Incidental Mutation 'R7530:Mtmr4'
| ID |
583272 |
| 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 |
045602-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R7530 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87482988-87507128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87502702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 919
(R919W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000119628]
|
| AlphaFold |
Q91XS1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092802
AA Change: R862W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: R862W
| 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: R919W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: R919W
| 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: R919W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: R919W
| 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 |
0.0972 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
C |
T |
2: 155,845,840 (GRCm39) |
V6I |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,423,724 (GRCm39) |
T230A |
probably benign |
Het |
| Atp5mc2 |
A |
T |
15: 102,576,183 (GRCm39) |
M1K |
probably null |
Het |
| Atp8a1 |
A |
C |
5: 67,902,971 (GRCm39) |
L535R |
|
Het |
| Bsn |
A |
G |
9: 107,989,155 (GRCm39) |
I2199T |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,824,915 (GRCm39) |
T155A |
|
Het |
| Cdc42bpg |
T |
G |
19: 6,372,305 (GRCm39) |
F1430L |
probably benign |
Het |
| Cdc42bpg |
G |
T |
19: 6,372,306 (GRCm39) |
V1431L |
probably benign |
Het |
| Chat |
A |
T |
14: 32,130,915 (GRCm39) |
Y575* |
probably null |
Het |
| Cimip4 |
T |
C |
15: 78,270,516 (GRCm39) |
D84G |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,945,589 (GRCm39) |
C842S |
probably damaging |
Het |
| Coq2 |
T |
C |
5: 100,822,008 (GRCm39) |
S34G |
probably benign |
Het |
| Crybg1 |
C |
T |
10: 43,875,069 (GRCm39) |
A680T |
possibly damaging |
Het |
| Ctsr |
T |
A |
13: 61,310,931 (GRCm39) |
K38N |
probably damaging |
Het |
| Dpm2 |
T |
C |
2: 32,462,313 (GRCm39) |
F33S |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,815,317 (GRCm39) |
M1322T |
probably damaging |
Het |
| Ext2 |
T |
A |
2: 93,491,998 (GRCm39) |
H564L |
probably benign |
Het |
| Fbxl2 |
G |
T |
9: 113,818,241 (GRCm39) |
H202N |
probably benign |
Het |
| Fra10ac1 |
A |
T |
19: 38,204,353 (GRCm39) |
Y74* |
probably null |
Het |
| Greb1 |
T |
A |
12: 16,767,207 (GRCm39) |
I332F |
probably benign |
Het |
| Ifnar2 |
A |
G |
16: 91,201,201 (GRCm39) |
S481G |
probably benign |
Het |
| Igkv9-123 |
G |
A |
6: 67,931,381 (GRCm39) |
P62S |
possibly damaging |
Het |
| Iqub |
T |
C |
6: 24,450,622 (GRCm39) |
Q659R |
probably benign |
Het |
| Kansl2 |
T |
C |
15: 98,426,896 (GRCm39) |
T242A |
probably benign |
Het |
| Kif28 |
C |
T |
1: 179,536,045 (GRCm39) |
G543D |
probably benign |
Het |
| Lsg1 |
A |
G |
16: 30,401,419 (GRCm39) |
S93P |
possibly damaging |
Het |
| Med23 |
T |
A |
10: 24,781,851 (GRCm39) |
C1052S |
probably benign |
Het |
| Mgam |
G |
T |
6: 40,686,152 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
G |
T |
7: 141,367,536 (GRCm39) |
V2986L |
possibly damaging |
Het |
| Myo5b |
A |
G |
18: 74,864,802 (GRCm39) |
E1340G |
probably benign |
Het |
| Nkd2 |
T |
C |
13: 73,995,078 (GRCm39) |
D40G |
possibly damaging |
Het |
| Nudt5 |
T |
C |
2: 5,869,179 (GRCm39) |
L135S |
probably damaging |
Het |
| Oca2 |
A |
C |
7: 55,981,720 (GRCm39) |
D614A |
probably damaging |
Het |
| Or1e16 |
A |
G |
11: 73,279,189 (GRCm39) |
V221A |
possibly damaging |
Het |
| Or6c201 |
A |
C |
10: 128,969,849 (GRCm39) |
|
probably null |
Het |
| Or8k24 |
T |
A |
2: 86,216,515 (GRCm39) |
L82F |
probably damaging |
Het |
| Plec |
C |
A |
15: 76,069,844 (GRCm39) |
A991S |
unknown |
Het |
| Plekhg2 |
G |
A |
7: 28,061,353 (GRCm39) |
R817C |
probably damaging |
Het |
| Plrg1 |
T |
A |
3: 82,965,989 (GRCm39) |
L48H |
probably damaging |
Het |
| Prx |
A |
G |
7: 27,207,397 (GRCm39) |
E18G |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,069,945 (GRCm39) |
Y1479C |
probably damaging |
Het |
| Rap1b |
A |
T |
10: 117,653,357 (GRCm39) |
Y159* |
probably null |
Het |
| Rbck1 |
T |
C |
2: 152,166,212 (GRCm39) |
E242G |
possibly damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,557,768 (GRCm39) |
D570G |
probably benign |
Het |
| Slc35f5 |
G |
T |
1: 125,512,275 (GRCm39) |
L358F |
probably damaging |
Het |
| Smarcd2 |
A |
G |
11: 106,156,587 (GRCm39) |
W274R |
probably damaging |
Het |
| Spata6l |
A |
T |
19: 28,926,121 (GRCm39) |
Y43* |
probably null |
Het |
| Ssu72 |
A |
G |
4: 155,815,786 (GRCm39) |
T77A |
probably benign |
Het |
| Tomm40 |
G |
A |
7: 19,436,829 (GRCm39) |
T297I |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,558,522 (GRCm39) |
I1743N |
probably damaging |
Het |
| Utp20 |
G |
A |
10: 88,588,868 (GRCm39) |
R2434C |
probably 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 |
|
|
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 |
|
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'- TGTGCCGGATCTGATCTACAAG -3'
(R):5'- TGACTGGAAAACCACATCCGG -3'
Sequencing Primer
(F):5'- TCTGATCTACAAGAAGGAGGATGCTG -3'
(R):5'- ACCACATCCGGTTGTTCTTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation