Incidental Mutation 'R7350:Mtmr4'
ID |
570523 |
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 |
045436-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.237)
|
Stock # |
R7350 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
87482988-87507128 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87491476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 147
(H147L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099468
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000119628]
[ENSMUST00000123105]
[ENSMUST00000134216]
[ENSMUST00000146871]
|
AlphaFold |
Q91XS1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092802
AA Change: H147L
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000090478 Gene: ENSMUSG00000018401 AA Change: H147L
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: H147L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099468 Gene: ENSMUSG00000018401 AA Change: H147L
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: H147L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112902 Gene: ENSMUSG00000018401 AA Change: H147L
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: ENSMUST00000123105
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134216
AA Change: H161L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119660 Gene: ENSMUSG00000018401 AA Change: H161L
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
140 |
204 |
6.4e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146871
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas2 |
T |
C |
7: 132,476,578 (GRCm39) |
F106S |
probably damaging |
Het |
Acsf3 |
A |
G |
8: 123,512,685 (GRCm39) |
T369A |
probably benign |
Het |
Adgrf5 |
G |
A |
17: 43,739,335 (GRCm39) |
|
probably null |
Het |
Aff1 |
T |
A |
5: 103,994,958 (GRCm39) |
I1052K |
probably benign |
Het |
Akap8 |
T |
C |
17: 32,535,549 (GRCm39) |
D155G |
possibly damaging |
Het |
Alg10b |
A |
T |
15: 90,111,653 (GRCm39) |
M166L |
probably benign |
Het |
Allc |
T |
A |
12: 28,613,408 (GRCm39) |
Q178L |
possibly damaging |
Het |
Angptl4 |
C |
A |
17: 33,996,084 (GRCm39) |
L297F |
probably damaging |
Het |
Arfgap1 |
A |
G |
2: 180,612,869 (GRCm39) |
K8E |
possibly damaging |
Het |
Bckdhb |
T |
A |
9: 83,892,379 (GRCm39) |
V270E |
possibly damaging |
Het |
Cbx3 |
T |
C |
6: 51,452,355 (GRCm39) |
|
probably null |
Het |
Cd44 |
G |
T |
2: 102,664,607 (GRCm39) |
N531K |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,246,689 (GRCm39) |
D916E |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,837,594 (GRCm39) |
V792A |
probably benign |
Het |
Cstf3 |
T |
C |
2: 104,439,301 (GRCm39) |
L38P |
probably damaging |
Het |
Cyp2a5 |
A |
G |
7: 26,536,208 (GRCm39) |
E151G |
probably benign |
Het |
Dbr1 |
T |
C |
9: 99,464,602 (GRCm39) |
F127S |
|
Het |
Ddit4 |
A |
T |
10: 59,787,317 (GRCm39) |
D6E |
probably damaging |
Het |
Disc1 |
G |
C |
8: 125,891,841 (GRCm39) |
R631S |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,235,965 (GRCm39) |
|
probably null |
Het |
Dnah9 |
T |
C |
11: 65,971,404 (GRCm39) |
K1595E |
probably damaging |
Het |
Dnmbp |
T |
C |
19: 43,889,944 (GRCm39) |
R608G |
probably damaging |
Het |
Efcab5 |
G |
C |
11: 77,028,387 (GRCm39) |
P315A |
probably benign |
Het |
Eif4a2 |
A |
G |
16: 22,932,012 (GRCm39) |
Y392C |
possibly damaging |
Het |
F5 |
G |
T |
1: 164,020,277 (GRCm39) |
K917N |
probably benign |
Het |
Fig4 |
T |
C |
10: 41,127,752 (GRCm39) |
M571V |
probably benign |
Het |
Flot2 |
T |
A |
11: 77,948,802 (GRCm39) |
I259N |
probably damaging |
Het |
Gm8122 |
C |
A |
14: 43,088,058 (GRCm39) |
|
probably null |
Het |
Gpr152 |
T |
C |
19: 4,192,963 (GRCm39) |
V168A |
possibly damaging |
Het |
H1f0 |
G |
A |
15: 78,913,103 (GRCm39) |
G61D |
probably damaging |
Het |
Ihh |
T |
A |
1: 74,987,492 (GRCm39) |
K183M |
probably damaging |
Het |
Itga2 |
A |
G |
13: 114,973,738 (GRCm39) |
L1116P |
probably damaging |
Het |
Kcnj10 |
A |
G |
1: 172,196,827 (GRCm39) |
T114A |
possibly damaging |
Het |
Kcnk3 |
T |
G |
5: 30,779,310 (GRCm39) |
L120R |
probably damaging |
Het |
Krt14 |
C |
A |
11: 100,095,926 (GRCm39) |
E211* |
probably null |
Het |
Lars2 |
T |
C |
9: 123,256,545 (GRCm39) |
L350P |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,259,209 (GRCm39) |
I1408T |
probably damaging |
Het |
Lrrc27 |
A |
G |
7: 138,806,022 (GRCm39) |
E229G |
probably benign |
Het |
Lrrc8e |
G |
T |
8: 4,285,626 (GRCm39) |
R617L |
probably benign |
Het |
M1ap |
A |
G |
6: 82,958,930 (GRCm39) |
D187G |
probably benign |
Het |
Marchf1 |
A |
T |
8: 66,921,051 (GRCm39) |
K243* |
probably null |
Het |
Med16 |
C |
T |
10: 79,739,031 (GRCm39) |
V252M |
probably damaging |
Het |
Micu3 |
T |
C |
8: 40,801,999 (GRCm39) |
S189P |
probably benign |
Het |
Mier2 |
C |
A |
10: 79,376,132 (GRCm39) |
M264I |
unknown |
Het |
Mindy4 |
A |
T |
6: 55,278,010 (GRCm39) |
N618I |
probably damaging |
Het |
Mmrn1 |
C |
T |
6: 60,953,320 (GRCm39) |
Q534* |
probably null |
Het |
Mroh9 |
C |
T |
1: 162,903,858 (GRCm39) |
|
probably null |
Het |
Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
Mta3 |
T |
A |
17: 84,015,870 (GRCm39) |
I24N |
probably damaging |
Het |
Nfam1 |
T |
C |
15: 82,894,640 (GRCm39) |
K155R |
probably benign |
Het |
Nlrp6 |
A |
T |
7: 140,501,191 (GRCm39) |
|
probably benign |
Het |
Or1q1 |
T |
A |
2: 36,886,873 (GRCm39) |
I17N |
possibly damaging |
Het |
Or5d37 |
A |
T |
2: 87,923,542 (GRCm39) |
F246Y |
probably benign |
Het |
Or5w20 |
T |
C |
2: 87,726,753 (GRCm39) |
|
probably benign |
Het |
Or6d13 |
A |
G |
6: 116,517,495 (GRCm39) |
E27G |
probably benign |
Het |
Or9g4 |
A |
G |
2: 85,505,189 (GRCm39) |
F102S |
|
Het |
P4ha1 |
A |
G |
10: 59,186,240 (GRCm39) |
R240G |
probably damaging |
Het |
Pla2r1 |
G |
T |
2: 60,288,723 (GRCm39) |
D636E |
probably benign |
Het |
Polr2a |
A |
G |
11: 69,631,886 (GRCm39) |
L1060P |
possibly damaging |
Het |
Prr35 |
A |
T |
17: 26,165,685 (GRCm39) |
V534D |
probably damaging |
Het |
Ptgdr2 |
C |
A |
19: 10,918,319 (GRCm39) |
Q279K |
probably benign |
Het |
Rab11fip2 |
T |
A |
19: 59,925,853 (GRCm39) |
R121S |
probably benign |
Het |
Rasa2 |
T |
C |
9: 96,426,408 (GRCm39) |
S813G |
probably benign |
Het |
Rassf5 |
T |
C |
1: 131,106,273 (GRCm39) |
K411E |
possibly damaging |
Het |
Reep4 |
T |
C |
14: 70,783,987 (GRCm39) |
Y35H |
probably damaging |
Het |
Ror1 |
A |
T |
4: 100,283,140 (GRCm39) |
M402L |
probably benign |
Het |
Slc32a1 |
A |
G |
2: 158,456,326 (GRCm39) |
E327G |
probably damaging |
Het |
Spen |
C |
T |
4: 141,206,696 (GRCm39) |
E644K |
unknown |
Het |
Tars3 |
C |
G |
7: 65,308,672 (GRCm39) |
Q281E |
probably damaging |
Het |
Tcl1 |
A |
G |
12: 105,184,934 (GRCm39) |
I92T |
probably damaging |
Het |
Tifab |
A |
G |
13: 56,324,120 (GRCm39) |
S108P |
probably damaging |
Het |
Traf1 |
T |
C |
2: 34,838,245 (GRCm39) |
N198D |
probably benign |
Het |
Trim35 |
T |
C |
14: 66,546,654 (GRCm39) |
Y474H |
probably damaging |
Het |
Trim54 |
T |
A |
5: 31,294,505 (GRCm39) |
D344E |
probably benign |
Het |
Ttc28 |
A |
T |
5: 111,373,903 (GRCm39) |
H1113L |
probably damaging |
Het |
Vcam1 |
T |
A |
3: 115,908,211 (GRCm39) |
D617V |
probably damaging |
Het |
Vmn2r81 |
A |
T |
10: 79,104,219 (GRCm39) |
T281S |
probably benign |
Het |
Whrn |
C |
T |
4: 63,350,196 (GRCm39) |
R507K |
possibly damaging |
Het |
Zdhhc14 |
A |
G |
17: 5,777,151 (GRCm39) |
S303G |
probably benign |
Het |
Zfp292 |
A |
T |
4: 34,806,839 (GRCm39) |
N2073K |
probably benign |
Het |
Zgpat |
T |
A |
2: 181,022,228 (GRCm39) |
V163D |
|
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 |
|
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'- CATGGCCTGTCAATCCCTTG -3'
(R):5'- CGAGACTCTCCAGACATTCTGC -3'
Sequencing Primer
(F):5'- TGCCTCATCCAAGCCTGTGG -3'
(R):5'- GACTCTCCAGACATTCTGCAGGTC -3'
|
Posted On |
2019-09-13 |