Incidental Mutation 'R8750:Kmt2e'
| ID |
663759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt2e
|
| Ensembl Gene |
ENSMUSG00000029004 |
| Gene Name |
lysine (K)-specific methyltransferase 2E |
| Synonyms |
9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5 |
| MMRRC Submission |
068593-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8750 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
23639439-23709233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23698215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 636
(T636A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094962]
[ENSMUST00000115128]
[ENSMUST00000126586]
[ENSMUST00000146375]
[ENSMUST00000196260]
|
| AlphaFold |
Q3UG20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094962
AA Change: T636A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: T636A
| 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: T636A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: T636A
| 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
AA Change: T11A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: ENSMUST00000196260
AA Change: T116A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000143791
Gene: ENSMUSG00000029004
AA Change: T116A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
G |
A |
12: 81,607,247 (GRCm39) |
Q172* |
probably null |
Het |
| Ankib1 |
A |
G |
5: 3,752,890 (GRCm39) |
|
probably null |
Het |
| Avpr1b |
C |
T |
1: 131,527,674 (GRCm39) |
R66C |
probably damaging |
Het |
| Bbs7 |
A |
T |
3: 36,661,744 (GRCm39) |
C152S |
possibly damaging |
Het |
| Cacna1a |
C |
A |
8: 85,285,784 (GRCm39) |
R810S |
probably damaging |
Het |
| Ccdc17 |
G |
A |
4: 116,457,129 (GRCm39) |
A538T |
possibly damaging |
Het |
| Cd93 |
T |
C |
2: 148,285,080 (GRCm39) |
M89V |
probably benign |
Het |
| Clec11a |
G |
T |
7: 43,955,323 (GRCm39) |
D157E |
probably benign |
Het |
| Crtam |
A |
C |
9: 40,895,641 (GRCm39) |
D228E |
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,209 (GRCm39) |
I331V |
probably benign |
Het |
| Cysltr2 |
T |
C |
14: 73,267,078 (GRCm39) |
I211V |
probably benign |
Het |
| Dcaf13 |
T |
C |
15: 38,982,836 (GRCm39) |
S123P |
probably damaging |
Het |
| Dctn1 |
T |
G |
6: 83,160,108 (GRCm39) |
V116G |
possibly damaging |
Het |
| Dmrt3 |
G |
A |
19: 25,588,550 (GRCm39) |
A130T |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,026,924 (GRCm39) |
L700Q |
probably benign |
Het |
| Dnajc1 |
T |
C |
2: 18,313,645 (GRCm39) |
T159A |
probably damaging |
Het |
| Dpyd |
C |
T |
3: 118,935,585 (GRCm39) |
S670L |
probably damaging |
Het |
| Dsg2 |
A |
T |
18: 20,708,069 (GRCm39) |
I57F |
possibly damaging |
Het |
| Dzip3 |
A |
C |
16: 48,801,338 (GRCm39) |
I62S |
probably damaging |
Het |
| Ern1 |
A |
T |
11: 106,312,776 (GRCm39) |
S202T |
probably damaging |
Het |
| Foxm1 |
T |
A |
6: 128,350,206 (GRCm39) |
C517* |
probably null |
Het |
| Galnt16 |
G |
A |
12: 80,644,879 (GRCm39) |
V501I |
probably benign |
Het |
| Gmip |
A |
T |
8: 70,273,134 (GRCm39) |
R840S |
probably benign |
Het |
| Gna14 |
A |
C |
19: 16,585,458 (GRCm39) |
I279L |
|
Het |
| Irak2 |
T |
C |
6: 113,663,783 (GRCm39) |
M444T |
probably benign |
Het |
| Itfg2 |
T |
C |
6: 128,389,755 (GRCm39) |
|
probably null |
Het |
| Kif5a |
T |
A |
10: 127,083,909 (GRCm39) |
H94L |
probably damaging |
Het |
| Krba1 |
T |
C |
6: 48,382,212 (GRCm39) |
S152P |
probably damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,300,822 (GRCm39) |
M25L |
probably benign |
Het |
| Map7d1 |
T |
C |
4: 126,132,315 (GRCm39) |
N286D |
probably benign |
Het |
| Mfrp |
A |
G |
9: 44,014,802 (GRCm39) |
K280E |
probably benign |
Het |
| Mlh3 |
G |
T |
12: 85,308,488 (GRCm39) |
L1100I |
probably damaging |
Het |
| Mrgprx2 |
T |
C |
7: 48,131,778 (GRCm39) |
I347V |
probably benign |
Het |
| Mtnr1b |
A |
T |
9: 15,785,724 (GRCm39) |
C11* |
probably null |
Het |
| Mx1 |
T |
C |
16: 97,252,917 (GRCm39) |
E401G |
probably damaging |
Het |
| Mypn |
T |
C |
10: 63,003,036 (GRCm39) |
D367G |
probably benign |
Het |
| Nherf2 |
T |
C |
17: 24,861,233 (GRCm39) |
I176V |
probably damaging |
Het |
| Or52a33 |
T |
A |
7: 103,289,059 (GRCm39) |
D96V |
probably damaging |
Het |
| Or6c5b |
T |
C |
10: 129,245,649 (GRCm39) |
V138A |
probably benign |
Het |
| Or8s8 |
T |
G |
15: 98,354,929 (GRCm39) |
I246R |
probably damaging |
Het |
| Or9g19 |
T |
A |
2: 85,600,307 (GRCm39) |
L54H |
probably damaging |
Het |
| Plcb1 |
T |
G |
2: 135,177,369 (GRCm39) |
M567R |
probably damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,752,861 (GRCm39) |
D109V |
probably damaging |
Het |
| Polr2e |
A |
G |
10: 79,875,424 (GRCm39) |
I17T |
probably benign |
Het |
| Pot1b |
T |
C |
17: 55,973,537 (GRCm39) |
D421G |
probably benign |
Het |
| Prkar1b |
A |
T |
5: 139,036,451 (GRCm39) |
W224R |
probably damaging |
Het |
| Psmd1 |
C |
A |
1: 86,016,585 (GRCm39) |
R490S |
probably damaging |
Het |
| Pwp2 |
A |
G |
10: 78,013,659 (GRCm39) |
W521R |
probably damaging |
Het |
| Rhpn2 |
C |
A |
7: 35,075,680 (GRCm39) |
Q286K |
probably benign |
Het |
| Rnf103 |
T |
A |
6: 71,486,602 (GRCm39) |
M411K |
probably benign |
Het |
| Scpep1 |
A |
C |
11: 88,835,298 (GRCm39) |
V125G |
probably damaging |
Het |
| Serpinb9c |
C |
T |
13: 33,335,793 (GRCm39) |
V248M |
probably null |
Het |
| Snx15 |
T |
A |
19: 6,170,593 (GRCm39) |
N282I |
probably benign |
Het |
| Spaca3 |
A |
T |
11: 80,758,514 (GRCm39) |
D159V |
probably benign |
Het |
| Srrm4 |
A |
G |
5: 116,605,567 (GRCm39) |
V230A |
unknown |
Het |
| Ssu2 |
T |
A |
6: 112,359,312 (GRCm39) |
I103F |
possibly damaging |
Het |
| Strip2 |
T |
A |
6: 29,931,815 (GRCm39) |
F453I |
probably damaging |
Het |
| Tac2 |
C |
T |
10: 127,564,319 (GRCm39) |
P72L |
possibly damaging |
Het |
| Tiparp |
T |
G |
3: 65,460,125 (GRCm39) |
S473R |
probably damaging |
Het |
| Tmem135 |
C |
T |
7: 88,956,456 (GRCm39) |
R53Q |
probably damaging |
Het |
| Tmem200b |
T |
A |
4: 131,649,406 (GRCm39) |
F109I |
probably damaging |
Het |
| Tmem245 |
A |
T |
4: 56,886,141 (GRCm39) |
I825N |
probably damaging |
Het |
| Tmem63c |
G |
T |
12: 87,103,306 (GRCm39) |
V27F |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,033,162 (GRCm39) |
I415M |
probably damaging |
Het |
| Tut4 |
C |
G |
4: 108,407,940 (GRCm39) |
A1403G |
probably damaging |
Het |
| Wfdc2 |
T |
A |
2: 164,407,818 (GRCm39) |
N162K |
probably damaging |
Het |
| Zeb2 |
T |
A |
2: 44,887,939 (GRCm39) |
I373F |
probably damaging |
Het |
| Zfp27 |
T |
C |
7: 29,594,804 (GRCm39) |
N387S |
possibly damaging |
Het |
| Zfp760 |
A |
T |
17: 21,941,356 (GRCm39) |
H177L |
possibly damaging |
Het |
| Zg16 |
A |
G |
7: 126,649,518 (GRCm39) |
S148P |
possibly damaging |
Het |
| Zic2 |
A |
G |
14: 122,714,129 (GRCm39) |
N348D |
probably benign |
Het |
| Zswim4 |
A |
T |
8: 84,939,313 (GRCm39) |
D856E |
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 |
|
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 |
|
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'- CACACGTGAAAACATACTTTCTGG -3'
(R):5'- GCTACTGCAGTTTCAGTTTCTG -3'
Sequencing Primer
(F):5'- CAAGCTGTCTTCAAATTCAGAGCTC -3'
(R):5'- CAGTTTCTGGTTCTATAGCAAGTAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation