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 zinc finger phosphatase, ESTM44, FYVE-DSP2 |
| MMRRC Submission |
043063-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R5502 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87592162-87616302 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87614078 bp (GRCm38)
|
| 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: 71,164,546 (GRCm38) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,164,547 (GRCm38) |
E685V |
possibly damaging |
Het |
| Abcc8 |
A |
G |
7: 46,108,838 (GRCm38) |
I1268T |
probably benign |
Het |
| Accsl |
C |
T |
2: 93,856,944 (GRCm38) |
|
probably null |
Het |
| Ank3 |
A |
T |
10: 69,920,461 (GRCm38) |
I842F |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,504,074 (GRCm38) |
L98Q |
probably damaging |
Het |
| BC017158 |
C |
T |
7: 128,285,136 (GRCm38) |
V225M |
probably damaging |
Het |
| BC024978 |
A |
G |
7: 27,197,117 (GRCm38) |
D35G |
possibly damaging |
Het |
| Bin2 |
A |
G |
15: 100,645,405 (GRCm38) |
V299A |
probably benign |
Het |
| Cabp4 |
G |
A |
19: 4,131,229 (GRCm38) |
|
probably benign |
Het |
| Ces2f |
A |
T |
8: 104,952,523 (GRCm38) |
H324L |
possibly damaging |
Het |
| Chd4 |
G |
A |
6: 125,105,276 (GRCm38) |
R576Q |
possibly damaging |
Het |
| Cndp1 |
A |
G |
18: 84,632,013 (GRCm38) |
V185A |
possibly damaging |
Het |
| Cntn3 |
A |
C |
6: 102,265,334 (GRCm38) |
V450G |
possibly damaging |
Het |
| Col5a2 |
C |
A |
1: 45,380,126 (GRCm38) |
G1265W |
probably damaging |
Het |
| Corin |
G |
A |
5: 72,316,106 (GRCm38) |
Q754* |
probably null |
Het |
| Cyp4a10 |
A |
G |
4: 115,525,505 (GRCm38) |
N291S |
probably benign |
Het |
| Dap3 |
T |
C |
3: 88,925,326 (GRCm38) |
Y353C |
probably damaging |
Het |
| Disp1 |
A |
G |
1: 183,087,886 (GRCm38) |
V990A |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,610,182 (GRCm38) |
|
probably null |
Het |
| Dopey2 |
T |
A |
16: 93,793,226 (GRCm38) |
V179E |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 72,378,992 (GRCm38) |
|
probably null |
Het |
| Fyb2 |
A |
T |
4: 104,945,324 (GRCm38) |
Q141L |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,213,401 (GRCm38) |
L178* |
probably null |
Het |
| Gm15446 |
A |
T |
5: 109,940,498 (GRCm38) |
K25* |
probably null |
Het |
| Gm17067 |
A |
T |
7: 42,708,419 (GRCm38) |
C220S |
probably damaging |
Het |
| Gm4868 |
A |
G |
5: 125,847,978 (GRCm38) |
|
noncoding transcript |
Het |
| Golga4 |
GT |
GTT |
9: 118,559,057 (GRCm38) |
|
probably null |
Het |
| Gria2 |
T |
C |
3: 80,706,945 (GRCm38) |
N596S |
probably damaging |
Het |
| Hoxb4 |
A |
G |
11: 96,320,231 (GRCm38) |
D219G |
probably damaging |
Het |
| Htr1b |
T |
A |
9: 81,631,801 (GRCm38) |
Q251L |
possibly damaging |
Het |
| Ibtk |
A |
C |
9: 85,720,863 (GRCm38) |
S696R |
probably benign |
Het |
| Ide |
C |
A |
19: 37,330,456 (GRCm38) |
K52N |
unknown |
Het |
| Incenp |
C |
A |
19: 9,893,364 (GRCm38) |
L300F |
unknown |
Het |
| Ino80 |
T |
C |
2: 119,402,396 (GRCm38) |
Y1147C |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,300,281 (GRCm38) |
Y49* |
probably null |
Het |
| Mmp15 |
A |
T |
8: 95,368,184 (GRCm38) |
T229S |
possibly damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,173,814 (GRCm38) |
G284R |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,558,369 (GRCm38) |
I52T |
probably damaging |
Het |
| Nat8f5 |
G |
T |
6: 85,817,653 (GRCm38) |
F108L |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,310,999 (GRCm38) |
H2402Q |
probably damaging |
Het |
| Nexn |
T |
A |
3: 152,238,304 (GRCm38) |
E331D |
probably damaging |
Het |
| Nktr |
C |
T |
9: 121,748,606 (GRCm38) |
|
probably benign |
Het |
| Oaz3 |
T |
C |
3: 94,435,085 (GRCm38) |
D88G |
probably damaging |
Het |
| Olfr351 |
T |
C |
2: 36,860,270 (GRCm38) |
Y26C |
probably damaging |
Het |
| Olfr723 |
A |
G |
14: 49,929,536 (GRCm38) |
Y3H |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,401,603 (GRCm38) |
T217S |
possibly damaging |
Het |
| Pcdhga2 |
A |
T |
18: 37,670,552 (GRCm38) |
D483V |
possibly damaging |
Het |
| Pde5a |
G |
T |
3: 122,803,032 (GRCm38) |
G456V |
probably damaging |
Het |
| Qser1 |
T |
C |
2: 104,786,574 (GRCm38) |
T1298A |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,721,329 (GRCm38) |
V303A |
probably damaging |
Het |
| Rbbp6 |
T |
G |
7: 122,988,724 (GRCm38) |
M267R |
probably damaging |
Het |
| Rfx8 |
C |
A |
1: 39,682,953 (GRCm38) |
V291F |
probably damaging |
Het |
| Rnf121 |
T |
C |
7: 102,023,348 (GRCm38) |
K276R |
probably null |
Het |
| Rtca |
G |
T |
3: 116,489,282 (GRCm38) |
Y352* |
probably null |
Het |
| Sacs |
T |
C |
14: 61,206,100 (GRCm38) |
V1865A |
probably damaging |
Het |
| Sclt1 |
C |
T |
3: 41,657,275 (GRCm38) |
E521K |
probably benign |
Het |
| Setd1a |
T |
C |
7: 127,797,248 (GRCm38) |
|
probably null |
Het |
| Slc37a4 |
G |
T |
9: 44,402,097 (GRCm38) |
V337L |
probably benign |
Het |
| Slc5a9 |
G |
T |
4: 111,893,169 (GRCm38) |
S79* |
probably null |
Het |
| Snrpd2 |
T |
C |
7: 19,151,322 (GRCm38) |
V36A |
probably benign |
Het |
| Spata31d1b |
A |
T |
13: 59,716,672 (GRCm38) |
N545Y |
probably damaging |
Het |
| Sstr4 |
CGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
2: 148,395,551 (GRCm38) |
|
probably benign |
Het |
| St7 |
G |
A |
6: 17,834,674 (GRCm38) |
V98I |
possibly damaging |
Het |
| Strip2 |
A |
T |
6: 29,927,624 (GRCm38) |
I223F |
probably benign |
Het |
| Syn2 |
A |
C |
6: 115,278,352 (GRCm38) |
N542H |
possibly damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,227,443 (GRCm38) |
T327A |
probably benign |
Het |
| Timm44 |
A |
T |
8: 4,269,992 (GRCm38) |
F59I |
possibly damaging |
Het |
| Tmem41b |
A |
T |
7: 109,982,763 (GRCm38) |
C44* |
probably null |
Het |
| Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,214,452 (GRCm38) |
|
probably benign |
Het |
| Tusc3 |
A |
T |
8: 39,130,793 (GRCm38) |
K188* |
probably null |
Het |
| Usp39 |
T |
A |
6: 72,328,687 (GRCm38) |
Q371L |
probably benign |
Het |
| Vmn2r13 |
G |
T |
5: 109,173,714 (GRCm38) |
N372K |
probably damaging |
Het |
| Zfp961 |
T |
A |
8: 71,968,059 (GRCm38) |
Y139N |
probably damaging |
Het |
|
| Other mutations in Mtmr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Mtmr4
|
APN |
11 |
87,611,924 (GRCm38) |
missense |
probably benign |
0.29 |
|
IGL01134:Mtmr4
|
APN |
11 |
87,604,067 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01317:Mtmr4
|
APN |
11 |
87,602,404 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01544:Mtmr4
|
APN |
11 |
87,597,611 (GRCm38) |
splice site |
probably benign |
|
|
IGL01574:Mtmr4
|
APN |
11 |
87,600,647 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01807:Mtmr4
|
APN |
11 |
87,604,150 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
IGL02059:Mtmr4
|
APN |
11 |
87,601,124 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL03049:Mtmr4
|
APN |
11 |
87,614,234 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03196:Mtmr4
|
APN |
11 |
87,600,783 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL03214:Mtmr4
|
APN |
11 |
87,597,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03258:Mtmr4
|
APN |
11 |
87,612,003 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
Hippie
|
UTSW |
11 |
87,613,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
incharge
|
UTSW |
11 |
87,611,042 (GRCm38) |
nonsense |
probably null |
|
|
PIT4802001:Mtmr4
|
UTSW |
11 |
87,611,127 (GRCm38) |
missense |
probably benign |
|
|
R0009:Mtmr4
|
UTSW |
11 |
87,611,508 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0564:Mtmr4
|
UTSW |
11 |
87,598,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0637:Mtmr4
|
UTSW |
11 |
87,611,064 (GRCm38) |
missense |
probably benign |
0.30 |
|
R0780:Mtmr4
|
UTSW |
11 |
87,611,440 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1490:Mtmr4
|
UTSW |
11 |
87,612,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1550:Mtmr4
|
UTSW |
11 |
87,613,516 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1777:Mtmr4
|
UTSW |
11 |
87,602,830 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1828:Mtmr4
|
UTSW |
11 |
87,612,117 (GRCm38) |
missense |
probably benign |
0.26 |
|
R2040:Mtmr4
|
UTSW |
11 |
87,605,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2088:Mtmr4
|
UTSW |
11 |
87,610,967 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2497:Mtmr4
|
UTSW |
11 |
87,600,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2993:Mtmr4
|
UTSW |
11 |
87,604,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3857:Mtmr4
|
UTSW |
11 |
87,597,262 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3858:Mtmr4
|
UTSW |
11 |
87,597,262 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4614:Mtmr4
|
UTSW |
11 |
87,610,935 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4615:Mtmr4
|
UTSW |
11 |
87,610,935 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4616:Mtmr4
|
UTSW |
11 |
87,610,935 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4816:Mtmr4
|
UTSW |
11 |
87,604,097 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5454:Mtmr4
|
UTSW |
11 |
87,611,042 (GRCm38) |
nonsense |
probably null |
|
|
R5566:Mtmr4
|
UTSW |
11 |
87,604,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5833:Mtmr4
|
UTSW |
11 |
87,605,049 (GRCm38) |
nonsense |
probably null |
|
|
R5907:Mtmr4
|
UTSW |
11 |
87,612,050 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5980:Mtmr4
|
UTSW |
11 |
87,604,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6077:Mtmr4
|
UTSW |
11 |
87,611,019 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6434:Mtmr4
|
UTSW |
11 |
87,613,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6521:Mtmr4
|
UTSW |
11 |
87,613,527 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7141:Mtmr4
|
UTSW |
11 |
87,600,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7182:Mtmr4
|
UTSW |
11 |
87,604,605 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7290:Mtmr4
|
UTSW |
11 |
87,611,237 (GRCm38) |
missense |
probably benign |
|
|
R7350:Mtmr4
|
UTSW |
11 |
87,600,650 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7392:Mtmr4
|
UTSW |
11 |
87,604,557 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7447:Mtmr4
|
UTSW |
11 |
87,611,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7530:Mtmr4
|
UTSW |
11 |
87,611,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7660:Mtmr4
|
UTSW |
11 |
87,604,580 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7713:Mtmr4
|
UTSW |
11 |
87,597,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7823:Mtmr4
|
UTSW |
11 |
87,612,189 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7944:Mtmr4
|
UTSW |
11 |
87,604,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7945:Mtmr4
|
UTSW |
11 |
87,604,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8010:Mtmr4
|
UTSW |
11 |
87,598,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8116:Mtmr4
|
UTSW |
11 |
87,611,930 (GRCm38) |
nonsense |
probably null |
|
|
R8544:Mtmr4
|
UTSW |
11 |
87,611,909 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8559:Mtmr4
|
UTSW |
11 |
87,604,124 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8971:Mtmr4
|
UTSW |
11 |
87,602,800 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9562:Mtmr4
|
UTSW |
11 |
87,602,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9673:Mtmr4
|
UTSW |
11 |
87,614,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9673:Mtmr4
|
UTSW |
11 |
87,612,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9797:Mtmr4
|
UTSW |
11 |
87,604,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0062:Mtmr4
|
UTSW |
11 |
87,611,825 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Mtmr4
|
UTSW |
11 |
87,611,880 (GRCm38) |
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