Incidental Mutation 'IGL01624:Kansl1'
| ID |
92642 |
| 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 # |
IGL01624
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
104224055-104359687 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 104315378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 220
(T220I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018556]
[ENSMUST00000106971]
[ENSMUST00000106972]
[ENSMUST00000106977]
[ENSMUST00000134266]
|
| AlphaFold |
Q80TG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018556
AA Change: T220I
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000018556
Gene: ENSMUSG00000018412
AA Change: T220I
| 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: T220I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102584
Gene: ENSMUSG00000018412
AA Change: T220I
| 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: T220I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102585
Gene: ENSMUSG00000018412
AA Change: T220I
| 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: ENSMUST00000106977
AA Change: T220I
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102590
Gene: ENSMUSG00000018412
AA Change: T220I
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,341,205 (GRCm39) |
T18I |
probably damaging |
Het |
| Acod1 |
A |
G |
14: 103,292,669 (GRCm39) |
T398A |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,542,163 (GRCm39) |
V853A |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,791,066 (GRCm39) |
S2488P |
probably damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,432,814 (GRCm39) |
I578V |
probably benign |
Het |
| Atp2c2 |
A |
C |
8: 120,484,189 (GRCm39) |
R933S |
probably benign |
Het |
| Cyp26a1 |
A |
T |
19: 37,686,781 (GRCm39) |
I78F |
possibly damaging |
Het |
| Gck |
A |
G |
11: 5,853,106 (GRCm39) |
V338A |
possibly damaging |
Het |
| Ints6 |
A |
T |
14: 62,934,320 (GRCm39) |
M729K |
probably benign |
Het |
| Kank2 |
C |
A |
9: 21,691,676 (GRCm39) |
G500W |
probably damaging |
Het |
| Lgi4 |
T |
C |
7: 30,767,113 (GRCm39) |
L380P |
probably damaging |
Het |
| Lhx9 |
G |
T |
1: 138,760,521 (GRCm39) |
Y276* |
probably null |
Het |
| Lipm |
T |
A |
19: 34,098,545 (GRCm39) |
Y340N |
probably damaging |
Het |
| Mlxip |
A |
G |
5: 123,533,392 (GRCm39) |
T134A |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,964,153 (GRCm39) |
I1246F |
probably damaging |
Het |
| Or14j3 |
A |
T |
17: 37,900,816 (GRCm39) |
W143R |
probably benign |
Het |
| Or6c69c |
T |
A |
10: 129,910,519 (GRCm39) |
L80H |
probably damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,574 (GRCm39) |
V76A |
probably benign |
Het |
| Rbm44 |
T |
A |
1: 91,084,380 (GRCm39) |
N601K |
probably damaging |
Het |
| Rgs4 |
T |
A |
1: 169,572,047 (GRCm39) |
Y84F |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,582,269 (GRCm39) |
T131A |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 23,998,969 (GRCm39) |
I121V |
probably benign |
Het |
| Slitrk5 |
T |
A |
14: 111,918,526 (GRCm39) |
Y717N |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,076,203 (GRCm39) |
S770P |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,069,399 (GRCm39) |
W516R |
probably damaging |
Het |
| Sugt1 |
A |
G |
14: 79,834,230 (GRCm39) |
N77S |
probably benign |
Het |
| Sumf1 |
C |
T |
6: 108,130,162 (GRCm39) |
D186N |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,712,790 (GRCm39) |
L709S |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,138,812 (GRCm39) |
I163K |
probably benign |
Het |
| Upf2 |
A |
T |
2: 6,038,990 (GRCm39) |
E287D |
probably benign |
Het |
| Usp17lb |
A |
G |
7: 104,491,720 (GRCm39) |
|
probably benign |
Het |
| Vmn2r10 |
G |
A |
5: 109,154,112 (GRCm39) |
S64F |
possibly damaging |
Het |
|
| Other mutations in Kansl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Kansl1
|
APN |
11 |
104,315,292 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation