Incidental Mutation 'R7713:Mtmr4'
| ID |
594743 |
| 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 |
045771-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R7713 (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 C
at 87488550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 68
(V68A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000119628]
[ENSMUST00000123105]
[ENSMUST00000134216]
[ENSMUST00000146871]
|
| AlphaFold |
Q91XS1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092802
AA Change: V68A
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: V68A
| 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: V68A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: V68A
| 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: V68A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: V68A
| 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 damaging
Transcript: ENSMUST00000123105
AA Change: V68A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134216
AA Change: V82A
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119660
Gene: ENSMUSG00000018401
AA Change: V82A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
140 |
204 |
6.4e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146871
AA Change: V68A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,066,173 (GRCm39) |
S119P |
possibly damaging |
Het |
| Agtpbp1 |
T |
A |
13: 59,661,966 (GRCm39) |
I282F |
probably damaging |
Het |
| Armh1 |
A |
T |
4: 117,071,425 (GRCm39) |
M355K |
possibly damaging |
Het |
| Cep128 |
A |
T |
12: 90,986,096 (GRCm39) |
D1013E |
probably benign |
Het |
| Clock |
A |
T |
5: 76,393,267 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
T |
G |
13: 113,483,075 (GRCm39) |
V1559G |
|
Het |
| D630003M21Rik |
G |
A |
2: 158,058,698 (GRCm39) |
Q401* |
probably null |
Het |
| Dnah17 |
C |
A |
11: 117,915,997 (GRCm39) |
V4302L |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,261,386 (GRCm39) |
Y179C |
probably benign |
Het |
| Erbb3 |
T |
C |
10: 128,410,318 (GRCm39) |
T647A |
probably benign |
Het |
| Esrp2 |
T |
C |
8: 106,860,908 (GRCm39) |
T205A |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,874,872 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,356,159 (GRCm39) |
P965S |
unknown |
Het |
| Fndc7 |
C |
T |
3: 108,777,979 (GRCm39) |
V412M |
possibly damaging |
Het |
| G2e3 |
C |
A |
12: 51,415,839 (GRCm39) |
A525E |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,918,371 (GRCm39) |
R354C |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,508 (GRCm39) |
N510K |
probably damaging |
Het |
| Gnas |
C |
T |
2: 174,140,820 (GRCm39) |
T389I |
unknown |
Het |
| Hapln3 |
C |
T |
7: 78,767,121 (GRCm39) |
R306H |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,320,444 (GRCm39) |
L4496P |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,867,952 (GRCm39) |
I219L |
probably benign |
Het |
| Kcnj2 |
T |
C |
11: 110,963,309 (GRCm39) |
S234P |
probably benign |
Het |
| Lipf |
T |
A |
19: 33,950,465 (GRCm39) |
S286T |
probably damaging |
Het |
| Lrrc32 |
G |
T |
7: 98,148,545 (GRCm39) |
G442W |
probably damaging |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
T |
C |
6: 122,055,754 (GRCm39) |
S1146P |
possibly damaging |
Het |
| Naa35 |
T |
C |
13: 59,745,919 (GRCm39) |
I75T |
probably benign |
Het |
| Nepn |
T |
A |
10: 52,277,274 (GRCm39) |
F337I |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,316,432 (GRCm39) |
M496V |
probably benign |
Het |
| Nthl1 |
A |
T |
17: 24,857,631 (GRCm39) |
I277F |
possibly damaging |
Het |
| Or10a3 |
A |
C |
7: 108,479,889 (GRCm39) |
I308S |
probably damaging |
Het |
| Or4p8 |
T |
C |
2: 88,728,122 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
T |
12: 9,629,253 (GRCm39) |
Y42F |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,594,422 (GRCm39) |
R369W |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,465,691 (GRCm39) |
T4828S |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 109,010,133 (GRCm39) |
C211S |
probably damaging |
Het |
| Ube4b |
C |
T |
4: 149,483,238 (GRCm39) |
R10Q |
possibly damaging |
Het |
| Usp9y |
G |
A |
Y: 1,304,411 (GRCm39) |
Q2440* |
probably null |
Het |
| Yars1 |
G |
T |
4: 129,104,291 (GRCm39) |
V312L |
probably benign |
Het |
| Zfp26 |
G |
A |
9: 20,352,630 (GRCm39) |
T145I |
probably benign |
Het |
| Zic5 |
T |
C |
14: 122,701,525 (GRCm39) |
N402S |
unknown |
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 |
|
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'- TTTCCTCAGGGCTGCTATAGAG -3'
(R):5'- ACTGAGCAAGCGGGTTGAC -3'
Sequencing Primer
(F):5'- TACAGGTACCCTTCACAG -3'
(R):5'- GGTGAGACACATCTTTGATCCCAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation