Incidental Mutation 'R5454:Mtmr4'
| ID |
432685 |
| 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 |
043018-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R5454 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87592162-87616302 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 87611042 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 641
(R641*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000119628]
|
| AlphaFold |
Q91XS1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000092802
AA Change: R584*
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: R584*
| 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 null
Transcript: ENSMUST00000103179
AA Change: R641*
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: R641*
| 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 null
Transcript: ENSMUST00000119628
AA Change: R641*
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: R641*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
T |
C |
9: 89,168,988 (GRCm38) |
|
noncoding transcript |
Het |
| Ankfy1 |
A |
T |
11: 72,746,931 (GRCm38) |
H483L |
probably benign |
Het |
| Ankrd46 |
C |
T |
15: 36,479,301 (GRCm38) |
G215R |
probably damaging |
Het |
| Apobec1 |
T |
C |
6: 122,581,368 (GRCm38) |
I143V |
probably benign |
Het |
| Atp2b4 |
C |
A |
1: 133,729,872 (GRCm38) |
V627F |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 45,127,225 (GRCm38) |
Y855* |
probably null |
Het |
| Cd209b |
T |
C |
8: 3,925,396 (GRCm38) |
E88G |
probably damaging |
Het |
| Ceacam14 |
T |
G |
7: 17,814,185 (GRCm38) |
W67G |
probably damaging |
Het |
| Cope |
T |
C |
8: 70,304,656 (GRCm38) |
V50A |
probably benign |
Het |
| Dcaf13 |
C |
A |
15: 39,124,364 (GRCm38) |
D168E |
probably benign |
Het |
| Dhcr7 |
T |
G |
7: 143,837,839 (GRCm38) |
M55R |
probably damaging |
Het |
| Enpp7 |
A |
T |
11: 118,988,808 (GRCm38) |
Y96F |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,584,327 (GRCm38) |
D60G |
probably benign |
Het |
| Fgfr3 |
G |
A |
5: 33,723,298 (GRCm38) |
|
probably benign |
Het |
| Frzb |
T |
C |
2: 80,417,915 (GRCm38) |
D280G |
probably damaging |
Het |
| Gcat |
A |
G |
15: 79,036,410 (GRCm38) |
I317V |
probably benign |
Het |
| Gm13030 |
A |
T |
4: 138,873,509 (GRCm38) |
|
probably benign |
Het |
| Gmds |
A |
G |
13: 32,128,041 (GRCm38) |
L135P |
probably damaging |
Het |
| Htra2 |
G |
A |
6: 83,054,014 (GRCm38) |
P138L |
probably damaging |
Het |
| Il5 |
A |
G |
11: 53,723,799 (GRCm38) |
N89S |
probably damaging |
Het |
| Ints3 |
G |
A |
3: 90,408,527 (GRCm38) |
T310M |
possibly damaging |
Het |
| Itih2 |
T |
C |
2: 10,097,993 (GRCm38) |
I777V |
probably null |
Het |
| Kctd9 |
T |
C |
14: 67,740,387 (GRCm38) |
L382S |
probably damaging |
Het |
| Lor |
A |
G |
3: 92,081,482 (GRCm38) |
S166P |
unknown |
Het |
| Mga |
T |
A |
2: 119,903,329 (GRCm38) |
N219K |
probably damaging |
Het |
| Muc6 |
C |
T |
7: 141,648,813 (GRCm38) |
A611T |
possibly damaging |
Het |
| Obox3-ps8 |
A |
T |
17: 36,453,011 (GRCm38) |
|
noncoding transcript |
Het |
| Or5p54 |
A |
T |
7: 107,954,889 (GRCm38) |
M83L |
probably benign |
Het |
| Otud4 |
C |
T |
8: 79,651,042 (GRCm38) |
L111F |
possibly damaging |
Het |
| Pcdhga12 |
T |
A |
18: 37,766,261 (GRCm38) |
S49T |
possibly damaging |
Het |
| Pcdhgc3 |
A |
G |
18: 37,808,496 (GRCm38) |
D650G |
probably damaging |
Het |
| Pcmt1 |
A |
G |
10: 7,640,745 (GRCm38) |
V167A |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,389,547 (GRCm38) |
|
probably null |
Het |
| Pcx |
G |
T |
19: 4,602,476 (GRCm38) |
V164F |
probably damaging |
Het |
| Plekhg4 |
T |
C |
8: 105,376,113 (GRCm38) |
|
probably null |
Het |
| Pmch |
A |
G |
10: 88,091,845 (GRCm38) |
E136G |
probably damaging |
Het |
| Prkar1a |
A |
G |
11: 109,660,060 (GRCm38) |
D80G |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,730,302 (GRCm38) |
|
probably null |
Het |
| Slc10a7 |
T |
C |
8: 78,686,624 (GRCm38) |
S171P |
possibly damaging |
Het |
| Sox6 |
A |
T |
7: 115,701,773 (GRCm38) |
M153K |
possibly damaging |
Het |
| Srgap2 |
T |
C |
1: 131,289,737 (GRCm38) |
I946V |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,645,483 (GRCm38) |
E71G |
probably benign |
Het |
| Synpo2l |
C |
A |
14: 20,662,292 (GRCm38) |
A87S |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,771,691 (GRCm38) |
D1025G |
unknown |
Het |
| Tnxb |
A |
G |
17: 34,709,625 (GRCm38) |
H2671R |
possibly damaging |
Het |
| Tor1b |
GGACG |
GG |
2: 30,956,945 (GRCm38) |
|
probably benign |
Het |
| Umodl1 |
A |
T |
17: 30,986,465 (GRCm38) |
D649V |
possibly damaging |
Het |
| Usp13 |
G |
T |
3: 32,905,436 (GRCm38) |
A559S |
probably damaging |
Het |
| Vps45 |
G |
A |
3: 96,019,657 (GRCm38) |
P526L |
probably benign |
Het |
| Zfp687 |
A |
G |
3: 95,009,146 (GRCm38) |
V855A |
probably damaging |
Het |
| Zfp771 |
T |
A |
7: 127,254,276 (GRCm38) |
C205S |
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 |
|
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 |
|
|
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'- GCTTTGATGACCTAAATGTGTACC -3'
(R):5'- CTCTTCATTTCCCAGGACACAG -3'
Sequencing Primer
(F):5'- GACCTAAATGTGTACCTTGGAAATTG -3'
(R):5'- TTTCCCAGGACACAGAAGTATTAAGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation