Incidental Mutation 'R1432:Kmt2e'
| ID |
162292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt2e
|
| Ensembl Gene |
ENSMUSG00000029004 |
| Gene Name |
lysine (K)-specific methyltransferase 2E |
| Synonyms |
9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5 |
| MMRRC Submission |
039487-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1432 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
23639439-23709233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23655319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 19
(M19T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094962]
[ENSMUST00000115128]
[ENSMUST00000196889]
|
| AlphaFold |
Q3UG20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094962
AA Change: M19T
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: M19T
| 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: M19T
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: M19T
| 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: ENSMUST00000196889
AA Change: M19T
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142568
Gene: ENSMUSG00000029004
AA Change: M19T
| 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 |
|
| Meta Mutation Damage Score |
0.4769 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.1%
|
| Validation Efficiency |
98% (90/92) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,217,361 (GRCm39) |
|
probably null |
Het |
| 9130401M01Rik |
A |
T |
15: 57,892,256 (GRCm39) |
L117Q |
probably damaging |
Het |
| Abcb1b |
A |
G |
5: 8,887,771 (GRCm39) |
K886E |
possibly damaging |
Het |
| Acaa2 |
A |
T |
18: 74,920,198 (GRCm39) |
I9F |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 30,929,901 (GRCm39) |
S386T |
probably damaging |
Het |
| Acsm2 |
A |
T |
7: 119,172,798 (GRCm39) |
I138F |
possibly damaging |
Het |
| Agl |
T |
C |
3: 116,540,342 (GRCm39) |
Y1424C |
probably damaging |
Het |
| Aoc1l1 |
T |
A |
6: 48,952,588 (GRCm39) |
F171Y |
probably damaging |
Het |
| Apc2 |
T |
C |
10: 80,148,183 (GRCm39) |
V1079A |
probably benign |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Armc8 |
C |
T |
9: 99,405,185 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,588,476 (GRCm39) |
Y953C |
probably damaging |
Het |
| Cdk13 |
G |
A |
13: 17,893,001 (GRCm39) |
A720V |
probably damaging |
Het |
| Chka |
T |
C |
19: 3,924,809 (GRCm39) |
|
probably benign |
Het |
| Clcc1 |
T |
C |
3: 108,575,418 (GRCm39) |
I165T |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Dip2c |
C |
A |
13: 9,603,340 (GRCm39) |
P297Q |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 117,914,153 (GRCm39) |
W4429R |
probably damaging |
Het |
| Dram2 |
T |
C |
3: 106,478,082 (GRCm39) |
V138A |
possibly damaging |
Het |
| Dus4l |
T |
C |
12: 31,698,770 (GRCm39) |
N78S |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Ebf1 |
T |
C |
11: 44,895,533 (GRCm39) |
|
probably benign |
Het |
| Epm2a |
T |
A |
10: 11,266,587 (GRCm39) |
Y111N |
probably damaging |
Het |
| Gm773 |
T |
C |
X: 55,247,377 (GRCm39) |
T52A |
probably benign |
Het |
| Gpam |
C |
A |
19: 55,067,693 (GRCm39) |
M483I |
probably damaging |
Het |
| Gpr12 |
T |
C |
5: 146,520,235 (GRCm39) |
H229R |
probably damaging |
Het |
| Gpr149 |
T |
C |
3: 62,438,439 (GRCm39) |
T573A |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hells |
T |
A |
19: 38,945,628 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
A |
9: 66,372,751 (GRCm39) |
N3102K |
probably benign |
Het |
| Herc3 |
A |
T |
6: 58,893,827 (GRCm39) |
T968S |
possibly damaging |
Het |
| Ift88 |
A |
G |
14: 57,674,736 (GRCm39) |
Y69C |
probably benign |
Het |
| Incenp |
G |
A |
19: 9,862,890 (GRCm39) |
T388M |
unknown |
Het |
| Jrkl |
A |
G |
9: 13,245,337 (GRCm39) |
F108S |
probably benign |
Het |
| Khdc1a |
A |
G |
1: 21,420,542 (GRCm39) |
E54G |
possibly damaging |
Het |
| Kif6 |
T |
A |
17: 49,927,728 (GRCm39) |
F58L |
probably damaging |
Het |
| Klk14 |
T |
C |
7: 43,344,342 (GRCm39) |
S218P |
probably damaging |
Het |
| Llgl1 |
G |
T |
11: 60,599,380 (GRCm39) |
G454C |
probably damaging |
Het |
| Lyrm4 |
A |
G |
13: 36,276,898 (GRCm39) |
V33A |
probably benign |
Het |
| Mcam |
C |
T |
9: 44,052,588 (GRCm39) |
R606C |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,733,301 (GRCm39) |
M692K |
probably damaging |
Het |
| Mmp28 |
C |
T |
11: 83,333,765 (GRCm39) |
R392H |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,210,788 (GRCm39) |
T1699M |
probably damaging |
Het |
| Mrps11 |
T |
C |
7: 78,433,310 (GRCm39) |
|
probably benign |
Het |
| Mrtfb |
A |
G |
16: 13,218,866 (GRCm39) |
N504S |
probably benign |
Het |
| Msmo1 |
A |
G |
8: 65,180,650 (GRCm39) |
|
probably benign |
Het |
| Mst1 |
A |
G |
9: 107,961,403 (GRCm39) |
E571G |
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,265,723 (GRCm39) |
E1585G |
probably damaging |
Het |
| Myrfl |
A |
G |
10: 116,613,332 (GRCm39) |
C824R |
probably damaging |
Het |
| Ncapd3 |
C |
T |
9: 26,981,168 (GRCm39) |
|
probably benign |
Het |
| Nlrp4a |
G |
GGTTCTTC |
7: 26,163,622 (GRCm39) |
|
probably null |
Het |
| Nos1 |
C |
T |
5: 118,087,684 (GRCm39) |
|
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,383,198 (GRCm39) |
S47G |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,221,371 (GRCm39) |
Y122C |
probably damaging |
Het |
| Or10ak12 |
T |
C |
4: 118,666,435 (GRCm39) |
M209V |
probably benign |
Het |
| Or1j11 |
C |
T |
2: 36,311,655 (GRCm39) |
L82F |
probably damaging |
Het |
| Or5a1 |
G |
T |
19: 12,097,603 (GRCm39) |
R158S |
possibly damaging |
Het |
| Or6c1b |
C |
T |
10: 129,272,807 (GRCm39) |
T42I |
probably damaging |
Het |
| Or6k2 |
T |
A |
1: 173,986,483 (GRCm39) |
V48E |
possibly damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,548 (GRCm39) |
L145M |
possibly damaging |
Het |
| Otog |
G |
T |
7: 45,950,007 (GRCm39) |
V2490F |
probably damaging |
Het |
| Pibf1 |
T |
C |
14: 99,350,425 (GRCm39) |
V191A |
probably benign |
Het |
| Pip |
A |
G |
6: 41,826,852 (GRCm39) |
M66V |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,449,771 (GRCm39) |
R830C |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,830,346 (GRCm39) |
V248E |
probably benign |
Het |
| Prmt7 |
T |
A |
8: 106,963,916 (GRCm39) |
L253* |
probably null |
Het |
| Prrc2a |
G |
T |
17: 35,372,888 (GRCm39) |
|
probably benign |
Het |
| Rasgrf1 |
A |
G |
9: 89,894,853 (GRCm39) |
D1091G |
probably benign |
Het |
| Rbm7 |
C |
A |
9: 48,401,245 (GRCm39) |
G161V |
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,152,773 (GRCm39) |
I736N |
probably damaging |
Het |
| Skint6 |
A |
G |
4: 112,726,721 (GRCm39) |
|
probably benign |
Het |
| Slc22a2 |
C |
T |
17: 12,803,195 (GRCm39) |
H10Y |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stam2 |
A |
G |
2: 52,604,821 (GRCm39) |
|
probably benign |
Het |
| Stk40 |
T |
C |
4: 126,030,626 (GRCm39) |
L282P |
probably damaging |
Het |
| Tas2r110 |
A |
G |
6: 132,845,331 (GRCm39) |
N121D |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 55,893,758 (GRCm39) |
Y1272H |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,665,970 (GRCm39) |
F164S |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,836,021 (GRCm39) |
D696G |
probably damaging |
Het |
| Trdmt1 |
T |
C |
2: 13,524,657 (GRCm39) |
Y266C |
probably damaging |
Het |
| Trim5 |
G |
T |
7: 103,928,726 (GRCm39) |
H72N |
probably benign |
Het |
| Trim5 |
A |
C |
7: 103,928,728 (GRCm39) |
L71R |
probably benign |
Het |
| Twf2 |
T |
A |
9: 106,092,012 (GRCm39) |
|
probably benign |
Het |
| Ubap2l |
T |
C |
3: 89,926,635 (GRCm39) |
T580A |
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,143,982 (GRCm39) |
R201C |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,152,285 (GRCm39) |
|
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,155 (GRCm39) |
N394S |
possibly damaging |
Het |
| Wrn |
A |
T |
8: 33,809,169 (GRCm39) |
|
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 |
|
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 |
|
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'- TGCACTTAGATGTTTGCAATGAGCAC -3'
(R):5'- GCTACCTGTCTTTAGAAGCCTCAAGGTC -3'
Sequencing Primer
(F):5'- TGCAATGAGCACTGTGGC -3'
(R):5'- CACTATTTGGATGTGACAACTGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation