Incidental Mutation 'R4754:Kmt2e'
ID |
357787 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kmt2e
|
Ensembl Gene |
ENSMUSG00000029004 |
Gene Name |
lysine (K)-specific methyltransferase 2E |
Synonyms |
9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4754 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
23639439-23709233 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 23687439 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 430
(I430F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110781
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094962]
[ENSMUST00000115128]
[ENSMUST00000146375]
[ENSMUST00000196260]
[ENSMUST00000196889]
|
AlphaFold |
Q3UG20 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094962
AA Change: I430F
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000092569 Gene: ENSMUSG00000029004 AA Change: I430F
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 |
possibly damaging
Transcript: ENSMUST00000115128
AA Change: I430F
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110781 Gene: ENSMUSG00000029004 AA Change: I430F
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: ENSMUST00000146375
|
SMART Domains |
Protein: ENSMUSP00000142547 Gene: ENSMUSG00000029004
Domain | Start | End | E-Value | Type |
low complexity region
|
104 |
117 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157545
|
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: ENSMUST00000196889
|
SMART Domains |
Protein: ENSMUSP00000142568 Gene: ENSMUSG00000029004
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 |
2.7e-10 |
SMART |
Blast:SET
|
216 |
327 |
6e-61 |
BLAST |
Blast:SET
|
328 |
377 |
3e-26 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200330
|
Meta Mutation Damage Score |
0.4371 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
98% (107/109) |
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: 94 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
A |
G |
1: 192,856,837 (GRCm39) |
Y63C |
probably damaging |
Het |
Abcb4 |
C |
A |
5: 8,960,717 (GRCm39) |
F266L |
probably damaging |
Het |
Adam8 |
A |
T |
7: 139,564,693 (GRCm39) |
I681N |
possibly damaging |
Het |
Adgrf3 |
T |
A |
5: 30,402,615 (GRCm39) |
|
probably null |
Het |
Ang2 |
A |
G |
14: 51,432,974 (GRCm39) |
V136A |
probably damaging |
Het |
Ankar |
C |
T |
1: 72,737,853 (GRCm39) |
G110R |
probably damaging |
Het |
Ap3b1 |
T |
C |
13: 94,540,468 (GRCm39) |
L130P |
probably damaging |
Het |
Apc2 |
T |
G |
10: 80,150,192 (GRCm39) |
W1749G |
probably benign |
Het |
Asb2 |
T |
C |
12: 103,290,096 (GRCm39) |
N565S |
possibly damaging |
Het |
B3gnt7 |
C |
A |
1: 86,233,279 (GRCm39) |
T58K |
probably benign |
Het |
Bltp1 |
C |
T |
3: 37,076,615 (GRCm39) |
Q3663* |
probably null |
Het |
Brpf1 |
T |
A |
6: 113,297,408 (GRCm39) |
N876K |
possibly damaging |
Het |
Ccdc157 |
T |
C |
11: 4,098,994 (GRCm39) |
I69V |
possibly damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
A |
T |
1: 104,912,410 (GRCm39) |
I555F |
probably damaging |
Het |
Cfap73 |
T |
C |
5: 120,767,729 (GRCm39) |
D274G |
probably damaging |
Het |
Chd5 |
T |
A |
4: 152,462,203 (GRCm39) |
I1310N |
probably damaging |
Het |
Ckap2 |
T |
A |
8: 22,658,911 (GRCm39) |
I611F |
possibly damaging |
Het |
Cpeb2 |
A |
G |
5: 43,443,200 (GRCm39) |
I964V |
possibly damaging |
Het |
Ctbp2 |
C |
A |
7: 132,625,287 (GRCm39) |
|
probably null |
Het |
Dhrs2 |
A |
T |
14: 55,476,205 (GRCm39) |
I142F |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,421,101 (GRCm39) |
|
probably null |
Het |
Dst |
T |
C |
1: 34,251,390 (GRCm39) |
S1822P |
probably damaging |
Het |
Ect2 |
T |
C |
3: 27,181,112 (GRCm39) |
K581E |
probably damaging |
Het |
Edem1 |
C |
T |
6: 108,818,658 (GRCm39) |
T222M |
probably damaging |
Het |
Eif2ak1 |
A |
G |
5: 143,838,621 (GRCm39) |
M592V |
probably damaging |
Het |
Endou |
T |
G |
15: 97,624,420 (GRCm39) |
D49A |
probably damaging |
Het |
Ensa |
A |
G |
3: 95,529,865 (GRCm39) |
|
probably benign |
Het |
Evc2 |
G |
T |
5: 37,544,375 (GRCm39) |
R708L |
probably damaging |
Het |
Fam120b |
T |
A |
17: 15,643,224 (GRCm39) |
C668S |
probably damaging |
Het |
Fam135a |
A |
T |
1: 24,067,835 (GRCm39) |
C798* |
probably null |
Het |
Fam135b |
T |
C |
15: 71,334,800 (GRCm39) |
D798G |
probably benign |
Het |
Fshb |
A |
C |
2: 106,887,627 (GRCm39) |
*131E |
probably null |
Het |
G3bp2 |
C |
T |
5: 92,202,768 (GRCm39) |
V441M |
possibly damaging |
Het |
Galnt6 |
A |
T |
15: 100,597,105 (GRCm39) |
F354I |
probably damaging |
Het |
Gm1123 |
C |
A |
9: 98,905,293 (GRCm39) |
|
probably null |
Het |
Gm1123 |
A |
T |
9: 98,905,294 (GRCm39) |
|
probably null |
Het |
Gm15130 |
T |
C |
2: 110,973,207 (GRCm39) |
N115S |
unknown |
Het |
Gm7104 |
A |
G |
12: 88,252,765 (GRCm39) |
|
noncoding transcript |
Het |
Gm9762 |
A |
T |
3: 78,873,728 (GRCm39) |
|
noncoding transcript |
Het |
Grip2 |
T |
C |
6: 91,756,173 (GRCm39) |
T505A |
probably damaging |
Het |
Grip2 |
A |
G |
6: 91,756,163 (GRCm39) |
V508A |
probably damaging |
Het |
Haus4 |
A |
G |
14: 54,787,349 (GRCm39) |
|
probably null |
Het |
Herc1 |
T |
A |
9: 66,408,488 (GRCm39) |
D4571E |
probably benign |
Het |
Hnrnpk |
T |
A |
13: 58,546,950 (GRCm39) |
|
probably benign |
Het |
Ica1l |
T |
C |
1: 60,067,321 (GRCm39) |
Y23C |
probably damaging |
Het |
Kansl2-ps |
A |
G |
7: 72,322,881 (GRCm39) |
|
noncoding transcript |
Het |
Kcnma1 |
T |
C |
14: 23,413,904 (GRCm39) |
D833G |
probably damaging |
Het |
Lama2 |
C |
A |
10: 26,994,527 (GRCm39) |
R1794L |
possibly damaging |
Het |
Mcpt1 |
T |
A |
14: 56,256,137 (GRCm39) |
F59I |
probably damaging |
Het |
Mib2 |
G |
T |
4: 155,739,822 (GRCm39) |
T783K |
possibly damaging |
Het |
Nlrp4g |
T |
C |
9: 124,349,788 (GRCm38) |
|
noncoding transcript |
Het |
Nudt16l2 |
A |
T |
9: 105,021,592 (GRCm39) |
F151L |
probably benign |
Het |
Obscn |
T |
C |
11: 58,926,869 (GRCm39) |
I6352V |
possibly damaging |
Het |
Or2j6 |
C |
T |
7: 139,980,072 (GRCm39) |
A296T |
probably damaging |
Het |
Or4a72 |
A |
T |
2: 89,405,391 (GRCm39) |
H226Q |
probably benign |
Het |
Or4k1 |
T |
A |
14: 50,377,490 (GRCm39) |
N202I |
possibly damaging |
Het |
Or4k1 |
T |
G |
14: 50,377,491 (GRCm39) |
N202H |
probably benign |
Het |
Or52a5 |
T |
C |
7: 103,426,875 (GRCm39) |
I226V |
probably benign |
Het |
Or5b125-ps1 |
T |
A |
19: 13,056,225 (GRCm39) |
|
noncoding transcript |
Het |
Pcdh10 |
G |
A |
3: 45,335,072 (GRCm39) |
R462H |
probably damaging |
Het |
Pcdhga12 |
C |
A |
18: 37,899,604 (GRCm39) |
N145K |
probably damaging |
Het |
Pik3r6 |
T |
A |
11: 68,435,601 (GRCm39) |
L613Q |
probably damaging |
Het |
Pknox2 |
T |
C |
9: 36,821,016 (GRCm39) |
D282G |
probably damaging |
Het |
Plod2 |
T |
G |
9: 92,488,584 (GRCm39) |
Y624* |
probably null |
Het |
Prkd3 |
C |
A |
17: 79,264,043 (GRCm39) |
V684F |
probably damaging |
Het |
Ptpn1 |
T |
A |
2: 167,816,080 (GRCm39) |
V198D |
probably damaging |
Het |
Ptpn12 |
G |
T |
5: 21,203,587 (GRCm39) |
P397Q |
probably benign |
Het |
Rad1 |
C |
A |
15: 10,493,212 (GRCm39) |
|
probably benign |
Het |
Rasl11a |
A |
G |
5: 146,783,825 (GRCm39) |
D90G |
probably benign |
Het |
Rnf181 |
A |
G |
6: 72,337,543 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,587,984 (GRCm39) |
I2652M |
possibly damaging |
Het |
Siglecg |
C |
T |
7: 43,061,295 (GRCm39) |
|
probably benign |
Het |
Slc22a3 |
T |
C |
17: 12,726,082 (GRCm39) |
S44G |
probably benign |
Het |
Slc38a1 |
A |
T |
15: 96,474,663 (GRCm39) |
F463I |
probably damaging |
Het |
Smg1 |
A |
T |
7: 117,755,954 (GRCm39) |
|
probably benign |
Het |
Syk |
T |
C |
13: 52,766,295 (GRCm39) |
|
probably benign |
Het |
Tasor |
A |
T |
14: 27,183,052 (GRCm39) |
I504L |
probably benign |
Het |
Tbc1d5 |
T |
C |
17: 51,107,193 (GRCm39) |
I454M |
probably benign |
Het |
Tmed6 |
C |
A |
8: 107,790,362 (GRCm39) |
D146Y |
probably damaging |
Het |
Tmem132e |
A |
T |
11: 82,335,677 (GRCm39) |
K828* |
probably null |
Het |
Tmprss15 |
A |
T |
16: 78,851,012 (GRCm39) |
S294T |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,038,360 (GRCm39) |
S1493P |
probably damaging |
Het |
Tshb |
A |
T |
3: 102,685,491 (GRCm39) |
I46N |
probably damaging |
Het |
Tspan11 |
T |
C |
6: 127,915,183 (GRCm39) |
V99A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,545,905 (GRCm39) |
T24176A |
probably benign |
Het |
Vmn1r8 |
T |
C |
6: 57,012,952 (GRCm39) |
M1T |
probably null |
Het |
Vmn2r104 |
A |
T |
17: 20,261,030 (GRCm39) |
Y464* |
probably null |
Het |
Vmn2r110 |
T |
C |
17: 20,816,458 (GRCm39) |
T22A |
probably benign |
Het |
Vmn2r17 |
T |
A |
5: 109,600,715 (GRCm39) |
I671K |
probably damaging |
Het |
Zbtb21 |
T |
C |
16: 97,752,466 (GRCm39) |
N606D |
probably damaging |
Het |
Zfy2 |
A |
T |
Y: 2,121,477 (GRCm39) |
S139T |
probably benign |
Het |
Zkscan17 |
G |
A |
11: 59,393,851 (GRCm39) |
R156* |
probably null |
Het |
Zp2 |
A |
G |
7: 119,737,541 (GRCm39) |
V248A |
probably benign |
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 |
|
R2571:Kmt2e
|
UTSW |
5 |
23,706,885 (GRCm39) |
missense |
probably benign |
0.08 |
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 |
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'- GAATGGGACTTTTCCATGACATG -3'
(R):5'- GGGTGAAAACCTTGTAACAGC -3'
Sequencing Primer
(F):5'- TCTATAAGTTCTAGGCCAGCCAGG -3'
(R):5'- CACTTAACCCAGAGACTTTTACTG -3'
|
Posted On |
2015-11-11 |