Incidental Mutation 'R0399:Kansl1'
| ID |
38076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kansl1
|
| Ensembl Gene |
ENSMUSG00000018412 |
| Gene Name |
KAT8 regulatory NSL complex subunit 1 |
| Synonyms |
1700081L11Rik |
| MMRRC Submission |
038604-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0399 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
104224055-104359687 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104314958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 360
(E360G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018556]
[ENSMUST00000106971]
[ENSMUST00000106972]
[ENSMUST00000106977]
[ENSMUST00000134266]
|
| AlphaFold |
Q80TG1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018556
AA Change: E360G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000018556
Gene: ENSMUSG00000018412
AA Change: E360G
| 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 |
possibly damaging
Transcript: ENSMUST00000106971
AA Change: E360G
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102584
Gene: ENSMUSG00000018412
AA Change: E360G
| 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 |
possibly damaging
Transcript: ENSMUST00000106972
AA Change: E360G
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102585
Gene: ENSMUSG00000018412
AA Change: E360G
| 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 |
possibly damaging
Transcript: ENSMUST00000106977
AA Change: E360G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102590
Gene: ENSMUSG00000018412
AA Change: E360G
| 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
|
| Meta Mutation Damage Score |
0.0645 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
| Validation Efficiency |
99% (71/72) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030452D12Rik |
T |
C |
8: 107,231,174 (GRCm39) |
M120T |
unknown |
Het |
| Actr1a |
A |
T |
19: 46,373,450 (GRCm39) |
|
probably null |
Het |
| Anapc5 |
A |
T |
5: 122,929,816 (GRCm39) |
V555D |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,108,008 (GRCm39) |
|
probably null |
Het |
| Arhgap30 |
A |
G |
1: 171,232,384 (GRCm39) |
E343G |
probably damaging |
Het |
| Asap2 |
C |
T |
12: 21,267,998 (GRCm39) |
T291I |
possibly damaging |
Het |
| Atp5f1a |
T |
A |
18: 77,869,536 (GRCm39) |
Y439* |
probably null |
Het |
| Auts2 |
A |
T |
5: 131,469,362 (GRCm39) |
S428T |
probably benign |
Het |
| B3gnt7 |
T |
A |
1: 86,233,433 (GRCm39) |
C109* |
probably null |
Het |
| C4b |
C |
A |
17: 34,947,843 (GRCm39) |
Q1657H |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,544,225 (GRCm39) |
L268* |
probably null |
Het |
| Cep290 |
G |
A |
10: 100,390,262 (GRCm39) |
|
probably benign |
Het |
| Cep68 |
T |
G |
11: 20,180,571 (GRCm39) |
I687L |
probably benign |
Het |
| Chd6 |
T |
A |
2: 160,894,608 (GRCm39) |
D84V |
probably damaging |
Het |
| Clpx |
A |
G |
9: 65,230,051 (GRCm39) |
T514A |
probably benign |
Het |
| Cox18 |
A |
T |
5: 90,362,887 (GRCm39) |
C324S |
probably benign |
Het |
| Cryzl2 |
T |
C |
1: 157,289,586 (GRCm39) |
Y75H |
probably damaging |
Het |
| Cxcr6 |
C |
T |
9: 123,640,016 (GRCm39) |
A339V |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,765,171 (GRCm39) |
L1721P |
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,380,818 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,827,047 (GRCm39) |
T1029A |
possibly damaging |
Het |
| Ehf |
A |
G |
2: 103,097,215 (GRCm39) |
Y246H |
probably damaging |
Het |
| Epas1 |
T |
C |
17: 87,112,621 (GRCm39) |
V73A |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,725,592 (GRCm39) |
I1009T |
possibly damaging |
Het |
| Glis3 |
A |
T |
19: 28,276,168 (GRCm39) |
|
probably benign |
Het |
| Gm17333 |
A |
T |
16: 77,649,678 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
| Gpr155 |
A |
T |
2: 73,200,346 (GRCm39) |
I387N |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,076,853 (GRCm39) |
D83G |
probably damaging |
Het |
| Grid2 |
A |
G |
6: 64,643,036 (GRCm39) |
I933V |
probably benign |
Het |
| Hhatl |
C |
T |
9: 121,617,828 (GRCm39) |
A254T |
probably benign |
Het |
| Hook2 |
A |
G |
8: 85,720,196 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,269,314 (GRCm39) |
S656R |
possibly damaging |
Het |
| Il11ra1 |
A |
T |
4: 41,766,185 (GRCm39) |
T241S |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,388,606 (GRCm39) |
I760V |
probably benign |
Het |
| Klf9 |
A |
T |
19: 23,119,446 (GRCm39) |
S110C |
probably damaging |
Het |
| Klhl31 |
A |
G |
9: 77,557,935 (GRCm39) |
N217S |
probably benign |
Het |
| Lct |
T |
C |
1: 128,228,262 (GRCm39) |
Y1077C |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,517,529 (GRCm39) |
|
probably benign |
Het |
| Lrrn1 |
T |
A |
6: 107,546,081 (GRCm39) |
H626Q |
probably benign |
Het |
| Mmp28 |
A |
T |
11: 83,342,558 (GRCm39) |
L40Q |
probably damaging |
Het |
| Mroh1 |
C |
T |
15: 76,336,299 (GRCm39) |
A1530V |
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,209,075 (GRCm39) |
|
probably benign |
Het |
| Naa25 |
A |
T |
5: 121,573,553 (GRCm39) |
M761L |
probably benign |
Het |
| Ncln |
G |
A |
10: 81,324,131 (GRCm39) |
A465V |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,560,550 (GRCm39) |
N98S |
probably damaging |
Het |
| Or52h9 |
T |
A |
7: 104,202,576 (GRCm39) |
V150E |
probably benign |
Het |
| Or5a1 |
G |
C |
19: 12,097,734 (GRCm39) |
A114G |
possibly damaging |
Het |
| Or6d15 |
C |
A |
6: 116,559,742 (GRCm39) |
S55I |
probably benign |
Het |
| Or8b4 |
G |
T |
9: 37,830,849 (GRCm39) |
A304S |
possibly damaging |
Het |
| Or9g3 |
T |
C |
2: 85,590,248 (GRCm39) |
I157M |
possibly damaging |
Het |
| Pacsin2 |
T |
C |
15: 83,270,983 (GRCm39) |
Y222C |
probably damaging |
Het |
| Pcdhb15 |
C |
T |
18: 37,607,221 (GRCm39) |
T151M |
possibly damaging |
Het |
| Plcz1 |
C |
A |
6: 139,968,956 (GRCm39) |
V161L |
possibly damaging |
Het |
| Ppp6c |
G |
A |
2: 39,090,136 (GRCm39) |
|
probably benign |
Het |
| Relch |
A |
G |
1: 105,678,684 (GRCm39) |
|
probably benign |
Het |
| Rhbdf2 |
T |
A |
11: 116,494,818 (GRCm39) |
Y286F |
probably benign |
Het |
| Rtn3 |
A |
T |
19: 7,435,241 (GRCm39) |
D231E |
probably damaging |
Het |
| Slc35c2 |
A |
C |
2: 165,122,815 (GRCm39) |
Y156* |
probably null |
Het |
| Spata46 |
A |
G |
1: 170,139,106 (GRCm39) |
D35G |
probably damaging |
Het |
| Tmed3 |
A |
G |
9: 89,584,926 (GRCm39) |
F110L |
possibly damaging |
Het |
| Tmem104 |
T |
G |
11: 115,092,134 (GRCm39) |
|
probably benign |
Het |
| Tpbg |
T |
A |
9: 85,726,991 (GRCm39) |
V320E |
possibly damaging |
Het |
| Trib2 |
T |
C |
12: 15,843,664 (GRCm39) |
D190G |
probably damaging |
Het |
| Tspan2 |
A |
G |
3: 102,666,701 (GRCm39) |
T26A |
probably damaging |
Het |
| Usp17lb |
A |
C |
7: 104,490,358 (GRCm39) |
Y190D |
possibly damaging |
Het |
| Utp18 |
C |
T |
11: 93,770,973 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,656,841 (GRCm39) |
D121E |
probably damaging |
Het |
| Vmn1r80 |
T |
A |
7: 11,927,244 (GRCm39) |
M118K |
possibly damaging |
Het |
| Vmn1r84 |
T |
C |
7: 12,095,794 (GRCm39) |
S300G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACATGGCATTGCTCAGGATCAG -3'
(R):5'- ATCCGTGCCCGAAGGTTACAGAAG -3'
Sequencing Primer
(F):5'- TCGAGTCAGTTCTTCCTCTTCAATG -3'
(R):5'- CAGAAGCGATTACAGGTTGTGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation