Incidental Mutation 'R9673:Mtmr4'
ID |
728172 |
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 |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.299)
|
Stock # |
R9673 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
87482988-87507128 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87503138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1064
(D1064G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099468
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092802]
[ENSMUST00000093956]
[ENSMUST00000103179]
[ENSMUST00000119628]
|
AlphaFold |
Q91XS1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092802
AA Change: D1007G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090478 Gene: ENSMUSG00000018401 AA Change: D1007G
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 benign
Transcript: ENSMUST00000093956
|
SMART Domains |
Protein: ENSMUSP00000091488 Gene: ENSMUSG00000070345
Domain | Start | End | E-Value | Type |
HSF
|
11 |
153 |
2.35e-9 |
SMART |
Blast:HSF
|
163 |
423 |
1e-149 |
BLAST |
low complexity region
|
442 |
457 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103179
AA Change: D1064G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099468 Gene: ENSMUSG00000018401 AA Change: D1064G
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: D1064G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112902 Gene: ENSMUSG00000018401 AA Change: D1064G
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
T |
C |
2: 35,244,399 (GRCm39) |
K318E |
probably benign |
Het |
Ap5z1 |
T |
C |
5: 142,463,113 (GRCm39) |
F766L |
probably benign |
Het |
Atrnl1 |
A |
G |
19: 57,599,786 (GRCm39) |
M1V |
probably null |
Het |
Atxn1 |
T |
C |
13: 45,710,622 (GRCm39) |
E770G |
probably benign |
Het |
Brwd1 |
T |
G |
16: 95,813,096 (GRCm39) |
I1471L |
probably benign |
Het |
Bud23 |
T |
C |
5: 135,082,571 (GRCm39) |
E66G |
probably benign |
Het |
Cdh8 |
T |
A |
8: 99,757,367 (GRCm39) |
I744L |
possibly damaging |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Cep95 |
C |
A |
11: 106,703,322 (GRCm39) |
H467Q |
probably benign |
Het |
Chd1 |
A |
G |
17: 15,989,023 (GRCm39) |
Y1592C |
probably benign |
Het |
Chkb |
C |
G |
15: 89,313,628 (GRCm39) |
G59A |
probably damaging |
Het |
Copa |
A |
G |
1: 171,945,648 (GRCm39) |
S915G |
probably benign |
Het |
Creb3 |
G |
T |
4: 43,563,191 (GRCm39) |
V97F |
probably damaging |
Het |
Csmd2 |
T |
A |
4: 128,308,062 (GRCm39) |
H1273Q |
|
Het |
Cxcr1 |
T |
C |
1: 74,231,074 (GRCm39) |
N316S |
probably benign |
Het |
Cyct |
A |
T |
2: 76,184,523 (GRCm39) |
I76N |
probably damaging |
Het |
Dmxl2 |
G |
T |
9: 54,294,840 (GRCm39) |
R2412S |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 117,982,513 (GRCm39) |
M2552T |
possibly damaging |
Het |
Dnph1 |
G |
A |
17: 46,809,901 (GRCm39) |
E148K |
possibly damaging |
Het |
Ecpas |
T |
C |
4: 58,822,060 (GRCm39) |
N1169S |
probably benign |
Het |
Esp16 |
T |
A |
17: 39,848,731 (GRCm39) |
Y8* |
probably null |
Het |
Fam186a |
T |
C |
15: 99,841,024 (GRCm39) |
D1740G |
possibly damaging |
Het |
Fam76a |
C |
A |
4: 132,628,557 (GRCm39) |
K300N |
probably damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,856,044 (GRCm39) |
T1944A |
probably benign |
Het |
Frrs1l |
A |
C |
4: 56,990,191 (GRCm39) |
D27E |
|
Het |
G6pc1 |
T |
C |
11: 101,267,380 (GRCm39) |
S277P |
probably damaging |
Het |
Gabrg3 |
T |
A |
7: 56,973,422 (GRCm39) |
I82F |
probably damaging |
Het |
Gm3604 |
G |
T |
13: 62,517,969 (GRCm39) |
Q130K |
probably benign |
Het |
Hhip |
T |
A |
8: 80,719,108 (GRCm39) |
D473V |
probably damaging |
Het |
Ifi209 |
T |
C |
1: 173,470,332 (GRCm39) |
S307P |
probably damaging |
Het |
Ino80c |
C |
T |
18: 24,254,856 (GRCm39) |
M1I |
probably null |
Het |
Jag2 |
G |
T |
12: 112,875,416 (GRCm39) |
C872* |
probably null |
Het |
Kcnma1 |
A |
C |
14: 23,558,123 (GRCm39) |
H474Q |
probably benign |
Het |
Krr1 |
G |
A |
10: 111,818,963 (GRCm39) |
|
probably null |
Het |
Lats1 |
T |
G |
10: 7,588,387 (GRCm39) |
D1001E |
probably benign |
Het |
Lilrb4b |
T |
C |
10: 51,357,753 (GRCm39) |
L149P |
probably benign |
Het |
Lrrk2 |
T |
A |
15: 91,649,884 (GRCm39) |
S1674T |
probably damaging |
Het |
Magi2 |
A |
G |
5: 20,670,582 (GRCm39) |
I309V |
possibly damaging |
Het |
Neb |
C |
T |
2: 52,133,853 (GRCm39) |
|
probably null |
Het |
Nhsl1 |
T |
A |
10: 18,402,665 (GRCm39) |
V1297E |
possibly damaging |
Het |
Nlrp3 |
T |
A |
11: 59,440,148 (GRCm39) |
V575D |
probably damaging |
Het |
Nptx2 |
T |
C |
5: 144,492,159 (GRCm39) |
I312T |
possibly damaging |
Het |
Osm |
A |
G |
11: 4,189,926 (GRCm39) |
T237A |
probably benign |
Het |
Pcdha12 |
T |
C |
18: 37,155,234 (GRCm39) |
V651A |
possibly damaging |
Het |
Pclo |
A |
G |
5: 14,908,758 (GRCm39) |
|
probably null |
Het |
Pdlim3 |
C |
T |
8: 46,368,195 (GRCm39) |
S183L |
possibly damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pgm2 |
T |
A |
5: 64,273,671 (GRCm39) |
M552K |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,386,901 (GRCm39) |
L1258S |
probably benign |
Het |
Proser3 |
T |
G |
7: 30,248,530 (GRCm39) |
T55P |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,300,963 (GRCm39) |
P611Q |
probably damaging |
Het |
Rangap1 |
T |
C |
15: 81,590,637 (GRCm39) |
D485G |
probably benign |
Het |
Rp1 |
G |
A |
1: 4,337,792 (GRCm39) |
T421I |
unknown |
Het |
Ryr3 |
G |
A |
2: 112,486,883 (GRCm39) |
L3862F |
possibly damaging |
Het |
Sbf1 |
C |
T |
15: 89,179,675 (GRCm39) |
G1337R |
possibly damaging |
Het |
Setd2 |
A |
G |
9: 110,378,138 (GRCm39) |
E651G |
probably damaging |
Het |
Shmt1 |
A |
G |
11: 60,692,769 (GRCm39) |
W105R |
probably damaging |
Het |
Skor2 |
C |
T |
18: 76,946,376 (GRCm39) |
H33Y |
unknown |
Het |
Slc22a29 |
T |
C |
19: 8,140,104 (GRCm39) |
I434V |
probably benign |
Het |
Sord |
C |
T |
2: 122,090,712 (GRCm39) |
T221I |
probably benign |
Het |
Speer1g |
T |
A |
5: 11,178,990 (GRCm39) |
N55K |
probably benign |
Het |
Tbcd |
T |
C |
11: 121,464,647 (GRCm39) |
Y561H |
probably damaging |
Het |
Tcaf1 |
G |
A |
6: 42,663,808 (GRCm39) |
S24F |
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,517,196 (GRCm39) |
D1429V |
probably damaging |
Het |
Tesk1 |
A |
G |
4: 43,444,574 (GRCm39) |
Y126C |
probably damaging |
Het |
Tmem176a |
G |
A |
6: 48,820,952 (GRCm39) |
V141I |
probably benign |
Het |
Tmem204 |
A |
T |
17: 25,299,243 (GRCm39) |
V92D |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,572,605 (GRCm39) |
D26096V |
probably damaging |
Het |
Vmn1r70 |
T |
A |
7: 10,368,364 (GRCm39) |
L284Q |
probably damaging |
Het |
Vmn2r77 |
T |
C |
7: 86,450,171 (GRCm39) |
V139A |
possibly damaging |
Het |
Wdpcp |
A |
G |
11: 21,671,285 (GRCm39) |
R509G |
possibly damaging |
Het |
Wee1 |
C |
T |
7: 109,725,210 (GRCm39) |
T284I |
probably damaging |
Het |
Wfs1 |
A |
G |
5: 37,125,113 (GRCm39) |
S593P |
probably damaging |
Het |
Zbtb11 |
A |
G |
16: 55,827,336 (GRCm39) |
H934R |
probably damaging |
Het |
Zfp277 |
A |
T |
12: 40,370,611 (GRCm39) |
V446E |
probably benign |
Het |
Zfp874a |
C |
A |
13: 67,591,156 (GRCm39) |
R176L |
probably benign |
Het |
Znrf2 |
A |
T |
6: 54,840,978 (GRCm39) |
N184I |
probably damaging |
Het |
Zp2 |
T |
A |
7: 119,733,238 (GRCm39) |
T568S |
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 |
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 |
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'- ATGATGATGGACTCCCCTTTC -3'
(R):5'- AAGCAATGTCACTGGAGCAC -3'
Sequencing Primer
(F):5'- GACTCCCCTTTCCCACGGATG -3'
(R):5'- GCCTCCATGCTTCTAAAAATGC -3'
|
Posted On |
2022-10-06 |