Incidental Mutation 'R5980:Mtmr4'
| ID |
481392 |
| 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 |
044162-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R5980 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87592162-87616302 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87604151 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 423
(I423T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000119628]
[ENSMUST00000134216]
|
| AlphaFold |
Q91XS1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092802
AA Change: I423T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: I423T
| 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: I423T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: I423T
| 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: I423T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: I423T
| 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: ENSMUST00000134216
|
| SMART Domains |
Protein: ENSMUSP00000119660
Gene: ENSMUSG00000018401
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
140 |
204 |
6.4e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.8275 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,567,055 (GRCm38) |
N508D |
possibly damaging |
Het |
| Ago1 |
C |
T |
4: 126,460,569 (GRCm38) |
|
probably benign |
Het |
| Apol6 |
A |
T |
15: 77,051,019 (GRCm38) |
T163S |
possibly damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,356,269 (GRCm38) |
T33A |
probably benign |
Het |
| Atg7 |
C |
A |
6: 114,680,236 (GRCm38) |
F132L |
possibly damaging |
Het |
| Cep104 |
C |
A |
4: 153,988,473 (GRCm38) |
A396E |
probably benign |
Het |
| Cers4 |
T |
A |
8: 4,518,269 (GRCm38) |
C107* |
probably null |
Het |
| Cntn6 |
T |
C |
6: 104,848,132 (GRCm38) |
S878P |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,181,722 (GRCm38) |
K633E |
probably benign |
Het |
| Dst |
T |
A |
1: 34,182,891 (GRCm38) |
I2592K |
probably benign |
Het |
| Ep400 |
G |
A |
5: 110,733,729 (GRCm38) |
|
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,315,404 (GRCm38) |
C2320R |
probably damaging |
Het |
| Gm17677 |
A |
C |
9: 35,741,615 (GRCm38) |
D51A |
probably damaging |
Het |
| Gpi1 |
A |
G |
7: 34,228,926 (GRCm38) |
|
probably null |
Het |
| Gse1 |
T |
G |
8: 120,229,637 (GRCm38) |
|
probably benign |
Het |
| Hid1 |
G |
A |
11: 115,350,948 (GRCm38) |
T612I |
possibly damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,265,295 (GRCm38) |
H708Q |
probably benign |
Het |
| Igkv10-95 |
T |
C |
6: 68,680,589 (GRCm38) |
S10P |
probably damaging |
Het |
| Igkv14-100 |
T |
C |
6: 68,519,025 (GRCm38) |
V5A |
probably benign |
Het |
| Irgq |
G |
A |
7: 24,533,345 (GRCm38) |
G204S |
probably damaging |
Het |
| Kansl1 |
T |
C |
11: 104,343,637 (GRCm38) |
K681R |
possibly damaging |
Het |
| Kcnv1 |
C |
A |
15: 45,109,414 (GRCm38) |
V358L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,535,005 (GRCm38) |
S275T |
probably damaging |
Het |
| Lysmd1 |
A |
T |
3: 95,137,908 (GRCm38) |
D155V |
probably damaging |
Het |
| Magel2 |
A |
T |
7: 62,380,596 (GRCm38) |
I1083F |
unknown |
Het |
| Mta3 |
T |
A |
17: 83,708,405 (GRCm38) |
V12D |
probably damaging |
Het |
| Mup11 |
A |
G |
4: 60,660,888 (GRCm38) |
Y16H |
possibly damaging |
Het |
| Mycbp |
G |
A |
4: 123,911,096 (GRCm38) |
V91I |
probably benign |
Het |
| Ngly1 |
A |
C |
14: 16,270,509 (GRCm38) |
Q72P |
possibly damaging |
Het |
| Nol4 |
T |
A |
18: 22,952,201 (GRCm38) |
Q52L |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,571,633 (GRCm38) |
V808A |
probably damaging |
Het |
| Olfr1058 |
A |
T |
2: 86,385,797 (GRCm38) |
L207* |
probably null |
Het |
| Olfr9 |
A |
G |
10: 128,990,440 (GRCm38) |
H176R |
probably damaging |
Het |
| Olfr993 |
A |
T |
2: 85,414,165 (GRCm38) |
F238Y |
probably damaging |
Het |
| Pik3c2b |
C |
A |
1: 133,088,308 (GRCm38) |
D869E |
probably benign |
Het |
| Pom121l2 |
T |
C |
13: 21,983,376 (GRCm38) |
S606P |
probably damaging |
Het |
| Prdm15 |
G |
A |
16: 97,812,570 (GRCm38) |
R517* |
probably null |
Het |
| Ralgapa1 |
T |
A |
12: 55,770,616 (GRCm38) |
|
probably null |
Het |
| Saraf |
T |
A |
8: 34,165,387 (GRCm38) |
F207I |
probably benign |
Het |
| Sema6d |
A |
G |
2: 124,664,708 (GRCm38) |
D874G |
probably damaging |
Het |
| Sfrp5 |
A |
T |
19: 42,201,972 (GRCm38) |
L14M |
unknown |
Het |
| Sidt1 |
A |
T |
16: 44,263,312 (GRCm38) |
C485* |
probably null |
Het |
| Sptbn4 |
A |
G |
7: 27,372,171 (GRCm38) |
Y1618H |
probably damaging |
Het |
| Syt14 |
T |
C |
1: 192,980,408 (GRCm38) |
Q127R |
possibly damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm38) |
G252R |
probably benign |
Het |
| Ticrr |
G |
A |
7: 79,660,955 (GRCm38) |
A206T |
probably damaging |
Het |
| Tmem132d |
T |
A |
5: 127,784,598 (GRCm38) |
I820F |
probably benign |
Het |
| Trafd1 |
A |
G |
5: 121,373,457 (GRCm38) |
Y433H |
probably damaging |
Het |
| Trim68 |
A |
G |
7: 102,678,831 (GRCm38) |
V305A |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,865,056 (GRCm38) |
Y163F |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,478,792 (GRCm38) |
H291Q |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,441,362 (GRCm38) |
I457V |
probably benign |
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 |
|
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 |
|
|
R8544:Mtmr4
|
UTSW |
11 |
87,611,909 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
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'- CATGTGGTAGCCCTAGAACC -3'
(R):5'- TGGCAGCTGTAAACACGTTAAG -3'
Sequencing Primer
(F):5'- ATGTGGTAGCCCTAGAACCCTTAG -3'
(R):5'- ACACGTTAAGTCTAAGCCTGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation