Incidental Mutation 'R4616:Mtmr4'
ID |
386332 |
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 |
041827-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.299)
|
Stock # |
R4616 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
87482988-87507128 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87501761 bp (GRCm39)
|
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: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acod1 |
C |
T |
14: 103,292,781 (GRCm39) |
T435M |
probably benign |
Het |
Adgrf5 |
T |
C |
17: 43,763,331 (GRCm39) |
F1078L |
probably benign |
Het |
Adh6a |
A |
T |
3: 138,030,708 (GRCm39) |
N110I |
probably damaging |
Het |
Aldh16a1 |
T |
C |
7: 44,798,212 (GRCm39) |
|
probably benign |
Het |
Aopep |
G |
A |
13: 63,446,565 (GRCm39) |
E123K |
probably damaging |
Het |
Arhgef17 |
A |
G |
7: 100,531,692 (GRCm39) |
F1302S |
probably damaging |
Het |
Bcl2a1a |
C |
T |
9: 88,839,506 (GRCm39) |
R135W |
probably damaging |
Het |
Bpifa6 |
T |
C |
2: 153,824,908 (GRCm39) |
S28P |
possibly damaging |
Het |
C9 |
A |
G |
15: 6,520,944 (GRCm39) |
D51G |
probably damaging |
Het |
Cfb |
T |
A |
17: 35,078,044 (GRCm39) |
H962L |
probably benign |
Het |
Chn2 |
G |
A |
6: 54,267,388 (GRCm39) |
M292I |
probably damaging |
Het |
Clec16a |
T |
A |
16: 10,462,747 (GRCm39) |
|
probably null |
Het |
Cyp1a1 |
T |
C |
9: 57,609,039 (GRCm39) |
S307P |
probably benign |
Het |
Dsg3 |
T |
C |
18: 20,664,616 (GRCm39) |
V538A |
probably benign |
Het |
Erbb3 |
G |
A |
10: 128,408,639 (GRCm39) |
Q815* |
probably null |
Het |
Fam90a1a |
C |
A |
8: 22,453,862 (GRCm39) |
Q406K |
possibly damaging |
Het |
Frmd3 |
T |
C |
4: 74,106,109 (GRCm39) |
V585A |
probably benign |
Het |
Gm8214 |
T |
C |
1: 183,414,094 (GRCm39) |
|
noncoding transcript |
Het |
Gpld1 |
G |
A |
13: 25,168,799 (GRCm39) |
G771D |
probably damaging |
Het |
Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
Gria2 |
A |
T |
3: 80,614,204 (GRCm39) |
I612N |
probably damaging |
Het |
Ifit1bl1 |
T |
C |
19: 34,572,010 (GRCm39) |
E149G |
probably damaging |
Het |
Ighv1-82 |
T |
C |
12: 115,916,280 (GRCm39) |
T77A |
probably benign |
Het |
Ighv2-9 |
G |
T |
12: 113,842,839 (GRCm39) |
T76K |
probably damaging |
Het |
Igkv6-13 |
A |
T |
6: 70,435,019 (GRCm39) |
M1K |
probably null |
Het |
Igkv8-21 |
A |
T |
6: 70,292,141 (GRCm39) |
S34T |
probably benign |
Het |
Itpr1 |
A |
G |
6: 108,458,184 (GRCm39) |
N1985D |
probably damaging |
Het |
Jkampl |
A |
G |
6: 73,446,252 (GRCm39) |
V99A |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,637,454 (GRCm39) |
|
probably null |
Het |
Lamc2 |
T |
C |
1: 153,041,915 (GRCm39) |
Y73C |
probably damaging |
Het |
Maff |
A |
G |
15: 79,241,898 (GRCm39) |
D105G |
probably damaging |
Het |
Mep1a |
C |
T |
17: 43,797,132 (GRCm39) |
V312M |
possibly damaging |
Het |
Mfap4 |
C |
A |
11: 61,376,335 (GRCm39) |
|
probably benign |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mrgbp |
A |
T |
2: 180,227,107 (GRCm39) |
|
silent |
Het |
Myo7b |
T |
C |
18: 32,136,540 (GRCm39) |
|
probably null |
Het |
Myo9a |
T |
C |
9: 59,728,932 (GRCm39) |
I596T |
probably damaging |
Het |
Or2f1b |
G |
T |
6: 42,739,352 (GRCm39) |
R122L |
probably benign |
Het |
Or52e3 |
C |
T |
7: 102,869,629 (GRCm39) |
R235* |
probably null |
Het |
Pcsk5 |
T |
G |
19: 17,538,114 (GRCm39) |
Q904H |
probably benign |
Het |
Pdzrn3 |
G |
T |
6: 101,128,970 (GRCm39) |
H565Q |
probably damaging |
Het |
Phkg2 |
C |
T |
7: 127,176,792 (GRCm39) |
R61W |
probably damaging |
Het |
Pkd2l1 |
C |
A |
19: 44,142,573 (GRCm39) |
A490S |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,012,087 (GRCm39) |
I337N |
probably damaging |
Het |
Psmd3 |
T |
C |
11: 98,573,752 (GRCm39) |
V66A |
probably benign |
Het |
Ptger3 |
T |
C |
3: 157,272,931 (GRCm39) |
S93P |
probably damaging |
Het |
Rbm27 |
T |
A |
18: 42,434,840 (GRCm39) |
D301E |
probably damaging |
Het |
Rdh16 |
A |
T |
10: 127,637,382 (GRCm39) |
|
probably null |
Het |
Slc35a5 |
A |
T |
16: 44,964,655 (GRCm39) |
F193I |
probably benign |
Het |
Slc4a4 |
A |
G |
5: 89,186,420 (GRCm39) |
K167R |
probably damaging |
Het |
Sort1 |
A |
T |
3: 108,262,857 (GRCm39) |
T772S |
possibly damaging |
Het |
Sptbn5 |
T |
A |
2: 119,879,238 (GRCm39) |
|
noncoding transcript |
Het |
Stard5 |
G |
T |
7: 83,282,489 (GRCm39) |
|
probably benign |
Het |
Tbc1d22a |
A |
G |
15: 86,119,886 (GRCm39) |
T61A |
probably damaging |
Het |
Tox2 |
T |
C |
2: 163,162,567 (GRCm39) |
L479P |
probably damaging |
Het |
Usp53 |
A |
T |
3: 122,752,769 (GRCm39) |
M80K |
probably damaging |
Het |
Vmn1r209 |
A |
T |
13: 22,990,135 (GRCm39) |
L185Q |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,661,862 (GRCm39) |
I651T |
probably benign |
Het |
Vsig1 |
G |
T |
X: 139,827,135 (GRCm39) |
A95S |
probably benign |
Het |
Zfhx4 |
T |
C |
3: 5,478,127 (GRCm39) |
S3556P |
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 |
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 |
|
R7290:Mtmr4
|
UTSW |
11 |
87,502,063 (GRCm39) |
missense |
probably benign |
|
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'- GCTAAGCATTCTGGAAGATGAGTATG -3'
(R):5'- AGGAGGAAGGCCCATTTCTC -3'
Sequencing Primer
(F):5'- GTCTTATCCTTTGTGCAGAGTAGAC -3'
(R):5'- TGGGCTTCCAACTCCAGAGTC -3'
|
Posted On |
2016-05-11 |