Incidental Mutation 'R1828:Mtmr4'
| ID |
207030 |
| 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 |
039855-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R1828 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
87482988-87507128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87502943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 999
(V999A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000119628]
|
| AlphaFold |
Q91XS1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092802
AA Change: V942A
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: V942A
| 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: V999A
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: V999A
| 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: V999A
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: V999A
| 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: 97.4%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130008F23Rik |
T |
C |
17: 41,190,962 (GRCm39) |
T156A |
probably benign |
Het |
| 9230106D20Rik |
A |
T |
10: 19,536,065 (GRCm39) |
|
noncoding transcript |
Het |
| Abca3 |
A |
G |
17: 24,585,171 (GRCm39) |
D144G |
probably benign |
Het |
| Anxa2 |
T |
A |
9: 69,390,260 (GRCm39) |
L121Q |
probably damaging |
Het |
| Anxa7 |
A |
T |
14: 20,512,732 (GRCm39) |
I267N |
probably damaging |
Het |
| Asb14 |
A |
T |
14: 26,633,797 (GRCm39) |
D334V |
possibly damaging |
Het |
| Batf3 |
A |
G |
1: 190,830,714 (GRCm39) |
N20S |
probably benign |
Het |
| Bub1b |
A |
G |
2: 118,468,920 (GRCm39) |
H895R |
probably benign |
Het |
| C1qtnf12 |
G |
A |
4: 156,050,160 (GRCm39) |
|
probably null |
Het |
| Cars1 |
T |
C |
7: 143,130,385 (GRCm39) |
I294V |
probably damaging |
Het |
| Ccdc142 |
G |
A |
6: 83,084,462 (GRCm39) |
A527T |
probably damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,096,234 (GRCm39) |
N1621K |
possibly damaging |
Het |
| Ccdc92 |
T |
C |
5: 124,913,242 (GRCm39) |
N96D |
probably benign |
Het |
| Ceacam18 |
T |
A |
7: 43,288,880 (GRCm39) |
D210E |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,952,257 (GRCm39) |
T1373A |
probably damaging |
Het |
| Cfap161 |
T |
G |
7: 83,440,932 (GRCm39) |
|
probably null |
Het |
| Cimip4 |
T |
C |
15: 78,270,588 (GRCm39) |
Y60C |
possibly damaging |
Het |
| Cldn19 |
A |
G |
4: 119,112,990 (GRCm39) |
D74G |
probably benign |
Het |
| Clec12a |
A |
G |
6: 129,330,762 (GRCm39) |
T115A |
probably damaging |
Het |
| Cox7a2l |
T |
A |
17: 83,811,397 (GRCm39) |
Q78L |
probably benign |
Het |
| Crot |
T |
C |
5: 9,019,080 (GRCm39) |
N491S |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,505,342 (GRCm39) |
L2157Q |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,643,165 (GRCm39) |
|
probably null |
Het |
| Cyp4f14 |
T |
G |
17: 33,130,209 (GRCm39) |
D190A |
probably damaging |
Het |
| D630039A03Rik |
C |
T |
4: 57,910,240 (GRCm39) |
V191I |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,838,343 (GRCm39) |
N1124I |
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,177,861 (GRCm39) |
Y1548* |
probably null |
Het |
| Epdr1 |
G |
A |
13: 19,778,773 (GRCm39) |
Q6* |
probably null |
Het |
| Erbin |
A |
G |
13: 103,996,577 (GRCm39) |
|
probably null |
Het |
| Ero1a |
A |
T |
14: 45,525,217 (GRCm39) |
I436K |
probably damaging |
Het |
| Exph5 |
A |
T |
9: 53,287,941 (GRCm39) |
Q1674L |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,037,607 (GRCm39) |
Y3753F |
probably damaging |
Het |
| Gaa |
T |
C |
11: 119,174,098 (GRCm39) |
V763A |
probably damaging |
Het |
| Golim4 |
G |
A |
3: 75,809,745 (GRCm39) |
T216I |
probably damaging |
Het |
| Gpr83 |
G |
T |
9: 14,779,629 (GRCm39) |
C269F |
possibly damaging |
Het |
| Gtf2f2 |
A |
G |
14: 76,245,143 (GRCm39) |
|
probably null |
Het |
| Gtf3c5 |
T |
C |
2: 28,469,694 (GRCm39) |
Y70C |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,372,584 (GRCm39) |
R141S |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,965,182 (GRCm39) |
D548G |
probably benign |
Het |
| Hr |
G |
A |
14: 70,809,477 (GRCm39) |
|
probably null |
Het |
| Hrg |
A |
C |
16: 22,774,853 (GRCm39) |
E161A |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,237,526 (GRCm39) |
N1933I |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,229,830 (GRCm39) |
L1255P |
probably damaging |
Het |
| Kcnma1 |
C |
A |
14: 23,380,997 (GRCm39) |
D903Y |
probably damaging |
Het |
| Kif5c |
T |
C |
2: 49,570,252 (GRCm39) |
|
probably null |
Het |
| Mgat5b |
C |
A |
11: 116,868,614 (GRCm39) |
H512Q |
probably damaging |
Het |
| Mttp |
G |
T |
3: 137,813,041 (GRCm39) |
Q545K |
probably damaging |
Het |
| Ncstn |
CAGCTCCACGAAG |
CAG |
1: 171,899,038 (GRCm39) |
|
probably null |
Het |
| Nexn |
A |
G |
3: 151,948,405 (GRCm39) |
I386T |
probably damaging |
Het |
| Nrip3 |
A |
G |
7: 109,365,763 (GRCm39) |
S85P |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Olr1 |
T |
C |
6: 129,465,895 (GRCm39) |
N37S |
possibly damaging |
Het |
| Or14j5 |
C |
T |
17: 38,161,966 (GRCm39) |
A161V |
probably benign |
Het |
| Or4b1d |
A |
G |
2: 89,968,931 (GRCm39) |
L184S |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,648,402 (GRCm39) |
I296F |
probably benign |
Het |
| Or55b3 |
A |
G |
7: 102,126,720 (GRCm39) |
L119P |
probably damaging |
Het |
| Or5p80 |
G |
T |
7: 108,229,855 (GRCm39) |
V219F |
possibly damaging |
Het |
| Pax4 |
T |
C |
6: 28,443,446 (GRCm39) |
Y290C |
probably benign |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,038 (GRCm39) |
V337D |
probably damaging |
Het |
| Pglyrp4 |
T |
C |
3: 90,640,310 (GRCm39) |
Y187H |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,098,614 (GRCm39) |
M2017T |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,703,483 (GRCm39) |
T818A |
possibly damaging |
Het |
| Pxk |
C |
T |
14: 8,151,507 (GRCm38) |
R441* |
probably null |
Het |
| Pygm |
T |
C |
19: 6,447,637 (GRCm39) |
I648T |
possibly damaging |
Het |
| Rab4a |
A |
T |
8: 124,550,565 (GRCm39) |
K15I |
probably damaging |
Het |
| Rasa3 |
T |
C |
8: 13,635,035 (GRCm39) |
E428G |
probably benign |
Het |
| Rnf182 |
G |
A |
13: 43,822,010 (GRCm39) |
W187* |
probably null |
Het |
| Rpl3 |
C |
T |
15: 79,964,591 (GRCm39) |
V222M |
possibly damaging |
Het |
| Rtl9 |
C |
T |
X: 141,886,011 (GRCm39) |
S1141F |
possibly damaging |
Het |
| S100a11 |
A |
T |
3: 93,433,428 (GRCm39) |
I91F |
probably benign |
Het |
| Sfswap |
C |
T |
5: 129,590,148 (GRCm39) |
T215I |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,461,372 (GRCm39) |
D1456G |
probably damaging |
Het |
| Tex19.2 |
C |
T |
11: 121,008,317 (GRCm39) |
V44I |
probably benign |
Het |
| Tmem127 |
G |
A |
2: 127,098,094 (GRCm39) |
|
probably null |
Het |
| Tpd52 |
G |
T |
3: 9,012,579 (GRCm39) |
N59K |
probably damaging |
Het |
| Trpc3 |
G |
A |
3: 36,692,695 (GRCm39) |
P766S |
possibly damaging |
Het |
| Usp17la |
T |
A |
7: 104,510,331 (GRCm39) |
V312D |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,345,582 (GRCm39) |
N2608D |
possibly damaging |
Het |
| Zfp764l1 |
T |
A |
7: 126,991,081 (GRCm39) |
H302L |
probably damaging |
Het |
| Zscan25 |
C |
A |
5: 145,227,858 (GRCm39) |
H507Q |
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 |
|
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 |
|
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'- AGCATATTCGAGCTGCAGGG -3'
(R):5'- GGCGTTGGTGAATACTTACAAAGTC -3'
Sequencing Primer
(F):5'- CGAGCTGCAGGGCCCTG -3'
(R):5'- AAGTCATCCTCATAGTCCATGGG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation