Incidental Mutation 'R7660:Mtmr4'
| ID |
591525 |
| 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 |
045735-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R7660 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87592162-87616302 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87604580 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 488
(F488L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000119628]
[ENSMUST00000134216]
|
| AlphaFold |
Q91XS1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092802
AA Change: F488L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: F488L
| 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: F488L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: F488L
| 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: F488L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: F488L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
T |
4: 123,860,719 (GRCm38) |
H142L |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,290,678 (GRCm38) |
E847G |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,115,452 (GRCm38) |
T1276S |
probably benign |
Het |
| Abcb11 |
C |
T |
2: 69,287,594 (GRCm38) |
|
probably null |
Het |
| AF366264 |
A |
T |
8: 13,837,995 (GRCm38) |
I32K |
probably benign |
Het |
| Alpk1 |
G |
C |
3: 127,680,967 (GRCm38) |
H462Q |
probably damaging |
Het |
| Armh1 |
C |
A |
4: 117,213,741 (GRCm38) |
A396S |
probably benign |
Het |
| Atm |
C |
T |
9: 53,445,507 (GRCm38) |
V2815M |
probably benign |
Het |
| Braf |
T |
C |
6: 39,623,641 (GRCm38) |
I681V |
possibly damaging |
Het |
| Casc3 |
C |
G |
11: 98,809,873 (GRCm38) |
R4G |
unknown |
Het |
| Crybg1 |
T |
C |
10: 43,998,835 (GRCm38) |
D759G |
probably damaging |
Het |
| Csrp2 |
A |
G |
10: 110,937,763 (GRCm38) |
N103S |
probably benign |
Het |
| Faf1 |
A |
T |
4: 109,861,837 (GRCm38) |
H380L |
probably damaging |
Het |
| Farp1 |
G |
A |
14: 121,276,922 (GRCm38) |
A888T |
probably benign |
Het |
| Fat4 |
A |
T |
3: 38,981,160 (GRCm38) |
Q2987L |
probably benign |
Het |
| Fkbp15 |
T |
A |
4: 62,314,341 (GRCm38) |
T665S |
probably benign |
Het |
| Gigyf1 |
T |
C |
5: 137,520,969 (GRCm38) |
S343P |
probably benign |
Het |
| Glrx3 |
A |
G |
7: 137,459,225 (GRCm38) |
Y196C |
probably damaging |
Het |
| Gm3278 |
T |
G |
14: 4,893,349 (GRCm38) |
L66R |
probably damaging |
Het |
| Gm8298 |
A |
G |
3: 59,865,268 (GRCm38) |
I64M |
probably benign |
Het |
| Ick |
G |
C |
9: 78,167,620 (GRCm38) |
V586L |
probably benign |
Het |
| Ifi205 |
A |
G |
1: 174,028,248 (GRCm38) |
V72A |
probably benign |
Het |
| Ift140 |
T |
G |
17: 25,051,824 (GRCm38) |
L708R |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,557,338 (GRCm38) |
L328M |
probably benign |
Het |
| Itfg2 |
A |
G |
6: 128,424,746 (GRCm38) |
I23T |
probably damaging |
Het |
| Ldha |
C |
T |
7: 46,850,257 (GRCm38) |
P100S |
unknown |
Het |
| Lmtk2 |
T |
A |
5: 144,148,340 (GRCm38) |
L210H |
probably damaging |
Het |
| Lrrc4 |
T |
A |
6: 28,829,817 (GRCm38) |
I600L |
probably benign |
Het |
| Map2 |
C |
A |
1: 66,414,377 (GRCm38) |
P809T |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,423,728 (GRCm38) |
C577* |
probably null |
Het |
| Matn2 |
A |
G |
15: 34,402,946 (GRCm38) |
K439R |
probably benign |
Het |
| Mep1a |
C |
T |
17: 43,478,977 (GRCm38) |
G494S |
probably benign |
Het |
| Mtus1 |
G |
T |
8: 41,016,211 (GRCm38) |
T8K |
probably benign |
Het |
| Mug1 |
C |
A |
6: 121,861,220 (GRCm38) |
H470N |
possibly damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,548,854 (GRCm38) |
T523A |
possibly damaging |
Het |
| Ncoa3 |
C |
T |
2: 166,069,321 (GRCm38) |
P1334S |
probably benign |
Het |
| Neb |
T |
G |
2: 52,249,439 (GRCm38) |
M119L |
|
Het |
| Nox4 |
T |
C |
7: 87,370,022 (GRCm38) |
Y408H |
probably damaging |
Het |
| Nxpe3 |
C |
T |
16: 55,844,327 (GRCm38) |
R510Q |
probably damaging |
Het |
| Olfr1077-ps1 |
A |
T |
2: 86,525,830 (GRCm38) |
S116T |
possibly damaging |
Het |
| Olfr1275 |
C |
T |
2: 111,231,615 (GRCm38) |
M59I |
probably damaging |
Het |
| Olfr48 |
T |
C |
2: 89,844,443 (GRCm38) |
T177A |
probably benign |
Het |
| Olfr484 |
A |
G |
7: 108,124,834 (GRCm38) |
V143A |
probably benign |
Het |
| Olfr807 |
C |
A |
10: 129,754,563 (GRCm38) |
E296* |
probably null |
Het |
| Olfr839-ps1 |
T |
C |
9: 19,175,508 (GRCm38) |
H56R |
probably benign |
Het |
| Paip1 |
C |
T |
13: 119,450,770 (GRCm38) |
T390I |
possibly damaging |
Het |
| Pax8 |
T |
C |
2: 24,436,561 (GRCm38) |
Y263C |
probably benign |
Het |
| Pcdha11 |
T |
A |
18: 37,005,851 (GRCm38) |
Y178N |
probably benign |
Het |
| Pcdhga11 |
C |
T |
18: 37,757,130 (GRCm38) |
T397M |
possibly damaging |
Het |
| Pdlim5 |
G |
T |
3: 142,259,185 (GRCm38) |
H428N |
probably damaging |
Het |
| Pigg |
G |
A |
5: 108,338,619 (GRCm38) |
V713I |
probably benign |
Het |
| Rgs3 |
A |
G |
4: 62,701,112 (GRCm38) |
D478G |
possibly damaging |
Het |
| Scgb2b11 |
C |
T |
7: 32,210,458 (GRCm38) |
E68K |
probably damaging |
Het |
| Sema4b |
C |
A |
7: 80,220,247 (GRCm38) |
Q428K |
probably benign |
Het |
| Serpine2 |
T |
C |
1: 79,802,905 (GRCm38) |
T276A |
probably benign |
Het |
| Sgo2b |
G |
A |
8: 63,940,074 (GRCm38) |
H110Y |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,806,089 (GRCm38) |
L833S |
probably benign |
Het |
| Slc6a15 |
T |
A |
10: 103,393,380 (GRCm38) |
|
probably null |
Het |
| Srfbp1 |
G |
A |
18: 52,475,599 (GRCm38) |
V24I |
probably damaging |
Het |
| Stpg2 |
A |
T |
3: 139,701,697 (GRCm38) |
N537Y |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,087,782 (GRCm38) |
S1766T |
probably benign |
Het |
| Tiam2 |
T |
A |
17: 3,482,605 (GRCm38) |
M1K |
probably null |
Het |
| Tmem245 |
A |
T |
4: 56,899,170 (GRCm38) |
I661K |
possibly damaging |
Het |
| Trim5 |
T |
C |
7: 104,279,362 (GRCm38) |
H124R |
probably damaging |
Het |
| Trim67 |
T |
A |
8: 124,820,285 (GRCm38) |
L478Q |
probably damaging |
Het |
| Triml2 |
A |
G |
8: 43,193,320 (GRCm38) |
D282G |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 11,087,929 (GRCm38) |
Y579C |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,619,631 (GRCm38) |
D551E |
probably damaging |
Het |
| Vmn1r194 |
T |
C |
13: 22,244,597 (GRCm38) |
V128A |
not run |
Het |
| Vmn2r70 |
T |
G |
7: 85,568,922 (GRCm38) |
N56T |
probably damaging |
Het |
| Vmn2r-ps130 |
T |
A |
17: 23,077,032 (GRCm38) |
D725E |
probably damaging |
Het |
| Wdr95 |
T |
C |
5: 149,594,480 (GRCm38) |
V501A |
possibly damaging |
Het |
| Zc3h8 |
T |
C |
2: 128,930,822 (GRCm38) |
T249A |
probably damaging |
Het |
| Zfp54 |
T |
C |
17: 21,434,239 (GRCm38) |
C332R |
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 |
|
|
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 |
|
|
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 |
|
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'- GACCCAAACCTTTCCAGAGCTG -3'
(R):5'- TAGATGTTGCGCTTCTCTCG -3'
Sequencing Primer
(F):5'- CAGAGCTGCCTTGTGCTTAGAC -3'
(R):5'- TTCTCTCGCTCGCAGGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation