Incidental Mutation 'R2571:Kmt2e'
| ID |
252492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt2e
|
| Ensembl Gene |
ENSMUSG00000029004 |
| Gene Name |
lysine (K)-specific methyltransferase 2E |
| Synonyms |
9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5 |
| MMRRC Submission |
040429-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2571 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
23639439-23709233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23706885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 1483
(F1483I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088392]
[ENSMUST00000094962]
[ENSMUST00000115128]
[ENSMUST00000126586]
[ENSMUST00000196260]
[ENSMUST00000196929]
|
| AlphaFold |
Q3UG20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088392
|
| SMART Domains |
Protein: ENSMUSP00000085734
Gene: ENSMUSG00000062604
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
46 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
79 |
228 |
1.3e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
79 |
228 |
1e-9 |
PFAM |
|
coiled coil region
|
263 |
314 |
N/A |
INTRINSIC |
|
coiled coil region
|
339 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
406 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
506 |
680 |
1.9e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094962
AA Change: F1483I
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: F1483I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
109 |
N/A |
INTRINSIC |
|
PHD
|
120 |
164 |
4.25e-8 |
SMART |
|
SET
|
328 |
453 |
2.13e-26 |
SMART |
|
low complexity region
|
487 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
867 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
908 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
945 |
N/A |
INTRINSIC |
|
low complexity region
|
951 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
1184 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1214 |
1237 |
N/A |
INTRINSIC |
|
low complexity region
|
1294 |
1312 |
N/A |
INTRINSIC |
|
low complexity region
|
1348 |
1367 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1434 |
1496 |
6.13e-7 |
PROSPERO |
|
low complexity region
|
1506 |
1518 |
N/A |
INTRINSIC |
|
low complexity region
|
1625 |
1641 |
N/A |
INTRINSIC |
|
low complexity region
|
1677 |
1705 |
N/A |
INTRINSIC |
|
low complexity region
|
1720 |
1731 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1783 |
1842 |
6.13e-7 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115128
AA Change: F1483I
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: F1483I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
109 |
N/A |
INTRINSIC |
|
PHD
|
120 |
164 |
4.25e-8 |
SMART |
|
SET
|
328 |
453 |
2.13e-26 |
SMART |
|
low complexity region
|
487 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
867 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
908 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
945 |
N/A |
INTRINSIC |
|
low complexity region
|
951 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
1184 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1214 |
1237 |
N/A |
INTRINSIC |
|
low complexity region
|
1294 |
1312 |
N/A |
INTRINSIC |
|
low complexity region
|
1348 |
1367 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1434 |
1496 |
6.13e-7 |
PROSPERO |
|
low complexity region
|
1506 |
1518 |
N/A |
INTRINSIC |
|
low complexity region
|
1625 |
1641 |
N/A |
INTRINSIC |
|
low complexity region
|
1677 |
1705 |
N/A |
INTRINSIC |
|
low complexity region
|
1720 |
1731 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1783 |
1842 |
6.13e-7 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126586
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196260
|
| SMART Domains |
Protein: ENSMUSP00000143791
Gene: ENSMUSG00000029004
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196929
|
| SMART Domains |
Protein: ENSMUSP00000143216
Gene: ENSMUSG00000062604
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
131 |
2.6e-8 |
PFAM |
|
Pfam:Pkinase
|
2 |
130 |
2.3e-18 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal and postnatal lethality, reduced fertility and growth, and abnormal lymphopoiesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,289,044 (GRCm39) |
N2438S |
probably benign |
Het |
| Ago3 |
G |
A |
4: 126,257,604 (GRCm39) |
R476W |
probably damaging |
Het |
| Akap8 |
T |
C |
17: 32,534,429 (GRCm39) |
E339G |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,395,498 (GRCm39) |
V658A |
probably damaging |
Het |
| Bcl3 |
T |
C |
7: 19,543,452 (GRCm39) |
D338G |
probably damaging |
Het |
| Bpnt2 |
C |
T |
4: 4,778,192 (GRCm39) |
|
probably null |
Het |
| Ccdc138 |
T |
C |
10: 58,349,044 (GRCm39) |
Y197H |
probably benign |
Het |
| Ccdc162 |
T |
A |
10: 41,428,393 (GRCm39) |
Q499L |
probably damaging |
Het |
| Ccser1 |
G |
A |
6: 61,399,944 (GRCm39) |
C21Y |
probably damaging |
Het |
| Chil6 |
A |
T |
3: 106,297,709 (GRCm39) |
Y229* |
probably null |
Het |
| Cntnap5a |
C |
T |
1: 116,112,092 (GRCm39) |
R461C |
probably damaging |
Het |
| Col19a1 |
T |
A |
1: 24,413,712 (GRCm39) |
R407S |
unknown |
Het |
| Crlf3 |
A |
T |
11: 79,938,339 (GRCm39) |
F433I |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
T |
5: 124,852,542 (GRCm39) |
R1867W |
probably damaging |
Het |
| Dsg3 |
T |
C |
18: 20,673,062 (GRCm39) |
V911A |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,792,581 (GRCm39) |
|
probably null |
Het |
| Evpl |
T |
C |
11: 116,128,795 (GRCm39) |
Q10R |
unknown |
Het |
| Glra3 |
C |
T |
8: 56,563,516 (GRCm39) |
A337V |
probably benign |
Het |
| H2-T5 |
C |
T |
17: 36,478,553 (GRCm39) |
G132R |
possibly damaging |
Het |
| Hcfc2 |
T |
C |
10: 82,544,857 (GRCm39) |
F163S |
probably damaging |
Het |
| Hells |
T |
C |
19: 38,948,177 (GRCm39) |
V701A |
possibly damaging |
Het |
| Helz |
A |
G |
11: 107,504,778 (GRCm39) |
T422A |
probably benign |
Het |
| Hhat |
G |
A |
1: 192,235,330 (GRCm39) |
T442I |
probably damaging |
Het |
| Hmces |
A |
T |
6: 87,913,202 (GRCm39) |
Q319L |
possibly damaging |
Het |
| Ighv1-62-1 |
T |
A |
12: 115,350,377 (GRCm39) |
T97S |
probably damaging |
Het |
| Kcne2 |
C |
T |
16: 92,093,800 (GRCm39) |
T109I |
probably damaging |
Het |
| Kcnq1 |
T |
G |
7: 142,661,433 (GRCm39) |
L113R |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 940,932 (GRCm39) |
S1106P |
probably benign |
Het |
| Kel |
C |
A |
6: 41,665,001 (GRCm39) |
A588S |
possibly damaging |
Het |
| Krt4 |
T |
A |
15: 101,829,692 (GRCm39) |
N279Y |
probably damaging |
Het |
| Lama4 |
T |
A |
10: 38,918,671 (GRCm39) |
M384K |
possibly damaging |
Het |
| Lepr |
C |
T |
4: 101,625,369 (GRCm39) |
T508I |
possibly damaging |
Het |
| Lypd10 |
A |
G |
7: 24,412,819 (GRCm39) |
I76V |
probably benign |
Het |
| Map1lc3b |
T |
A |
8: 122,320,213 (GRCm39) |
|
probably null |
Het |
| Me1 |
T |
C |
9: 86,536,751 (GRCm39) |
H108R |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,261,770 (GRCm39) |
S560P |
probably damaging |
Het |
| Mmp3 |
T |
A |
9: 7,451,844 (GRCm39) |
I394N |
possibly damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,124,896 (GRCm39) |
S826P |
probably damaging |
Het |
| Or13n4 |
T |
A |
7: 106,422,933 (GRCm39) |
M267L |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,945,667 (GRCm39) |
L138P |
probably damaging |
Het |
| Pcdhga11 |
G |
A |
18: 37,889,921 (GRCm39) |
E310K |
probably damaging |
Het |
| Pcif1 |
A |
G |
2: 164,726,131 (GRCm39) |
D39G |
probably damaging |
Het |
| Ppp1r21 |
C |
T |
17: 88,852,810 (GRCm39) |
T63I |
probably benign |
Het |
| Prickle2 |
T |
C |
6: 92,682,381 (GRCm39) |
Q25R |
probably benign |
Het |
| Ptk2 |
A |
G |
15: 73,103,768 (GRCm39) |
L94P |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,122,135 (GRCm38) |
F333S |
probably benign |
Het |
| Rag2 |
T |
A |
2: 101,460,312 (GRCm39) |
H207Q |
probably damaging |
Het |
| Rps6ka1 |
G |
T |
4: 133,587,923 (GRCm39) |
|
probably null |
Het |
| Rps6ka4 |
G |
T |
19: 6,815,471 (GRCm39) |
H174Q |
probably damaging |
Het |
| Rreb1 |
C |
A |
13: 38,083,613 (GRCm39) |
T92K |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,708,987 (GRCm39) |
M4793K |
unknown |
Het |
| Ryr1 |
T |
A |
7: 28,735,551 (GRCm39) |
M4076L |
possibly damaging |
Het |
| Sec16a |
A |
C |
2: 26,329,343 (GRCm39) |
S891A |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,241,340 (GRCm39) |
Y132H |
probably damaging |
Het |
| Sos2 |
T |
A |
12: 69,682,492 (GRCm39) |
E242V |
possibly damaging |
Het |
| Spata31d1c |
G |
T |
13: 65,184,198 (GRCm39) |
R580L |
probably damaging |
Het |
| Spata9 |
C |
A |
13: 76,115,880 (GRCm39) |
|
probably benign |
Het |
| Tead2 |
T |
A |
7: 44,875,194 (GRCm39) |
V202E |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,762,068 (GRCm39) |
K168E |
probably damaging |
Het |
| Tmem64 |
T |
C |
4: 15,266,718 (GRCm39) |
I256T |
probably damaging |
Het |
| Tra2a |
G |
T |
6: 49,229,421 (GRCm39) |
|
probably benign |
Het |
| Trim30a |
T |
A |
7: 104,078,533 (GRCm39) |
N181I |
possibly damaging |
Het |
| Ttc13 |
A |
C |
8: 125,410,538 (GRCm39) |
Y372D |
probably damaging |
Het |
| Vit |
T |
C |
17: 78,894,174 (GRCm39) |
V192A |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,064,764 (GRCm39) |
T41A |
probably benign |
Het |
| Vps13d |
C |
A |
4: 144,875,706 (GRCm39) |
K1600N |
probably benign |
Het |
| Xpnpep3 |
A |
T |
15: 81,335,127 (GRCm39) |
H420L |
probably damaging |
Het |
| Zfp322a |
A |
G |
13: 23,540,614 (GRCm39) |
L376P |
probably damaging |
Het |
| Zfp619 |
T |
C |
7: 39,186,595 (GRCm39) |
L875P |
probably damaging |
Het |
| Zic5 |
T |
A |
14: 122,696,890 (GRCm39) |
Q575L |
unknown |
Het |
|
| Other mutations in Kmt2e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00783:Kmt2e
|
APN |
5 |
23,697,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01330:Kmt2e
|
APN |
5 |
23,702,946 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01457:Kmt2e
|
APN |
5 |
23,707,017 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01691:Kmt2e
|
APN |
5 |
23,702,089 (GRCm39) |
missense |
probably benign |
|
|
IGL02274:Kmt2e
|
APN |
5 |
23,705,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02934:Kmt2e
|
APN |
5 |
23,702,882 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02964:Kmt2e
|
APN |
5 |
23,672,098 (GRCm39) |
splice site |
probably benign |
|
|
IGL03011:Kmt2e
|
APN |
5 |
23,702,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03291:Kmt2e
|
APN |
5 |
23,704,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0035:Kmt2e
|
UTSW |
5 |
23,690,619 (GRCm39) |
splice site |
probably benign |
|
|
R0446:Kmt2e
|
UTSW |
5 |
23,702,532 (GRCm39) |
splice site |
probably null |
|
|
R0498:Kmt2e
|
UTSW |
5 |
23,683,970 (GRCm39) |
nonsense |
probably null |
|
|
R0699:Kmt2e
|
UTSW |
5 |
23,678,581 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0701:Kmt2e
|
UTSW |
5 |
23,678,581 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0761:Kmt2e
|
UTSW |
5 |
23,708,032 (GRCm39) |
nonsense |
probably null |
|
|
R1110:Kmt2e
|
UTSW |
5 |
23,707,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Kmt2e
|
UTSW |
5 |
23,707,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1432:Kmt2e
|
UTSW |
5 |
23,655,319 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1495:Kmt2e
|
UTSW |
5 |
23,704,325 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1505:Kmt2e
|
UTSW |
5 |
23,705,533 (GRCm39) |
missense |
probably null |
0.01 |
|
R1623:Kmt2e
|
UTSW |
5 |
23,687,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Kmt2e
|
UTSW |
5 |
23,687,451 (GRCm39) |
nonsense |
probably null |
|
|
R1691:Kmt2e
|
UTSW |
5 |
23,669,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1778:Kmt2e
|
UTSW |
5 |
23,697,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1820:Kmt2e
|
UTSW |
5 |
23,678,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1846:Kmt2e
|
UTSW |
5 |
23,704,484 (GRCm39) |
intron |
probably benign |
|
|
R1912:Kmt2e
|
UTSW |
5 |
23,697,393 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2070:Kmt2e
|
UTSW |
5 |
23,706,993 (GRCm39) |
missense |
probably benign |
|
|
R2195:Kmt2e
|
UTSW |
5 |
23,707,194 (GRCm39) |
splice site |
probably null |
|
|
R3901:Kmt2e
|
UTSW |
5 |
23,706,640 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3902:Kmt2e
|
UTSW |
5 |
23,706,640 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3905:Kmt2e
|
UTSW |
5 |
23,706,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3906:Kmt2e
|
UTSW |
5 |
23,706,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3909:Kmt2e
|
UTSW |
5 |
23,706,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3956:Kmt2e
|
UTSW |
5 |
23,701,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4242:Kmt2e
|
UTSW |
5 |
23,707,820 (GRCm39) |
unclassified |
probably benign |
|
|
R4299:Kmt2e
|
UTSW |
5 |
23,669,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4448:Kmt2e
|
UTSW |
5 |
23,669,788 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4528:Kmt2e
|
UTSW |
5 |
23,678,556 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4574:Kmt2e
|
UTSW |
5 |
23,697,405 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4719:Kmt2e
|
UTSW |
5 |
23,697,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4754:Kmt2e
|
UTSW |
5 |
23,687,439 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4787:Kmt2e
|
UTSW |
5 |
23,668,081 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4812:Kmt2e
|
UTSW |
5 |
23,707,585 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4853:Kmt2e
|
UTSW |
5 |
23,707,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5138:Kmt2e
|
UTSW |
5 |
23,707,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5306:Kmt2e
|
UTSW |
5 |
23,704,331 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5659:Kmt2e
|
UTSW |
5 |
23,702,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5907:Kmt2e
|
UTSW |
5 |
23,669,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Kmt2e
|
UTSW |
5 |
23,704,440 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6280:Kmt2e
|
UTSW |
5 |
23,704,514 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6353:Kmt2e
|
UTSW |
5 |
23,698,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6375:Kmt2e
|
UTSW |
5 |
23,704,517 (GRCm39) |
missense |
probably benign |
|
|
R6553:Kmt2e
|
UTSW |
5 |
23,668,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6572:Kmt2e
|
UTSW |
5 |
23,702,579 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6678:Kmt2e
|
UTSW |
5 |
23,704,293 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6791:Kmt2e
|
UTSW |
5 |
23,704,474 (GRCm39) |
intron |
probably benign |
|
|
R6792:Kmt2e
|
UTSW |
5 |
23,704,474 (GRCm39) |
intron |
probably benign |
|
|
R6794:Kmt2e
|
UTSW |
5 |
23,704,474 (GRCm39) |
intron |
probably benign |
|
|
R6797:Kmt2e
|
UTSW |
5 |
23,687,505 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6947:Kmt2e
|
UTSW |
5 |
23,702,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:Kmt2e
|
UTSW |
5 |
23,705,485 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7036:Kmt2e
|
UTSW |
5 |
23,683,741 (GRCm39) |
missense |
probably null |
1.00 |
|
R7173:Kmt2e
|
UTSW |
5 |
23,669,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7202:Kmt2e
|
UTSW |
5 |
23,697,292 (GRCm39) |
unclassified |
probably benign |
|
|
R7563:Kmt2e
|
UTSW |
5 |
23,705,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Kmt2e
|
UTSW |
5 |
23,683,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Kmt2e
|
UTSW |
5 |
23,706,763 (GRCm39) |
missense |
not run |
|
|
R7722:Kmt2e
|
UTSW |
5 |
23,702,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7758:Kmt2e
|
UTSW |
5 |
23,701,068 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7794:Kmt2e
|
UTSW |
5 |
23,669,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8137:Kmt2e
|
UTSW |
5 |
23,706,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8341:Kmt2e
|
UTSW |
5 |
23,704,451 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8383:Kmt2e
|
UTSW |
5 |
23,690,539 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8400:Kmt2e
|
UTSW |
5 |
23,702,090 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8546:Kmt2e
|
UTSW |
5 |
23,686,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Kmt2e
|
UTSW |
5 |
23,698,215 (GRCm39) |
missense |
probably benign |
|
|
R8786:Kmt2e
|
UTSW |
5 |
23,669,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9211:Kmt2e
|
UTSW |
5 |
23,669,770 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9660:Kmt2e
|
UTSW |
5 |
23,683,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9786:Kmt2e
|
UTSW |
5 |
23,702,982 (GRCm39) |
missense |
probably benign |
0.16 |
|
RF026:Kmt2e
|
UTSW |
5 |
23,683,507 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF028:Kmt2e
|
UTSW |
5 |
23,683,507 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF040:Kmt2e
|
UTSW |
5 |
23,683,507 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF042:Kmt2e
|
UTSW |
5 |
23,683,507 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Z1177:Kmt2e
|
UTSW |
5 |
23,686,206 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTGAGTGCGAATGATCAAC -3'
(R):5'- CTGAAAGTTTGCAGAGGGCTG -3'
Sequencing Primer
(F):5'- GTGCGAATGATCAACTTCCG -3'
(R):5'- AGACTCTGTTGGTTGAACTGAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation