Incidental Mutation 'IGL03196:Mtmr4'
ID |
412817 |
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 # |
IGL03196
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
87482988-87507128 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 87491609 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 155
(I155N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112902
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000119628]
[ENSMUST00000123105]
[ENSMUST00000134216]
[ENSMUST00000146871]
|
AlphaFold |
Q91XS1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092802
AA Change: I155N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000090478 Gene: ENSMUSG00000018401 AA Change: I155N
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 |
possibly damaging
Transcript: ENSMUST00000103179
AA Change: I155N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099468 Gene: ENSMUSG00000018401 AA Change: I155N
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 |
possibly damaging
Transcript: ENSMUST00000119628
AA Change: I155N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112902 Gene: ENSMUSG00000018401 AA Change: I155N
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 |
possibly damaging
Transcript: ENSMUST00000134216
AA Change: I169N
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000119660 Gene: ENSMUSG00000018401 AA Change: I169N
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
T |
C |
6: 83,138,045 (GRCm39) |
V57A |
probably damaging |
Het |
Adck1 |
T |
C |
12: 88,397,885 (GRCm39) |
V173A |
probably damaging |
Het |
Adgrv1 |
C |
A |
13: 81,594,597 (GRCm39) |
R4139L |
probably benign |
Het |
Aqp4 |
T |
G |
18: 15,526,566 (GRCm39) |
D305A |
probably benign |
Het |
Cadm1 |
T |
C |
9: 47,710,675 (GRCm39) |
S193P |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,432,340 (GRCm39) |
S377P |
possibly damaging |
Het |
Clic5 |
C |
A |
17: 44,552,960 (GRCm39) |
H71Q |
possibly damaging |
Het |
Col20a1 |
G |
A |
2: 180,649,671 (GRCm39) |
|
probably null |
Het |
Col5a1 |
A |
G |
2: 27,865,610 (GRCm39) |
D759G |
unknown |
Het |
Cplane1 |
A |
T |
15: 8,230,826 (GRCm39) |
K1034N |
probably damaging |
Het |
Cpt1b |
A |
G |
15: 89,308,598 (GRCm39) |
V110A |
probably benign |
Het |
Cts8 |
C |
T |
13: 61,401,272 (GRCm39) |
G85S |
probably benign |
Het |
Cul5 |
T |
A |
9: 53,537,180 (GRCm39) |
M551L |
probably damaging |
Het |
Eno1b |
T |
A |
18: 48,180,558 (GRCm39) |
D245E |
probably damaging |
Het |
Fgf1 |
A |
T |
18: 38,975,028 (GRCm39) |
Y140* |
probably null |
Het |
Flt1 |
A |
G |
5: 147,551,937 (GRCm39) |
|
probably null |
Het |
Fndc7 |
A |
G |
3: 108,790,760 (GRCm39) |
Y89H |
probably damaging |
Het |
Gm3127 |
A |
T |
14: 15,432,259 (GRCm39) |
M254L |
probably benign |
Het |
Gm5849 |
T |
C |
3: 90,685,089 (GRCm39) |
E32G |
probably damaging |
Het |
Gys1 |
T |
C |
7: 45,104,241 (GRCm39) |
|
probably benign |
Het |
H2ap |
A |
G |
X: 9,713,349 (GRCm39) |
Q27R |
possibly damaging |
Het |
Hdgfl2 |
T |
C |
17: 56,400,607 (GRCm39) |
V125A |
probably benign |
Het |
Igkv6-32 |
C |
T |
6: 70,051,042 (GRCm39) |
V105I |
probably benign |
Het |
Lmo3 |
T |
C |
6: 138,342,993 (GRCm39) |
T140A |
probably benign |
Het |
Marf1 |
A |
G |
16: 13,958,123 (GRCm39) |
V793A |
possibly damaging |
Het |
Mep1b |
A |
C |
18: 21,228,121 (GRCm39) |
I575L |
probably benign |
Het |
Muc2 |
T |
C |
7: 141,301,367 (GRCm39) |
F361L |
probably damaging |
Het |
Ncoa7 |
T |
A |
10: 30,523,510 (GRCm39) |
|
probably benign |
Het |
Nme6 |
C |
T |
9: 109,670,561 (GRCm39) |
R71W |
probably damaging |
Het |
Or56b1b |
T |
C |
7: 108,164,061 (GRCm39) |
S314G |
probably benign |
Het |
Or9g4b |
G |
A |
2: 85,616,365 (GRCm39) |
G170D |
possibly damaging |
Het |
Or9m2 |
A |
T |
2: 87,820,826 (GRCm39) |
I124F |
possibly damaging |
Het |
Osbpl9 |
C |
T |
4: 108,930,061 (GRCm39) |
V357I |
probably damaging |
Het |
Ppp4r3a |
A |
G |
12: 101,015,913 (GRCm39) |
|
probably benign |
Het |
Rnf216 |
T |
C |
5: 143,066,766 (GRCm39) |
R474G |
probably damaging |
Het |
Rpp25l |
A |
G |
4: 41,712,541 (GRCm39) |
V78A |
possibly damaging |
Het |
Sh3bp2 |
C |
A |
5: 34,714,687 (GRCm39) |
P245Q |
probably damaging |
Het |
Slc33a1 |
A |
G |
3: 63,871,151 (GRCm39) |
F154S |
possibly damaging |
Het |
Wasf2 |
T |
A |
4: 132,921,732 (GRCm39) |
S284T |
unknown |
Het |
Wdtc1 |
T |
C |
4: 133,022,648 (GRCm39) |
E566G |
probably damaging |
Het |
Zcchc14 |
C |
T |
8: 122,335,877 (GRCm39) |
|
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 |
IGL01317:Mtmr4
|
APN |
11 |
87,493,230 (GRCm39) |
unclassified |
probably benign |
|
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 |
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 |
2016-08-02 |