Incidental Mutation 'R6434:Mtmr4'
| ID |
518713 |
| 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 |
044572-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R6434 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87482988-87507128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87504309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1086
(D1086G)
|
| 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: D1029G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: D1029G
| 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: D1086G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: D1086G
| 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: D1086G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: D1086G
| 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 |
0.0792 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alcam |
A |
C |
16: 52,109,190 (GRCm39) |
|
probably null |
Het |
| Ankle2 |
A |
G |
5: 110,401,759 (GRCm39) |
Y807C |
probably damaging |
Het |
| Arhgef26 |
A |
C |
3: 62,336,335 (GRCm39) |
M625L |
probably damaging |
Het |
| Aspdh |
G |
A |
7: 44,116,474 (GRCm39) |
A86T |
probably damaging |
Het |
| Atl1 |
G |
T |
12: 70,006,199 (GRCm39) |
E502* |
probably null |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,790 (GRCm39) |
F105S |
probably damaging |
Het |
| Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
| Ccdc81 |
T |
C |
7: 89,525,352 (GRCm39) |
Y474C |
probably damaging |
Het |
| Ccdc82 |
T |
C |
9: 13,251,659 (GRCm39) |
|
probably benign |
Het |
| Ccdc96 |
T |
G |
5: 36,643,707 (GRCm39) |
V571G |
probably damaging |
Het |
| Col6a5 |
C |
A |
9: 105,814,544 (GRCm39) |
E489D |
unknown |
Het |
| Dchs2 |
T |
A |
3: 83,176,577 (GRCm39) |
I845N |
probably damaging |
Het |
| Dnajc11 |
T |
C |
4: 152,063,751 (GRCm39) |
V449A |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,193,268 (GRCm39) |
Y269* |
probably null |
Het |
| Egfr |
T |
C |
11: 16,819,294 (GRCm39) |
Y275H |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,004,129 (GRCm39) |
D779V |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,123,942 (GRCm39) |
V200A |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,884,253 (GRCm39) |
I1214T |
probably benign |
Het |
| Gm3415 |
T |
A |
5: 146,494,752 (GRCm39) |
F138L |
probably benign |
Het |
| Gtse1 |
C |
A |
15: 85,759,370 (GRCm39) |
T626K |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,393,464 (GRCm39) |
H4114Q |
probably damaging |
Het |
| Ifi44 |
T |
A |
3: 151,454,826 (GRCm39) |
N133I |
probably benign |
Het |
| Ilf3 |
A |
G |
9: 21,314,447 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
A |
G |
1: 37,437,919 (GRCm39) |
T593A |
probably damaging |
Het |
| Iqgap2 |
A |
T |
13: 95,819,441 (GRCm39) |
W634R |
possibly damaging |
Het |
| Kcnh4 |
T |
A |
11: 100,641,105 (GRCm39) |
N448I |
probably damaging |
Het |
| Klhl33 |
G |
A |
14: 51,130,564 (GRCm39) |
A310V |
probably damaging |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Lrig2 |
T |
C |
3: 104,398,863 (GRCm39) |
K222E |
possibly damaging |
Het |
| Manba |
G |
A |
3: 135,217,734 (GRCm39) |
|
probably null |
Het |
| Mga |
A |
T |
2: 119,754,419 (GRCm39) |
Q976L |
probably damaging |
Het |
| Muc20 |
A |
G |
16: 32,615,176 (GRCm39) |
V67A |
probably benign |
Het |
| Myh3 |
T |
A |
11: 66,973,193 (GRCm39) |
L97Q |
probably damaging |
Het |
| Nars1 |
T |
C |
18: 64,640,872 (GRCm39) |
T195A |
probably benign |
Het |
| Npat |
A |
T |
9: 53,474,739 (GRCm39) |
I844L |
possibly damaging |
Het |
| Nrxn3 |
T |
C |
12: 88,762,285 (GRCm39) |
F111L |
probably benign |
Het |
| Obp2b |
T |
C |
2: 25,628,599 (GRCm39) |
Y118H |
probably damaging |
Het |
| Or5w1 |
T |
A |
2: 87,486,558 (GRCm39) |
K236* |
probably null |
Het |
| Or7e170 |
A |
T |
9: 19,795,141 (GRCm39) |
Y153* |
probably null |
Het |
| Patj |
A |
G |
4: 98,379,866 (GRCm39) |
D215G |
probably damaging |
Het |
| Pex1 |
T |
A |
5: 3,680,196 (GRCm39) |
Y979* |
probably null |
Het |
| Septin3 |
G |
A |
15: 82,163,804 (GRCm39) |
V54I |
possibly damaging |
Het |
| Shc3 |
A |
G |
13: 51,603,326 (GRCm39) |
Y260H |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,674,477 (GRCm39) |
T942A |
probably benign |
Het |
| Slco1c1 |
T |
C |
6: 141,493,576 (GRCm39) |
S371P |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,080,574 (GRCm39) |
I2029N |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,268,422 (GRCm39) |
V2089A |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,088,230 (GRCm39) |
S5016P |
probably damaging |
Het |
| Tril |
G |
C |
6: 53,795,493 (GRCm39) |
D576E |
probably damaging |
Het |
| Tubb2b |
C |
T |
13: 34,311,561 (GRCm39) |
A411T |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,156,949 (GRCm39) |
Y2325H |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,608,395 (GRCm39) |
C1547* |
probably null |
Het |
| Utrn |
A |
T |
10: 12,401,171 (GRCm39) |
W98R |
probably damaging |
Het |
| Vps35 |
C |
T |
8: 86,000,124 (GRCm39) |
D501N |
possibly damaging |
Het |
| Wdr48 |
T |
C |
9: 119,745,879 (GRCm39) |
S421P |
possibly damaging |
Het |
| Yju2b |
A |
G |
8: 84,989,630 (GRCm39) |
I63T |
probably damaging |
Het |
| Zfp719 |
C |
A |
7: 43,240,412 (GRCm39) |
H667N |
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 |
|
|
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 |
|
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'- GCTTCATAGTATTCAGGTGATGC -3'
(R):5'- TTGGTGACTACTTGCCTAAAAGG -3'
Sequencing Primer
(F):5'- AGACAACTATTGTGTGGCCC -3'
(R):5'- GCCTAAAAGGATAGTACTTATCTGGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation