Incidental Mutation 'R4719:Kmt2e'
| ID |
354293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt2e
|
| Ensembl Gene |
ENSMUSG00000029004 |
| Gene Name |
lysine (K)-specific methyltransferase 2E |
| Synonyms |
9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5 |
| MMRRC Submission |
041957-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4719 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
23639439-23709233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 23697313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 590
(R590S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094962]
[ENSMUST00000115128]
[ENSMUST00000126586]
[ENSMUST00000146375]
[ENSMUST00000196260]
|
| AlphaFold |
Q3UG20 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094962
AA Change: R590S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: R590S
| 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: R590S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: R590S
| 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 |
unknown
Transcript: ENSMUST00000146375
AA Change: D142A
|
| SMART Domains |
Protein: ENSMUSP00000142547
Gene: ENSMUSG00000029004
AA Change: D142A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157545
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196260
AA Change: R70S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143791
Gene: ENSMUSG00000029004
AA Change: R70S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197591
|
| Meta Mutation Damage Score |
0.0768 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
99% (76/77) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,089,971 (GRCm39) |
Y971C |
probably damaging |
Het |
| Actr5 |
T |
A |
2: 158,468,433 (GRCm39) |
S188T |
probably damaging |
Het |
| Adamtsl4 |
A |
G |
3: 95,586,896 (GRCm39) |
|
probably null |
Het |
| Agbl2 |
A |
G |
2: 90,645,733 (GRCm39) |
N822S |
probably benign |
Het |
| Ankdd1b |
T |
A |
13: 96,554,255 (GRCm39) |
|
probably benign |
Het |
| Arhgef40 |
C |
T |
14: 52,242,395 (GRCm39) |
|
probably benign |
Het |
| Art5 |
A |
G |
7: 101,747,701 (GRCm39) |
|
probably null |
Het |
| Atpsckmt |
T |
G |
15: 31,608,243 (GRCm39) |
V98G |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,046,390 (GRCm39) |
|
probably benign |
Het |
| Car9 |
G |
A |
4: 43,508,616 (GRCm39) |
W42* |
probably null |
Het |
| Cdh20 |
T |
C |
1: 104,862,035 (GRCm39) |
Y72H |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,043,718 (GRCm39) |
D407G |
possibly damaging |
Het |
| Cngb3 |
T |
A |
4: 19,309,562 (GRCm39) |
D73E |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,945,451 (GRCm39) |
F888I |
probably damaging |
Het |
| Dgat2 |
T |
C |
7: 98,807,504 (GRCm39) |
D222G |
probably benign |
Het |
| Dscaml1 |
T |
C |
9: 45,583,993 (GRCm39) |
M486T |
probably benign |
Het |
| Faim2 |
C |
T |
15: 99,425,460 (GRCm39) |
|
probably null |
Het |
| Fance |
T |
C |
17: 28,537,293 (GRCm39) |
|
probably benign |
Het |
| Fancm |
G |
T |
12: 65,168,480 (GRCm39) |
M1614I |
possibly damaging |
Het |
| Fcrl5 |
A |
T |
3: 87,351,496 (GRCm39) |
N248I |
probably damaging |
Het |
| Foxo3 |
G |
A |
10: 42,073,774 (GRCm39) |
R29W |
probably damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,718,797 (GRCm39) |
Y74H |
probably damaging |
Het |
| Gatd1 |
A |
C |
7: 140,990,981 (GRCm39) |
D55E |
probably benign |
Het |
| Gpr152 |
C |
A |
19: 4,193,223 (GRCm39) |
Q255K |
possibly damaging |
Het |
| Havcr1 |
A |
G |
11: 46,643,268 (GRCm39) |
T63A |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,118,865 (GRCm39) |
|
probably null |
Het |
| Ifit3b |
A |
T |
19: 34,590,030 (GRCm39) |
Q402L |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,322,828 (GRCm39) |
L134S |
probably benign |
Het |
| Kcna10 |
A |
G |
3: 107,102,217 (GRCm39) |
T283A |
probably benign |
Het |
| Lefty1 |
A |
T |
1: 180,765,277 (GRCm39) |
N282Y |
probably benign |
Het |
| Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
| Lrrn2 |
T |
C |
1: 132,866,915 (GRCm39) |
V660A |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,824,935 (GRCm39) |
S1517P |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,881,468 (GRCm39) |
H208R |
probably benign |
Het |
| Mdga2 |
C |
T |
12: 66,517,775 (GRCm39) |
|
probably benign |
Het |
| Mpp2 |
T |
A |
11: 101,955,259 (GRCm39) |
E122V |
possibly damaging |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,526 (GRCm39) |
N70D |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,343,500 (GRCm39) |
E37D |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,274,722 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
T |
C |
2: 155,233,081 (GRCm39) |
|
probably benign |
Het |
| Nfib |
C |
A |
4: 82,422,967 (GRCm39) |
|
probably null |
Het |
| Nostrin |
G |
T |
2: 68,975,156 (GRCm39) |
G24* |
probably null |
Het |
| Nudc |
A |
G |
4: 133,260,576 (GRCm39) |
Y293H |
probably damaging |
Het |
| Or51a42 |
T |
A |
7: 103,707,940 (GRCm39) |
N290Y |
probably damaging |
Het |
| Pcmtd1 |
T |
A |
1: 7,225,325 (GRCm39) |
Y41* |
probably null |
Het |
| Pigt |
T |
C |
2: 164,343,544 (GRCm39) |
L340P |
probably damaging |
Het |
| Pomgnt1 |
T |
C |
4: 116,012,972 (GRCm39) |
Y420H |
probably damaging |
Het |
| Pramel6 |
C |
T |
2: 87,341,096 (GRCm39) |
T476I |
probably benign |
Het |
| Ptprn2 |
T |
A |
12: 116,788,016 (GRCm39) |
H118Q |
possibly damaging |
Het |
| Rasl10a |
G |
A |
11: 5,008,517 (GRCm39) |
S71N |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,310,893 (GRCm39) |
I804V |
probably benign |
Het |
| Rps4l-ps |
T |
C |
7: 114,526,537 (GRCm39) |
|
noncoding transcript |
Het |
| Sash1 |
T |
A |
10: 8,605,477 (GRCm39) |
H971L |
probably benign |
Het |
| Secisbp2 |
T |
A |
13: 51,806,768 (GRCm39) |
F54L |
possibly damaging |
Het |
| Senp1 |
A |
T |
15: 97,954,731 (GRCm39) |
H484Q |
probably benign |
Het |
| Slc12a1 |
T |
C |
2: 124,995,913 (GRCm39) |
I22T |
possibly damaging |
Het |
| Slc25a36 |
A |
G |
9: 96,972,172 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,140,731 (GRCm39) |
S1443T |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,123,319 (GRCm39) |
T385A |
probably benign |
Het |
| Tas2r131 |
T |
A |
6: 132,933,936 (GRCm39) |
H291L |
probably damaging |
Het |
| Thbs3 |
A |
G |
3: 89,124,147 (GRCm39) |
D80G |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,908,394 (GRCm39) |
S1349L |
probably damaging |
Het |
| Toporsl |
A |
G |
4: 52,611,996 (GRCm39) |
R630G |
probably benign |
Het |
| Vmn1r43 |
C |
A |
6: 89,846,837 (GRCm39) |
M216I |
probably benign |
Het |
| Wdr17 |
T |
A |
8: 55,092,911 (GRCm39) |
E1068D |
probably benign |
Het |
| Wnt10a |
G |
A |
1: 74,842,762 (GRCm39) |
V413I |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,126,111 (GRCm39) |
|
probably null |
Het |
| Zfp169 |
T |
C |
13: 48,643,634 (GRCm39) |
I498V |
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 |
|
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'- CTGAGTGGCTGTAATCTGTTCCC -3'
(R):5'- GCCATCACTTTTATCATGGAACTC -3'
Sequencing Primer
(F):5'- AGTGGCTGTAATCTGTTCCCATACC -3'
(R):5'- CTACTGTGTAGAGACTTTAAGGCAC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation