Incidental Mutation 'R0747:Kansl1'
ID |
70197 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kansl1
|
Ensembl Gene |
ENSMUSG00000018412 |
Gene Name |
KAT8 regulatory NSL complex subunit 1 |
Synonyms |
1700081L11Rik |
MMRRC Submission |
038928-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0747 (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 104233802 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 754
(M754L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102585
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018556]
[ENSMUST00000106971]
[ENSMUST00000106972]
[ENSMUST00000106977]
|
AlphaFold |
Q80TG1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018556
|
SMART Domains |
Protein: ENSMUSP00000018556 Gene: ENSMUSG00000018412
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 |
noncoding transcript
Transcript: ENSMUST00000069188
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106971
AA Change: M754L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000102584 Gene: ENSMUSG00000018412 AA Change: M754L
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: M754L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000102585 Gene: ENSMUSG00000018412 AA Change: M754L
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
|
SMART Domains |
Protein: ENSMUSP00000102590 Gene: ENSMUSG00000018412
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 |
|
Meta Mutation Damage Score |
0.0598 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 94.8%
|
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 |
Adam19 |
A |
T |
11: 46,009,322 (GRCm39) |
|
probably null |
Het |
Anks4b |
C |
T |
7: 119,781,386 (GRCm39) |
A139V |
probably damaging |
Het |
Arf1 |
G |
A |
11: 59,103,461 (GRCm39) |
R149C |
probably benign |
Het |
Axl |
A |
T |
7: 25,463,484 (GRCm39) |
C598S |
possibly damaging |
Het |
B3gnt2 |
T |
C |
11: 22,786,316 (GRCm39) |
I291V |
possibly damaging |
Het |
Ccdc158 |
T |
A |
5: 92,781,156 (GRCm39) |
H883L |
probably benign |
Het |
Cep15 |
T |
A |
14: 12,287,287 (GRCm38) |
M16K |
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,730,375 (GRCm39) |
S1644P |
probably damaging |
Het |
Cspg4 |
T |
C |
9: 56,797,564 (GRCm39) |
S1343P |
probably damaging |
Het |
D430041D05Rik |
G |
T |
2: 104,060,651 (GRCm39) |
H1414Q |
probably damaging |
Het |
Dnah5 |
C |
G |
15: 28,444,332 (GRCm39) |
I4043M |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,444,333 (GRCm39) |
C4044S |
possibly damaging |
Het |
Dpep3 |
C |
T |
8: 106,704,018 (GRCm39) |
A267T |
probably benign |
Het |
Dync1h1 |
A |
C |
12: 110,578,845 (GRCm39) |
H106P |
probably benign |
Het |
Dync1h1 |
A |
C |
12: 110,595,718 (GRCm39) |
E1466A |
probably damaging |
Het |
Fggy |
T |
C |
4: 95,700,337 (GRCm39) |
|
probably benign |
Het |
Frmd6 |
A |
G |
12: 70,910,830 (GRCm39) |
T5A |
probably benign |
Het |
Gnb5 |
G |
A |
9: 75,218,752 (GRCm39) |
V26I |
probably benign |
Het |
Hephl1 |
A |
T |
9: 14,965,297 (GRCm39) |
|
probably benign |
Het |
Hmmr |
C |
T |
11: 40,612,572 (GRCm39) |
|
probably benign |
Het |
Hpn |
A |
T |
7: 30,798,971 (GRCm39) |
F356Y |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,014,810 (GRCm39) |
|
probably benign |
Het |
Ism2 |
A |
G |
12: 87,332,172 (GRCm39) |
|
probably benign |
Het |
Kcnc4 |
A |
T |
3: 107,355,470 (GRCm39) |
I326N |
probably damaging |
Het |
Lcn6 |
G |
A |
2: 25,567,184 (GRCm39) |
V62M |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,760,353 (GRCm39) |
C2858S |
probably damaging |
Het |
Lyn |
G |
A |
4: 3,745,638 (GRCm39) |
|
probably benign |
Het |
Mov10 |
T |
A |
3: 104,709,812 (GRCm39) |
H358L |
probably benign |
Het |
Notch1 |
A |
G |
2: 26,362,152 (GRCm39) |
V60A |
unknown |
Het |
Or2t6 |
C |
T |
14: 14,175,429 (GRCm38) |
A218T |
probably benign |
Het |
Pgap2 |
C |
A |
7: 101,886,343 (GRCm39) |
Y176* |
probably null |
Het |
Pglyrp1 |
A |
G |
7: 18,624,200 (GRCm39) |
Q161R |
possibly damaging |
Het |
Plod3 |
A |
G |
5: 137,017,049 (GRCm39) |
N66S |
probably benign |
Het |
Psmc3 |
A |
G |
2: 90,884,645 (GRCm39) |
E18G |
probably benign |
Het |
Psme3 |
T |
G |
11: 101,207,872 (GRCm39) |
M9R |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 72,053,417 (GRCm39) |
N428S |
possibly damaging |
Het |
Rbp3 |
A |
G |
14: 33,678,235 (GRCm39) |
I728V |
possibly damaging |
Het |
Sall4 |
A |
T |
2: 168,596,886 (GRCm39) |
H651Q |
probably damaging |
Het |
Skint3 |
T |
A |
4: 112,111,102 (GRCm39) |
Y76N |
probably damaging |
Het |
Slc13a4 |
T |
C |
6: 35,255,263 (GRCm39) |
T342A |
probably damaging |
Het |
Slc25a1 |
G |
T |
16: 17,744,084 (GRCm39) |
T239K |
probably damaging |
Het |
Slc36a2 |
T |
A |
11: 55,060,685 (GRCm39) |
I242F |
probably benign |
Het |
Tekt2 |
G |
A |
4: 126,217,553 (GRCm39) |
Q171* |
probably null |
Het |
Tet2 |
T |
G |
3: 133,173,231 (GRCm39) |
H1677P |
possibly damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trcg1 |
C |
T |
9: 57,149,204 (GRCm39) |
P259S |
probably benign |
Het |
Ttn |
A |
C |
2: 76,540,942 (GRCm39) |
S25688A |
probably damaging |
Het |
Vmn2r117 |
T |
A |
17: 23,694,477 (GRCm39) |
R457* |
probably null |
Het |
Zbbx |
C |
T |
3: 75,062,734 (GRCm39) |
V8I |
probably 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 |
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 |
|
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'- AAGCAACAGTGACCCTGCTATGCC -3'
(R):5'- ATCCTGCTGCCCTGAGTATATAGCC -3'
Sequencing Primer
(F):5'- GCCTTTCTAGCAAGTGATGGAC -3'
(R):5'- GCCCTGAGTATATAGCCTTAGGAG -3'
|
Posted On |
2013-09-30 |