Incidental Mutation 'IGL01317:Mtmr4'
| ID |
73915 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtmr4
|
| Ensembl Gene |
ENSMUSG00000018401 |
| Gene Name |
myotubularin related protein 4 |
| Synonyms |
ZFYVE11, FYVE-DSP2, ESTM44, FYVE zinc finger phosphatase |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
IGL01317
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
87482988-87507128 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 87493230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000119628]
[ENSMUST00000123105]
[ENSMUST00000134216]
[ENSMUST00000146871]
|
| AlphaFold |
Q91XS1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092802
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
126 |
507 |
4.2e-137 |
PFAM |
|
low complexity region
|
933 |
945 |
N/A |
INTRINSIC |
|
coiled coil region
|
961 |
991 |
N/A |
INTRINSIC |
|
FYVE
|
1044 |
1113 |
2.08e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103179
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
126 |
521 |
8.1e-149 |
PFAM |
|
low complexity region
|
990 |
1002 |
N/A |
INTRINSIC |
|
coiled coil region
|
1018 |
1048 |
N/A |
INTRINSIC |
|
FYVE
|
1101 |
1170 |
2.08e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119628
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
127 |
519 |
1.5e-135 |
PFAM |
|
low complexity region
|
990 |
1002 |
N/A |
INTRINSIC |
|
coiled coil region
|
1018 |
1048 |
N/A |
INTRINSIC |
|
FYVE
|
1101 |
1170 |
2.08e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123105
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134216
|
| SMART Domains |
Protein: ENSMUSP00000119660
Gene: ENSMUSG00000018401
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
140 |
204 |
6.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146871
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,362,597 (GRCm39) |
D609E |
probably damaging |
Het |
| Aldh3b1 |
T |
C |
19: 3,968,104 (GRCm39) |
I352V |
probably benign |
Het |
| Apeh |
A |
T |
9: 107,963,406 (GRCm39) |
S605R |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,168,260 (GRCm39) |
K748E |
probably benign |
Het |
| Avpr1a |
T |
C |
10: 122,285,472 (GRCm39) |
S255P |
probably benign |
Het |
| Cadps2 |
T |
A |
6: 23,314,172 (GRCm39) |
D1124V |
possibly damaging |
Het |
| Cask |
C |
T |
X: 13,388,499 (GRCm39) |
E83K |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,704,078 (GRCm39) |
Y670C |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,244,037 (GRCm39) |
Y1343H |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,046,775 (GRCm39) |
V396D |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,578,135 (GRCm39) |
T203A |
probably benign |
Het |
| Dido1 |
A |
C |
2: 180,313,550 (GRCm39) |
N907K |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,642,921 (GRCm39) |
D246E |
probably damaging |
Het |
| Dph1 |
T |
C |
11: 75,071,486 (GRCm39) |
H303R |
probably benign |
Het |
| Dspp |
T |
A |
5: 104,321,914 (GRCm39) |
Y8N |
probably damaging |
Het |
| Efhc2 |
C |
T |
X: 17,071,198 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
A |
2: 3,203,663 (GRCm39) |
V215E |
probably damaging |
Het |
| Fhip1a |
T |
C |
3: 85,580,153 (GRCm39) |
D684G |
probably benign |
Het |
| Foxm1 |
T |
A |
6: 128,344,316 (GRCm39) |
M22K |
probably damaging |
Het |
| Gdpd4 |
A |
C |
7: 97,647,465 (GRCm39) |
M371L |
possibly damaging |
Het |
| Hdac9 |
T |
C |
12: 34,479,488 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,413,908 (GRCm39) |
W162R |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,053,078 (GRCm39) |
D250V |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,153,005 (GRCm39) |
C897* |
probably null |
Het |
| Itprid1 |
G |
T |
6: 55,944,790 (GRCm39) |
A504S |
possibly damaging |
Het |
| Kcnd2 |
T |
C |
6: 21,727,339 (GRCm39) |
*631Q |
probably null |
Het |
| Kcnn2 |
A |
G |
18: 45,693,694 (GRCm39) |
|
probably null |
Het |
| Lama1 |
A |
T |
17: 68,125,696 (GRCm39) |
E2951V |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,845,455 (GRCm39) |
Q1944R |
probably benign |
Het |
| Mmp14 |
A |
G |
14: 54,673,247 (GRCm39) |
T52A |
possibly damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,372 (GRCm39) |
N102K |
probably benign |
Het |
| Mrpl28 |
G |
A |
17: 26,344,489 (GRCm39) |
G205D |
probably damaging |
Het |
| Oog2 |
A |
G |
4: 143,921,837 (GRCm39) |
N249S |
probably benign |
Het |
| Or4f57 |
T |
A |
2: 111,790,620 (GRCm39) |
H266L |
possibly damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,170,131 (GRCm39) |
V882E |
possibly damaging |
Het |
| Qser1 |
A |
C |
2: 104,617,324 (GRCm39) |
Y1073D |
probably damaging |
Het |
| Rbl2 |
C |
A |
8: 91,826,685 (GRCm39) |
D480E |
probably damaging |
Het |
| Rfx7 |
G |
A |
9: 72,525,818 (GRCm39) |
G1003S |
probably damaging |
Het |
| Rrh |
A |
C |
3: 129,616,074 (GRCm39) |
F20V |
possibly damaging |
Het |
| Rwdd3 |
A |
G |
3: 120,965,282 (GRCm39) |
I15T |
possibly damaging |
Het |
| Sestd1 |
A |
T |
2: 77,022,889 (GRCm39) |
M493K |
possibly damaging |
Het |
| Slc17a8 |
T |
A |
10: 89,456,666 (GRCm39) |
L32F |
probably benign |
Het |
| Slc29a4 |
A |
G |
5: 142,691,285 (GRCm39) |
D55G |
probably benign |
Het |
| Tbc1d10a |
A |
T |
11: 4,162,826 (GRCm39) |
Y223F |
probably benign |
Het |
| Tbx20 |
A |
G |
9: 24,681,051 (GRCm39) |
V147A |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,118,770 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
C |
A |
10: 105,249,646 (GRCm39) |
R29L |
probably damaging |
Het |
| Ttc21b |
T |
A |
2: 66,018,700 (GRCm39) |
M1236L |
probably benign |
Het |
| Unc119 |
T |
A |
11: 78,238,052 (GRCm39) |
C12S |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,839,787 (GRCm39) |
M1919T |
probably benign |
Het |
| Zmat4 |
C |
A |
8: 24,392,185 (GRCm39) |
T47K |
probably benign |
Het |
|
| Other mutations in Mtmr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Mtmr4
|
APN |
11 |
87,502,750 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01134:Mtmr4
|
APN |
11 |
87,494,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01544:Mtmr4
|
APN |
11 |
87,488,437 (GRCm39) |
splice site |
probably benign |
|
|
IGL01574:Mtmr4
|
APN |
11 |
87,491,473 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01807:Mtmr4
|
APN |
11 |
87,494,976 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02059:Mtmr4
|
APN |
11 |
87,491,950 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03049:Mtmr4
|
APN |
11 |
87,505,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03196:Mtmr4
|
APN |
11 |
87,491,609 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03214:Mtmr4
|
APN |
11 |
87,488,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03258:Mtmr4
|
APN |
11 |
87,502,829 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
Hippie
|
UTSW |
11 |
87,504,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
incharge
|
UTSW |
11 |
87,501,868 (GRCm39) |
nonsense |
probably null |
|
|
PIT4802001:Mtmr4
|
UTSW |
11 |
87,501,953 (GRCm39) |
missense |
probably benign |
|
|
R0009:Mtmr4
|
UTSW |
11 |
87,502,334 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0564:Mtmr4
|
UTSW |
11 |
87,489,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0637:Mtmr4
|
UTSW |
11 |
87,501,890 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0780:Mtmr4
|
UTSW |
11 |
87,502,266 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1490:Mtmr4
|
UTSW |
11 |
87,503,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1550:Mtmr4
|
UTSW |
11 |
87,504,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Mtmr4
|
UTSW |
11 |
87,493,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1828:Mtmr4
|
UTSW |
11 |
87,502,943 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2040:Mtmr4
|
UTSW |
11 |
87,495,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2088:Mtmr4
|
UTSW |
11 |
87,501,793 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2497:Mtmr4
|
UTSW |
11 |
87,491,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2993:Mtmr4
|
UTSW |
11 |
87,495,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3857:Mtmr4
|
UTSW |
11 |
87,488,088 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3858:Mtmr4
|
UTSW |
11 |
87,488,088 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4614:Mtmr4
|
UTSW |
11 |
87,501,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4615:Mtmr4
|
UTSW |
11 |
87,501,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4616:Mtmr4
|
UTSW |
11 |
87,501,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4816:Mtmr4
|
UTSW |
11 |
87,494,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5454:Mtmr4
|
UTSW |
11 |
87,501,868 (GRCm39) |
nonsense |
probably null |
|
|
R5502:Mtmr4
|
UTSW |
11 |
87,504,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Mtmr4
|
UTSW |
11 |
87,495,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5833:Mtmr4
|
UTSW |
11 |
87,495,875 (GRCm39) |
nonsense |
probably null |
|
|
R5907:Mtmr4
|
UTSW |
11 |
87,502,876 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5980:Mtmr4
|
UTSW |
11 |
87,494,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6077:Mtmr4
|
UTSW |
11 |
87,501,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6434:Mtmr4
|
UTSW |
11 |
87,504,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6521:Mtmr4
|
UTSW |
11 |
87,504,353 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7141:Mtmr4
|
UTSW |
11 |
87,491,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Mtmr4
|
UTSW |
11 |
87,495,431 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7290:Mtmr4
|
UTSW |
11 |
87,502,063 (GRCm39) |
missense |
probably benign |
|
|
R7350:Mtmr4
|
UTSW |
11 |
87,491,476 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7392:Mtmr4
|
UTSW |
11 |
87,495,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7447:Mtmr4
|
UTSW |
11 |
87,502,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7530:Mtmr4
|
UTSW |
11 |
87,502,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7660:Mtmr4
|
UTSW |
11 |
87,495,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7713:Mtmr4
|
UTSW |
11 |
87,488,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Mtmr4
|
UTSW |
11 |
87,503,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7944:Mtmr4
|
UTSW |
11 |
87,495,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7945:Mtmr4
|
UTSW |
11 |
87,495,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8010:Mtmr4
|
UTSW |
11 |
87,489,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8116:Mtmr4
|
UTSW |
11 |
87,502,756 (GRCm39) |
nonsense |
probably null |
|
|
R8544:Mtmr4
|
UTSW |
11 |
87,502,735 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8559:Mtmr4
|
UTSW |
11 |
87,494,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Mtmr4
|
UTSW |
11 |
87,493,626 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9562:Mtmr4
|
UTSW |
11 |
87,493,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9673:Mtmr4
|
UTSW |
11 |
87,504,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9673:Mtmr4
|
UTSW |
11 |
87,503,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9797:Mtmr4
|
UTSW |
11 |
87,494,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Mtmr4
|
UTSW |
11 |
87,502,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Mtmr4
|
UTSW |
11 |
87,502,706 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Posted On |
2013-10-07 |
Incidental Mutation