Incidental Mutation 'IGL00326:Kansl1'
| ID |
4484 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kansl1
|
| Ensembl Gene |
ENSMUSG00000018412 |
| Gene Name |
KAT8 regulatory NSL complex subunit 1 |
| Synonyms |
1700081L11Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00326
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
104224055-104359687 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104315292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 249
(S249P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018556]
[ENSMUST00000106971]
[ENSMUST00000106972]
[ENSMUST00000106977]
[ENSMUST00000134266]
|
| AlphaFold |
Q80TG1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018556
AA Change: S249P
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000018556
Gene: ENSMUSG00000018412
AA Change: S249P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
283 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
772 |
N/A |
INTRINSIC |
|
PEHE
|
816 |
966 |
1.53e-53 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106971
AA Change: S249P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102584
Gene: ENSMUSG00000018412
AA Change: S249P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
283 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
835 |
N/A |
INTRINSIC |
|
PEHE
|
879 |
1029 |
1.53e-53 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106972
AA Change: S249P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102585
Gene: ENSMUSG00000018412
AA Change: S249P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
283 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
835 |
N/A |
INTRINSIC |
|
PEHE
|
879 |
1029 |
1.53e-53 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106977
AA Change: S249P
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102590
Gene: ENSMUSG00000018412
AA Change: S249P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
283 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
772 |
N/A |
INTRINSIC |
|
PEHE
|
816 |
966 |
1.53e-53 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134266
|
| SMART Domains |
Protein: ENSMUSP00000116367
Gene: ENSMUSG00000018412
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195891
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
All alleles(136) : Gene trapped(136)
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
G |
T |
4: 62,461,981 (GRCm39) |
|
probably null |
Het |
| 9230109A22Rik |
G |
T |
15: 25,139,201 (GRCm39) |
|
noncoding transcript |
Het |
| Acd |
A |
T |
8: 106,425,086 (GRCm39) |
Y378N |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,112,560 (GRCm39) |
V709A |
probably benign |
Het |
| Axl |
A |
T |
7: 25,485,324 (GRCm39) |
L168H |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Drd3 |
G |
A |
16: 43,582,684 (GRCm39) |
R59H |
probably benign |
Het |
| Erlec1 |
T |
C |
11: 30,898,510 (GRCm39) |
N180S |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,388,828 (GRCm39) |
S634R |
probably benign |
Het |
| Focad |
A |
T |
4: 88,275,711 (GRCm39) |
T1107S |
unknown |
Het |
| Galnt11 |
T |
C |
5: 25,453,829 (GRCm39) |
|
probably benign |
Het |
| Gigyf1 |
C |
T |
5: 137,517,210 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
A |
G |
2: 127,274,316 (GRCm39) |
T353A |
probably benign |
Het |
| H2bc3 |
G |
T |
13: 23,931,111 (GRCm39) |
V112L |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,478,676 (GRCm39) |
F178L |
probably damaging |
Het |
| Igkv6-13 |
A |
T |
6: 70,434,645 (GRCm39) |
S67T |
probably damaging |
Het |
| Iqch |
T |
C |
9: 63,387,936 (GRCm39) |
T824A |
probably damaging |
Het |
| Large1 |
C |
T |
8: 73,858,611 (GRCm39) |
A86T |
probably benign |
Het |
| Lysmd3 |
C |
T |
13: 81,813,363 (GRCm39) |
A77V |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,895,780 (GRCm39) |
S289C |
probably damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,179 (GRCm39) |
S219T |
probably damaging |
Het |
| Or5p57 |
A |
G |
7: 107,665,495 (GRCm39) |
V140A |
probably benign |
Het |
| Pear1 |
C |
T |
3: 87,659,423 (GRCm39) |
V804I |
possibly damaging |
Het |
| Rgs11 |
T |
A |
17: 26,426,371 (GRCm39) |
I230N |
probably damaging |
Het |
| Slc13a3 |
A |
T |
2: 165,315,017 (GRCm39) |
L22Q |
possibly damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,755,766 (GRCm39) |
V44A |
probably damaging |
Het |
| Ttc12 |
G |
T |
9: 49,382,506 (GRCm39) |
|
probably null |
Het |
| Vmn2r2 |
A |
G |
3: 64,041,319 (GRCm39) |
|
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,113,591 (GRCm39) |
|
probably benign |
Het |
| Zfp354a |
G |
A |
11: 50,960,190 (GRCm39) |
E132K |
probably benign |
Het |
|
| Other mutations in Kansl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00658:Kansl1
|
APN |
11 |
104,248,352 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL00688:Kansl1
|
APN |
11 |
104,315,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01121:Kansl1
|
APN |
11 |
104,226,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01624:Kansl1
|
APN |
11 |
104,315,378 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02187:Kansl1
|
APN |
11 |
104,269,657 (GRCm39) |
splice site |
probably null |
|
|
IGL02711:Kansl1
|
APN |
11 |
104,226,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02965:Kansl1
|
APN |
11 |
104,225,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
kansas
|
UTSW |
11 |
104,314,958 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
wichita
|
UTSW |
11 |
104,247,593 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
NA:Kansl1
|
UTSW |
11 |
104,233,193 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0399:Kansl1
|
UTSW |
11 |
104,314,958 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0611:Kansl1
|
UTSW |
11 |
104,229,012 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0665:Kansl1
|
UTSW |
11 |
104,234,364 (GRCm39) |
missense |
probably benign |
|
|
R0667:Kansl1
|
UTSW |
11 |
104,234,364 (GRCm39) |
missense |
probably benign |
|
|
R0747:Kansl1
|
UTSW |
11 |
104,233,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0865:Kansl1
|
UTSW |
11 |
104,315,194 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1479:Kansl1
|
UTSW |
11 |
104,233,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1679:Kansl1
|
UTSW |
11 |
104,314,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Kansl1
|
UTSW |
11 |
104,233,283 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1922:Kansl1
|
UTSW |
11 |
104,234,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Kansl1
|
UTSW |
11 |
104,225,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2105:Kansl1
|
UTSW |
11 |
104,226,385 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2907:Kansl1
|
UTSW |
11 |
104,315,286 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3935:Kansl1
|
UTSW |
11 |
104,234,369 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3936:Kansl1
|
UTSW |
11 |
104,234,369 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4282:Kansl1
|
UTSW |
11 |
104,269,515 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4455:Kansl1
|
UTSW |
11 |
104,315,184 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4696:Kansl1
|
UTSW |
11 |
104,247,593 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4846:Kansl1
|
UTSW |
11 |
104,233,798 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4890:Kansl1
|
UTSW |
11 |
104,233,868 (GRCm39) |
missense |
probably benign |
|
|
R4973:Kansl1
|
UTSW |
11 |
104,315,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4975:Kansl1
|
UTSW |
11 |
104,226,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5085:Kansl1
|
UTSW |
11 |
104,315,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5227:Kansl1
|
UTSW |
11 |
104,247,640 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5310:Kansl1
|
UTSW |
11 |
104,315,684 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5652:Kansl1
|
UTSW |
11 |
104,228,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5677:Kansl1
|
UTSW |
11 |
104,225,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5980:Kansl1
|
UTSW |
11 |
104,234,463 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6013:Kansl1
|
UTSW |
11 |
104,241,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6253:Kansl1
|
UTSW |
11 |
104,248,352 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7751:Kansl1
|
UTSW |
11 |
104,314,890 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7880:Kansl1
|
UTSW |
11 |
104,314,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7888:Kansl1
|
UTSW |
11 |
104,233,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7935:Kansl1
|
UTSW |
11 |
104,315,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8251:Kansl1
|
UTSW |
11 |
104,315,186 (GRCm39) |
missense |
probably benign |
|
|
R9033:Kansl1
|
UTSW |
11 |
104,248,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9192:Kansl1
|
UTSW |
11 |
104,227,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Kansl1
|
UTSW |
11 |
104,247,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation