Incidental Mutation 'R7141:Mtmr4'
| ID |
553353 |
| 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 |
045221-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R7141 (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 C
at 87491439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 135
(W135R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000119628]
[ENSMUST00000123105]
[ENSMUST00000134216]
[ENSMUST00000146871]
|
| AlphaFold |
Q91XS1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092802
AA Change: W135R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: W135R
| 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: W135R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: W135R
| 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: W135R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: W135R
| 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: W149R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119660
Gene: ENSMUSG00000018401
AA Change: W149R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
140 |
204 |
6.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146871
|
| Meta Mutation Damage Score |
0.6521 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
C |
1: 74,323,270 (GRCm39) |
|
probably null |
Het |
| Abhd10 |
C |
T |
16: 45,563,169 (GRCm39) |
R29Q |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,640,620 (GRCm39) |
Y3369H |
probably benign |
Het |
| Agl |
A |
G |
3: 116,546,935 (GRCm39) |
I1305T |
probably benign |
Het |
| Apba3 |
A |
G |
10: 81,108,889 (GRCm39) |
I551V |
probably damaging |
Het |
| Appbp2 |
A |
T |
11: 85,082,577 (GRCm39) |
Y551* |
probably null |
Het |
| Btbd17 |
T |
C |
11: 114,682,641 (GRCm39) |
N357S |
possibly damaging |
Het |
| Casp2 |
T |
C |
6: 42,257,329 (GRCm39) |
F426S |
possibly damaging |
Het |
| Cdh5 |
A |
G |
8: 104,839,633 (GRCm39) |
N35D |
probably benign |
Het |
| Cep350 |
G |
T |
1: 155,790,494 (GRCm39) |
Q1354K |
probably damaging |
Het |
| Cep44 |
A |
G |
8: 56,992,886 (GRCm39) |
C243R |
probably damaging |
Het |
| Chst4 |
A |
T |
8: 110,757,471 (GRCm39) |
S131T |
probably damaging |
Het |
| Cox15 |
T |
C |
19: 43,725,186 (GRCm39) |
N406D |
probably benign |
Het |
| Cttnbp2 |
C |
T |
6: 18,380,467 (GRCm39) |
R1467H |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,158,984 (GRCm39) |
D1714G |
probably null |
Het |
| Erbb2 |
G |
T |
11: 98,318,135 (GRCm39) |
R457L |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,203,493 (GRCm39) |
N463S |
probably benign |
Het |
| Fam171a1 |
C |
T |
2: 3,226,189 (GRCm39) |
Q441* |
probably null |
Het |
| Fam186b |
T |
A |
15: 99,181,773 (GRCm39) |
M142L |
probably benign |
Het |
| Git2 |
G |
T |
5: 114,907,759 (GRCm39) |
C35* |
probably null |
Het |
| Gm21103 |
T |
G |
14: 17,482,795 (GRCm39) |
Q202P |
probably damaging |
Het |
| Gm5622 |
G |
T |
14: 51,893,339 (GRCm39) |
E89* |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,250,908 (GRCm39) |
T790K |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,279,427 (GRCm39) |
L3114H |
probably damaging |
Het |
| Igkv3-10 |
A |
T |
6: 70,549,965 (GRCm39) |
Q37L |
possibly damaging |
Het |
| Kcp |
G |
T |
6: 29,487,511 (GRCm39) |
Y1106* |
probably null |
Het |
| Khsrp |
T |
C |
17: 57,332,602 (GRCm39) |
D226G |
possibly damaging |
Het |
| Klre1 |
T |
A |
6: 129,560,129 (GRCm39) |
W134R |
probably damaging |
Het |
| Lrrc66 |
A |
G |
5: 73,787,320 (GRCm39) |
I10T |
probably benign |
Het |
| Map4 |
T |
C |
9: 109,807,938 (GRCm39) |
M1T |
probably null |
Het |
| Met |
T |
A |
6: 17,527,154 (GRCm39) |
I535K |
probably benign |
Het |
| Mmut |
T |
C |
17: 41,263,730 (GRCm39) |
V500A |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,435 (GRCm39) |
V159A |
possibly damaging |
Het |
| Mrpl41 |
A |
G |
2: 24,864,468 (GRCm39) |
L68P |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,692,965 (GRCm39) |
D1420G |
probably benign |
Het |
| Naglu |
A |
C |
11: 100,963,056 (GRCm39) |
D229A |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Ncln |
G |
T |
10: 81,323,683 (GRCm39) |
Y517* |
probably null |
Het |
| Nr1h4 |
G |
A |
10: 89,334,091 (GRCm39) |
R100* |
probably null |
Het |
| Or5k1 |
G |
A |
16: 58,617,771 (GRCm39) |
T146M |
probably benign |
Het |
| P2rx5 |
A |
T |
11: 73,051,474 (GRCm39) |
T18S |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,729,271 (GRCm39) |
S2710P |
unknown |
Het |
| Pdhx |
A |
T |
2: 102,903,659 (GRCm39) |
F46I |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,278,181 (GRCm39) |
L241* |
probably null |
Het |
| Pitpnm1 |
G |
A |
19: 4,152,787 (GRCm39) |
V65M |
probably damaging |
Het |
| Rgs3 |
A |
G |
4: 62,608,724 (GRCm39) |
D330G |
probably damaging |
Het |
| Scaf8 |
T |
C |
17: 3,209,457 (GRCm39) |
V60A |
unknown |
Het |
| Sema4c |
A |
G |
1: 36,592,101 (GRCm39) |
Y249H |
probably damaging |
Het |
| Spp2 |
T |
C |
1: 88,335,050 (GRCm39) |
Y27H |
probably damaging |
Het |
| Sugct |
T |
A |
13: 17,819,372 (GRCm39) |
I158F |
possibly damaging |
Het |
| Sympk |
A |
T |
7: 18,788,017 (GRCm39) |
I1178F |
probably benign |
Het |
| Tmppe |
T |
C |
9: 114,234,036 (GRCm39) |
Y112H |
probably benign |
Het |
| Trp53bp2 |
A |
G |
1: 182,276,073 (GRCm39) |
T187A |
|
Het |
| Tspoap1 |
A |
G |
11: 87,665,523 (GRCm39) |
S754G |
probably damaging |
Het |
| Vmn1r214 |
C |
T |
13: 23,218,839 (GRCm39) |
A111V |
probably benign |
Het |
| Vmn2r70 |
G |
C |
7: 85,208,044 (GRCm39) |
S811C |
probably benign |
Het |
| Zfp638 |
T |
C |
6: 83,844,181 (GRCm39) |
S15P |
unknown |
Het |
| Zfp763 |
A |
G |
17: 33,237,769 (GRCm39) |
S459P |
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 |
|
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'- AGGTGTTGATGTCTCCTCCC -3'
(R):5'- TGTCGACATCGGATGTGCTC -3'
Sequencing Primer
(F):5'- GTGTTGTTTACTCTTGACCCCATGG -3'
(R):5'- GATGTGCTCTCCTGCAACACAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation