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 zinc finger phosphatase, ESTM44, FYVE-DSP2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
PIT4802001 (G1)
|
| Quality Score |
214.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
87592162-87616302 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87611127 bp (GRCm38)
|
| 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: 120,011,346 (GRCm38) |
D741E |
probably benign |
Het |
| Abca16 |
A |
G |
7: 120,540,128 (GRCm38) |
D1461G |
probably benign |
Het |
| Adam6a |
G |
T |
12: 113,545,458 (GRCm38) |
D484Y |
probably damaging |
Het |
| Akap5 |
T |
C |
12: 76,329,932 (GRCm38) |
Y713H |
probably damaging |
Het |
| AW554918 |
A |
G |
18: 25,340,075 (GRCm38) |
E312G |
possibly damaging |
Het |
| Car4 |
G |
A |
11: 84,964,405 (GRCm38) |
A157T |
probably damaging |
Het |
| Chst9 |
A |
T |
18: 15,452,792 (GRCm38) |
M238K |
probably benign |
Het |
| Ctbp2 |
G |
A |
7: 132,988,245 (GRCm38) |
H397Y |
possibly damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,102,801 (GRCm38) |
M295V |
probably benign |
Het |
| Daglb |
T |
C |
5: 143,503,048 (GRCm38) |
Y586H |
probably benign |
Het |
| Ehbp1l1 |
G |
T |
19: 5,719,575 (GRCm38) |
P567T |
possibly damaging |
Het |
| Emilin2 |
A |
G |
17: 71,273,469 (GRCm38) |
I754T |
probably damaging |
Het |
| Esyt2 |
G |
A |
12: 116,365,837 (GRCm38) |
A672T |
probably benign |
Het |
| Evx1 |
G |
T |
6: 52,314,190 (GRCm38) |
E116* |
probably null |
Het |
| Exph5 |
T |
C |
9: 53,374,978 (GRCm38) |
S1120P |
probably damaging |
Het |
| Fam184a |
A |
T |
10: 53,684,354 (GRCm38) |
L515* |
probably null |
Het |
| Flt4 |
T |
A |
11: 49,633,169 (GRCm38) |
D525E |
probably benign |
Het |
| Galt |
T |
C |
4: 41,756,764 (GRCm38) |
W135R |
probably damaging |
Het |
| Ifitm6 |
A |
T |
7: 141,016,735 (GRCm38) |
C42S |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,285,266 (GRCm38) |
S186P |
probably benign |
Het |
| Kcnk3 |
A |
G |
5: 30,622,368 (GRCm38) |
E254G |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,579,571 (GRCm38) |
S1509P |
probably damaging |
Het |
| Ky |
T |
A |
9: 102,537,773 (GRCm38) |
S295T |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,664,494 (GRCm38) |
Y2368* |
probably null |
Het |
| Myh10 |
C |
T |
11: 68,765,092 (GRCm38) |
R471C |
probably damaging |
Het |
| Nav1 |
G |
A |
1: 135,452,933 (GRCm38) |
T1416I |
unknown |
Het |
| Nrip1 |
A |
C |
16: 76,293,269 (GRCm38) |
S467A |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,788,634 (GRCm38) |
N190Y |
probably damaging |
Het |
| Olfr193 |
A |
C |
16: 59,110,601 (GRCm38) |
M3R |
probably benign |
Het |
| Olfr294 |
A |
T |
7: 86,616,555 (GRCm38) |
L30Q |
probably null |
Het |
| Pdxp |
A |
G |
15: 78,918,411 (GRCm38) |
S282G |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 20,801,906 (GRCm38) |
S220T |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,024,469 (GRCm38) |
V2390E |
probably damaging |
Het |
| Pop1 |
T |
G |
15: 34,529,083 (GRCm38) |
L783R |
probably benign |
Het |
| Prf1 |
G |
A |
10: 61,300,193 (GRCm38) |
A83T |
probably benign |
Het |
| Rab4b |
A |
G |
7: 27,175,842 (GRCm38) |
V50A |
probably benign |
Het |
| Rtn1 |
T |
A |
12: 72,304,326 (GRCm38) |
T370S |
probably benign |
Het |
| Sdr16c5 |
T |
A |
4: 4,012,423 (GRCm38) |
I123F |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 75,156,165 (GRCm38) |
V1228D |
probably damaging |
Het |
| Smim19 |
A |
G |
8: 22,473,523 (GRCm38) |
V23A |
probably benign |
Het |
| Sox13 |
A |
T |
1: 133,386,258 (GRCm38) |
I346N |
probably damaging |
Het |
| Tap1 |
T |
A |
17: 34,193,191 (GRCm38) |
Y457N |
probably damaging |
Het |
| Tbck |
C |
T |
3: 132,752,666 (GRCm38) |
P686S |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,831,938 (GRCm38) |
S570P |
unknown |
Het |
| Tmc5 |
A |
T |
7: 118,672,226 (GRCm38) |
M921L |
probably benign |
Het |
| Ttc6 |
A |
G |
12: 57,725,676 (GRCm38) |
Y1594C |
possibly damaging |
Het |
| Virma |
T |
A |
4: 11,546,008 (GRCm38) |
H1615Q |
probably damaging |
Het |
| Vmn1r19 |
T |
A |
6: 57,405,052 (GRCm38) |
Y197N |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,937,786 (GRCm38) |
F2051L |
probably damaging |
Het |
| Wdr6 |
C |
T |
9: 108,574,566 (GRCm38) |
C706Y |
probably damaging |
Het |
| Zfand4 |
A |
G |
6: 116,284,775 (GRCm38) |
N100D |
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 |
|
|
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 |
|
|
R5502:Mtmr4
|
UTSW |
11 |
87,614,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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'- CATGGATGATCTGCTCTCTGCC -3'
(R):5'- ATCAGAAGTCCTACCCTGCTCC -3'
Sequencing Primer
(F):5'- TGCCTGTGATACAAGCAGC -3'
(R):5'- CTGCTCCTCTTGGGCTGAAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation