Incidental Mutation 'R7823:Mtmr4'
| ID |
602021 |
| 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 |
045877-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R7823 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87482988-87507128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 87503015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 1023
(I1023S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000093956]
[ENSMUST00000103179]
[ENSMUST00000119628]
|
| AlphaFold |
Q91XS1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092802
AA Change: I966S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: I966S
| 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: ENSMUST00000093956
|
| SMART Domains |
Protein: ENSMUSP00000091488
Gene: ENSMUSG00000070345
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
11 |
153 |
2.35e-9 |
SMART |
|
Blast:HSF
|
163 |
423 |
1e-149 |
BLAST |
|
low complexity region
|
442 |
457 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103179
AA Change: I1023S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: I1023S
| 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: I1023S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: I1023S
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
G |
14: 118,771,484 (GRCm39) |
V869A |
probably benign |
Het |
| Alox15 |
C |
A |
11: 70,235,494 (GRCm39) |
V623L |
possibly damaging |
Het |
| Angpt4 |
T |
G |
2: 151,753,286 (GRCm39) |
L12R |
unknown |
Het |
| Cdh24 |
C |
T |
14: 54,874,875 (GRCm39) |
A42T |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,807,336 (GRCm39) |
S234T |
possibly damaging |
Het |
| Clnk |
T |
A |
5: 38,907,694 (GRCm39) |
Y188F |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,103,698 (GRCm39) |
T306S |
|
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Dgka |
T |
A |
10: 128,572,135 (GRCm39) |
Y50F |
probably benign |
Het |
| Dgkh |
C |
T |
14: 78,841,921 (GRCm39) |
V434I |
probably benign |
Het |
| Epb41 |
A |
G |
4: 131,701,993 (GRCm39) |
|
probably null |
Het |
| Fam220a |
A |
G |
5: 143,549,011 (GRCm39) |
D141G |
probably damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,300,610 (GRCm39) |
L807S |
probably damaging |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Ggt1 |
G |
A |
10: 75,410,175 (GRCm39) |
V36M |
possibly damaging |
Het |
| Gjb2 |
T |
C |
14: 57,337,963 (GRCm39) |
I82V |
probably benign |
Het |
| Gm7579 |
T |
A |
7: 141,766,307 (GRCm39) |
C238S |
unknown |
Het |
| Hps1 |
G |
A |
19: 42,744,146 (GRCm39) |
T681M |
possibly damaging |
Het |
| Iqck |
T |
C |
7: 118,472,046 (GRCm39) |
Y64H |
probably damaging |
Het |
| Ldlr |
G |
A |
9: 21,653,602 (GRCm39) |
|
probably null |
Het |
| Macc1 |
A |
C |
12: 119,410,800 (GRCm39) |
K523Q |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,868,559 (GRCm39) |
I498N |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,442,319 (GRCm39) |
E373G |
probably damaging |
Het |
| Mthfr |
T |
C |
4: 148,135,944 (GRCm39) |
I314T |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,719,233 (GRCm39) |
F507I |
probably damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,523,468 (GRCm39) |
M671L |
probably benign |
Het |
| Nt5c1a |
T |
C |
4: 123,102,365 (GRCm39) |
V97A |
probably damaging |
Het |
| Nxpe5 |
A |
G |
5: 138,237,844 (GRCm39) |
R123G |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,998,766 (GRCm39) |
S1369G |
probably damaging |
Het |
| Oga |
A |
G |
19: 45,765,354 (GRCm39) |
V151A |
possibly damaging |
Het |
| Or4a75 |
A |
G |
2: 89,447,613 (GRCm39) |
*308Q |
probably null |
Het |
| Or52m2 |
A |
G |
7: 102,264,164 (GRCm39) |
S11P |
probably benign |
Het |
| Or5b99 |
A |
T |
19: 12,976,781 (GRCm39) |
I144F |
probably damaging |
Het |
| Or6c33 |
T |
A |
10: 129,854,136 (GRCm39) |
M302K |
probably benign |
Het |
| Or6k2 |
A |
G |
1: 173,987,254 (GRCm39) |
K305R |
probably benign |
Het |
| Or8b57 |
A |
T |
9: 40,003,644 (GRCm39) |
V202E |
probably damaging |
Het |
| Pak6 |
G |
A |
2: 118,525,793 (GRCm39) |
A618T |
probably benign |
Het |
| Pax7 |
T |
A |
4: 139,468,150 (GRCm39) |
E489V |
probably benign |
Het |
| Phactr4 |
G |
A |
4: 132,088,930 (GRCm39) |
R651* |
probably null |
Het |
| Pik3c2b |
C |
T |
1: 133,030,043 (GRCm39) |
R1435C |
probably damaging |
Het |
| Pla2g4c |
A |
T |
7: 13,063,944 (GRCm39) |
I68F |
probably damaging |
Het |
| Plppr1 |
A |
G |
4: 49,325,703 (GRCm39) |
M300V |
probably benign |
Het |
| Ptgfrn |
C |
T |
3: 100,950,725 (GRCm39) |
V863I |
probably damaging |
Het |
| Rabep2 |
T |
C |
7: 126,037,893 (GRCm39) |
S222P |
probably damaging |
Het |
| Ramacl |
A |
G |
13: 67,055,351 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
A |
T |
19: 53,831,785 (GRCm39) |
D673V |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
C |
A |
11: 106,233,334 (GRCm39) |
A413S |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,135 (GRCm39) |
M1850K |
probably damaging |
Het |
| Sh3tc2 |
T |
A |
18: 62,086,188 (GRCm39) |
M1K |
probably null |
Het |
| Slc22a28 |
G |
A |
19: 8,041,890 (GRCm39) |
T439I |
probably benign |
Het |
| Slc25a36 |
A |
G |
9: 96,966,444 (GRCm39) |
|
probably null |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Spata3 |
T |
C |
1: 85,949,781 (GRCm39) |
|
probably benign |
Het |
| Srp68 |
C |
T |
11: 116,156,265 (GRCm39) |
R159Q |
probably damaging |
Het |
| Ssbp2 |
C |
A |
13: 91,790,448 (GRCm39) |
L104I |
possibly damaging |
Het |
| St8sia3 |
T |
A |
18: 64,400,027 (GRCm39) |
F7L |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,532,587 (GRCm39) |
V2948A |
probably damaging |
Het |
| Syne4 |
A |
G |
7: 30,018,280 (GRCm39) |
T341A |
probably benign |
Het |
| Tcf7l2 |
T |
A |
19: 55,731,521 (GRCm39) |
D91E |
possibly damaging |
Het |
| Tekt5 |
T |
A |
16: 10,203,943 (GRCm39) |
I236F |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,144,133 (GRCm39) |
Y316H |
probably damaging |
Het |
| Tmem184b |
C |
T |
15: 79,249,491 (GRCm39) |
A326T |
probably benign |
Het |
| Tnks2 |
G |
A |
19: 36,829,954 (GRCm39) |
|
probably null |
Het |
| Trpc4 |
C |
A |
3: 54,209,640 (GRCm39) |
Y668* |
probably null |
Het |
| Ttc9c |
A |
T |
19: 8,793,286 (GRCm39) |
F118Y |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,946,780 (GRCm39) |
C95Y |
probably damaging |
Het |
| Vars2 |
A |
C |
17: 35,970,028 (GRCm39) |
L787R |
probably damaging |
Het |
| Vwa3a |
T |
C |
7: 120,372,185 (GRCm39) |
S254P |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,340,627 (GRCm39) |
Y1250C |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,342,118 (GRCm39) |
D1453V |
probably damaging |
Het |
| Zbtb38 |
A |
T |
9: 96,568,029 (GRCm39) |
C1018* |
probably null |
Het |
| Zfp622 |
C |
T |
15: 25,984,709 (GRCm39) |
T25M |
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 |
|
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 |
|
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'- AGGGATGAAATCTCCTGTCTGTTC -3'
(R):5'- TGGCACACAGAAAGTACTCAGC -3'
Sequencing Primer
(F):5'- TAGTCATTCCAATGGACACTGC -3'
(R):5'- CAGAAAGTACTCAGCAAGTGC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation