Incidental Mutation 'R6077:Mtmr4'
| ID |
482804 |
| 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 |
044238-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
R6077 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
87482988-87507128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87501845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 633
(L633Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000119628]
|
| AlphaFold |
Q91XS1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092802
AA Change: L576Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: L576Q
| 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: L633Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: L633Q
| 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: L633Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: L633Q
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
C |
T |
11: 100,410,583 (GRCm39) |
V132I |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,133,081 (GRCm39) |
L1335* |
probably null |
Het |
| Adgre5 |
A |
G |
8: 84,454,595 (GRCm39) |
S301P |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,802,525 (GRCm39) |
Y21C |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,868,071 (GRCm39) |
S112R |
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,382,058 (GRCm39) |
|
probably null |
Het |
| Atp4a |
G |
A |
7: 30,415,344 (GRCm39) |
M321I |
probably benign |
Het |
| C2cd4d |
A |
T |
3: 94,271,615 (GRCm39) |
R294W |
probably damaging |
Het |
| Carns1 |
T |
C |
19: 4,220,875 (GRCm39) |
I352V |
probably benign |
Het |
| Cdh17 |
T |
A |
4: 11,803,969 (GRCm39) |
S547R |
probably benign |
Het |
| Cdyl2 |
G |
T |
8: 117,316,129 (GRCm39) |
N286K |
probably damaging |
Het |
| Fam186a |
C |
A |
15: 99,840,584 (GRCm39) |
V1887L |
possibly damaging |
Het |
| Fat4 |
C |
T |
3: 39,056,951 (GRCm39) |
R4216C |
probably damaging |
Het |
| Fcamr |
T |
C |
1: 130,740,663 (GRCm39) |
W361R |
probably damaging |
Het |
| Helz2 |
G |
A |
2: 180,874,831 (GRCm39) |
P1888S |
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,651,833 (GRCm39) |
F840L |
possibly damaging |
Het |
| Kansl2 |
T |
C |
15: 98,429,312 (GRCm39) |
D146G |
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,223,746 (GRCm39) |
V297A |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,982,618 (GRCm39) |
T720A |
possibly damaging |
Het |
| Kl |
C |
G |
5: 150,876,466 (GRCm39) |
F95L |
probably damaging |
Het |
| Large2 |
C |
T |
2: 92,196,915 (GRCm39) |
R423K |
probably benign |
Het |
| Lgals3bp |
A |
G |
11: 118,290,568 (GRCm39) |
V13A |
probably damaging |
Het |
| Lrrd1 |
A |
G |
5: 3,900,837 (GRCm39) |
I381V |
probably benign |
Het |
| Mastl |
A |
T |
2: 23,045,806 (GRCm39) |
I23N |
probably damaging |
Het |
| Mettl23 |
T |
C |
11: 116,739,728 (GRCm39) |
V1A |
possibly damaging |
Het |
| Mindy2 |
A |
G |
9: 70,538,363 (GRCm39) |
V324A |
probably damaging |
Het |
| Myh1 |
G |
A |
11: 67,102,273 (GRCm39) |
E855K |
probably damaging |
Het |
| Nin |
C |
T |
12: 70,066,006 (GRCm39) |
A2026T |
probably damaging |
Het |
| Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
| Or2w1 |
A |
T |
13: 21,317,463 (GRCm39) |
I173F |
probably benign |
Het |
| Otulin |
T |
C |
15: 27,611,696 (GRCm39) |
T166A |
probably benign |
Het |
| P2ry14 |
T |
A |
3: 59,022,798 (GRCm39) |
R230W |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,162,073 (GRCm39) |
E83G |
probably damaging |
Het |
| Raet1e |
C |
A |
10: 22,057,887 (GRCm39) |
T218N |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGTCGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
| Safb |
G |
A |
17: 56,909,956 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,527,940 (GRCm39) |
N850I |
probably damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,208,381 (GRCm39) |
D297G |
possibly damaging |
Het |
| Tcf7l2 |
A |
T |
19: 55,905,868 (GRCm39) |
K278* |
probably null |
Het |
| Tesmin |
T |
C |
19: 3,439,260 (GRCm39) |
V104A |
possibly damaging |
Het |
| Tiam1 |
A |
G |
16: 89,594,918 (GRCm39) |
|
probably null |
Het |
| Tmc4 |
T |
C |
7: 3,670,526 (GRCm39) |
T522A |
probably damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,408,141 (GRCm39) |
I274F |
possibly damaging |
Het |
| Topbp1 |
A |
G |
9: 103,210,189 (GRCm39) |
K916E |
probably damaging |
Het |
| Trdv1 |
A |
G |
14: 54,119,513 (GRCm39) |
D58G |
probably benign |
Het |
| Ube2g2 |
G |
T |
10: 77,458,139 (GRCm39) |
|
probably benign |
Het |
| Unc5d |
G |
T |
8: 29,165,335 (GRCm39) |
Q747K |
possibly damaging |
Het |
| Xpo6 |
A |
G |
7: 125,709,124 (GRCm39) |
V819A |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,412,559 (GRCm39) |
|
probably benign |
Het |
| Zfp317 |
T |
A |
9: 19,558,184 (GRCm39) |
W133R |
probably benign |
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 |
|
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'- TCCCGGTGAACTTCAGTTATTTG -3'
(R):5'- TGACCCTTGAAAGGTTTATTGCTC -3'
Sequencing Primer
(F):5'- TCAACATCAATTTTGATACTGCTTTG -3'
(R):5'- CAAGTACTCTTTCTGGCTACTGGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation