Incidental Mutation 'R1623:Kmt2e'
| ID |
174774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt2e
|
| Ensembl Gene |
ENSMUSG00000029004 |
| Gene Name |
lysine (K)-specific methyltransferase 2E |
| Synonyms |
9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5 |
| MMRRC Submission |
039660-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1623 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
23639439-23709233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23687500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 450
(Y450C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094962]
[ENSMUST00000115128]
[ENSMUST00000146375]
[ENSMUST00000196260]
[ENSMUST00000196889]
|
| AlphaFold |
Q3UG20 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094962
AA Change: Y450C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: Y450C
| 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: Y450C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: Y450C
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 94.9%
- 20x: 87.6%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
A |
T |
2: 22,984,356 (GRCm39) |
D294V |
probably damaging |
Het |
| Actn2 |
A |
T |
13: 12,355,320 (GRCm39) |
I21N |
probably benign |
Het |
| Adamts2 |
C |
A |
11: 50,558,942 (GRCm39) |
P219H |
possibly damaging |
Het |
| Atg16l2 |
A |
G |
7: 100,939,113 (GRCm39) |
F584L |
probably benign |
Het |
| Ccdc81 |
C |
T |
7: 89,535,390 (GRCm39) |
R282Q |
probably benign |
Het |
| Ccn4 |
G |
T |
15: 66,763,448 (GRCm39) |
V12L |
possibly damaging |
Het |
| Cd200r3 |
G |
A |
16: 44,771,811 (GRCm39) |
C25Y |
possibly damaging |
Het |
| Cdkl4 |
C |
T |
17: 80,863,731 (GRCm39) |
|
probably null |
Het |
| Chrne |
T |
C |
11: 70,509,254 (GRCm39) |
E109G |
possibly damaging |
Het |
| Clmp |
A |
G |
9: 40,693,856 (GRCm39) |
T358A |
probably benign |
Het |
| Cmtr1 |
G |
T |
17: 29,906,021 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
A |
G |
3: 130,343,699 (GRCm39) |
E389G |
probably damaging |
Het |
| Ctc1 |
C |
T |
11: 68,911,968 (GRCm39) |
T49M |
probably damaging |
Het |
| Cyth3 |
T |
A |
5: 143,687,127 (GRCm39) |
M120K |
probably damaging |
Het |
| D430041D05Rik |
T |
A |
2: 103,983,308 (GRCm39) |
E1996V |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,928,463 (GRCm39) |
M2069V |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,408,234 (GRCm39) |
Y428H |
probably damaging |
Het |
| Exosc8 |
T |
A |
3: 54,641,752 (GRCm39) |
T7S |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,023,191 (GRCm39) |
Y1583C |
probably damaging |
Het |
| Fam178b |
A |
G |
1: 36,683,405 (GRCm39) |
I105T |
probably damaging |
Het |
| Fam181a |
T |
A |
12: 103,282,591 (GRCm39) |
Y165* |
probably null |
Het |
| Fbn2 |
G |
T |
18: 58,181,620 (GRCm39) |
N1880K |
possibly damaging |
Het |
| Gbgt1 |
A |
T |
2: 28,394,988 (GRCm39) |
M209L |
probably benign |
Het |
| Gkn2 |
C |
A |
6: 87,355,152 (GRCm39) |
Y120* |
probably null |
Het |
| Gm14295 |
T |
A |
2: 176,499,157 (GRCm39) |
D1E |
probably damaging |
Het |
| Gpr141 |
A |
T |
13: 19,936,082 (GRCm39) |
|
probably null |
Het |
| Gramd2b |
C |
A |
18: 56,565,423 (GRCm39) |
P26Q |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,724,771 (GRCm39) |
I1801T |
probably damaging |
Het |
| Gstm3 |
T |
A |
3: 107,875,151 (GRCm39) |
I64F |
possibly damaging |
Het |
| Gtse1 |
A |
G |
15: 85,751,779 (GRCm39) |
Y324C |
probably benign |
Het |
| Hal |
C |
G |
10: 93,352,159 (GRCm39) |
T650R |
probably benign |
Het |
| Hdac7 |
G |
A |
15: 97,706,285 (GRCm39) |
Q293* |
probably null |
Het |
| Hdlbp |
A |
T |
1: 93,351,591 (GRCm39) |
N437K |
probably damaging |
Het |
| Hif1an |
A |
G |
19: 44,557,862 (GRCm39) |
D248G |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,952,901 (GRCm39) |
S406P |
possibly damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,348,051 (GRCm39) |
D4899V |
possibly damaging |
Het |
| Ikzf3 |
C |
T |
11: 98,381,157 (GRCm39) |
|
probably null |
Het |
| Inka2 |
G |
A |
3: 105,624,136 (GRCm39) |
G151D |
probably damaging |
Het |
| Itgb4 |
C |
A |
11: 115,882,142 (GRCm39) |
Y819* |
probably null |
Het |
| Itpripl1 |
T |
C |
2: 126,983,555 (GRCm39) |
D189G |
possibly damaging |
Het |
| Mc4r |
A |
G |
18: 66,993,068 (GRCm39) |
L15P |
probably benign |
Het |
| Mical1 |
T |
G |
10: 41,357,389 (GRCm39) |
|
probably null |
Het |
| Mical3 |
C |
T |
6: 121,001,768 (GRCm39) |
V575M |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,310,547 (GRCm39) |
|
probably null |
Het |
| Mocs2 |
G |
A |
13: 114,961,158 (GRCm39) |
E52K |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,133,104 (GRCm39) |
N415S |
probably damaging |
Het |
| Notch1 |
G |
A |
2: 26,368,624 (GRCm39) |
T555I |
possibly damaging |
Het |
| Notch3 |
T |
C |
17: 32,358,165 (GRCm39) |
D1686G |
probably benign |
Het |
| Oit3 |
A |
G |
10: 59,264,061 (GRCm39) |
F358L |
probably damaging |
Het |
| Or10x1 |
A |
C |
1: 174,196,515 (GRCm39) |
I11L |
probably benign |
Het |
| Or6k4 |
A |
T |
1: 173,964,883 (GRCm39) |
D191V |
probably damaging |
Het |
| Orai1 |
T |
A |
5: 123,167,265 (GRCm39) |
I146N |
probably damaging |
Het |
| Pck1 |
A |
G |
2: 172,996,511 (GRCm39) |
I142V |
probably benign |
Het |
| Pdap1 |
C |
T |
5: 145,069,739 (GRCm39) |
V89M |
possibly damaging |
Het |
| Phf11a |
T |
C |
14: 59,525,000 (GRCm39) |
D68G |
possibly damaging |
Het |
| Pilrb2 |
T |
C |
5: 137,869,510 (GRCm39) |
N30S |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,797,243 (GRCm39) |
V2551I |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,942,611 (GRCm39) |
V132A |
probably damaging |
Het |
| Prr35 |
G |
A |
17: 26,166,508 (GRCm39) |
P343L |
probably benign |
Het |
| Rad18 |
C |
T |
6: 112,605,480 (GRCm39) |
S398N |
probably damaging |
Het |
| Rdh16f1 |
C |
A |
10: 127,626,722 (GRCm39) |
N258K |
probably benign |
Het |
| Riox2 |
A |
G |
16: 59,303,405 (GRCm39) |
H240R |
probably damaging |
Het |
| Ruvbl1 |
C |
T |
6: 88,462,752 (GRCm39) |
A292V |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,794,915 (GRCm39) |
G1151S |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,213,548 (GRCm39) |
I35T |
possibly damaging |
Het |
| Slc1a1 |
T |
A |
19: 28,882,122 (GRCm39) |
M328K |
probably benign |
Het |
| Slc7a13 |
A |
T |
4: 19,824,031 (GRCm39) |
T267S |
possibly damaging |
Het |
| Speer3 |
G |
T |
5: 13,846,335 (GRCm39) |
M218I |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,876,432 (GRCm39) |
I271V |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,863,255 (GRCm39) |
T195A |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,585,964 (GRCm39) |
N280K |
probably benign |
Het |
| Tonsl |
A |
G |
15: 76,522,709 (GRCm39) |
C181R |
probably damaging |
Het |
| Trdn |
A |
G |
10: 33,134,098 (GRCm39) |
K333R |
possibly damaging |
Het |
| Trpc4 |
T |
A |
3: 54,206,600 (GRCm39) |
M600K |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,808,067 (GRCm39) |
Q1183* |
probably null |
Het |
| Ubxn4 |
T |
A |
1: 128,200,588 (GRCm39) |
L360I |
possibly damaging |
Het |
| Ugt2b1 |
T |
A |
5: 87,074,267 (GRCm39) |
T31S |
probably benign |
Het |
| Uspl1 |
T |
C |
5: 149,152,009 (GRCm39) |
S1056P |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,279 (GRCm39) |
K164* |
probably null |
Het |
| Vwce |
T |
A |
19: 10,624,108 (GRCm39) |
L333* |
probably null |
Het |
| Wdr95 |
T |
A |
5: 149,497,581 (GRCm39) |
L253Q |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,143,930 (GRCm39) |
M107V |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,934 (GRCm39) |
T851A |
possibly 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 |
|
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'- TTGGCAGTGTACCTCTGAAAACCTTC -3'
(R):5'- AGTGACATAGCGGGTTGCTTAACAAG -3'
Sequencing Primer
(F):5'- cagaaggcagaggcagg -3'
(R):5'- CGGGTTGCTTAACAAGTTGAAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation