Incidental Mutation 'R8137:Kmt2e'
ID |
632296 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kmt2e
|
Ensembl Gene |
ENSMUSG00000029004 |
Gene Name |
lysine (K)-specific methyltransferase 2E |
Synonyms |
9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5 |
MMRRC Submission |
067565-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8137 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
23639439-23709233 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23706952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1505
(Y1505C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092569
(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 damaging
Transcript: ENSMUST00000094962
AA Change: Y1505C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000092569 Gene: ENSMUSG00000029004 AA Change: Y1505C
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 damaging
Transcript: ENSMUST00000115128
AA Change: Y1505C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110781 Gene: ENSMUSG00000029004 AA Change: Y1505C
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: 99.8%
- 3x: 99.6%
- 10x: 98.8%
- 20x: 96.4%
|
Validation Efficiency |
100% (56/56) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankfn1 |
T |
G |
11: 89,344,003 (GRCm39) |
Q326H |
probably benign |
Het |
Carf |
G |
A |
1: 60,187,124 (GRCm39) |
V576I |
probably benign |
Het |
Ccnl1 |
C |
T |
3: 65,865,291 (GRCm39) |
D87N |
possibly damaging |
Het |
Cgref1 |
T |
A |
5: 31,091,749 (GRCm39) |
D111V |
possibly damaging |
Het |
Cnot4 |
G |
A |
6: 35,023,222 (GRCm39) |
P567S |
unknown |
Het |
Cyp7b1 |
A |
T |
3: 18,151,765 (GRCm39) |
D149E |
probably benign |
Het |
Dcc |
A |
T |
18: 71,511,783 (GRCm39) |
D877E |
probably benign |
Het |
Dhx8 |
T |
A |
11: 101,654,808 (GRCm39) |
I1032N |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,272,913 (GRCm39) |
Y2347C |
probably damaging |
Het |
Dtx3 |
A |
G |
10: 127,029,041 (GRCm39) |
S63P |
possibly damaging |
Het |
Dyrk2 |
C |
T |
10: 118,695,789 (GRCm39) |
E490K |
probably benign |
Het |
Fcgbp |
A |
C |
7: 27,804,496 (GRCm39) |
Y1868S |
probably damaging |
Het |
Foxa2 |
T |
C |
2: 147,885,768 (GRCm39) |
H355R |
probably benign |
Het |
Fpr-rs7 |
A |
G |
17: 20,334,055 (GRCm39) |
V145A |
possibly damaging |
Het |
Gm14137 |
A |
T |
2: 119,005,837 (GRCm39) |
E132V |
probably benign |
Het |
Gpn2 |
T |
C |
4: 133,315,873 (GRCm39) |
S211P |
possibly damaging |
Het |
Greb1l |
A |
T |
18: 10,474,357 (GRCm39) |
Q224L |
possibly damaging |
Het |
Gspt1 |
A |
G |
16: 11,058,532 (GRCm39) |
V144A |
probably benign |
Het |
Ifi204 |
A |
G |
1: 173,589,188 (GRCm39) |
I81T |
possibly damaging |
Het |
Il27ra |
T |
A |
8: 84,767,720 (GRCm39) |
|
probably null |
Het |
Kif21a |
T |
C |
15: 90,852,645 (GRCm39) |
T862A |
probably benign |
Het |
Klf2 |
T |
C |
8: 73,074,088 (GRCm39) |
|
probably null |
Het |
Mcm9 |
T |
C |
10: 53,499,076 (GRCm39) |
T216A |
|
Het |
Muc16 |
T |
C |
9: 18,556,972 (GRCm39) |
E3107G |
unknown |
Het |
Ncor2 |
C |
T |
5: 125,114,957 (GRCm39) |
V169I |
|
Het |
Oas3 |
T |
C |
5: 120,915,565 (GRCm39) |
Q42R |
probably benign |
Het |
Or2l5 |
A |
G |
16: 19,333,846 (GRCm39) |
V180A |
possibly damaging |
Het |
Or4p8 |
T |
C |
2: 88,727,013 (GRCm39) |
*309W |
probably null |
Het |
Pde10a |
A |
G |
17: 9,193,647 (GRCm39) |
Y693C |
possibly damaging |
Het |
Pde11a |
T |
C |
2: 76,041,383 (GRCm39) |
E429G |
possibly damaging |
Het |
Pramel23 |
A |
G |
4: 143,425,835 (GRCm39) |
F36S |
probably damaging |
Het |
Pygo1 |
A |
G |
9: 72,852,140 (GRCm39) |
H109R |
probably damaging |
Het |
Rbsn |
A |
T |
6: 92,167,003 (GRCm39) |
V547D |
probably benign |
Het |
Ros1 |
A |
G |
10: 52,001,933 (GRCm39) |
I1084T |
possibly damaging |
Het |
Sis |
T |
C |
3: 72,796,378 (GRCm39) |
D1801G |
probably benign |
Het |
Slco4c1 |
C |
T |
1: 96,748,970 (GRCm39) |
G649E |
probably damaging |
Het |
Spmip10 |
A |
G |
18: 56,727,653 (GRCm39) |
D117G |
probably damaging |
Het |
Sptbn2 |
A |
T |
19: 4,787,431 (GRCm39) |
I914F |
possibly damaging |
Het |
Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
Strc |
C |
T |
2: 121,197,219 (GRCm39) |
G1503R |
probably damaging |
Het |
Sv2c |
T |
A |
13: 96,225,171 (GRCm39) |
Y46F |
probably damaging |
Het |
Tctn3 |
A |
T |
19: 40,593,785 (GRCm39) |
W462R |
probably damaging |
Het |
Tjp3 |
T |
C |
10: 81,109,525 (GRCm39) |
D857G |
probably benign |
Het |
Tor1aip2 |
C |
T |
1: 155,939,414 (GRCm39) |
T242I |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,800,273 (GRCm39) |
I312F |
unknown |
Het |
Vezt |
T |
C |
10: 93,775,154 (GRCm39) |
N94D |
|
Het |
Vmn2r105 |
T |
C |
17: 20,454,966 (GRCm39) |
N57D |
probably benign |
Het |
Wdr59 |
T |
C |
8: 112,212,011 (GRCm39) |
D353G |
|
Het |
Ykt6 |
T |
C |
11: 5,909,368 (GRCm39) |
V59A |
probably damaging |
Het |
Ypel3 |
T |
G |
7: 126,377,269 (GRCm39) |
V54G |
possibly damaging |
Het |
Zfp386 |
T |
A |
12: 116,023,268 (GRCm39) |
C329S |
possibly damaging |
Het |
Zfp451 |
A |
T |
1: 33,821,156 (GRCm39) |
L232H |
possibly damaging |
Het |
Zfp648 |
A |
G |
1: 154,081,110 (GRCm39) |
H423R |
probably damaging |
Het |
Zfp729b |
T |
C |
13: 67,740,861 (GRCm39) |
Y468C |
probably damaging |
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 |
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 |
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'- AAGTTGCACTGTCCTCCGTC -3'
(R):5'- GTTGGGAAAGACTACCTTTTAGCTG -3'
Sequencing Primer
(F):5'- GTCCTCCGTCACCTCACACAG -3'
(R):5'- TAATTCTGAAAGTTTGCAGAGGGC -3'
|
Posted On |
2020-06-30 |