Incidental Mutation 'R0699:Kmt2e'
| ID |
218743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt2e
|
| Ensembl Gene |
ENSMUSG00000029004 |
| Gene Name |
lysine (K)-specific methyltransferase 2E |
| Synonyms |
9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5 |
| MMRRC Submission |
038883-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0699 (G1)
|
| Quality Score |
27 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
23639439-23709233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23678581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 220
(V220A)
|
| 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: V220A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: V220A
| 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: V220A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: V220A
| 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: V220A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142568
Gene: ENSMUSG00000029004
AA Change: V220A
| 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
|
| Meta Mutation Damage Score |
0.0862 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
98% (120/123) |
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,538,508 (GRCm39) |
|
probably benign |
Het |
| Abcb6 |
C |
T |
1: 75,148,553 (GRCm39) |
E89K |
probably damaging |
Het |
| Adam25 |
C |
A |
8: 41,209,011 (GRCm39) |
T759K |
probably benign |
Het |
| Adgrf5 |
G |
A |
17: 43,733,552 (GRCm39) |
|
probably null |
Het |
| Aimp1 |
A |
T |
3: 132,380,626 (GRCm39) |
|
probably benign |
Het |
| Aldh3a2 |
C |
T |
11: 61,153,148 (GRCm39) |
V193I |
probably benign |
Het |
| Ank2 |
C |
T |
3: 126,723,478 (GRCm39) |
V950I |
probably benign |
Het |
| Aspn |
A |
G |
13: 49,705,258 (GRCm39) |
D40G |
possibly damaging |
Het |
| C1rl |
A |
G |
6: 124,485,595 (GRCm39) |
D322G |
probably benign |
Het |
| Car5a |
T |
C |
8: 122,671,555 (GRCm39) |
|
probably benign |
Het |
| Cfap107 |
G |
T |
4: 144,146,322 (GRCm39) |
N110K |
probably damaging |
Het |
| Cfap157 |
T |
A |
2: 32,669,022 (GRCm39) |
K360N |
probably damaging |
Het |
| Cilp |
T |
A |
9: 65,177,608 (GRCm39) |
F117Y |
probably damaging |
Het |
| Cntnap5c |
T |
G |
17: 58,349,493 (GRCm39) |
W269G |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,552,114 (GRCm39) |
V459A |
unknown |
Het |
| Commd3 |
A |
G |
2: 18,679,786 (GRCm39) |
E165G |
possibly damaging |
Het |
| Cops3 |
A |
C |
11: 59,717,148 (GRCm39) |
Y244D |
probably damaging |
Het |
| Cpne5 |
T |
A |
17: 29,428,667 (GRCm39) |
K108N |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,651,411 (GRCm39) |
D1152G |
possibly damaging |
Het |
| Ddx41 |
A |
G |
13: 55,679,112 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,301,113 (GRCm39) |
Y157H |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,962,176 (GRCm39) |
L405F |
probably benign |
Het |
| Dync2h1 |
G |
T |
9: 7,103,680 (GRCm39) |
A365E |
probably benign |
Het |
| Dysf |
C |
T |
6: 84,167,828 (GRCm39) |
R1757W |
probably benign |
Het |
| Eif1ad |
T |
A |
19: 5,418,726 (GRCm39) |
V93D |
possibly damaging |
Het |
| Eif2ak3 |
T |
C |
6: 70,869,514 (GRCm39) |
F734L |
probably benign |
Het |
| F8 |
T |
C |
X: 74,423,230 (GRCm39) |
|
probably benign |
Het |
| Fbxl14 |
T |
C |
6: 119,457,715 (GRCm39) |
Y299H |
probably benign |
Het |
| Fmo1 |
T |
C |
1: 162,661,341 (GRCm39) |
N314S |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,388,446 (GRCm39) |
T762A |
probably benign |
Het |
| Gfra1 |
A |
C |
19: 58,258,555 (GRCm39) |
S271A |
probably benign |
Het |
| Gm9932 |
T |
C |
5: 100,346,931 (GRCm39) |
V43A |
probably damaging |
Het |
| Herc6 |
T |
C |
6: 57,558,092 (GRCm39) |
L24P |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,695,161 (GRCm39) |
T248A |
probably damaging |
Het |
| Hook1 |
T |
A |
4: 95,884,077 (GRCm39) |
|
probably benign |
Het |
| Ifne |
T |
C |
4: 88,798,014 (GRCm39) |
S135G |
probably benign |
Het |
| Igkv13-84 |
G |
A |
6: 68,916,635 (GRCm39) |
|
probably benign |
Het |
| Itm2b |
T |
A |
14: 73,602,065 (GRCm39) |
N211I |
probably damaging |
Het |
| Kcnh5 |
A |
T |
12: 75,023,305 (GRCm39) |
C588S |
possibly damaging |
Het |
| Kif13a |
A |
T |
13: 46,952,689 (GRCm39) |
W699R |
possibly damaging |
Het |
| Macrod2 |
T |
C |
2: 140,260,836 (GRCm39) |
|
probably null |
Het |
| Map3k6 |
A |
G |
4: 132,975,437 (GRCm39) |
E724G |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,619,953 (GRCm39) |
L14P |
possibly damaging |
Het |
| Morc1 |
T |
A |
16: 48,412,977 (GRCm39) |
M706K |
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,306,037 (GRCm39) |
V242A |
probably damaging |
Het |
| Mx2 |
T |
A |
16: 97,345,753 (GRCm39) |
V57E |
probably damaging |
Het |
| Myh14 |
C |
A |
7: 44,274,395 (GRCm39) |
A1339S |
possibly damaging |
Het |
| Myom1 |
G |
T |
17: 71,374,308 (GRCm39) |
S595I |
probably damaging |
Het |
| Nav1 |
T |
A |
1: 135,380,687 (GRCm39) |
M1471L |
probably benign |
Het |
| Ncapd2 |
A |
C |
6: 125,146,843 (GRCm39) |
S1248A |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,147,528 (GRCm39) |
V125A |
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,106,176 (GRCm39) |
|
probably benign |
Het |
| Nobox |
T |
A |
6: 43,284,144 (GRCm39) |
Q134L |
probably benign |
Het |
| Npc1 |
T |
C |
18: 12,343,632 (GRCm39) |
T454A |
probably benign |
Het |
| Ntng1 |
G |
T |
3: 109,779,611 (GRCm39) |
T322K |
probably damaging |
Het |
| Olfm5 |
T |
C |
7: 103,803,326 (GRCm39) |
E379G |
probably damaging |
Het |
| Oma1 |
T |
C |
4: 103,210,792 (GRCm39) |
S433P |
probably damaging |
Het |
| Or1ad6 |
T |
C |
11: 50,860,645 (GRCm39) |
S267P |
probably damaging |
Het |
| Or1b1 |
T |
C |
2: 36,995,074 (GRCm39) |
D196G |
possibly damaging |
Het |
| Or4c105 |
A |
T |
2: 88,647,568 (GRCm39) |
N18Y |
probably damaging |
Het |
| Or4c107 |
C |
T |
2: 88,788,960 (GRCm39) |
T50I |
probably benign |
Het |
| Or4c113 |
C |
T |
2: 88,885,636 (GRCm39) |
V45M |
possibly damaging |
Het |
| Parp14 |
G |
A |
16: 35,680,955 (GRCm39) |
T226M |
probably damaging |
Het |
| Parp8 |
A |
T |
13: 117,059,120 (GRCm39) |
H168Q |
probably benign |
Het |
| Pik3cg |
G |
A |
12: 32,247,341 (GRCm39) |
|
probably benign |
Het |
| Pla2g3 |
T |
C |
11: 3,442,000 (GRCm39) |
F388S |
probably damaging |
Het |
| Plaat3 |
T |
A |
19: 7,535,366 (GRCm39) |
|
probably null |
Het |
| Pllp |
T |
C |
8: 95,422,660 (GRCm39) |
|
probably null |
Het |
| Ppfibp1 |
T |
A |
6: 146,927,720 (GRCm39) |
V778E |
probably damaging |
Het |
| Prkci |
T |
C |
3: 31,104,422 (GRCm39) |
V595A |
possibly damaging |
Het |
| Prune2 |
T |
A |
19: 17,101,319 (GRCm39) |
D2274E |
probably damaging |
Het |
| Rad51ap2 |
A |
T |
12: 11,507,601 (GRCm39) |
T508S |
probably benign |
Het |
| Ranbp3l |
T |
C |
15: 9,058,850 (GRCm39) |
|
probably null |
Het |
| Rfc1 |
A |
C |
5: 65,476,742 (GRCm39) |
|
probably null |
Het |
| Rin3 |
G |
A |
12: 102,335,834 (GRCm39) |
V502I |
probably damaging |
Het |
| Rtn4rl1 |
A |
T |
11: 75,156,048 (GRCm39) |
H160L |
possibly damaging |
Het |
| Rtn4rl1 |
A |
T |
11: 75,156,050 (GRCm39) |
I161F |
probably benign |
Het |
| Serpinb9b |
A |
T |
13: 33,217,549 (GRCm39) |
M116L |
probably benign |
Het |
| Sgo2a |
C |
T |
1: 58,037,308 (GRCm39) |
R18* |
probably null |
Het |
| Sh3gl2 |
T |
A |
4: 85,265,408 (GRCm39) |
D31E |
probably benign |
Het |
| Slc38a9 |
T |
C |
13: 112,859,823 (GRCm39) |
L419S |
probably damaging |
Het |
| Sp8 |
AGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGG |
12: 118,812,555 (GRCm39) |
|
probably benign |
Het |
| Spen |
G |
T |
4: 141,201,702 (GRCm39) |
N2308K |
possibly damaging |
Het |
| Stac2 |
A |
G |
11: 97,933,611 (GRCm39) |
I156T |
possibly damaging |
Het |
| Stambp |
A |
G |
6: 83,533,303 (GRCm39) |
F320S |
probably damaging |
Het |
| Tas2r117 |
A |
T |
6: 132,780,161 (GRCm39) |
N100Y |
probably damaging |
Het |
| Tigd3 |
A |
T |
19: 5,941,974 (GRCm39) |
S385R |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,097,152 (GRCm39) |
D136G |
possibly damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tnrc6c |
A |
G |
11: 117,613,447 (GRCm39) |
Q535R |
probably benign |
Het |
| Trmt2a |
T |
C |
16: 18,067,393 (GRCm39) |
V22A |
probably benign |
Het |
| Tut7 |
G |
A |
13: 59,929,828 (GRCm39) |
|
probably benign |
Het |
| Wipf3 |
A |
C |
6: 54,460,817 (GRCm39) |
K88N |
probably damaging |
Het |
| Zfp974 |
T |
C |
7: 27,611,416 (GRCm39) |
E103G |
possibly damaging |
Het |
| Zscan10 |
C |
T |
17: 23,827,092 (GRCm39) |
T135I |
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 |
|
|
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 |
|
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'- AACAAGGAAGTAATCCTTTGTCAGGTGG -3'
(R):5'- GCAGTGAGCAATGTCTCCTGTAGTC -3'
Sequencing Primer
(F):5'- gcactgtctgctctccc -3'
(R):5'- GTAGTCCATGCCTGTCTTTAAATG -3'
|
| Posted On |
2014-08-20 |
Incidental Mutation