Incidental Mutation 'R7350:Mtmr4'
| ID |
570523 |
| 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 |
045436-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R7350 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
87592162-87616302 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87600650 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 147
(H147L)
|
| 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: H147L
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: H147L
| 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: H147L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: H147L
| 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: H147L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: H147L
| 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: H161L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119660
Gene: ENSMUSG00000018401
AA Change: H161L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
140 |
204 |
6.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146871
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930017K11Rik |
A |
T |
17: 25,946,711 (GRCm38) |
V534D |
probably damaging |
Het |
| Abraxas2 |
T |
C |
7: 132,874,849 (GRCm38) |
F106S |
probably damaging |
Het |
| Acsf3 |
A |
G |
8: 122,785,946 (GRCm38) |
T369A |
probably benign |
Het |
| Adgrf5 |
G |
A |
17: 43,428,444 (GRCm38) |
|
probably null |
Het |
| Aff1 |
T |
A |
5: 103,847,092 (GRCm38) |
I1052K |
probably benign |
Het |
| Akap8 |
T |
C |
17: 32,316,575 (GRCm38) |
D155G |
possibly damaging |
Het |
| Alg10b |
A |
T |
15: 90,227,450 (GRCm38) |
M166L |
probably benign |
Het |
| Allc |
T |
A |
12: 28,563,409 (GRCm38) |
Q178L |
possibly damaging |
Het |
| Angptl4 |
C |
A |
17: 33,777,110 (GRCm38) |
L297F |
probably damaging |
Het |
| Arfgap1 |
A |
G |
2: 180,971,076 (GRCm38) |
K8E |
possibly damaging |
Het |
| Bckdhb |
T |
A |
9: 84,010,326 (GRCm38) |
V270E |
possibly damaging |
Het |
| Cbx3 |
T |
C |
6: 51,475,375 (GRCm38) |
|
probably null |
Het |
| Cd44 |
G |
T |
2: 102,834,262 (GRCm38) |
N531K |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,410,910 (GRCm38) |
D916E |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 195,155,286 (GRCm38) |
V792A |
probably benign |
Het |
| Cstf3 |
T |
C |
2: 104,608,956 (GRCm38) |
L38P |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,836,783 (GRCm38) |
E151G |
probably benign |
Het |
| Dbr1 |
T |
C |
9: 99,582,549 (GRCm38) |
F127S |
|
Het |
| Ddit4 |
A |
T |
10: 59,951,495 (GRCm38) |
D6E |
probably damaging |
Het |
| Disc1 |
G |
C |
8: 125,165,102 (GRCm38) |
R631S |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,235,819 (GRCm38) |
|
probably null |
Het |
| Dnah9 |
T |
C |
11: 66,080,578 (GRCm38) |
K1595E |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,901,505 (GRCm38) |
R608G |
probably damaging |
Het |
| Efcab5 |
G |
C |
11: 77,137,561 (GRCm38) |
P315A |
probably benign |
Het |
| Eif4a2 |
A |
G |
16: 23,113,262 (GRCm38) |
Y392C |
possibly damaging |
Het |
| F5 |
G |
T |
1: 164,192,708 (GRCm38) |
K917N |
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,251,756 (GRCm38) |
M571V |
probably benign |
Het |
| Flot2 |
T |
A |
11: 78,057,976 (GRCm38) |
I259N |
probably damaging |
Het |
| Gm8122 |
C |
A |
14: 43,230,601 (GRCm38) |
|
probably null |
Het |
| Gpr152 |
T |
C |
19: 4,142,964 (GRCm38) |
V168A |
possibly damaging |
Het |
| H1f0 |
G |
A |
15: 79,028,903 (GRCm38) |
G61D |
probably damaging |
Het |
| Ihh |
T |
A |
1: 74,948,333 (GRCm38) |
K183M |
probably damaging |
Het |
| Itga2 |
A |
G |
13: 114,837,202 (GRCm38) |
L1116P |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,369,260 (GRCm38) |
T114A |
possibly damaging |
Het |
| Kcnk3 |
T |
G |
5: 30,621,966 (GRCm38) |
L120R |
probably damaging |
Het |
| Krt14 |
C |
A |
11: 100,205,100 (GRCm38) |
E211* |
probably null |
Het |
| Lars2 |
T |
C |
9: 123,427,480 (GRCm38) |
L350P |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,351,902 (GRCm38) |
I1408T |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 139,226,106 (GRCm38) |
E229G |
probably benign |
Het |
| Lrrc8e |
G |
T |
8: 4,235,626 (GRCm38) |
R617L |
probably benign |
Het |
| M1ap |
A |
G |
6: 82,981,949 (GRCm38) |
D187G |
probably benign |
Het |
| March1 |
A |
T |
8: 66,468,399 (GRCm38) |
K243* |
probably null |
Het |
| Med16 |
C |
T |
10: 79,903,197 (GRCm38) |
V252M |
probably damaging |
Het |
| Micu3 |
T |
C |
8: 40,348,958 (GRCm38) |
S189P |
probably benign |
Het |
| Mier2 |
C |
A |
10: 79,540,298 (GRCm38) |
M264I |
unknown |
Het |
| Mindy4 |
A |
T |
6: 55,301,025 (GRCm38) |
N618I |
probably damaging |
Het |
| Mmrn1 |
C |
T |
6: 60,976,336 (GRCm38) |
Q534* |
probably null |
Het |
| Mroh9 |
C |
T |
1: 163,076,289 (GRCm38) |
|
probably null |
Het |
| Ms4a6d |
G |
A |
19: 11,590,073 (GRCm38) |
Q155* |
probably null |
Het |
| Mta3 |
T |
A |
17: 83,708,441 (GRCm38) |
I24N |
probably damaging |
Het |
| Nfam1 |
T |
C |
15: 83,010,439 (GRCm38) |
K155R |
probably benign |
Het |
| Nlrp6 |
A |
T |
7: 140,921,278 (GRCm38) |
|
probably benign |
Het |
| Olfr1006 |
A |
G |
2: 85,674,845 (GRCm38) |
F102S |
|
Het |
| Olfr1153 |
T |
C |
2: 87,896,409 (GRCm38) |
|
probably benign |
Het |
| Olfr1164 |
A |
T |
2: 88,093,198 (GRCm38) |
F246Y |
probably benign |
Het |
| Olfr213 |
A |
G |
6: 116,540,534 (GRCm38) |
E27G |
probably benign |
Het |
| Olfr357 |
T |
A |
2: 36,996,861 (GRCm38) |
I17N |
possibly damaging |
Het |
| P4ha1 |
A |
G |
10: 59,350,418 (GRCm38) |
R240G |
probably damaging |
Het |
| Pla2r1 |
G |
T |
2: 60,458,379 (GRCm38) |
D636E |
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,741,060 (GRCm38) |
L1060P |
possibly damaging |
Het |
| Ptgdr2 |
C |
A |
19: 10,940,955 (GRCm38) |
Q279K |
probably benign |
Het |
| Rab11fip2 |
T |
A |
19: 59,937,421 (GRCm38) |
R121S |
probably benign |
Het |
| Rasa2 |
T |
C |
9: 96,544,355 (GRCm38) |
S813G |
probably benign |
Het |
| Rassf5 |
T |
C |
1: 131,178,536 (GRCm38) |
K411E |
possibly damaging |
Het |
| Reep4 |
T |
C |
14: 70,546,547 (GRCm38) |
Y35H |
probably damaging |
Het |
| Ror1 |
A |
T |
4: 100,425,943 (GRCm38) |
M402L |
probably benign |
Het |
| Slc32a1 |
A |
G |
2: 158,614,406 (GRCm38) |
E327G |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,479,385 (GRCm38) |
E644K |
unknown |
Het |
| Tarsl2 |
C |
G |
7: 65,658,924 (GRCm38) |
Q281E |
probably damaging |
Het |
| Tcl1 |
A |
G |
12: 105,218,675 (GRCm38) |
I92T |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,176,307 (GRCm38) |
S108P |
probably damaging |
Het |
| Traf1 |
T |
C |
2: 34,948,233 (GRCm38) |
N198D |
probably benign |
Het |
| Trim35 |
T |
C |
14: 66,309,205 (GRCm38) |
Y474H |
probably damaging |
Het |
| Trim54 |
T |
A |
5: 31,137,161 (GRCm38) |
D344E |
probably benign |
Het |
| Ttc28 |
A |
T |
5: 111,226,037 (GRCm38) |
H1113L |
probably damaging |
Het |
| Vcam1 |
T |
A |
3: 116,114,562 (GRCm38) |
D617V |
probably damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,268,385 (GRCm38) |
T281S |
probably benign |
Het |
| Whrn |
C |
T |
4: 63,431,959 (GRCm38) |
R507K |
possibly damaging |
Het |
| Zdhhc14 |
A |
G |
17: 5,726,876 (GRCm38) |
S303G |
probably benign |
Het |
| Zfp292 |
A |
T |
4: 34,806,839 (GRCm38) |
N2073K |
probably benign |
Het |
| Zgpat |
T |
A |
2: 181,380,435 (GRCm38) |
V163D |
|
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 |
|
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 |
|
|
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'- CATGGCCTGTCAATCCCTTG -3'
(R):5'- CGAGACTCTCCAGACATTCTGC -3'
Sequencing Primer
(F):5'- TGCCTCATCCAAGCCTGTGG -3'
(R):5'- GACTCTCCAGACATTCTGCAGGTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation