Incidental Mutation 'R2040:Mtmr4'
| ID |
225556 |
| 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 |
040047-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R2040 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87592162-87616302 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87605090 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 527
(M527T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000119628]
[ENSMUST00000134216]
|
| AlphaFold |
Q91XS1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092802
AA Change: M527T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: M527T
| 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: M584T
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: M584T
| 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: M584T
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: M584T
| 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: ENSMUST00000134216
|
| SMART Domains |
Protein: ENSMUSP00000119660
Gene: ENSMUSG00000018401
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
140 |
204 |
6.4e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.0762 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
T |
5: 107,545,741 (GRCm38) |
I75L |
probably benign |
Het |
| Abca2 |
T |
C |
2: 25,443,805 (GRCm38) |
L1755P |
probably damaging |
Het |
| Adam6b |
A |
T |
12: 113,490,744 (GRCm38) |
I394L |
probably benign |
Het |
| Ano2 |
T |
A |
6: 126,039,508 (GRCm38) |
N1001K |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,748,916 (GRCm38) |
N253K |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,728,131 (GRCm38) |
C1316R |
probably benign |
Het |
| Atox1 |
T |
C |
11: 55,450,517 (GRCm38) |
Y64C |
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 69,807,052 (GRCm38) |
T1098A |
possibly damaging |
Het |
| Casr |
T |
C |
16: 36,510,366 (GRCm38) |
E202G |
possibly damaging |
Het |
| Cct2 |
T |
C |
10: 117,053,113 (GRCm38) |
T494A |
probably benign |
Het |
| Cd209e |
T |
A |
8: 3,849,158 (GRCm38) |
N185Y |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 86,032,887 (GRCm38) |
L295P |
probably damaging |
Het |
| Cyp26a1 |
A |
G |
19: 37,698,051 (GRCm38) |
T48A |
possibly damaging |
Het |
| Elovl3 |
A |
G |
19: 46,133,128 (GRCm38) |
S37G |
probably benign |
Het |
| Fbxo18 |
T |
G |
2: 11,769,895 (GRCm38) |
D13A |
possibly damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,022,334 (GRCm38) |
|
probably null |
Het |
| Frem3 |
G |
T |
8: 80,615,826 (GRCm38) |
V1583L |
possibly damaging |
Het |
| Gm21863 |
C |
A |
12: 19,954,514 (GRCm38) |
Q4K |
possibly damaging |
Het |
| Gm266 |
T |
C |
12: 111,485,698 (GRCm38) |
T25A |
possibly damaging |
Het |
| Gm8674 |
T |
C |
13: 49,901,669 (GRCm38) |
|
noncoding transcript |
Het |
| Greb1 |
T |
C |
12: 16,702,650 (GRCm38) |
H897R |
probably damaging |
Het |
| Hells |
A |
G |
19: 38,955,030 (GRCm38) |
D565G |
probably damaging |
Het |
| Hfm1 |
C |
T |
5: 106,901,818 (GRCm38) |
V426I |
probably damaging |
Het |
| Ints6 |
G |
A |
14: 62,713,689 (GRCm38) |
T297I |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,651,738 (GRCm38) |
|
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,569,420 (GRCm38) |
M2628K |
probably damaging |
Het |
| Ktn1 |
T |
G |
14: 47,700,612 (GRCm38) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,641,222 (GRCm38) |
D1230E |
probably benign |
Het |
| Mboat1 |
T |
C |
13: 30,241,317 (GRCm38) |
|
probably null |
Het |
| Moxd2 |
T |
C |
6: 40,884,953 (GRCm38) |
|
probably null |
Het |
| Myt1 |
T |
A |
2: 181,825,924 (GRCm38) |
N1050K |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,406,080 (GRCm38) |
V1768E |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,420,082 (GRCm38) |
C48Y |
probably damaging |
Het |
| Olfr372 |
T |
A |
8: 72,057,763 (GRCm38) |
F28I |
possibly damaging |
Het |
| Olfr535 |
T |
C |
7: 140,493,382 (GRCm38) |
I248T |
probably benign |
Het |
| Opn3 |
G |
A |
1: 175,663,579 (GRCm38) |
A296V |
possibly damaging |
Het |
| Pam |
T |
C |
1: 97,864,442 (GRCm38) |
E418G |
possibly damaging |
Het |
| Prrc2c |
A |
T |
1: 162,697,557 (GRCm38) |
N493K |
probably damaging |
Het |
| Ptpn18 |
A |
G |
1: 34,470,219 (GRCm38) |
Q165R |
probably damaging |
Het |
| Ptpro |
C |
A |
6: 137,386,164 (GRCm38) |
|
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,786,322 (GRCm38) |
F132S |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,933,742 (GRCm38) |
C244R |
probably damaging |
Het |
| Robo3 |
A |
C |
9: 37,427,464 (GRCm38) |
V316G |
probably damaging |
Het |
| Rsl1 |
T |
C |
13: 67,182,081 (GRCm38) |
S198P |
probably damaging |
Het |
| Rsph9 |
T |
C |
17: 46,134,984 (GRCm38) |
D220G |
probably damaging |
Het |
| Rxfp2 |
A |
C |
5: 150,070,212 (GRCm38) |
I580L |
probably benign |
Het |
| Sept7 |
G |
A |
9: 25,288,236 (GRCm38) |
A144T |
possibly damaging |
Het |
| Sfn |
T |
C |
4: 133,601,292 (GRCm38) |
K160E |
probably benign |
Het |
| Ski |
A |
G |
4: 155,221,572 (GRCm38) |
Y317H |
probably damaging |
Het |
| Slc22a22 |
A |
T |
15: 57,247,540 (GRCm38) |
Y430* |
probably null |
Het |
| Src |
A |
G |
2: 157,457,110 (GRCm38) |
K9R |
probably benign |
Het |
| Srm |
C |
T |
4: 148,593,996 (GRCm38) |
P255L |
possibly damaging |
Het |
| Stpg4 |
T |
A |
17: 87,422,647 (GRCm38) |
N90I |
probably damaging |
Het |
| Sytl2 |
T |
A |
7: 90,381,861 (GRCm38) |
|
probably benign |
Het |
| Tbpl2 |
T |
C |
2: 24,094,859 (GRCm38) |
K92R |
probably benign |
Het |
| Tmem38a |
T |
A |
8: 72,581,252 (GRCm38) |
N178K |
probably damaging |
Het |
| Tmem56 |
G |
T |
3: 121,231,326 (GRCm38) |
|
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 19,008,152 (GRCm38) |
D160G |
possibly damaging |
Het |
| Ttc37 |
A |
C |
13: 76,180,103 (GRCm38) |
R1423S |
probably damaging |
Het |
| Vegfb |
T |
A |
19: 6,986,039 (GRCm38) |
H119L |
possibly damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,548,414 (GRCm38) |
I701F |
probably damaging |
Het |
| Vmn2r95 |
C |
T |
17: 18,441,299 (GRCm38) |
L436F |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,623,372 (GRCm38) |
C394R |
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,855,174 (GRCm38) |
Y16* |
probably null |
Het |
| Zer1 |
G |
A |
2: 30,108,274 (GRCm38) |
L342F |
probably damaging |
Het |
| Zfp353-ps |
A |
G |
8: 42,082,296 (GRCm38) |
|
noncoding transcript |
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 |
|
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'- AGCCAGTGAAAGAATGTCTAGC -3'
(R):5'- GGCTAGCTCCTCAAGTGATTCAAG -3'
Sequencing Primer
(F):5'- CCAGTGAAAGAATGTCTAGCCAAATG -3'
(R):5'- AGCTCTACATGTACGCTGTGGC -3'
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| Posted On |
2014-08-25 |
Incidental Mutation