Incidental Mutation 'R5502:Mtmr4'
| ID |
484462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr4
|
| Ensembl Gene |
ENSMUSG00000018401 |
| Gene Name |
myotubularin related protein 4 |
| Synonyms |
ZFYVE11, FYVE-DSP2, ESTM44, FYVE zinc finger phosphatase |
| MMRRC Submission |
043063-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
R5502 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87482988-87507128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87504904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 1133
(N1133I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000093956]
[ENSMUST00000103179]
[ENSMUST00000119628]
|
| AlphaFold |
Q91XS1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092802
AA Change: N1076I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: N1076I
| 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: ENSMUST00000093956
|
| SMART Domains |
Protein: ENSMUSP00000091488
Gene: ENSMUSG00000070345
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
11 |
153 |
2.35e-9 |
SMART |
|
Blast:HSF
|
163 |
423 |
1e-149 |
BLAST |
|
low complexity region
|
442 |
457 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103179
AA Change: N1133I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: N1133I
| 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 damaging
Transcript: ENSMUST00000119628
AA Change: N1133I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: N1133I
| 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 |
|
| Meta Mutation Damage Score |
0.4621 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.0%
- 20x: 90.2%
|
| Validation Efficiency |
98% (84/86) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abcc8 |
A |
G |
7: 45,758,262 (GRCm39) |
I1268T |
probably benign |
Het |
| Accsl |
C |
T |
2: 93,687,289 (GRCm39) |
|
probably null |
Het |
| Actmap |
A |
G |
7: 26,896,542 (GRCm39) |
D35G |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,756,291 (GRCm39) |
I842F |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,415,370 (GRCm39) |
L98Q |
probably damaging |
Het |
| Bin2 |
A |
G |
15: 100,543,286 (GRCm39) |
V299A |
probably benign |
Het |
| Cabp4 |
G |
A |
19: 4,181,228 (GRCm39) |
|
probably benign |
Het |
| Ces2f |
A |
T |
8: 105,679,155 (GRCm39) |
H324L |
possibly damaging |
Het |
| Chd4 |
G |
A |
6: 125,082,239 (GRCm39) |
R576Q |
possibly damaging |
Het |
| Cndp1 |
A |
G |
18: 84,650,138 (GRCm39) |
V185A |
possibly damaging |
Het |
| Cntn3 |
A |
C |
6: 102,242,295 (GRCm39) |
V450G |
possibly damaging |
Het |
| Col5a2 |
C |
A |
1: 45,419,286 (GRCm39) |
G1265W |
probably damaging |
Het |
| Corin |
G |
A |
5: 72,473,449 (GRCm39) |
Q754* |
probably null |
Het |
| Cyp4a10 |
A |
G |
4: 115,382,702 (GRCm39) |
N291S |
probably benign |
Het |
| Dap3 |
T |
C |
3: 88,832,633 (GRCm39) |
Y353C |
probably damaging |
Het |
| Disp1 |
A |
G |
1: 182,869,450 (GRCm39) |
V990A |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,847,594 (GRCm39) |
|
probably null |
Het |
| Dop1b |
T |
A |
16: 93,590,114 (GRCm39) |
V179E |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,132,836 (GRCm39) |
|
probably null |
Het |
| Fyb2 |
A |
T |
4: 104,802,521 (GRCm39) |
Q141L |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,104,227 (GRCm39) |
L178* |
probably null |
Het |
| Gm15446 |
A |
T |
5: 110,088,364 (GRCm39) |
K25* |
probably null |
Het |
| Gm17067 |
A |
T |
7: 42,357,843 (GRCm39) |
C220S |
probably damaging |
Het |
| Gm4868 |
A |
G |
5: 125,925,042 (GRCm39) |
|
noncoding transcript |
Het |
| Golga4 |
GT |
GTT |
9: 118,388,125 (GRCm39) |
|
probably null |
Het |
| Gria2 |
T |
C |
3: 80,614,252 (GRCm39) |
N596S |
probably damaging |
Het |
| Hoxb4 |
A |
G |
11: 96,211,057 (GRCm39) |
D219G |
probably damaging |
Het |
| Htr1b |
T |
A |
9: 81,513,854 (GRCm39) |
Q251L |
possibly damaging |
Het |
| Ibtk |
A |
C |
9: 85,602,916 (GRCm39) |
S696R |
probably benign |
Het |
| Ide |
C |
A |
19: 37,307,855 (GRCm39) |
K52N |
unknown |
Het |
| Incenp |
C |
A |
19: 9,870,728 (GRCm39) |
L300F |
unknown |
Het |
| Ino80 |
T |
C |
2: 119,232,877 (GRCm39) |
Y1147C |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,207,702 (GRCm39) |
Y49* |
probably null |
Het |
| Mmp15 |
A |
T |
8: 96,094,812 (GRCm39) |
T229S |
possibly damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,411,250 (GRCm39) |
G284R |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,448,381 (GRCm39) |
I52T |
probably damaging |
Het |
| Nat8f5 |
G |
T |
6: 85,794,635 (GRCm39) |
F108L |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,350,158 (GRCm39) |
H2402Q |
probably damaging |
Het |
| Nexn |
T |
A |
3: 151,943,941 (GRCm39) |
E331D |
probably damaging |
Het |
| Nktr |
C |
T |
9: 121,577,672 (GRCm39) |
|
probably benign |
Het |
| Oaz3 |
T |
C |
3: 94,342,392 (GRCm39) |
D88G |
probably damaging |
Het |
| Or1n1 |
T |
C |
2: 36,750,282 (GRCm39) |
Y26C |
probably damaging |
Het |
| Or4l1 |
A |
G |
14: 50,166,993 (GRCm39) |
Y3H |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,656 (GRCm39) |
T217S |
possibly damaging |
Het |
| Pcdhga2 |
A |
T |
18: 37,803,605 (GRCm39) |
D483V |
possibly damaging |
Het |
| Pde5a |
G |
T |
3: 122,596,681 (GRCm39) |
G456V |
probably damaging |
Het |
| Qser1 |
T |
C |
2: 104,616,919 (GRCm39) |
T1298A |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,685,064 (GRCm39) |
V303A |
probably damaging |
Het |
| Rbbp6 |
T |
G |
7: 122,587,947 (GRCm39) |
M267R |
probably damaging |
Het |
| Rfx8 |
C |
A |
1: 39,722,113 (GRCm39) |
V291F |
probably damaging |
Het |
| Rnf121 |
T |
C |
7: 101,672,555 (GRCm39) |
K276R |
probably null |
Het |
| Rtca |
G |
T |
3: 116,282,931 (GRCm39) |
Y352* |
probably null |
Het |
| Rusf1 |
C |
T |
7: 127,884,308 (GRCm39) |
V225M |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,443,549 (GRCm39) |
V1865A |
probably damaging |
Het |
| Sclt1 |
C |
T |
3: 41,611,710 (GRCm39) |
E521K |
probably benign |
Het |
| Setd1a |
T |
C |
7: 127,396,420 (GRCm39) |
|
probably null |
Het |
| Slc37a4 |
G |
T |
9: 44,313,394 (GRCm39) |
V337L |
probably benign |
Het |
| Slc5a9 |
G |
T |
4: 111,750,366 (GRCm39) |
S79* |
probably null |
Het |
| Snrpd2 |
T |
C |
7: 18,885,247 (GRCm39) |
V36A |
probably benign |
Het |
| Spata31d1b |
A |
T |
13: 59,864,486 (GRCm39) |
N545Y |
probably damaging |
Het |
| Sstr4 |
CGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
2: 148,237,471 (GRCm39) |
|
probably benign |
Het |
| St7 |
G |
A |
6: 17,834,673 (GRCm39) |
V98I |
possibly damaging |
Het |
| Strip2 |
A |
T |
6: 29,927,623 (GRCm39) |
I223F |
probably benign |
Het |
| Syn2 |
A |
C |
6: 115,255,313 (GRCm39) |
N542H |
possibly damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,109,496 (GRCm39) |
T327A |
probably benign |
Het |
| Timm44 |
A |
T |
8: 4,319,992 (GRCm39) |
F59I |
possibly damaging |
Het |
| Tmem41b |
A |
T |
7: 109,581,970 (GRCm39) |
C44* |
probably null |
Het |
| Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,105,278 (GRCm39) |
|
probably benign |
Het |
| Tusc3 |
A |
T |
8: 39,597,947 (GRCm39) |
K188* |
probably null |
Het |
| Usp39 |
T |
A |
6: 72,305,670 (GRCm39) |
Q371L |
probably benign |
Het |
| Vmn2r13 |
G |
T |
5: 109,321,580 (GRCm39) |
N372K |
probably damaging |
Het |
| Zfp961 |
T |
A |
8: 72,721,903 (GRCm39) |
Y139N |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAACGAAGACATCATTGCAGG -3'
(R):5'- AACTGGAAGCCGTAGCAATG -3'
Sequencing Primer
(F):5'- CGAAGACATCATTGCAGGTAAGAC -3'
(R):5'- AGCCGTAGCAATGGGTTTC -3'
|
| Posted On |
2017-07-21 |
Incidental Mutation