Incidental Mutation 'R8010:Mtmr4'
| ID |
616868 |
| 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 |
046050-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R8010 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
87482988-87507128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 87489690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 71
(V71G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099468
(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: V71G
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: V71G
| 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 damaging
Transcript: ENSMUST00000103179
AA Change: V71G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: V71G
| 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: V71G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: V71G
| 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 damaging
Transcript: ENSMUST00000134216
AA Change: V85G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119660
Gene: ENSMUSG00000018401
AA Change: V85G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
140 |
204 |
6.4e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146871
AA Change: V71G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,557,303 (GRCm39) |
H130L |
probably benign |
Het |
| Abca1 |
A |
G |
4: 53,127,600 (GRCm39) |
S140P |
probably benign |
Het |
| Aoc1 |
T |
C |
6: 48,882,582 (GRCm39) |
Y153H |
probably benign |
Het |
| Arhgdib |
A |
G |
6: 136,903,720 (GRCm39) |
I118T |
probably damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,680,070 (GRCm39) |
E865V |
possibly damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,670,878 (GRCm39) |
V587A |
probably benign |
Het |
| Ccdc107 |
G |
T |
4: 43,495,768 (GRCm39) |
E199* |
probably null |
Het |
| Cd55 |
A |
T |
1: 130,387,353 (GRCm39) |
D148E |
probably benign |
Het |
| Cdc42ep1 |
C |
T |
15: 78,731,999 (GRCm39) |
T148I |
possibly damaging |
Het |
| Cep164 |
A |
T |
9: 45,734,969 (GRCm39) |
D19E |
unknown |
Het |
| Chsy3 |
A |
G |
18: 59,543,226 (GRCm39) |
Y788C |
probably damaging |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,340,897 (GRCm39) |
|
probably null |
Het |
| Ddr1 |
T |
A |
17: 36,002,384 (GRCm39) |
M175L |
possibly damaging |
Het |
| Dicer1 |
C |
A |
12: 104,658,391 (GRCm39) |
K1850N |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,475,611 (GRCm39) |
R495C |
probably benign |
Het |
| Ecpas |
T |
A |
4: 58,832,681 (GRCm39) |
Q893L |
unknown |
Het |
| Fbh1 |
A |
T |
2: 11,772,443 (GRCm39) |
N79K |
probably benign |
Het |
| Frmpd1 |
T |
A |
4: 45,284,272 (GRCm39) |
V1031D |
possibly damaging |
Het |
| Gm7298 |
A |
G |
6: 121,712,542 (GRCm39) |
E118G |
probably benign |
Het |
| Hnrnpll |
T |
C |
17: 80,369,385 (GRCm39) |
T13A |
unknown |
Het |
| Jcad |
A |
G |
18: 4,674,581 (GRCm39) |
D781G |
probably benign |
Het |
| Kitl |
A |
T |
10: 99,887,765 (GRCm39) |
T25S |
probably benign |
Het |
| Krt5 |
T |
C |
15: 101,620,791 (GRCm39) |
D152G |
probably damaging |
Het |
| Krtap5-5 |
T |
C |
7: 141,783,648 (GRCm39) |
M1V |
probably null |
Het |
| Ktn1 |
C |
T |
14: 47,943,230 (GRCm39) |
T862I |
possibly damaging |
Het |
| Mapk4 |
A |
T |
18: 74,063,647 (GRCm39) |
I525N |
probably benign |
Het |
| Megf6 |
T |
C |
4: 154,354,964 (GRCm39) |
F1457S |
probably benign |
Het |
| Mrm3 |
A |
T |
11: 76,141,173 (GRCm39) |
S394C |
probably damaging |
Het |
| Nek8 |
T |
C |
11: 78,067,422 (GRCm39) |
Y4C |
probably damaging |
Het |
| Or13g1 |
T |
A |
7: 85,956,260 (GRCm39) |
E20D |
probably benign |
Het |
| Or5ac21 |
T |
C |
16: 59,123,867 (GRCm39) |
M117T |
probably damaging |
Het |
| Or7g30 |
A |
T |
9: 19,352,988 (GRCm39) |
I260L |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,345,304 (GRCm39) |
T351A |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,749,480 (GRCm39) |
T49M |
probably benign |
Het |
| Psg20 |
T |
C |
7: 18,414,992 (GRCm39) |
D301G |
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,707,803 (GRCm39) |
Q1455* |
probably null |
Het |
| Rbbp8 |
A |
T |
18: 11,855,290 (GRCm39) |
N505I |
possibly damaging |
Het |
| Rgs18 |
A |
G |
1: 144,631,738 (GRCm39) |
C125R |
probably benign |
Het |
| Rpap2 |
G |
A |
5: 107,751,471 (GRCm39) |
C105Y |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,490,233 (GRCm39) |
G570R |
possibly damaging |
Het |
| Sell |
C |
T |
1: 163,893,081 (GRCm39) |
T99I |
possibly damaging |
Het |
| Slc14a1 |
A |
T |
18: 78,159,704 (GRCm39) |
M63K |
probably benign |
Het |
| Sp140l2 |
G |
A |
1: 85,224,671 (GRCm39) |
S288L |
possibly damaging |
Het |
| Syne2 |
A |
T |
12: 75,977,512 (GRCm39) |
D1319V |
probably benign |
Het |
| Tdp2 |
C |
T |
13: 25,020,010 (GRCm39) |
T99I |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,380,228 (GRCm39) |
S647T |
unknown |
Het |
| Tpd52l1 |
T |
G |
10: 31,234,009 (GRCm39) |
D48A |
possibly damaging |
Het |
| Ttll10 |
T |
C |
4: 156,131,618 (GRCm39) |
D169G |
probably damaging |
Het |
| Wars2 |
C |
A |
3: 99,124,146 (GRCm39) |
L336I |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,693,584 (GRCm39) |
W2906L |
|
Het |
| Xdh |
A |
T |
17: 74,216,312 (GRCm39) |
Y711* |
probably null |
Het |
| Xirp1 |
T |
A |
9: 119,846,890 (GRCm39) |
R664S |
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 |
|
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 |
|
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'- AACTGGTGACATTCTGGCAG -3'
(R):5'- CCTTCTGACTAAGAACGGGG -3'
Sequencing Primer
(F):5'- TGACATTCTGGCAGCACCC -3'
(R):5'- GGAGTCGATCCTCTTACTCCAAGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation