Incidental Mutation 'R1495:Kmt2e'
| ID |
168772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt2e
|
| Ensembl Gene |
ENSMUSG00000029004 |
| Gene Name |
lysine (K)-specific methyltransferase 2E |
| Synonyms |
9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5 |
| MMRRC Submission |
039546-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1495 (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 23704325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1173
(S1173G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088392]
[ENSMUST00000094962]
[ENSMUST00000115128]
[ENSMUST00000126586]
[ENSMUST00000146375]
[ENSMUST00000196260]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000094962
AA Change: S1173G
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: S1173G
| 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: S1173G
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: S1173G
| 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: ENSMUST00000146375
|
| SMART Domains |
Protein: ENSMUSP00000142547
Gene: ENSMUSG00000029004
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
117 |
N/A |
INTRINSIC |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000197591
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,614,356 (GRCm39) |
N488S |
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,593 (GRCm39) |
R383C |
probably damaging |
Het |
| Acsm2 |
A |
G |
7: 119,177,349 (GRCm39) |
D263G |
probably damaging |
Het |
| Adcy2 |
G |
T |
13: 68,944,654 (GRCm39) |
Q243K |
probably benign |
Het |
| Aggf1 |
G |
A |
13: 95,492,921 (GRCm39) |
R563* |
probably null |
Het |
| Agt |
A |
G |
8: 125,286,194 (GRCm39) |
F296S |
probably damaging |
Het |
| Akap14 |
T |
C |
X: 36,427,618 (GRCm39) |
D39G |
possibly damaging |
Het |
| Akt3 |
T |
C |
1: 176,930,608 (GRCm39) |
M117V |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,682,450 (GRCm39) |
T1154A |
probably benign |
Het |
| Arvcf |
T |
A |
16: 18,207,251 (GRCm39) |
L70Q |
probably damaging |
Het |
| Ccdc171 |
A |
T |
4: 83,599,332 (GRCm39) |
K724* |
probably null |
Het |
| Ccdc91 |
A |
G |
6: 147,435,670 (GRCm39) |
T85A |
possibly damaging |
Het |
| Ccdc9b |
T |
G |
2: 118,591,013 (GRCm39) |
K173N |
probably damaging |
Het |
| Cdh3 |
C |
T |
8: 107,265,629 (GRCm39) |
T224I |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,426,876 (GRCm39) |
I482V |
probably benign |
Het |
| Cnot9 |
A |
G |
1: 74,562,759 (GRCm39) |
E176G |
probably damaging |
Het |
| Cntnap4 |
T |
G |
8: 113,608,395 (GRCm39) |
L1272V |
possibly damaging |
Het |
| Cyb5a |
T |
A |
18: 84,869,605 (GRCm39) |
M1K |
probably null |
Het |
| Cyp2c23 |
A |
G |
19: 43,993,947 (GRCm39) |
I473T |
probably benign |
Het |
| Dbil5 |
T |
A |
11: 76,109,276 (GRCm39) |
M60K |
probably benign |
Het |
| Defa38 |
T |
A |
8: 21,585,217 (GRCm39) |
Q75L |
probably benign |
Het |
| Dgkg |
A |
T |
16: 22,319,129 (GRCm39) |
L644Q |
probably damaging |
Het |
| Disp3 |
T |
C |
4: 148,334,282 (GRCm39) |
I1004V |
probably benign |
Het |
| Egf |
T |
A |
3: 129,506,655 (GRCm39) |
I599F |
probably damaging |
Het |
| Epc2 |
A |
G |
2: 49,426,675 (GRCm39) |
T145A |
probably damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Extl3 |
A |
T |
14: 65,313,316 (GRCm39) |
V622E |
probably benign |
Het |
| Fam227a |
C |
T |
15: 79,510,446 (GRCm39) |
V403I |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,153,499 (GRCm39) |
D3571V |
probably benign |
Het |
| Fcho2 |
A |
G |
13: 98,886,358 (GRCm39) |
|
probably null |
Het |
| Fras1 |
A |
G |
5: 96,676,445 (GRCm39) |
N64S |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,366,832 (GRCm39) |
N352S |
possibly damaging |
Het |
| Gabra1 |
T |
C |
11: 42,045,771 (GRCm39) |
N113S |
probably damaging |
Het |
| Glg1 |
T |
C |
8: 111,924,307 (GRCm39) |
Y227C |
probably damaging |
Het |
| Gm5141 |
A |
T |
13: 62,922,084 (GRCm39) |
C362S |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,504,533 (GRCm39) |
T104S |
probably benign |
Het |
| Jph1 |
A |
C |
1: 17,161,876 (GRCm39) |
V262G |
probably benign |
Het |
| Kank1 |
C |
G |
19: 25,387,713 (GRCm39) |
T434R |
probably damaging |
Het |
| Krt75 |
G |
A |
15: 101,482,308 (GRCm39) |
|
probably benign |
Het |
| Lyzl1 |
G |
T |
18: 4,181,192 (GRCm39) |
W77L |
probably null |
Het |
| Nipbl |
T |
G |
15: 8,380,764 (GRCm39) |
N676T |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,970,986 (GRCm39) |
S2300N |
probably damaging |
Het |
| Or9a2 |
T |
G |
6: 41,748,837 (GRCm39) |
Y132S |
probably damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,891,896 (GRCm39) |
M350L |
probably benign |
Het |
| Pecam1 |
T |
C |
11: 106,579,682 (GRCm39) |
D460G |
probably damaging |
Het |
| Pik3c2a |
T |
A |
7: 115,987,300 (GRCm39) |
K540N |
probably benign |
Het |
| Prdm12 |
T |
A |
2: 31,530,205 (GRCm39) |
I32N |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,413,135 (GRCm39) |
S679G |
probably damaging |
Het |
| Psen2 |
C |
T |
1: 180,056,419 (GRCm39) |
A393T |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,583,888 (GRCm39) |
T235S |
probably benign |
Het |
| Ranbp3 |
C |
T |
17: 57,012,527 (GRCm39) |
P182L |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,379,390 (GRCm39) |
K266* |
probably null |
Het |
| Sesn3 |
T |
C |
9: 14,219,817 (GRCm39) |
S69P |
probably damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,184,535 (GRCm39) |
M818T |
probably damaging |
Het |
| Slc25a53 |
C |
A |
X: 135,916,084 (GRCm39) |
C4F |
unknown |
Het |
| Snx1 |
T |
A |
9: 66,003,879 (GRCm39) |
L255F |
probably benign |
Het |
| Sptbn2 |
T |
G |
19: 4,769,004 (GRCm39) |
S46A |
possibly damaging |
Het |
| Taf4 |
A |
G |
2: 179,574,820 (GRCm39) |
F595S |
probably damaging |
Het |
| Tec |
A |
T |
5: 72,944,098 (GRCm39) |
V103E |
probably damaging |
Het |
| Tmco5b |
T |
C |
2: 113,121,136 (GRCm39) |
S147P |
possibly damaging |
Het |
| Uchl5 |
C |
T |
1: 143,675,675 (GRCm39) |
T93I |
possibly damaging |
Het |
| Usp14 |
A |
T |
18: 10,004,994 (GRCm39) |
S225T |
probably benign |
Het |
| Usp45 |
C |
A |
4: 21,797,385 (GRCm39) |
Q238K |
possibly damaging |
Het |
| Vmn1r6 |
T |
A |
6: 56,980,058 (GRCm39) |
M218K |
possibly damaging |
Het |
| Zfp84 |
T |
A |
7: 29,476,728 (GRCm39) |
Y473* |
probably null |
Het |
| Zyg11b |
G |
A |
4: 108,123,410 (GRCm39) |
P186S |
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 |
|
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'- TGAGCAGGCAGCCTTGGAGA -3'
(R):5'- CGGCAGCAGGCGGTGGTAA -3'
Sequencing Primer
(F):5'- agtatagtggaaagagcacgg -3'
(R):5'- aggcggtggTAAAGGCAAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation