Incidental Mutation 'R5907:Kmt2e'
| ID |
460697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt2e
|
| Ensembl Gene |
ENSMUSG00000029004 |
| Gene Name |
lysine (K)-specific methyltransferase 2E |
| Synonyms |
9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5 |
| MMRRC Submission |
044104-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5907 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
23639439-23709233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 23669704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 64
(H64N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094962]
[ENSMUST00000115128]
[ENSMUST00000196889]
|
| AlphaFold |
Q3UG20 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094962
AA Change: H64N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: H64N
| 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: H64N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: H64N
| 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: ENSMUST00000196889
AA Change: H64N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142568
Gene: ENSMUSG00000029004
AA Change: H64N
| 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 |
|
| Meta Mutation Damage Score |
0.2326 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
93% (92/99) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
T |
9: 46,218,120 (GRCm39) |
I206N |
probably damaging |
Het |
| Aadac |
T |
A |
3: 59,947,248 (GRCm39) |
D315E |
probably damaging |
Het |
| Abcc8 |
A |
G |
7: 45,773,330 (GRCm39) |
F800L |
probably benign |
Het |
| Adamts16 |
C |
A |
13: 70,877,029 (GRCm39) |
C1204F |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,038,856 (GRCm39) |
T291A |
possibly damaging |
Het |
| AI182371 |
G |
T |
2: 34,976,134 (GRCm39) |
Q255K |
possibly damaging |
Het |
| Aig1 |
A |
T |
10: 13,677,528 (GRCm39) |
|
probably benign |
Het |
| Ak5 |
T |
C |
3: 152,321,589 (GRCm39) |
D266G |
probably damaging |
Het |
| Ank1 |
A |
T |
8: 23,630,220 (GRCm39) |
E93D |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,340,117 (GRCm39) |
D153G |
probably damaging |
Het |
| Bub1 |
G |
T |
2: 127,661,142 (GRCm39) |
N316K |
probably benign |
Het |
| Capn1 |
T |
C |
19: 6,047,827 (GRCm39) |
N412S |
probably benign |
Het |
| Cdca4 |
A |
G |
12: 112,785,339 (GRCm39) |
S130P |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,264,158 (GRCm39) |
D663E |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,455,403 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
C |
T |
4: 128,091,178 (GRCm39) |
P239L |
probably damaging |
Het |
| Dlg2 |
A |
T |
7: 91,646,579 (GRCm39) |
|
probably benign |
Het |
| Dnpep |
C |
T |
1: 75,288,635 (GRCm39) |
|
probably null |
Het |
| Dop1b |
A |
T |
16: 93,598,469 (GRCm39) |
H1878L |
probably damaging |
Het |
| Dscam |
C |
T |
16: 96,622,120 (GRCm39) |
D444N |
probably damaging |
Het |
| Emc9 |
C |
T |
14: 55,819,569 (GRCm39) |
|
probably null |
Het |
| Ero1b |
T |
A |
13: 12,615,207 (GRCm39) |
I346N |
probably damaging |
Het |
| Etv3 |
A |
G |
3: 87,442,850 (GRCm39) |
T145A |
probably benign |
Het |
| Fam170a |
T |
A |
18: 50,415,321 (GRCm39) |
|
probably null |
Het |
| Fap |
A |
T |
2: 62,374,700 (GRCm39) |
I261N |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,178,409 (GRCm39) |
N1943S |
probably damaging |
Het |
| Glb1l3 |
A |
T |
9: 26,737,679 (GRCm39) |
V466E |
probably damaging |
Het |
| Gm10521 |
A |
T |
1: 171,724,070 (GRCm39) |
H127L |
unknown |
Het |
| Gm8186 |
G |
T |
17: 26,318,130 (GRCm39) |
N22K |
probably damaging |
Het |
| Gpr132 |
A |
C |
12: 112,815,717 (GRCm39) |
L370V |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,845,537 (GRCm39) |
H449Q |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,534,306 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,311,345 (GRCm39) |
D1180G |
probably benign |
Het |
| Isoc2b |
A |
T |
7: 4,852,577 (GRCm39) |
|
probably null |
Het |
| Itga4 |
C |
T |
2: 79,153,000 (GRCm39) |
H896Y |
probably benign |
Het |
| Itga7 |
T |
C |
10: 128,778,850 (GRCm39) |
Y326H |
probably damaging |
Het |
| Itpr3 |
A |
T |
17: 27,336,867 (GRCm39) |
E2397V |
probably damaging |
Het |
| Jtb |
T |
G |
3: 90,142,884 (GRCm39) |
|
probably null |
Het |
| Klk15 |
A |
G |
7: 43,588,183 (GRCm39) |
T164A |
probably benign |
Het |
| Lamtor3 |
T |
A |
3: 137,633,054 (GRCm39) |
|
probably benign |
Het |
| Laptm4b |
A |
G |
15: 34,258,830 (GRCm39) |
I35V |
possibly damaging |
Het |
| Lrrc1 |
A |
C |
9: 77,341,379 (GRCm39) |
L393R |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,178,391 (GRCm39) |
S1613P |
possibly damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,502,876 (GRCm39) |
W920R |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,267,950 (GRCm39) |
|
probably benign |
Het |
| Nup133 |
A |
G |
8: 124,643,038 (GRCm39) |
Y761H |
possibly damaging |
Het |
| Nwd2 |
T |
A |
5: 63,963,326 (GRCm39) |
V970D |
probably damaging |
Het |
| Or4c126 |
A |
G |
2: 89,824,301 (GRCm39) |
H188R |
probably benign |
Het |
| Or6n1 |
T |
C |
1: 173,916,785 (GRCm39) |
Y60H |
probably benign |
Het |
| Or8k24 |
A |
T |
2: 86,216,218 (GRCm39) |
S181R |
probably damaging |
Het |
| Osbp |
C |
T |
19: 11,951,240 (GRCm39) |
L262F |
probably damaging |
Het |
| Phf8-ps |
G |
T |
17: 33,285,124 (GRCm39) |
D559E |
probably benign |
Het |
| Phldb2 |
G |
T |
16: 45,645,551 (GRCm39) |
D343E |
probably damaging |
Het |
| Phrf1 |
T |
A |
7: 140,840,453 (GRCm39) |
M1216K |
possibly damaging |
Het |
| Phyh |
A |
T |
2: 4,935,462 (GRCm39) |
|
probably null |
Het |
| Plekhf1 |
A |
T |
7: 37,921,594 (GRCm39) |
|
probably null |
Het |
| Rars1 |
T |
C |
11: 35,719,475 (GRCm39) |
N116D |
probably damaging |
Het |
| Rnf44 |
T |
A |
13: 54,830,621 (GRCm39) |
Q181L |
possibly damaging |
Het |
| Rpe65 |
T |
C |
3: 159,321,319 (GRCm39) |
|
probably null |
Het |
| Scaf1 |
A |
G |
7: 44,663,016 (GRCm39) |
|
probably benign |
Het |
| Serpinb11 |
A |
T |
1: 107,299,919 (GRCm39) |
R88S |
probably benign |
Het |
| Slc7a7 |
T |
C |
14: 54,616,560 (GRCm39) |
N174S |
probably damaging |
Het |
| Slc9a5 |
T |
C |
8: 106,083,807 (GRCm39) |
|
probably null |
Het |
| Slfn1 |
C |
A |
11: 83,012,002 (GRCm39) |
N39K |
possibly damaging |
Het |
| Snx20 |
G |
A |
8: 89,353,923 (GRCm39) |
A269V |
possibly damaging |
Het |
| Snx6 |
A |
G |
12: 54,801,104 (GRCm39) |
Y298H |
probably damaging |
Het |
| Stk32c |
C |
T |
7: 138,700,590 (GRCm39) |
R213Q |
probably benign |
Het |
| Tgfbr1 |
A |
T |
4: 47,396,555 (GRCm39) |
I190F |
probably damaging |
Het |
| Ube2d2b |
T |
A |
5: 107,978,498 (GRCm39) |
F50I |
probably damaging |
Het |
| Ubl5 |
G |
A |
9: 20,557,830 (GRCm39) |
|
probably benign |
Het |
| Ubqln5 |
T |
G |
7: 103,777,781 (GRCm39) |
T348P |
possibly damaging |
Het |
| Usp46 |
T |
C |
5: 74,197,746 (GRCm39) |
D22G |
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,231,352 (GRCm39) |
N655S |
probably damaging |
Het |
| Vmn2r103 |
A |
C |
17: 20,032,715 (GRCm39) |
I830L |
possibly damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,016,830 (GRCm39) |
N431K |
probably benign |
Het |
| Vmn2r4 |
G |
T |
3: 64,298,487 (GRCm39) |
P547Q |
probably damaging |
Het |
| Yy1 |
T |
A |
12: 108,772,354 (GRCm39) |
|
probably benign |
Het |
| Zbtb2 |
A |
T |
10: 4,318,592 (GRCm39) |
L478Q |
possibly damaging |
Het |
| Zfp12 |
T |
C |
5: 143,225,743 (GRCm39) |
F17S |
probably damaging |
Het |
| Zfp219 |
T |
A |
14: 52,244,606 (GRCm39) |
|
probably null |
Het |
| Zfp629 |
G |
A |
7: 127,209,542 (GRCm39) |
H756Y |
probably damaging |
Het |
| Zfp748 |
T |
C |
13: 67,689,292 (GRCm39) |
K656R |
possibly damaging |
Het |
| Zfp958 |
T |
A |
8: 4,679,072 (GRCm39) |
Y366N |
probably benign |
Het |
| Zp3 |
C |
T |
5: 136,017,377 (GRCm39) |
T396I |
probably benign |
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 |
|
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'- GTGACTTTCATCTACTAGACAGTGAC -3'
(R):5'- ATCCGTCATCATGTGTAAAACCAC -3'
Sequencing Primer
(F):5'- AGTGACATTAACTTATTACCACTGTG -3'
(R):5'- CATATGCACCTGGTTACATCAGTAC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation