Incidental Mutation 'R8544:Mtmr4'
| ID |
659546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr4
|
| Ensembl Gene |
ENSMUSG00000018401 |
| Gene Name |
myotubularin related protein 4 |
| Synonyms |
ZFYVE11, FYVE zinc finger phosphatase, ESTM44, FYVE-DSP2 |
| MMRRC Submission |
068509-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R8544 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87592162-87616302 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87611909 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 930
(R930G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000119628]
|
| AlphaFold |
Q91XS1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092802
AA Change: R873G
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: R873G
| 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 |
possibly damaging
Transcript: ENSMUST00000103179
AA Change: R930G
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: R930G
| 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 |
possibly damaging
Transcript: ENSMUST00000119628
AA Change: R930G
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: R930G
| 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 |
|
| Meta Mutation Damage Score |
0.0784 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
C |
A |
15: 37,425,735 (GRCm38) |
|
probably benign |
Het |
| A430105I19Rik |
C |
T |
2: 118,757,221 (GRCm38) |
R544K |
unknown |
Het |
| Abcb5 |
A |
T |
12: 118,868,726 (GRCm38) |
L1171H |
probably damaging |
Het |
| Ace |
A |
T |
11: 105,971,290 (GRCm38) |
|
probably null |
Het |
| Adsl |
G |
T |
15: 80,948,533 (GRCm38) |
|
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,750,056 (GRCm38) |
M215T |
probably benign |
Het |
| Cabp2 |
A |
T |
19: 4,084,892 (GRCm38) |
R77S |
probably damaging |
Het |
| Cast |
A |
T |
13: 74,734,058 (GRCm38) |
H40Q |
possibly damaging |
Het |
| Ccar1 |
A |
T |
10: 62,750,579 (GRCm38) |
Y946N |
unknown |
Het |
| Chst14 |
A |
G |
2: 118,927,529 (GRCm38) |
Y268C |
probably damaging |
Het |
| Dennd1a |
T |
C |
2: 37,982,908 (GRCm38) |
|
probably null |
Het |
| Dnah1 |
A |
G |
14: 31,268,904 (GRCm38) |
Y3153H |
probably damaging |
Het |
| Entpd8 |
T |
C |
2: 25,083,844 (GRCm38) |
V271A |
probably benign |
Het |
| Eppk1 |
C |
T |
15: 76,110,119 (GRCm38) |
R854Q |
probably benign |
Het |
| Fam126b |
T |
C |
1: 58,529,822 (GRCm38) |
T477A |
probably benign |
Het |
| Fam234b |
A |
G |
6: 135,233,289 (GRCm38) |
Y561C |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,288,141 (GRCm38) |
|
probably benign |
Het |
| Galnt5 |
T |
A |
2: 58,017,148 (GRCm38) |
M541K |
probably damaging |
Het |
| Gjd3 |
C |
A |
11: 98,982,662 (GRCm38) |
E119* |
probably null |
Het |
| Gm266 |
T |
C |
12: 111,485,365 (GRCm38) |
T136A |
possibly damaging |
Het |
| Gng11 |
G |
A |
6: 4,008,045 (GRCm38) |
C36Y |
possibly damaging |
Het |
| Gse1 |
G |
A |
8: 120,553,652 (GRCm38) |
V36I |
probably damaging |
Het |
| Invs |
A |
T |
4: 48,397,598 (GRCm38) |
H335L |
probably damaging |
Het |
| Kcnc2 |
A |
T |
10: 112,456,196 (GRCm38) |
I28F |
probably damaging |
Het |
| Klhl40 |
C |
T |
9: 121,778,826 (GRCm38) |
H351Y |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,742,227 (GRCm38) |
L382P |
probably benign |
Het |
| Lenep |
A |
T |
3: 89,402,477 (GRCm38) |
C55S |
possibly damaging |
Het |
| Lrp12 |
A |
T |
15: 39,878,574 (GRCm38) |
Y248* |
probably null |
Het |
| Man2c1 |
A |
G |
9: 57,131,041 (GRCm38) |
|
probably null |
Het |
| Map2k2 |
T |
C |
10: 81,119,542 (GRCm38) |
M32T |
possibly damaging |
Het |
| Mnt |
A |
G |
11: 74,831,392 (GRCm38) |
R22G |
probably damaging |
Het |
| Mroh1 |
G |
T |
15: 76,443,358 (GRCm38) |
E1127* |
probably null |
Het |
| Nalcn |
A |
G |
14: 123,371,523 (GRCm38) |
V644A |
probably benign |
Het |
| Ngf |
G |
T |
3: 102,520,675 (GRCm38) |
V247F |
probably damaging |
Het |
| Ninj2 |
A |
G |
6: 120,198,057 (GRCm38) |
Y63C |
probably damaging |
Het |
| Olfr1226 |
T |
C |
2: 89,193,968 (GRCm38) |
E22G |
possibly damaging |
Het |
| Olfr577 |
A |
T |
7: 102,973,731 (GRCm38) |
I87N |
probably damaging |
Het |
| Phf12 |
A |
C |
11: 78,027,409 (GRCm38) |
I816L |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,522,975 (GRCm38) |
G1638V |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,524,459 (GRCm38) |
S67R |
probably benign |
Het |
| Plekhf1 |
A |
G |
7: 38,221,344 (GRCm38) |
F267L |
probably damaging |
Het |
| Poc1b |
A |
T |
10: 99,124,908 (GRCm38) |
K60* |
probably null |
Het |
| Ppic |
G |
A |
18: 53,411,540 (GRCm38) |
T66M |
probably damaging |
Het |
| Prep |
G |
T |
10: 45,153,127 (GRCm38) |
G541V |
probably damaging |
Het |
| Rasal3 |
C |
T |
17: 32,392,119 (GRCm38) |
V947I |
probably benign |
Het |
| Rbl1 |
T |
C |
2: 157,193,204 (GRCm38) |
R319G |
probably damaging |
Het |
| Rbm34 |
A |
G |
8: 126,970,071 (GRCm38) |
S94P |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,597,345 (GRCm38) |
E403* |
probably null |
Het |
| Sacm1l |
T |
C |
9: 123,577,058 (GRCm38) |
|
probably null |
Het |
| Scaf8 |
T |
C |
17: 3,163,020 (GRCm38) |
|
probably benign |
Het |
| Scrn1 |
T |
A |
6: 54,522,856 (GRCm38) |
T215S |
probably benign |
Het |
| Sfrp4 |
A |
G |
13: 19,632,166 (GRCm38) |
|
probably null |
Het |
| Slc37a3 |
T |
C |
6: 39,344,363 (GRCm38) |
I406V |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,376,800 (GRCm38) |
R180G |
probably benign |
Het |
| Sptbn1 |
C |
A |
11: 30,219,750 (GRCm38) |
|
probably benign |
Het |
| St8sia5 |
T |
C |
18: 77,254,418 (GRCm38) |
Y275H |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 31,163,051 (GRCm38) |
C137* |
probably null |
Het |
| Svep1 |
A |
G |
4: 58,206,025 (GRCm38) |
S118P |
probably benign |
Het |
| Tbx6 |
A |
G |
7: 126,781,484 (GRCm38) |
|
probably null |
Het |
| Tril |
C |
T |
6: 53,819,310 (GRCm38) |
S309N |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,592,445 (GRCm38) |
|
probably null |
Het |
| Trpm1 |
T |
A |
7: 64,224,608 (GRCm38) |
|
probably null |
Het |
| Tyr |
T |
C |
7: 87,492,792 (GRCm38) |
T110A |
probably benign |
Het |
| Upf1 |
A |
C |
8: 70,337,052 (GRCm38) |
F711C |
probably damaging |
Het |
| Usp5 |
A |
T |
6: 124,823,517 (GRCm38) |
V267D |
probably damaging |
Het |
| Virma |
C |
A |
4: 11,516,949 (GRCm38) |
D714E |
probably benign |
Het |
| Vmn2r115 |
A |
C |
17: 23,345,799 (GRCm38) |
Q220P |
possibly damaging |
Het |
| Vmn2r40 |
T |
C |
7: 8,908,192 (GRCm38) |
I701V |
|
Het |
| Vwde |
T |
A |
6: 13,187,653 (GRCm38) |
M612L |
probably benign |
Het |
| Wwox |
A |
G |
8: 114,488,906 (GRCm38) |
T140A |
probably benign |
Het |
| Zbtb17 |
CCCCCACCTCCACAGACCCCA |
CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA |
4: 141,466,828 (GRCm38) |
|
probably benign |
Het |
| Zbtb9 |
T |
A |
17: 26,974,474 (GRCm38) |
C284* |
probably null |
Het |
| Zdhhc12 |
C |
A |
2: 30,093,474 (GRCm38) |
A39S |
probably benign |
Het |
| Zfp532 |
T |
A |
18: 65,625,156 (GRCm38) |
I720K |
possibly damaging |
Het |
| Zfp595 |
G |
A |
13: 67,317,180 (GRCm38) |
R340C |
probably damaging |
Het |
|
| Other mutations in Mtmr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Mtmr4
|
APN |
11 |
87,611,924 (GRCm38) |
missense |
probably benign |
0.29 |
|
IGL01134:Mtmr4
|
APN |
11 |
87,604,067 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01317:Mtmr4
|
APN |
11 |
87,602,404 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01544:Mtmr4
|
APN |
11 |
87,597,611 (GRCm38) |
splice site |
probably benign |
|
|
IGL01574:Mtmr4
|
APN |
11 |
87,600,647 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01807:Mtmr4
|
APN |
11 |
87,604,150 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
IGL02059:Mtmr4
|
APN |
11 |
87,601,124 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL03049:Mtmr4
|
APN |
11 |
87,614,234 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03196:Mtmr4
|
APN |
11 |
87,600,783 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL03214:Mtmr4
|
APN |
11 |
87,597,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03258:Mtmr4
|
APN |
11 |
87,612,003 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
Hippie
|
UTSW |
11 |
87,613,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
incharge
|
UTSW |
11 |
87,611,042 (GRCm38) |
nonsense |
probably null |
|
|
PIT4802001:Mtmr4
|
UTSW |
11 |
87,611,127 (GRCm38) |
missense |
probably benign |
|
|
R0009:Mtmr4
|
UTSW |
11 |
87,611,508 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0564:Mtmr4
|
UTSW |
11 |
87,598,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0637:Mtmr4
|
UTSW |
11 |
87,611,064 (GRCm38) |
missense |
probably benign |
0.30 |
|
R0780:Mtmr4
|
UTSW |
11 |
87,611,440 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1490:Mtmr4
|
UTSW |
11 |
87,612,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1550:Mtmr4
|
UTSW |
11 |
87,613,516 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1777:Mtmr4
|
UTSW |
11 |
87,602,830 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1828:Mtmr4
|
UTSW |
11 |
87,612,117 (GRCm38) |
missense |
probably benign |
0.26 |
|
R2040:Mtmr4
|
UTSW |
11 |
87,605,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2088:Mtmr4
|
UTSW |
11 |
87,610,967 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2497:Mtmr4
|
UTSW |
11 |
87,600,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2993:Mtmr4
|
UTSW |
11 |
87,604,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3857:Mtmr4
|
UTSW |
11 |
87,597,262 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3858:Mtmr4
|
UTSW |
11 |
87,597,262 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4614:Mtmr4
|
UTSW |
11 |
87,610,935 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4615:Mtmr4
|
UTSW |
11 |
87,610,935 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4616:Mtmr4
|
UTSW |
11 |
87,610,935 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4816:Mtmr4
|
UTSW |
11 |
87,604,097 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5454:Mtmr4
|
UTSW |
11 |
87,611,042 (GRCm38) |
nonsense |
probably null |
|
|
R5502:Mtmr4
|
UTSW |
11 |
87,614,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5566:Mtmr4
|
UTSW |
11 |
87,604,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5833:Mtmr4
|
UTSW |
11 |
87,605,049 (GRCm38) |
nonsense |
probably null |
|
|
R5907:Mtmr4
|
UTSW |
11 |
87,612,050 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5980:Mtmr4
|
UTSW |
11 |
87,604,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6077:Mtmr4
|
UTSW |
11 |
87,611,019 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6434:Mtmr4
|
UTSW |
11 |
87,613,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6521:Mtmr4
|
UTSW |
11 |
87,613,527 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7141:Mtmr4
|
UTSW |
11 |
87,600,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7182:Mtmr4
|
UTSW |
11 |
87,604,605 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7290:Mtmr4
|
UTSW |
11 |
87,611,237 (GRCm38) |
missense |
probably benign |
|
|
R7350:Mtmr4
|
UTSW |
11 |
87,600,650 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7392:Mtmr4
|
UTSW |
11 |
87,604,557 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7447:Mtmr4
|
UTSW |
11 |
87,611,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7530:Mtmr4
|
UTSW |
11 |
87,611,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7660:Mtmr4
|
UTSW |
11 |
87,604,580 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7713:Mtmr4
|
UTSW |
11 |
87,597,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7823:Mtmr4
|
UTSW |
11 |
87,612,189 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7944:Mtmr4
|
UTSW |
11 |
87,604,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7945:Mtmr4
|
UTSW |
11 |
87,604,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8010:Mtmr4
|
UTSW |
11 |
87,598,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8116:Mtmr4
|
UTSW |
11 |
87,611,930 (GRCm38) |
nonsense |
probably null |
|
|
R8559:Mtmr4
|
UTSW |
11 |
87,604,124 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8971:Mtmr4
|
UTSW |
11 |
87,602,800 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9562:Mtmr4
|
UTSW |
11 |
87,602,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9673:Mtmr4
|
UTSW |
11 |
87,614,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9673:Mtmr4
|
UTSW |
11 |
87,612,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9797:Mtmr4
|
UTSW |
11 |
87,604,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0062:Mtmr4
|
UTSW |
11 |
87,611,825 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Mtmr4
|
UTSW |
11 |
87,611,880 (GRCm38) |
missense |
probably benign |
0.41 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCCGGATCTGATCTACAAG -3'
(R):5'- GACTTGCTTCGGATGACTGG -3'
Sequencing Primer
(F):5'- AGCTGTTGGAAAATCCTCGC -3'
(R):5'- CTTGCTTCGGATGACTGGAAAACC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation