Incidental Mutation 'IGL02544:Mtx1'
| ID |
297744 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtx1
|
| Ensembl Gene |
ENSMUSG00000064068 |
| Gene Name |
metaxin 1 |
| Synonyms |
Gcap6 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.386)
|
| Stock # |
IGL02544
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89116388-89121214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 89117703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 30
(W30L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029682]
[ENSMUST00000073572]
[ENSMUST00000077367]
[ENSMUST00000118964]
[ENSMUST00000119084]
[ENSMUST00000152789]
[ENSMUST00000167998]
[ENSMUST00000142051]
[ENSMUST00000174126]
[ENSMUST00000197738]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029682
|
| SMART Domains |
Protein: ENSMUSP00000029682
Gene: ENSMUSG00000028047
| Domain | Start | End | E-Value | Type |
|---|
|
TSPN
|
21 |
193 |
4.71e-56 |
SMART |
|
Pfam:COMP
|
226 |
270 |
2.5e-22 |
PFAM |
|
EGF
|
277 |
315 |
8.19e-2 |
SMART |
|
EGF_CA
|
316 |
369 |
6.91e-9 |
SMART |
|
EGF_CA
|
370 |
413 |
1.38e-8 |
SMART |
|
EGF
|
417 |
456 |
1.99e0 |
SMART |
|
Pfam:TSP_3
|
492 |
527 |
1e-12 |
PFAM |
|
Pfam:TSP_3
|
551 |
586 |
2.2e-16 |
PFAM |
|
Pfam:TSP_3
|
586 |
609 |
6.6e-7 |
PFAM |
|
Pfam:TSP_3
|
610 |
647 |
2.6e-14 |
PFAM |
|
Pfam:TSP_3
|
648 |
687 |
2.4e-10 |
PFAM |
|
Pfam:TSP_3
|
688 |
723 |
4.2e-15 |
PFAM |
|
Pfam:TSP_C
|
741 |
938 |
3.3e-99 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073572
AA Change: W270L
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073261
Gene: ENSMUSG00000064068
AA Change: W270L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
94 |
109 |
N/A |
INTRINSIC |
|
Pfam:Tom37
|
151 |
219 |
4.2e-21 |
PFAM |
|
Pfam:Tom37_C
|
239 |
317 |
8.1e-24 |
PFAM |
|
Pfam:GST_C_3
|
267 |
383 |
1.7e-11 |
PFAM |
|
Pfam:GST_C_2
|
270 |
377 |
2.7e-8 |
PFAM |
|
Pfam:Tom37_C
|
300 |
369 |
1.1e-14 |
PFAM |
|
low complexity region
|
396 |
415 |
N/A |
INTRINSIC |
|
transmembrane domain
|
416 |
438 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077367
|
| SMART Domains |
Protein: ENSMUSP00000076589
Gene: ENSMUSG00000028048
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_30
|
20 |
512 |
1.4e-252 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118964
AA Change: W239L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114009
Gene: ENSMUSG00000064068
AA Change: W239L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
94 |
109 |
N/A |
INTRINSIC |
|
Pfam:Tom37
|
151 |
219 |
5.9e-21 |
PFAM |
|
Pfam:Tom37_C
|
216 |
287 |
6.3e-19 |
PFAM |
|
Pfam:GST_C_3
|
216 |
352 |
5.1e-11 |
PFAM |
|
Pfam:GST_C_2
|
238 |
344 |
1.9e-8 |
PFAM |
|
Pfam:Tom37_C
|
269 |
338 |
9.5e-15 |
PFAM |
|
low complexity region
|
365 |
384 |
N/A |
INTRINSIC |
|
transmembrane domain
|
385 |
407 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119084
|
| SMART Domains |
Protein: ENSMUSP00000112912
Gene: ENSMUSG00000028047
| Domain | Start | End | E-Value | Type |
|---|
|
TSPN
|
21 |
193 |
4.71e-56 |
SMART |
|
Pfam:COMP
|
226 |
270 |
8.2e-26 |
PFAM |
|
EGF
|
277 |
315 |
8.19e-2 |
SMART |
|
EGF_CA
|
316 |
369 |
6.91e-9 |
SMART |
|
EGF_CA
|
370 |
413 |
1.38e-8 |
SMART |
|
Pfam:TSP_3
|
455 |
490 |
4.4e-13 |
PFAM |
|
Pfam:TSP_3
|
514 |
549 |
9.3e-17 |
PFAM |
|
Pfam:TSP_3
|
549 |
572 |
2.8e-7 |
PFAM |
|
Pfam:TSP_3
|
573 |
610 |
1.1e-14 |
PFAM |
|
Pfam:TSP_3
|
611 |
650 |
1e-10 |
PFAM |
|
Pfam:TSP_3
|
651 |
686 |
1.8e-15 |
PFAM |
|
Pfam:TSP_C
|
704 |
904 |
7.9e-108 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000119222
AA Change: W168L
|
| SMART Domains |
Protein: ENSMUSP00000113986
Gene: ENSMUSG00000064068
AA Change: W168L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tom37
|
12 |
57 |
1.6e-11 |
PFAM |
|
Pfam:Tom37_C
|
138 |
216 |
5.4e-24 |
PFAM |
|
Pfam:GST_C_3
|
166 |
282 |
1.1e-11 |
PFAM |
|
Pfam:GST_C_2
|
169 |
276 |
1.8e-8 |
PFAM |
|
Pfam:Tom37_C
|
199 |
268 |
7.2e-15 |
PFAM |
|
low complexity region
|
295 |
314 |
N/A |
INTRINSIC |
|
transmembrane domain
|
315 |
337 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124086
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152789
AA Change: W30L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173239
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000173593
AA Change: W132L
|
| SMART Domains |
Protein: ENSMUSP00000133866
Gene: ENSMUSG00000064068
AA Change: W132L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tom37
|
14 |
82 |
1.1e-21 |
PFAM |
|
Pfam:Tom37_C
|
102 |
178 |
3.4e-24 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000173477
AA Change: W107L
|
| SMART Domains |
Protein: ENSMUSP00000133282
Gene: ENSMUSG00000064068
AA Change: W107L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tom37
|
1 |
58 |
8.5e-16 |
PFAM |
|
Pfam:Tom37_C
|
77 |
155 |
9.7e-24 |
PFAM |
|
Pfam:GST_C_3
|
104 |
221 |
8.2e-12 |
PFAM |
|
Pfam:GST_C_2
|
107 |
216 |
7.5e-9 |
PFAM |
|
Pfam:Tom37_C
|
138 |
207 |
1.3e-14 |
PFAM |
|
low complexity region
|
234 |
253 |
N/A |
INTRINSIC |
|
transmembrane domain
|
254 |
276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138249
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126315
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167998
|
| SMART Domains |
Protein: ENSMUSP00000130660
Gene: ENSMUSG00000028048
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_30
|
20 |
512 |
1.4e-252 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173465
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142051
|
| SMART Domains |
Protein: ENSMUSP00000116136
Gene: ENSMUSG00000028047
| Domain | Start | End | E-Value | Type |
|---|
|
TSPN
|
1 |
124 |
2.52e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173475
|
| SMART Domains |
Protein: ENSMUSP00000134110
Gene: ENSMUSG00000064068
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
116 |
N/A |
INTRINSIC |
|
transmembrane domain
|
117 |
139 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129055
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174126
AA Change: W30L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133291
Gene: ENSMUSG00000064068
AA Change: W30L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tom37_C
|
1 |
74 |
7.6e-23 |
PFAM |
|
Pfam:GST_C_3
|
7 |
143 |
7.3e-12 |
PFAM |
|
Pfam:GST_C_2
|
26 |
137 |
2.8e-9 |
PFAM |
|
Pfam:Tom37_C
|
61 |
129 |
6.2e-15 |
PFAM |
|
low complexity region
|
159 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199915
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196887
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197738
|
| SMART Domains |
Protein: ENSMUSP00000142401
Gene: ENSMUSG00000028048
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_30
|
20 |
388 |
1e-186 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
C |
5: 77,049,961 (GRCm39) |
S12A |
probably benign |
Het |
| Abcb5 |
A |
T |
12: 118,870,003 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
G |
A |
4: 155,976,867 (GRCm39) |
E6K |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,488,594 (GRCm39) |
I946K |
possibly damaging |
Het |
| Arid1a |
A |
G |
4: 133,409,059 (GRCm39) |
V1816A |
unknown |
Het |
| Cacna1c |
C |
T |
6: 118,728,440 (GRCm39) |
G335R |
probably damaging |
Het |
| Ccnh |
C |
A |
13: 85,350,460 (GRCm39) |
Y118* |
probably null |
Het |
| Cep76 |
C |
T |
18: 67,768,020 (GRCm39) |
|
probably benign |
Het |
| Cyp2c65 |
T |
C |
19: 39,079,082 (GRCm39) |
V387A |
probably damaging |
Het |
| Dapk1 |
T |
G |
13: 60,899,031 (GRCm39) |
S834A |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,449,402 (GRCm39) |
S367P |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,681,091 (GRCm39) |
I474T |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,876,069 (GRCm39) |
R2579H |
probably benign |
Het |
| Dnajc16 |
T |
C |
4: 141,491,958 (GRCm39) |
N622D |
probably damaging |
Het |
| Eif3c |
G |
T |
7: 126,146,784 (GRCm39) |
S799* |
probably null |
Het |
| Fbxo9 |
A |
G |
9: 77,994,541 (GRCm39) |
Y259H |
probably damaging |
Het |
| Fpr-rs4 |
A |
T |
17: 18,242,473 (GRCm39) |
H160L |
probably benign |
Het |
| Galc |
A |
T |
12: 98,197,701 (GRCm39) |
V336D |
probably benign |
Het |
| Matcap1 |
C |
T |
8: 106,010,092 (GRCm39) |
V286M |
probably benign |
Het |
| Mfrp |
T |
C |
9: 44,014,091 (GRCm39) |
L153P |
probably damaging |
Het |
| Mysm1 |
A |
T |
4: 94,840,543 (GRCm39) |
D624E |
probably damaging |
Het |
| Naa16 |
A |
G |
14: 79,573,260 (GRCm39) |
F837L |
probably damaging |
Het |
| Or10ag56 |
C |
T |
2: 87,139,471 (GRCm39) |
R113C |
possibly damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,848 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or2ag1 |
T |
C |
7: 106,313,742 (GRCm39) |
I49V |
probably benign |
Het |
| Or5h25 |
A |
T |
16: 58,930,507 (GRCm39) |
H155Q |
probably damaging |
Het |
| Pde4d |
G |
T |
13: 109,877,057 (GRCm39) |
D137Y |
probably damaging |
Het |
| Pik3r1 |
G |
T |
13: 101,823,784 (GRCm39) |
R534S |
probably damaging |
Het |
| Pira12 |
T |
A |
7: 3,900,185 (GRCm39) |
Y139F |
probably damaging |
Het |
| Plekha5 |
A |
C |
6: 140,535,454 (GRCm39) |
E239A |
possibly damaging |
Het |
| Psap |
G |
T |
10: 60,136,405 (GRCm39) |
|
probably benign |
Het |
| Rap2b |
T |
C |
3: 61,272,560 (GRCm39) |
F28S |
probably damaging |
Het |
| Rfc5 |
A |
T |
5: 117,524,931 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,815,024 (GRCm39) |
D175N |
probably benign |
Het |
| Sbno1 |
T |
G |
5: 124,542,046 (GRCm39) |
I370L |
probably damaging |
Het |
| Slc17a6 |
T |
A |
7: 51,315,903 (GRCm39) |
C390* |
probably null |
Het |
| Srsf7 |
A |
T |
17: 80,511,620 (GRCm39) |
|
probably benign |
Het |
| Tbc1d10c |
C |
T |
19: 4,237,959 (GRCm39) |
D272N |
probably benign |
Het |
| Tll2 |
A |
G |
19: 41,124,404 (GRCm39) |
F204L |
probably damaging |
Het |
| Tmc1 |
T |
A |
19: 20,884,327 (GRCm39) |
T38S |
probably benign |
Het |
| Tmem184b |
A |
T |
15: 79,250,007 (GRCm39) |
I256K |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,859,780 (GRCm39) |
R365W |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,142,429 (GRCm39) |
P1339S |
probably damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,317,293 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mtx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02189:Mtx1
|
APN |
3 |
89,116,624 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1677:Mtx1
|
UTSW |
3 |
89,116,648 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4944:Mtx1
|
UTSW |
3 |
89,121,205 (GRCm39) |
missense |
probably benign |
|
|
R6006:Mtx1
|
UTSW |
3 |
89,117,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7684:Mtx1
|
UTSW |
3 |
89,117,739 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7690:Mtx1
|
UTSW |
3 |
89,120,088 (GRCm39) |
missense |
|
|
|
R7820:Mtx1
|
UTSW |
3 |
89,121,315 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8376:Mtx1
|
UTSW |
3 |
89,121,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8939:Mtx1
|
UTSW |
3 |
89,120,033 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9486:Mtx1
|
UTSW |
3 |
89,120,163 (GRCm39) |
missense |
|
|
|
Z1177:Mtx1
|
UTSW |
3 |
89,121,412 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Mtx1
|
UTSW |
3 |
89,121,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation