Incidental Mutation 'R6006:Mtx1'
| ID |
479465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtx1
|
| Ensembl Gene |
ENSMUSG00000064068 |
| Gene Name |
metaxin 1 |
| Synonyms |
Gcap6 |
| MMRRC Submission |
044183-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.372)
|
| Stock # |
R6006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89116388-89121214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89117613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 60
(G60D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029682]
[ENSMUST00000073572]
[ENSMUST00000077367]
[ENSMUST00000118964]
[ENSMUST00000119084]
[ENSMUST00000167998]
[ENSMUST00000152789]
[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: G300D
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000073261
Gene: ENSMUSG00000064068
AA Change: G300D
| 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: G269D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114009
Gene: ENSMUSG00000064068
AA Change: G269D
| 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: G198D
|
| SMART Domains |
Protein: ENSMUSP00000113986
Gene: ENSMUSG00000064068
AA Change: G198D
| 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 |
unknown
Transcript: ENSMUST00000173477
AA Change: G137D
|
| SMART Domains |
Protein: ENSMUSP00000133282
Gene: ENSMUSG00000064068
AA Change: G137D
| 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 |
unknown
Transcript: ENSMUST00000173475
AA Change: G10D
|
| SMART Domains |
Protein: ENSMUSP00000134110
Gene: ENSMUSG00000064068
AA Change: G10D
| 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 |
unknown
Transcript: ENSMUST00000173593
AA Change: G162D
|
| SMART Domains |
Protein: ENSMUSP00000133866
Gene: ENSMUSG00000064068
AA Change: G162D
| 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 |
noncoding transcript
Transcript: ENSMUST00000138633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138249
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156847
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129055
|
| 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: ENSMUST00000152789
|
| 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 damaging
Transcript: ENSMUST00000174126
AA Change: G60D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133291
Gene: ENSMUSG00000064068
AA Change: G60D
| 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: ENSMUST00000199915
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196887
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174218
|
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
A |
G |
8: 124,694,804 (GRCm39) |
I296T |
probably benign |
Het |
| Abcb4 |
C |
A |
5: 8,996,026 (GRCm39) |
T894K |
probably damaging |
Het |
| Acad12 |
C |
T |
5: 121,737,299 (GRCm39) |
V491I |
possibly damaging |
Het |
| Actr8 |
T |
A |
14: 29,706,099 (GRCm39) |
|
probably null |
Het |
| Adam7 |
A |
C |
14: 68,748,845 (GRCm39) |
D467E |
probably damaging |
Het |
| Adamts18 |
A |
T |
8: 114,433,606 (GRCm39) |
C1043S |
probably damaging |
Het |
| Adgrb3 |
T |
G |
1: 25,865,612 (GRCm39) |
D77A |
possibly damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,761,426 (GRCm39) |
D1056E |
probably benign |
Het |
| Bco1 |
A |
G |
8: 117,840,330 (GRCm39) |
|
probably null |
Het |
| Btn2a2 |
A |
T |
13: 23,670,533 (GRCm39) |
W67R |
probably damaging |
Het |
| Camkmt |
A |
T |
17: 85,759,666 (GRCm39) |
N269Y |
possibly damaging |
Het |
| Cand1 |
A |
G |
10: 119,045,933 (GRCm39) |
F991L |
possibly damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,835,597 (GRCm39) |
K234E |
possibly damaging |
Het |
| Cd14 |
T |
C |
18: 36,859,335 (GRCm39) |
D40G |
possibly damaging |
Het |
| Cdc73 |
A |
T |
1: 143,493,177 (GRCm39) |
F386I |
probably damaging |
Het |
| Cdk14 |
C |
T |
5: 5,299,211 (GRCm39) |
M1I |
probably null |
Het |
| Cnpy3 |
A |
C |
17: 47,047,790 (GRCm39) |
S220A |
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,845,685 (GRCm39) |
V359A |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,696,105 (GRCm39) |
C2654F |
unknown |
Het |
| Colgalt2 |
A |
G |
1: 152,348,912 (GRCm39) |
T186A |
probably damaging |
Het |
| Cpsf4l |
A |
G |
11: 113,590,753 (GRCm39) |
V199A |
probably benign |
Het |
| Dhtkd1 |
G |
A |
2: 5,908,836 (GRCm39) |
Q753* |
probably null |
Het |
| Ep400 |
A |
G |
5: 110,852,825 (GRCm39) |
S1307P |
unknown |
Het |
| Fer1l6 |
T |
C |
15: 58,518,893 (GRCm39) |
V1675A |
probably damaging |
Het |
| Glis1 |
T |
C |
4: 107,425,103 (GRCm39) |
L238P |
probably damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,811,832 (GRCm39) |
Y84H |
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 87,998,854 (GRCm39) |
D318E |
probably damaging |
Het |
| Lats1 |
T |
C |
10: 7,581,359 (GRCm39) |
F715L |
probably damaging |
Het |
| Mlxip |
T |
C |
5: 123,583,721 (GRCm39) |
F428S |
possibly damaging |
Het |
| Morc3 |
T |
G |
16: 93,663,381 (GRCm39) |
I528R |
possibly damaging |
Het |
| Mug2 |
G |
C |
6: 122,060,459 (GRCm39) |
Q1398H |
probably null |
Het |
| Mup8 |
T |
C |
4: 60,220,403 (GRCm39) |
I110V |
probably benign |
Het |
| Nfkb1 |
A |
T |
3: 135,309,522 (GRCm39) |
L12* |
probably null |
Het |
| Numa1 |
G |
A |
7: 101,641,926 (GRCm39) |
|
probably null |
Het |
| Or52e18 |
T |
G |
7: 104,609,870 (GRCm39) |
E23A |
probably damaging |
Het |
| Pbk |
C |
T |
14: 66,054,094 (GRCm39) |
P213L |
probably damaging |
Het |
| Pdcd1lg2 |
T |
A |
19: 29,431,905 (GRCm39) |
H224Q |
possibly damaging |
Het |
| Pkp1 |
C |
G |
1: 135,805,406 (GRCm39) |
|
probably null |
Het |
| Rela |
A |
G |
19: 5,689,967 (GRCm39) |
N139S |
probably damaging |
Het |
| Rgs3 |
G |
A |
4: 62,542,143 (GRCm39) |
R39Q |
probably damaging |
Het |
| S1pr3 |
A |
G |
13: 51,573,731 (GRCm39) |
E304G |
probably damaging |
Het |
| Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
| Setmar |
T |
C |
6: 108,053,387 (GRCm39) |
S294P |
possibly damaging |
Het |
| Smc2 |
A |
G |
4: 52,459,024 (GRCm39) |
N473S |
probably benign |
Het |
| Ssr1 |
TCTCTTTC |
T |
13: 38,169,972 (GRCm39) |
|
probably null |
Het |
| Tigd2 |
A |
G |
6: 59,187,762 (GRCm39) |
I210V |
possibly damaging |
Het |
| Tmprss9 |
T |
A |
10: 80,719,555 (GRCm39) |
F93L |
possibly damaging |
Het |
| U2surp |
T |
C |
9: 95,361,360 (GRCm39) |
Y633C |
probably damaging |
Het |
| Usp18 |
A |
T |
6: 121,239,781 (GRCm39) |
E292V |
possibly damaging |
Het |
| Usp32 |
A |
C |
11: 84,883,277 (GRCm39) |
|
probably null |
Het |
| Utp18 |
T |
C |
11: 93,776,449 (GRCm39) |
D12G |
probably benign |
Het |
| Vmn1r216 |
C |
A |
13: 23,283,928 (GRCm39) |
H204N |
probably benign |
Het |
| Wdr97 |
T |
C |
15: 76,241,372 (GRCm39) |
V626A |
probably damaging |
Het |
| Wwc1 |
A |
T |
11: 35,761,809 (GRCm39) |
V619E |
probably null |
Het |
| Wwc1 |
T |
C |
11: 35,780,100 (GRCm39) |
D285G |
probably damaging |
Het |
| Zfp3 |
A |
T |
11: 70,662,590 (GRCm39) |
Q183L |
probably benign |
Het |
| Zfp955a |
A |
G |
17: 33,460,660 (GRCm39) |
C491R |
probably damaging |
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 |
|
IGL02544:Mtx1
|
APN |
3 |
89,117,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Mtx1
|
UTSW |
3 |
89,116,648 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4944:Mtx1
|
UTSW |
3 |
89,121,205 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTTCTGAGAGCCCAGACG -3'
(R):5'- AGCCATGAGACTTAGAAGCCC -3'
Sequencing Primer
(F):5'- TGAGAGCCCAGACGCTGAG -3'
(R):5'- TTAGAAGCCCACCCCGTG -3'
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| Posted On |
2017-06-26 |
Incidental Mutation