Incidental Mutation 'R7290:Mtmr4'
| ID |
566340 |
| 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 |
045362-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R7290 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
87482988-87507128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87502063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 706
(T706A)
|
| 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: T649A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: T649A
| 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: T706A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: T706A
| 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: T706A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: T706A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,921,714 (GRCm39) |
M1447L |
probably benign |
Het |
| Adam30 |
G |
A |
3: 98,070,257 (GRCm39) |
V697I |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,277,452 (GRCm39) |
N689D |
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,813,906 (GRCm39) |
K753R |
probably benign |
Het |
| Adra2a |
T |
C |
19: 54,034,835 (GRCm39) |
F64L |
probably damaging |
Het |
| Ankub1 |
A |
G |
3: 57,580,345 (GRCm39) |
L104P |
probably damaging |
Het |
| Arel1 |
A |
G |
12: 84,988,719 (GRCm39) |
V10A |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,962,047 (GRCm39) |
N1165K |
probably benign |
Het |
| Atp6v0d2 |
T |
A |
4: 19,880,060 (GRCm39) |
D279V |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,616,099 (GRCm38) |
D310E |
probably damaging |
Het |
| Caskin2 |
T |
C |
11: 115,695,615 (GRCm39) |
I249V |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,212,620 (GRCm39) |
N1598S |
probably benign |
Het |
| Cep250 |
A |
T |
2: 155,834,682 (GRCm39) |
Q2202H |
probably benign |
Het |
| Ces5a |
T |
A |
8: 94,261,311 (GRCm39) |
T35S |
probably damaging |
Het |
| Cnot11 |
G |
A |
1: 39,579,020 (GRCm39) |
W295* |
probably null |
Het |
| Cntnap5a |
G |
T |
1: 116,149,619 (GRCm39) |
W565L |
probably damaging |
Het |
| Dgka |
T |
C |
10: 128,569,468 (GRCm39) |
E148G |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,455,739 (GRCm39) |
D955N |
probably benign |
Het |
| Erbin |
G |
A |
13: 103,998,834 (GRCm39) |
T184I |
probably damaging |
Het |
| Fam20c |
G |
T |
5: 138,793,309 (GRCm39) |
G477W |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fgfr4 |
T |
C |
13: 55,309,262 (GRCm39) |
V433A |
probably benign |
Het |
| Gal3st1 |
A |
T |
11: 3,948,093 (GRCm39) |
Q100L |
possibly damaging |
Het |
| Gfra2 |
T |
C |
14: 71,163,380 (GRCm39) |
F221S |
probably damaging |
Het |
| Gm19965 |
G |
A |
1: 116,748,921 (GRCm39) |
V201M |
|
Het |
| Gnb1l |
A |
T |
16: 18,382,806 (GRCm39) |
T282S |
probably benign |
Het |
| Gpr171 |
A |
T |
3: 59,005,147 (GRCm39) |
N209K |
probably benign |
Het |
| Greb1 |
G |
A |
12: 16,761,739 (GRCm39) |
T547I |
probably damaging |
Het |
| Ifi214 |
A |
T |
1: 173,357,097 (GRCm39) |
V2E |
probably benign |
Het |
| Ighv1-71 |
T |
C |
12: 115,706,267 (GRCm39) |
M1V |
probably null |
Het |
| Itm2b |
C |
T |
14: 73,605,785 (GRCm39) |
G67D |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,851,432 (GRCm39) |
C995* |
probably null |
Het |
| Kifc2 |
A |
T |
15: 76,544,904 (GRCm39) |
Y13F |
probably damaging |
Het |
| Lamb1 |
T |
A |
12: 31,315,595 (GRCm39) |
V59D |
probably benign |
Het |
| Lhx1 |
A |
T |
11: 84,412,703 (GRCm39) |
D163E |
probably damaging |
Het |
| Lrrc1 |
A |
T |
9: 77,365,121 (GRCm39) |
Y187N |
probably benign |
Het |
| Map3k1 |
C |
A |
13: 111,904,645 (GRCm39) |
V380F |
probably damaging |
Het |
| Mapk11 |
T |
C |
15: 89,028,511 (GRCm39) |
D283G |
probably damaging |
Het |
| Mccc2 |
G |
T |
13: 100,091,207 (GRCm39) |
A430D |
probably damaging |
Het |
| Mest |
A |
G |
6: 30,747,158 (GRCm39) |
N340S |
unknown |
Het |
| Mms22l |
T |
C |
4: 24,517,139 (GRCm39) |
L340P |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,087,808 (GRCm39) |
Y110C |
possibly damaging |
Het |
| Muc21 |
G |
A |
17: 35,929,761 (GRCm39) |
A1475V |
unknown |
Het |
| Ncstn |
A |
G |
1: 171,900,373 (GRCm39) |
F234S |
probably benign |
Het |
| Nrp1 |
T |
C |
8: 129,202,777 (GRCm39) |
|
probably null |
Het |
| Nup37 |
T |
G |
10: 88,010,356 (GRCm39) |
C217G |
probably damaging |
Het |
| Or8g22 |
A |
G |
9: 38,958,694 (GRCm39) |
L7P |
unknown |
Het |
| Pdzrn3 |
T |
C |
6: 101,128,206 (GRCm39) |
N820S |
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,587,225 (GRCm39) |
F117Y |
possibly damaging |
Het |
| Phip |
A |
T |
9: 82,753,346 (GRCm39) |
F1799L |
possibly damaging |
Het |
| Ppm1f |
T |
A |
16: 16,728,819 (GRCm39) |
F74I |
probably benign |
Het |
| Prpf8 |
C |
A |
11: 75,384,783 (GRCm39) |
N775K |
possibly damaging |
Het |
| Ptdss2 |
T |
C |
7: 140,731,693 (GRCm39) |
I167T |
possibly damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,501,892 (GRCm39) |
|
probably null |
Het |
| Rbl2 |
C |
A |
8: 91,841,669 (GRCm39) |
A955D |
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,420,146 (GRCm39) |
S366P |
possibly damaging |
Het |
| Rit2 |
A |
T |
18: 31,376,221 (GRCm39) |
M38K |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,801,408 (GRCm39) |
M1011V |
probably benign |
Het |
| Senp6 |
A |
T |
9: 80,043,797 (GRCm39) |
E809D |
probably benign |
Het |
| Stard3 |
G |
A |
11: 98,269,045 (GRCm39) |
|
probably null |
Het |
| Taar3 |
T |
G |
10: 23,826,298 (GRCm39) |
Y281* |
probably null |
Het |
| Tacc2 |
G |
T |
7: 130,331,103 (GRCm39) |
K352N |
probably benign |
Het |
| Tamalin |
G |
A |
15: 101,129,419 (GRCm39) |
S234N |
probably damaging |
Het |
| Tasor |
T |
A |
14: 27,160,610 (GRCm39) |
I124N |
probably damaging |
Het |
| Tdpoz4 |
G |
A |
3: 93,704,155 (GRCm39) |
V151I |
not run |
Het |
| Tenm2 |
A |
G |
11: 35,914,298 (GRCm39) |
L2413P |
probably damaging |
Het |
| Tgm6 |
T |
C |
2: 129,983,110 (GRCm39) |
V233A |
probably damaging |
Het |
| Tlx3 |
G |
A |
11: 33,153,514 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Trim23 |
C |
A |
13: 104,323,941 (GRCm39) |
H133Q |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,640,356 (GRCm39) |
D1421V |
probably damaging |
Het |
| Vmn1r172 |
A |
G |
7: 23,360,048 (GRCm39) |
N311S |
unknown |
Het |
| Vps25 |
T |
A |
11: 101,149,775 (GRCm39) |
L153Q |
probably damaging |
Het |
| Wbp1l |
G |
T |
19: 46,611,876 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,970,558 (GRCm39) |
I291V |
possibly damaging |
Het |
| Zfp2 |
A |
G |
11: 50,791,570 (GRCm39) |
C158R |
probably damaging |
Het |
| Zfp786 |
G |
A |
6: 47,796,929 (GRCm39) |
P670S |
probably damaging |
Het |
| Zfp827 |
G |
A |
8: 79,916,442 (GRCm39) |
R339H |
possibly damaging |
Het |
| Zmym6 |
C |
T |
4: 127,017,294 (GRCm39) |
A1025V |
possibly 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 |
|
|
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 |
|
|
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'- TAACCACTCTCAGGAGGTCAGAG -3'
(R):5'- CTTGCTAGAGACACTGCAGAG -3'
Sequencing Primer
(F):5'- AGGTCAGAGGCAGCCTG -3'
(R):5'- CTGCAGAGTGAGCTGACAGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation