Incidental Mutation 'R1495:Kmt2e'
| ID |
168772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt2e
|
| Ensembl Gene |
ENSMUSG00000029004 |
| Gene Name |
lysine (K)-specific methyltransferase 2E |
| Synonyms |
D230038D11Rik, 9530077A04Rik, 1810033J14Rik, 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 |
23434441-23504235 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23499327 bp (GRCm38)
|
| 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: 119,477,820 (GRCm38) |
N488S |
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,507 (GRCm38) |
R383C |
probably damaging |
Het |
| Acsm2 |
A |
G |
7: 119,578,126 (GRCm38) |
D263G |
probably damaging |
Het |
| Adcy2 |
G |
T |
13: 68,796,535 (GRCm38) |
Q243K |
probably benign |
Het |
| Aggf1 |
G |
A |
13: 95,356,413 (GRCm38) |
R563* |
probably null |
Het |
| Agt |
A |
G |
8: 124,559,455 (GRCm38) |
F296S |
probably damaging |
Het |
| Akap14 |
T |
C |
X: 37,163,965 (GRCm38) |
D39G |
possibly damaging |
Het |
| Akt3 |
T |
C |
1: 177,103,042 (GRCm38) |
M117V |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,643,291 (GRCm38) |
T1154A |
probably benign |
Het |
| Arvcf |
T |
A |
16: 18,389,386 (GRCm38) |
L70Q |
probably damaging |
Het |
| Ccdc171 |
A |
T |
4: 83,681,095 (GRCm38) |
K724* |
probably null |
Het |
| Ccdc91 |
A |
G |
6: 147,534,172 (GRCm38) |
T85A |
possibly damaging |
Het |
| Ccdc9b |
T |
G |
2: 118,760,532 (GRCm38) |
K173N |
probably damaging |
Het |
| Cdh3 |
C |
T |
8: 106,538,997 (GRCm38) |
T224I |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,449,917 (GRCm38) |
I482V |
probably benign |
Het |
| Cnot9 |
A |
G |
1: 74,523,600 (GRCm38) |
E176G |
probably damaging |
Het |
| Cntnap4 |
T |
G |
8: 112,881,763 (GRCm38) |
L1272V |
possibly damaging |
Het |
| Cyb5a |
T |
A |
18: 84,851,480 (GRCm38) |
M1K |
probably null |
Het |
| Cyp2c23 |
A |
G |
19: 44,005,508 (GRCm38) |
I473T |
probably benign |
Het |
| Dbil5 |
T |
A |
11: 76,218,450 (GRCm38) |
M60K |
probably benign |
Het |
| Defa38 |
T |
A |
8: 21,095,201 (GRCm38) |
Q75L |
probably benign |
Het |
| Dgkg |
A |
T |
16: 22,500,379 (GRCm38) |
L644Q |
probably damaging |
Het |
| Disp3 |
T |
C |
4: 148,249,825 (GRCm38) |
I1004V |
probably benign |
Het |
| Egf |
T |
A |
3: 129,713,006 (GRCm38) |
I599F |
probably damaging |
Het |
| Epc2 |
A |
G |
2: 49,536,663 (GRCm38) |
T145A |
probably damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,357,677 (GRCm38) |
|
probably benign |
Het |
| Extl3 |
A |
T |
14: 65,075,867 (GRCm38) |
V622E |
probably benign |
Het |
| Fam227a |
C |
T |
15: 79,626,245 (GRCm38) |
V403I |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,262,673 (GRCm38) |
D3571V |
probably benign |
Het |
| Fcho2 |
A |
G |
13: 98,749,850 (GRCm38) |
|
probably null |
Het |
| Fras1 |
A |
G |
5: 96,528,586 (GRCm38) |
N64S |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,055,940 (GRCm38) |
N352S |
possibly damaging |
Het |
| Gabra1 |
T |
C |
11: 42,154,944 (GRCm38) |
N113S |
probably damaging |
Het |
| Glg1 |
T |
C |
8: 111,197,675 (GRCm38) |
Y227C |
probably damaging |
Het |
| Gm5141 |
A |
T |
13: 62,774,270 (GRCm38) |
C362S |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,628,437 (GRCm38) |
T104S |
probably benign |
Het |
| Jph1 |
A |
C |
1: 17,091,652 (GRCm38) |
V262G |
probably benign |
Het |
| Kank1 |
C |
G |
19: 25,410,349 (GRCm38) |
T434R |
probably damaging |
Het |
| Krt75 |
G |
A |
15: 101,573,873 (GRCm38) |
|
probably benign |
Het |
| Lyzl1 |
G |
T |
18: 4,181,192 (GRCm38) |
W77L |
probably null |
Het |
| Nipbl |
T |
G |
15: 8,351,280 (GRCm38) |
N676T |
probably benign |
Het |
| Obscn |
C |
T |
11: 59,080,160 (GRCm38) |
S2300N |
probably damaging |
Het |
| Or9a2 |
T |
G |
6: 41,771,903 (GRCm38) |
Y132S |
probably damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,758,839 (GRCm38) |
M350L |
probably benign |
Het |
| Pecam1 |
T |
C |
11: 106,688,856 (GRCm38) |
D460G |
probably damaging |
Het |
| Pik3c2a |
T |
A |
7: 116,388,065 (GRCm38) |
K540N |
probably benign |
Het |
| Prdm12 |
T |
A |
2: 31,640,193 (GRCm38) |
I32N |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,366,352 (GRCm38) |
S679G |
probably damaging |
Het |
| Psen2 |
C |
T |
1: 180,228,854 (GRCm38) |
A393T |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,580,889 (GRCm38) |
T235S |
probably benign |
Het |
| Ranbp3 |
C |
T |
17: 56,705,527 (GRCm38) |
P182L |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,451,660 (GRCm38) |
K266* |
probably null |
Het |
| Sesn3 |
T |
C |
9: 14,308,521 (GRCm38) |
S69P |
probably damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,354,190 (GRCm38) |
M818T |
probably damaging |
Het |
| Slc25a53 |
C |
A |
X: 137,015,335 (GRCm38) |
C4F |
unknown |
Het |
| Snx1 |
T |
A |
9: 66,096,597 (GRCm38) |
L255F |
probably benign |
Het |
| Sptbn2 |
T |
G |
19: 4,718,976 (GRCm38) |
S46A |
possibly damaging |
Het |
| Taf4 |
A |
G |
2: 179,933,027 (GRCm38) |
F595S |
probably damaging |
Het |
| Tec |
A |
T |
5: 72,786,755 (GRCm38) |
V103E |
probably damaging |
Het |
| Tmco5b |
T |
C |
2: 113,290,791 (GRCm38) |
S147P |
possibly damaging |
Het |
| Uchl5 |
C |
T |
1: 143,799,937 (GRCm38) |
T93I |
possibly damaging |
Het |
| Usp14 |
A |
T |
18: 10,004,994 (GRCm38) |
S225T |
probably benign |
Het |
| Usp45 |
C |
A |
4: 21,797,385 (GRCm38) |
Q238K |
possibly damaging |
Het |
| Vmn1r6 |
T |
A |
6: 57,003,073 (GRCm38) |
M218K |
possibly damaging |
Het |
| Zfp84 |
T |
A |
7: 29,777,303 (GRCm38) |
Y473* |
probably null |
Het |
| Zyg11b |
G |
A |
4: 108,266,213 (GRCm38) |
P186S |
probably damaging |
Het |
|
| Other mutations in Kmt2e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00783:Kmt2e
|
APN |
5 |
23,492,358 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01330:Kmt2e
|
APN |
5 |
23,497,948 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01457:Kmt2e
|
APN |
5 |
23,502,019 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
IGL01691:Kmt2e
|
APN |
5 |
23,497,091 (GRCm38) |
missense |
probably benign |
|
|
IGL02274:Kmt2e
|
APN |
5 |
23,500,760 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02934:Kmt2e
|
APN |
5 |
23,497,884 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02964:Kmt2e
|
APN |
5 |
23,467,100 (GRCm38) |
splice site |
probably benign |
|
|
IGL03011:Kmt2e
|
APN |
5 |
23,497,542 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03291:Kmt2e
|
APN |
5 |
23,499,291 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0035:Kmt2e
|
UTSW |
5 |
23,485,621 (GRCm38) |
splice site |
probably benign |
|
|
R0446:Kmt2e
|
UTSW |
5 |
23,497,534 (GRCm38) |
splice site |
probably null |
|
|
R0498:Kmt2e
|
UTSW |
5 |
23,478,972 (GRCm38) |
nonsense |
probably null |
|
|
R0699:Kmt2e
|
UTSW |
5 |
23,473,583 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0701:Kmt2e
|
UTSW |
5 |
23,473,583 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0761:Kmt2e
|
UTSW |
5 |
23,503,034 (GRCm38) |
nonsense |
probably null |
|
|
R1110:Kmt2e
|
UTSW |
5 |
23,502,655 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1295:Kmt2e
|
UTSW |
5 |
23,502,404 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1432:Kmt2e
|
UTSW |
5 |
23,450,321 (GRCm38) |
missense |
probably benign |
0.39 |
|
R1505:Kmt2e
|
UTSW |
5 |
23,500,535 (GRCm38) |
missense |
probably null |
0.01 |
|
R1623:Kmt2e
|
UTSW |
5 |
23,482,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1675:Kmt2e
|
UTSW |
5 |
23,482,453 (GRCm38) |
nonsense |
probably null |
|
|
R1691:Kmt2e
|
UTSW |
5 |
23,464,849 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1778:Kmt2e
|
UTSW |
5 |
23,492,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1820:Kmt2e
|
UTSW |
5 |
23,473,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1846:Kmt2e
|
UTSW |
5 |
23,499,486 (GRCm38) |
intron |
probably benign |
|
|
R1912:Kmt2e
|
UTSW |
5 |
23,492,395 (GRCm38) |
missense |
probably benign |
0.07 |
|
R2070:Kmt2e
|
UTSW |
5 |
23,501,995 (GRCm38) |
missense |
probably benign |
|
|
R2195:Kmt2e
|
UTSW |
5 |
23,502,196 (GRCm38) |
splice site |
probably null |
|
|
R2571:Kmt2e
|
UTSW |
5 |
23,501,887 (GRCm38) |
missense |
probably benign |
0.08 |
|
R3901:Kmt2e
|
UTSW |
5 |
23,501,642 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3902:Kmt2e
|
UTSW |
5 |
23,501,642 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3905:Kmt2e
|
UTSW |
5 |
23,501,626 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3906:Kmt2e
|
UTSW |
5 |
23,501,626 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3909:Kmt2e
|
UTSW |
5 |
23,501,626 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3956:Kmt2e
|
UTSW |
5 |
23,496,025 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4242:Kmt2e
|
UTSW |
5 |
23,502,822 (GRCm38) |
unclassified |
probably benign |
|
|
R4299:Kmt2e
|
UTSW |
5 |
23,464,914 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4448:Kmt2e
|
UTSW |
5 |
23,464,790 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4528:Kmt2e
|
UTSW |
5 |
23,473,558 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4574:Kmt2e
|
UTSW |
5 |
23,492,407 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R4719:Kmt2e
|
UTSW |
5 |
23,492,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4754:Kmt2e
|
UTSW |
5 |
23,482,441 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4787:Kmt2e
|
UTSW |
5 |
23,463,083 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R4812:Kmt2e
|
UTSW |
5 |
23,502,587 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4853:Kmt2e
|
UTSW |
5 |
23,502,341 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5138:Kmt2e
|
UTSW |
5 |
23,502,695 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5306:Kmt2e
|
UTSW |
5 |
23,499,333 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5659:Kmt2e
|
UTSW |
5 |
23,497,807 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5907:Kmt2e
|
UTSW |
5 |
23,464,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5920:Kmt2e
|
UTSW |
5 |
23,499,442 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6280:Kmt2e
|
UTSW |
5 |
23,499,516 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R6353:Kmt2e
|
UTSW |
5 |
23,493,245 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6375:Kmt2e
|
UTSW |
5 |
23,499,519 (GRCm38) |
missense |
probably benign |
|
|
R6553:Kmt2e
|
UTSW |
5 |
23,463,026 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6572:Kmt2e
|
UTSW |
5 |
23,497,581 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R6678:Kmt2e
|
UTSW |
5 |
23,499,295 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R6791:Kmt2e
|
UTSW |
5 |
23,499,476 (GRCm38) |
intron |
probably benign |
|
|
R6792:Kmt2e
|
UTSW |
5 |
23,499,476 (GRCm38) |
intron |
probably benign |
|
|
R6794:Kmt2e
|
UTSW |
5 |
23,499,476 (GRCm38) |
intron |
probably benign |
|
|
R6797:Kmt2e
|
UTSW |
5 |
23,482,507 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6947:Kmt2e
|
UTSW |
5 |
23,497,545 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7023:Kmt2e
|
UTSW |
5 |
23,500,487 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R7036:Kmt2e
|
UTSW |
5 |
23,478,743 (GRCm38) |
missense |
probably null |
1.00 |
|
R7173:Kmt2e
|
UTSW |
5 |
23,464,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7202:Kmt2e
|
UTSW |
5 |
23,492,294 (GRCm38) |
unclassified |
probably benign |
|
|
R7563:Kmt2e
|
UTSW |
5 |
23,500,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7571:Kmt2e
|
UTSW |
5 |
23,478,587 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7604:Kmt2e
|
UTSW |
5 |
23,501,765 (GRCm38) |
missense |
not run |
|
|
R7722:Kmt2e
|
UTSW |
5 |
23,497,018 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7758:Kmt2e
|
UTSW |
5 |
23,496,070 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7794:Kmt2e
|
UTSW |
5 |
23,464,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8137:Kmt2e
|
UTSW |
5 |
23,501,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8341:Kmt2e
|
UTSW |
5 |
23,499,453 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8383:Kmt2e
|
UTSW |
5 |
23,485,541 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8400:Kmt2e
|
UTSW |
5 |
23,497,092 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8546:Kmt2e
|
UTSW |
5 |
23,481,244 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8750:Kmt2e
|
UTSW |
5 |
23,493,217 (GRCm38) |
missense |
probably benign |
|
|
R8786:Kmt2e
|
UTSW |
5 |
23,464,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9211:Kmt2e
|
UTSW |
5 |
23,464,772 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R9660:Kmt2e
|
UTSW |
5 |
23,478,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9786:Kmt2e
|
UTSW |
5 |
23,497,984 (GRCm38) |
missense |
probably benign |
0.16 |
|
RF026:Kmt2e
|
UTSW |
5 |
23,478,509 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
RF028:Kmt2e
|
UTSW |
5 |
23,478,509 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
RF040:Kmt2e
|
UTSW |
5 |
23,478,509 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
RF042:Kmt2e
|
UTSW |
5 |
23,478,509 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
Z1177:Kmt2e
|
UTSW |
5 |
23,481,208 (GRCm38) |
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