Incidental Mutation 'R4615:Mtmr4'
| ID |
500672 |
| 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 |
| MMRRC Submission |
041826-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R4615 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
87592162-87616302 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87610935 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 548
(L548S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000119628]
|
| AlphaFold |
Q91XS1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092802
AA Change: L548S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: L548S
| 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 |
possibly damaging
Transcript: ENSMUST00000103179
AA Change: L605S
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: L605S
| 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 |
possibly damaging
Transcript: ENSMUST00000119628
AA Change: L605S
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: L605S
| 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 |
0.0626 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,330,334 (GRCm38) |
I363V |
probably benign |
Het |
| Abcc9 |
C |
G |
6: 142,689,107 (GRCm38) |
A144P |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,494,569 (GRCm38) |
|
probably null |
Het |
| Adprhl1 |
A |
G |
8: 13,242,250 (GRCm38) |
|
probably null |
Het |
| Angptl3 |
A |
T |
4: 99,031,361 (GRCm38) |
E119D |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,553,099 (GRCm38) |
N671S |
probably null |
Het |
| C9 |
A |
G |
15: 6,491,463 (GRCm38) |
D51G |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 105,695,074 (GRCm38) |
D1019G |
possibly damaging |
Het |
| Cdh8 |
A |
T |
8: 99,279,622 (GRCm38) |
I111K |
probably damaging |
Het |
| Cep120 |
T |
C |
18: 53,714,841 (GRCm38) |
R649G |
probably damaging |
Het |
| Clptm1l |
A |
T |
13: 73,607,738 (GRCm38) |
K158* |
probably null |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 104,309,470 (GRCm38) |
|
probably benign |
Het |
| Cnga1 |
A |
C |
5: 72,604,774 (GRCm38) |
L466V |
probably damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,596,937 (GRCm38) |
T1240A |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,428,749 (GRCm38) |
S1117P |
probably damaging |
Het |
| Cyp2b9 |
T |
A |
7: 26,201,125 (GRCm38) |
L396Q |
probably damaging |
Het |
| Cyp8b1 |
A |
T |
9: 121,916,098 (GRCm38) |
L56* |
probably null |
Het |
| Dcbld2 |
A |
G |
16: 58,456,094 (GRCm38) |
T458A |
probably benign |
Het |
| Dio2 |
G |
T |
12: 90,729,821 (GRCm38) |
P131Q |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,158,168 (GRCm38) |
Y990C |
probably damaging |
Het |
| Dsc3 |
T |
C |
18: 19,971,488 (GRCm38) |
D594G |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,191,632 (GRCm38) |
E1131G |
probably damaging |
Het |
| Fdx1 |
A |
T |
9: 51,948,645 (GRCm38) |
Y21* |
probably null |
Het |
| Gal3st4 |
A |
G |
5: 138,266,263 (GRCm38) |
V158A |
probably damaging |
Het |
| Gm10269 |
T |
A |
18: 20,682,763 (GRCm38) |
E67D |
probably benign |
Het |
| Gm5773 |
A |
G |
3: 93,774,032 (GRCm38) |
H337R |
probably benign |
Het |
| Gng2 |
C |
T |
14: 19,891,327 (GRCm38) |
V16I |
possibly damaging |
Het |
| Gpr20 |
T |
C |
15: 73,695,736 (GRCm38) |
N268S |
probably benign |
Het |
| Ighv1-82 |
T |
C |
12: 115,952,660 (GRCm38) |
T77A |
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,662,382 (GRCm38) |
E1091G |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 26,981,524 (GRCm38) |
V3110F |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,175,926 (GRCm38) |
G24R |
unknown |
Het |
| Ncapg |
A |
T |
5: 45,687,399 (GRCm38) |
M579L |
probably benign |
Het |
| Oog3 |
A |
T |
4: 144,158,329 (GRCm38) |
Y346N |
probably benign |
Het |
| Or10ak14 |
T |
C |
4: 118,754,137 (GRCm38) |
T134A |
probably benign |
Het |
| Or14c39 |
T |
C |
7: 86,694,728 (GRCm38) |
S91P |
probably damaging |
Het |
| Orm2 |
A |
G |
4: 63,363,299 (GRCm38) |
D89G |
probably damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,308,500 (GRCm38) |
S288T |
probably benign |
Het |
| Pcsk2 |
G |
T |
2: 143,795,969 (GRCm38) |
C375F |
probably damaging |
Het |
| Pdcd10 |
T |
C |
3: 75,521,091 (GRCm38) |
I138M |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 81,320,737 (GRCm38) |
W536R |
probably damaging |
Het |
| Phkg2 |
C |
T |
7: 127,577,620 (GRCm38) |
R61W |
probably damaging |
Het |
| Plcl1 |
A |
T |
1: 55,698,134 (GRCm38) |
N878I |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,663,074 (GRCm38) |
D353V |
probably damaging |
Het |
| Psme4 |
C |
T |
11: 30,834,287 (GRCm38) |
T954I |
probably benign |
Het |
| Ran |
A |
G |
5: 129,022,098 (GRCm38) |
I115V |
probably benign |
Het |
| Reln |
A |
G |
5: 21,972,872 (GRCm38) |
L1867P |
possibly damaging |
Het |
| S100a1 |
A |
G |
3: 90,511,255 (GRCm38) |
V84A |
possibly damaging |
Het |
| Sall2 |
G |
A |
14: 52,312,750 (GRCm38) |
P994L |
probably benign |
Het |
| Shtn1 |
A |
T |
19: 59,022,216 (GRCm38) |
I273N |
probably benign |
Het |
| Slc17a9 |
T |
C |
2: 180,731,906 (GRCm38) |
I40T |
probably benign |
Het |
| Slc29a2 |
T |
C |
19: 5,029,264 (GRCm38) |
V305A |
probably damaging |
Het |
| Taar2 |
T |
A |
10: 23,941,365 (GRCm38) |
F268I |
probably benign |
Het |
| Taf3 |
G |
A |
2: 9,952,090 (GRCm38) |
T422I |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,585,156 (GRCm38) |
F99L |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,320,647 (GRCm38) |
L479P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,766,875 (GRCm38) |
I19898T |
probably damaging |
Het |
| Ulk1 |
G |
T |
5: 110,789,046 (GRCm38) |
T3N |
probably damaging |
Het |
| Vars1 |
A |
T |
17: 35,013,881 (GRCm38) |
K900N |
probably damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,293,482 (GRCm38) |
V170A |
possibly damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,582,302 (GRCm38) |
L530Q |
probably damaging |
Het |
| Zar1l |
G |
T |
5: 150,518,063 (GRCm38) |
Q33K |
probably benign |
Het |
| Zdhhc16 |
T |
C |
19: 41,943,683 (GRCm38) |
V358A |
possibly 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 |
|
|
PIT4802001:Mtmr4
|
UTSW |
11 |
87,611,127 (GRCm38) |
missense |
probably benign |
|
|
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 |
|
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'- GACAGCTAAGCATTCTGGAAGATG -3'
(R):5'- AAGGCCCATTTCTCCCACAG -3'
Sequencing Primer
(F):5'- AGCATTCTGGAAGATGAGTATGTC -3'
(R):5'- TGGGCTTCCAACTCCAGAGTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation