Incidental Mutation 'R2907:Kansl1'
ID |
261702 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kansl1
|
Ensembl Gene |
ENSMUSG00000018412 |
Gene Name |
KAT8 regulatory NSL complex subunit 1 |
Synonyms |
1700081L11Rik |
MMRRC Submission |
040494-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2907 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
104224055-104359687 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104315286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 251
(S251C)
|
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: S251C
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000018556 Gene: ENSMUSG00000018412 AA Change: S251C
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: S251C
PolyPhen 2
Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102584 Gene: ENSMUSG00000018412 AA Change: S251C
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: S251C
PolyPhen 2
Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102585 Gene: ENSMUSG00000018412 AA Change: S251C
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: S251C
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102590 Gene: ENSMUSG00000018412 AA Change: S251C
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
97% (37/38) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6b |
A |
G |
5: 137,565,559 (GRCm39) |
E385G |
probably damaging |
Het |
Adam32 |
A |
T |
8: 25,353,520 (GRCm39) |
W690R |
probably damaging |
Het |
Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
Arap3 |
G |
A |
18: 38,123,580 (GRCm39) |
P452L |
possibly damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,199 (GRCm39) |
C211S |
probably damaging |
Het |
Asns |
A |
G |
6: 7,675,506 (GRCm39) |
S499P |
probably benign |
Het |
Aspn |
G |
T |
13: 49,705,374 (GRCm39) |
V79F |
probably damaging |
Het |
Astn2 |
A |
G |
4: 65,563,093 (GRCm39) |
I844T |
possibly damaging |
Het |
Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
Bcl6 |
G |
A |
16: 23,786,869 (GRCm39) |
R641W |
probably damaging |
Het |
Csmd3 |
T |
A |
15: 47,874,449 (GRCm39) |
I612F |
probably damaging |
Het |
Dnm1l |
A |
T |
16: 16,132,175 (GRCm39) |
S666T |
probably damaging |
Het |
Gucy2c |
A |
T |
6: 136,685,385 (GRCm39) |
V852E |
probably damaging |
Het |
H2-T3 |
G |
A |
17: 36,498,347 (GRCm39) |
R233C |
possibly damaging |
Het |
Igfbp4 |
A |
G |
11: 98,932,377 (GRCm39) |
|
probably benign |
Het |
Igkv16-104 |
T |
C |
6: 68,402,911 (GRCm39) |
I68T |
probably damaging |
Het |
Kcnk1 |
G |
T |
8: 126,722,538 (GRCm39) |
V114L |
probably benign |
Het |
Klra3 |
G |
T |
6: 130,310,302 (GRCm39) |
Q73K |
probably damaging |
Het |
Mcpt1 |
T |
C |
14: 56,257,580 (GRCm39) |
V242A |
probably damaging |
Het |
Nek10 |
C |
A |
14: 14,980,613 (GRCm38) |
Q990K |
possibly damaging |
Het |
Nlrp4d |
A |
T |
7: 10,112,354 (GRCm39) |
V605E |
probably benign |
Het |
Or10w1 |
C |
T |
19: 13,632,611 (GRCm39) |
P268S |
possibly damaging |
Het |
Or5an1b |
T |
C |
19: 12,300,032 (GRCm39) |
D53G |
probably damaging |
Het |
Or5d46 |
T |
C |
2: 88,170,827 (GRCm39) |
I306T |
probably benign |
Het |
Osbpl1a |
A |
G |
18: 13,004,129 (GRCm39) |
|
probably benign |
Het |
Otud4 |
T |
A |
8: 80,399,697 (GRCm39) |
S803T |
probably benign |
Het |
Pax9 |
C |
T |
12: 56,756,529 (GRCm39) |
T289I |
probably benign |
Het |
Pcdha5 |
A |
C |
18: 37,093,868 (GRCm39) |
I126L |
possibly damaging |
Het |
Psmd4 |
G |
T |
3: 94,941,273 (GRCm39) |
A55E |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
Sdr42e1 |
G |
A |
8: 118,389,511 (GRCm39) |
L377F |
probably damaging |
Het |
Setdb1 |
T |
C |
3: 95,234,512 (GRCm39) |
|
probably benign |
Het |
Uba3 |
T |
C |
6: 97,180,514 (GRCm39) |
E21G |
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
Zfp113 |
T |
C |
5: 138,143,219 (GRCm39) |
N344D |
probably benign |
Het |
Zfp738 |
T |
C |
13: 67,818,231 (GRCm39) |
I587V |
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 |
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'- AAATGTCTCTCCACCTGCTTGG -3'
(R):5'- ACTTCGTCATCTCTACAAGGTGG -3'
Sequencing Primer
(F):5'- GGCTTGCACAACCTGTAATCG -3'
(R):5'- CATCTCTACAAGGTGGTGAGG -3'
|
Posted On |
2015-01-23 |