Incidental Mutation 'R6706:Kansl3'
| ID |
528927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kansl3
|
| Ensembl Gene |
ENSMUSG00000010453 |
| Gene Name |
KAT8 regulatory NSL complex subunit 3 |
| Synonyms |
4632411B12Rik |
| MMRRC Submission |
044824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R6706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
36374811-36408262 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 36383995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010597]
[ENSMUST00000185912]
[ENSMUST00000186470]
[ENSMUST00000188961]
|
| AlphaFold |
A2RSY1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000010597
|
| SMART Domains |
Protein: ENSMUSP00000010597
Gene: ENSMUSG00000010453
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
285 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_5
|
288 |
436 |
2e-9 |
PFAM |
|
low complexity region
|
523 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
732 |
N/A |
INTRINSIC |
|
low complexity region
|
735 |
751 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184898
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000185912
|
| SMART Domains |
Protein: ENSMUSP00000140547
Gene: ENSMUSG00000010453
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
186 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_5
|
189 |
337 |
9.3e-8 |
PFAM |
|
low complexity region
|
424 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
598 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
652 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186470
|
| SMART Domains |
Protein: ENSMUSP00000140597
Gene: ENSMUSG00000010453
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
285 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_5
|
288 |
436 |
2.2e-9 |
PFAM |
|
low complexity region
|
523 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
723 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
777 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188961
|
| Meta Mutation Damage Score |
0.9591 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
A |
8: 44,104,479 (GRCm39) |
K389* |
probably null |
Het |
| Adam6a |
T |
G |
12: 113,508,886 (GRCm39) |
F420V |
probably benign |
Het |
| Alpl |
T |
C |
4: 137,473,740 (GRCm39) |
T321A |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,586,666 (GRCm39) |
D152G |
probably damaging |
Het |
| B4galt4 |
A |
G |
16: 38,578,173 (GRCm39) |
T207A |
probably benign |
Het |
| Bsph2 |
A |
T |
7: 13,304,972 (GRCm39) |
M1K |
probably null |
Het |
| Cacna2d1 |
T |
A |
5: 16,531,338 (GRCm39) |
L535Q |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,846,642 (GRCm39) |
|
probably null |
Het |
| Chrdl2 |
T |
C |
7: 99,659,328 (GRCm39) |
|
probably null |
Het |
| Ctdnep1 |
A |
G |
11: 69,875,138 (GRCm39) |
N54S |
probably benign |
Het |
| Dclre1a |
A |
T |
19: 56,533,501 (GRCm39) |
D364E |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,735,615 (GRCm39) |
I1328V |
possibly damaging |
Het |
| Eno4 |
A |
T |
19: 58,959,112 (GRCm39) |
E411D |
probably benign |
Het |
| Fbxl14 |
A |
G |
6: 119,457,716 (GRCm39) |
Y299C |
probably benign |
Het |
| Fhdc1 |
T |
C |
3: 84,353,729 (GRCm39) |
S499G |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,458,147 (GRCm39) |
T771I |
possibly damaging |
Het |
| Letm2 |
G |
A |
8: 26,083,977 (GRCm39) |
H85Y |
probably benign |
Het |
| Map3k6 |
A |
T |
4: 132,978,250 (GRCm39) |
K1031* |
probably null |
Het |
| Mfsd4b5 |
T |
A |
10: 39,862,413 (GRCm39) |
T37S |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,721,720 (GRCm39) |
V346D |
probably benign |
Het |
| Myrip |
C |
T |
9: 120,217,359 (GRCm39) |
H98Y |
possibly damaging |
Het |
| Nos2 |
A |
G |
11: 78,835,549 (GRCm39) |
N443D |
possibly damaging |
Het |
| Notch2 |
A |
T |
3: 98,045,746 (GRCm39) |
D1637V |
possibly damaging |
Het |
| Or4c35 |
T |
A |
2: 89,808,929 (GRCm39) |
V269E |
probably damaging |
Het |
| Or6z6 |
G |
A |
7: 6,491,049 (GRCm39) |
R275C |
probably damaging |
Het |
| Pank1 |
C |
T |
19: 34,789,786 (GRCm39) |
G530D |
probably damaging |
Het |
| Pde4dip |
G |
T |
3: 97,648,709 (GRCm39) |
R1036S |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plin2 |
T |
C |
4: 86,578,357 (GRCm39) |
T247A |
probably benign |
Het |
| Rp1 |
T |
A |
1: 4,212,887 (GRCm39) |
I1067F |
unknown |
Het |
| Serpinb9d |
T |
A |
13: 33,380,541 (GRCm39) |
N142K |
probably benign |
Het |
| Slc12a5 |
A |
G |
2: 164,830,509 (GRCm39) |
Y639C |
probably damaging |
Het |
| Tfap2c |
A |
G |
2: 172,399,276 (GRCm39) |
M508V |
probably benign |
Het |
| Tmprss11d |
T |
C |
5: 86,478,962 (GRCm39) |
N147S |
probably benign |
Het |
| Togaram1 |
T |
A |
12: 65,049,383 (GRCm39) |
N1273K |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,709,687 (GRCm39) |
R1581* |
probably null |
Het |
| Uggt2 |
T |
A |
14: 119,308,293 (GRCm39) |
I363F |
probably damaging |
Het |
| Vmn2r63 |
T |
A |
7: 42,578,001 (GRCm39) |
D179V |
probably damaging |
Het |
|
| Other mutations in Kansl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02220:Kansl3
|
APN |
1 |
36,407,070 (GRCm39) |
start gained |
probably benign |
|
|
IGL02277:Kansl3
|
APN |
1 |
36,388,028 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02423:Kansl3
|
APN |
1 |
36,391,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0147:Kansl3
|
UTSW |
1 |
36,392,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Kansl3
|
UTSW |
1 |
36,392,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Kansl3
|
UTSW |
1 |
36,384,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0279:Kansl3
|
UTSW |
1 |
36,391,050 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0349:Kansl3
|
UTSW |
1 |
36,390,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1452:Kansl3
|
UTSW |
1 |
36,393,874 (GRCm39) |
splice site |
probably benign |
|
|
R1599:Kansl3
|
UTSW |
1 |
36,406,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1842:Kansl3
|
UTSW |
1 |
36,390,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2310:Kansl3
|
UTSW |
1 |
36,382,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Kansl3
|
UTSW |
1 |
36,384,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4961:Kansl3
|
UTSW |
1 |
36,387,764 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5339:Kansl3
|
UTSW |
1 |
36,406,802 (GRCm39) |
intron |
probably benign |
|
|
R5400:Kansl3
|
UTSW |
1 |
36,397,230 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5564:Kansl3
|
UTSW |
1 |
36,385,045 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5661:Kansl3
|
UTSW |
1 |
36,388,038 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5965:Kansl3
|
UTSW |
1 |
36,384,601 (GRCm39) |
splice site |
probably null |
|
|
R6185:Kansl3
|
UTSW |
1 |
36,385,099 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6261:Kansl3
|
UTSW |
1 |
36,404,686 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7055:Kansl3
|
UTSW |
1 |
36,404,701 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7134:Kansl3
|
UTSW |
1 |
36,390,848 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7362:Kansl3
|
UTSW |
1 |
36,383,208 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7461:Kansl3
|
UTSW |
1 |
36,382,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Kansl3
|
UTSW |
1 |
36,404,668 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7613:Kansl3
|
UTSW |
1 |
36,382,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7775:Kansl3
|
UTSW |
1 |
36,387,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7778:Kansl3
|
UTSW |
1 |
36,387,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8345:Kansl3
|
UTSW |
1 |
36,387,897 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9017:Kansl3
|
UTSW |
1 |
36,393,861 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9285:Kansl3
|
UTSW |
1 |
36,383,148 (GRCm39) |
splice site |
probably benign |
|
|
R9286:Kansl3
|
UTSW |
1 |
36,387,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9287:Kansl3
|
UTSW |
1 |
36,388,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAACTGTCTATCCTCACAG -3'
(R):5'- AAGATTCTTCCTTGCCTGACGG -3'
Sequencing Primer
(F):5'- TGTCTATCCTCACAGTAAAGGAC -3'
(R):5'- ACGGACTTCACTCGGGATAC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation