Incidental Mutation 'PIT4802001:Mtmr4'
| ID |
556747 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
PIT4802001 (G1)
|
| Quality Score |
214.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
87482988-87507128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87501953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 669
(V669E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000119628]
|
| AlphaFold |
Q91XS1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092802
AA Change: V612E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: V612E
| 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: ENSMUST00000103179
AA Change: V669E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: V669E
| 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 benign
Transcript: ENSMUST00000119628
AA Change: V669E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: V669E
| 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 |
|
| Coding Region Coverage |
- 1x: 93.6%
- 3x: 91.0%
- 10x: 85.4%
- 20x: 73.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
T |
11: 119,902,172 (GRCm39) |
D741E |
probably benign |
Het |
| Abca16 |
A |
G |
7: 120,139,351 (GRCm39) |
D1461G |
probably benign |
Het |
| Adam6a |
G |
T |
12: 113,509,078 (GRCm39) |
D484Y |
probably damaging |
Het |
| Akap5 |
T |
C |
12: 76,376,706 (GRCm39) |
Y713H |
probably damaging |
Het |
| AW554918 |
A |
G |
18: 25,473,132 (GRCm39) |
E312G |
possibly damaging |
Het |
| Car4 |
G |
A |
11: 84,855,231 (GRCm39) |
A157T |
probably damaging |
Het |
| Chst9 |
A |
T |
18: 15,585,849 (GRCm39) |
M238K |
probably benign |
Het |
| Ctbp2 |
G |
A |
7: 132,589,974 (GRCm39) |
H397Y |
possibly damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,039,611 (GRCm39) |
M295V |
probably benign |
Het |
| Daglb |
T |
C |
5: 143,488,803 (GRCm39) |
Y586H |
probably benign |
Het |
| Ehbp1l1 |
G |
T |
19: 5,769,603 (GRCm39) |
P567T |
possibly damaging |
Het |
| Emilin2 |
A |
G |
17: 71,580,464 (GRCm39) |
I754T |
probably damaging |
Het |
| Esyt2 |
G |
A |
12: 116,329,457 (GRCm39) |
A672T |
probably benign |
Het |
| Evx1 |
G |
T |
6: 52,291,175 (GRCm39) |
E116* |
probably null |
Het |
| Exph5 |
T |
C |
9: 53,286,278 (GRCm39) |
S1120P |
probably damaging |
Het |
| Fam184a |
A |
T |
10: 53,560,450 (GRCm39) |
L515* |
probably null |
Het |
| Flt4 |
T |
A |
11: 49,523,996 (GRCm39) |
D525E |
probably benign |
Het |
| Galt |
T |
C |
4: 41,756,764 (GRCm39) |
W135R |
probably damaging |
Het |
| Ifitm6 |
A |
T |
7: 140,596,648 (GRCm39) |
C42S |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,442,610 (GRCm39) |
S186P |
probably benign |
Het |
| Kcnk3 |
A |
G |
5: 30,779,712 (GRCm39) |
E254G |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,278,996 (GRCm39) |
S1509P |
probably damaging |
Het |
| Ky |
T |
A |
9: 102,414,972 (GRCm39) |
S295T |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,571,801 (GRCm39) |
Y2368* |
probably null |
Het |
| Myh10 |
C |
T |
11: 68,655,918 (GRCm39) |
R471C |
probably damaging |
Het |
| Nav1 |
G |
A |
1: 135,380,671 (GRCm39) |
T1416I |
unknown |
Het |
| Nrip1 |
A |
C |
16: 76,090,157 (GRCm39) |
S467A |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,695,941 (GRCm39) |
N190Y |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,763 (GRCm39) |
L30Q |
probably null |
Het |
| Or5h25 |
A |
C |
16: 58,930,964 (GRCm39) |
M3R |
probably benign |
Het |
| Pdxp |
A |
G |
15: 78,802,611 (GRCm39) |
S282G |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 21,006,904 (GRCm39) |
S220T |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,157,540 (GRCm39) |
V2390E |
probably damaging |
Het |
| Pop1 |
T |
G |
15: 34,529,229 (GRCm39) |
L783R |
probably benign |
Het |
| Prf1 |
G |
A |
10: 61,135,972 (GRCm39) |
A83T |
probably benign |
Het |
| Rab4b |
A |
G |
7: 26,875,267 (GRCm39) |
V50A |
probably benign |
Het |
| Rtn1 |
T |
A |
12: 72,351,100 (GRCm39) |
T370S |
probably benign |
Het |
| Sdr16c5 |
T |
A |
4: 4,012,423 (GRCm39) |
I123F |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 75,046,991 (GRCm39) |
V1228D |
probably damaging |
Het |
| Smim19 |
A |
G |
8: 22,963,539 (GRCm39) |
V23A |
probably benign |
Het |
| Sox13 |
A |
T |
1: 133,313,996 (GRCm39) |
I346N |
probably damaging |
Het |
| Tap1 |
T |
A |
17: 34,412,165 (GRCm39) |
Y457N |
probably damaging |
Het |
| Tbck |
C |
T |
3: 132,458,427 (GRCm39) |
P686S |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,965,010 (GRCm39) |
S570P |
unknown |
Het |
| Tmc5 |
A |
T |
7: 118,271,449 (GRCm39) |
M921L |
probably benign |
Het |
| Ttc6 |
A |
G |
12: 57,772,462 (GRCm39) |
Y1594C |
possibly damaging |
Het |
| Virma |
T |
A |
4: 11,546,008 (GRCm39) |
H1615Q |
probably damaging |
Het |
| Vmn1r19 |
T |
A |
6: 57,382,037 (GRCm39) |
Y197N |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,845,068 (GRCm39) |
F2051L |
probably damaging |
Het |
| Wdr6 |
C |
T |
9: 108,451,765 (GRCm39) |
C706Y |
probably damaging |
Het |
| Zfand4 |
A |
G |
6: 116,261,736 (GRCm39) |
N100D |
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 |
|
|
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 |
|
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'- CATGGATGATCTGCTCTCTGCC -3'
(R):5'- ATCAGAAGTCCTACCCTGCTCC -3'
Sequencing Primer
(F):5'- TGCCTGTGATACAAGCAGC -3'
(R):5'- CTGCTCCTCTTGGGCTGAAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation