAAGTATTATATACTGCTGTCTGG -3'
(R):5'- AGTGTTCAAGCTGAAATTTACTTAGG -3'
|
Posted On |
2014-10-02 |