Incidental Mutation 'R8251:Kansl1'
ID |
640253 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kansl1
|
Ensembl Gene |
ENSMUSG00000018412 |
Gene Name |
KAT8 regulatory NSL complex subunit 1 |
Synonyms |
1700081L11Rik |
MMRRC Submission |
067677-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8251 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
104224055-104359687 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104315186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 284
(I284T)
|
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: I284T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000018556 Gene: ENSMUSG00000018412 AA Change: I284T
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: I284T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102584 Gene: ENSMUSG00000018412 AA Change: I284T
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: I284T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102585 Gene: ENSMUSG00000018412 AA Change: I284T
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: I284T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102590 Gene: ENSMUSG00000018412 AA Change: I284T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (50/50) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad11 |
A |
T |
9: 103,968,906 (GRCm39) |
D463V |
possibly damaging |
Het |
Adamtsl4 |
C |
T |
3: 95,591,884 (GRCm39) |
R68Q |
probably damaging |
Het |
Ankrd12 |
A |
T |
17: 66,291,554 (GRCm39) |
M1293K |
possibly damaging |
Het |
Arhgap21 |
T |
C |
2: 20,854,221 (GRCm39) |
T1724A |
probably benign |
Het |
C1qtnf12 |
T |
C |
4: 156,050,916 (GRCm39) |
I295T |
probably damaging |
Het |
Cacna1s |
G |
T |
1: 136,014,461 (GRCm39) |
G623W |
probably damaging |
Het |
Cemip2 |
T |
C |
19: 21,784,765 (GRCm39) |
V416A |
possibly damaging |
Het |
Cenpe |
T |
A |
3: 134,957,445 (GRCm39) |
|
probably null |
Het |
Cep85l |
A |
T |
10: 53,157,450 (GRCm39) |
I751N |
probably damaging |
Het |
Corin |
T |
A |
5: 72,514,269 (GRCm39) |
D468V |
probably damaging |
Het |
Ctsr |
A |
G |
13: 61,310,592 (GRCm39) |
V51A |
probably damaging |
Het |
Dnah14 |
A |
C |
1: 181,492,430 (GRCm39) |
E1630A |
probably damaging |
Het |
Dsg4 |
C |
A |
18: 20,604,221 (GRCm39) |
A896E |
probably damaging |
Het |
Ear2 |
T |
C |
14: 44,340,477 (GRCm39) |
L45P |
probably benign |
Het |
Fshr |
T |
G |
17: 89,507,913 (GRCm39) |
D43A |
probably benign |
Het |
Gata6 |
G |
A |
18: 11,054,670 (GRCm39) |
G200S |
probably benign |
Het |
Gnaq |
T |
A |
19: 16,312,419 (GRCm39) |
M227K |
probably damaging |
Het |
Ifit1bl1 |
T |
C |
19: 34,572,232 (GRCm39) |
Q75R |
possibly damaging |
Het |
Impg2 |
A |
G |
16: 56,079,960 (GRCm39) |
E479G |
possibly damaging |
Het |
Ints7 |
C |
T |
1: 191,353,545 (GRCm39) |
P957L |
unknown |
Het |
Jmjd1c |
T |
C |
10: 67,075,068 (GRCm39) |
V73A |
noncoding transcript |
Het |
Kcnj9 |
A |
G |
1: 172,154,089 (GRCm39) |
S12P |
probably benign |
Het |
Krt16 |
A |
G |
11: 100,139,196 (GRCm39) |
|
probably null |
Het |
Lrguk |
A |
T |
6: 34,093,374 (GRCm39) |
T632S |
probably benign |
Het |
Man2b1 |
G |
A |
8: 85,821,758 (GRCm39) |
V687M |
probably damaging |
Het |
Mroh5 |
T |
C |
15: 73,655,002 (GRCm39) |
E653G |
probably benign |
Het |
Nabp1 |
A |
T |
1: 51,516,737 (GRCm39) |
S44T |
probably benign |
Het |
Nt5dc3 |
C |
A |
10: 86,656,091 (GRCm39) |
H256Q |
probably damaging |
Het |
Or1j15 |
A |
C |
2: 36,459,467 (GRCm39) |
N286H |
probably damaging |
Het |
Or4a81 |
A |
T |
2: 89,619,567 (GRCm39) |
I43N |
probably damaging |
Het |
Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
Pkd2 |
T |
C |
5: 104,646,353 (GRCm39) |
V720A |
probably benign |
Het |
Pnpla6 |
T |
A |
8: 3,582,399 (GRCm39) |
N706K |
probably benign |
Het |
Polr1b |
C |
A |
2: 128,965,086 (GRCm39) |
P724Q |
probably damaging |
Het |
Rbpjl |
A |
G |
2: 164,255,854 (GRCm39) |
E366G |
probably damaging |
Het |
Runx1t1 |
A |
G |
4: 13,846,947 (GRCm39) |
T244A |
possibly damaging |
Het |
Slitrk3 |
C |
T |
3: 72,956,729 (GRCm39) |
R681H |
possibly damaging |
Het |
Slu7 |
A |
G |
11: 43,330,128 (GRCm39) |
Y185C |
probably damaging |
Het |
Snupn |
T |
A |
9: 56,888,137 (GRCm39) |
F231L |
probably damaging |
Het |
Srpk2 |
G |
A |
5: 23,729,266 (GRCm39) |
P458S |
probably benign |
Het |
St3gal5 |
T |
A |
6: 72,126,144 (GRCm39) |
F330I |
probably benign |
Het |
Taf3 |
T |
C |
2: 9,922,962 (GRCm39) |
D878G |
possibly damaging |
Het |
Tex44 |
A |
G |
1: 86,354,936 (GRCm39) |
N282D |
probably benign |
Het |
Tmem126a |
T |
C |
7: 90,100,094 (GRCm39) |
I150V |
probably benign |
Het |
Trbv21 |
A |
G |
6: 41,179,540 (GRCm39) |
|
probably benign |
Het |
Vmn2r70 |
A |
T |
7: 85,215,186 (GRCm39) |
L116* |
probably null |
Het |
Vps36 |
A |
G |
8: 22,682,932 (GRCm39) |
T16A |
probably benign |
Het |
Wdr17 |
C |
A |
8: 55,110,267 (GRCm39) |
G837W |
probably damaging |
Het |
Zfp397 |
T |
C |
18: 24,093,361 (GRCm39) |
V282A |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACTCACTGGCAGCTTTTCTC -3'
(R):5'- AGCACTGCAAACAAATCTTCTG -3'
Sequencing Primer
(F):5'- TTCGGGTCAACATCAACTGG -3'
(R):5'- GTTAATTCCATGGACCAGCCG -3'
|
Posted On |
2020-07-28 |