Incidental Mutation 'R9192:Kansl1'
ID |
697758 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kansl1
|
Ensembl Gene |
ENSMUSG00000018412 |
Gene Name |
KAT8 regulatory NSL complex subunit 1 |
Synonyms |
1700081L11Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9192 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
104224055-104359687 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104227142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 845
(D845E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102590
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018556]
[ENSMUST00000106971]
[ENSMUST00000106972]
[ENSMUST00000106977]
[ENSMUST00000106992]
|
AlphaFold |
Q80TG1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018556
AA Change: D845E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000018556 Gene: ENSMUSG00000018412 AA Change: D845E
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 damaging
Transcript: ENSMUST00000106971
AA Change: D908E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102584 Gene: ENSMUSG00000018412 AA Change: D908E
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 damaging
Transcript: ENSMUST00000106972
AA Change: D908E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102585 Gene: ENSMUSG00000018412 AA Change: D908E
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 damaging
Transcript: ENSMUST00000106977
AA Change: D845E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102590 Gene: ENSMUSG00000018412 AA Change: D845E
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: ENSMUST00000106992
|
SMART Domains |
Protein: ENSMUSP00000102605 Gene: ENSMUSG00000018411
Domain | Start | End | E-Value | Type |
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
low complexity region
|
105 |
154 |
N/A |
INTRINSIC |
Pfam:Tubulin-binding
|
174 |
205 |
6.1e-19 |
PFAM |
Pfam:Tubulin-binding
|
206 |
236 |
1.5e-21 |
PFAM |
Pfam:Tubulin-binding
|
237 |
267 |
6.9e-20 |
PFAM |
Pfam:Tubulin-binding
|
268 |
299 |
4.7e-19 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
T |
A |
7: 75,354,249 (GRCm39) |
M71K |
probably benign |
Het |
Angptl4 |
C |
T |
17: 34,000,285 (GRCm39) |
A28T |
probably benign |
Het |
Baz1b |
T |
G |
5: 135,239,648 (GRCm39) |
N249K |
possibly damaging |
Het |
BC035947 |
A |
T |
1: 78,475,877 (GRCm39) |
Y218* |
probably null |
Het |
Ctbp1 |
T |
C |
5: 33,408,333 (GRCm39) |
I211V |
probably benign |
Het |
Dars1 |
T |
C |
1: 128,299,889 (GRCm39) |
E365G |
probably benign |
Het |
E2f7 |
G |
T |
10: 110,599,851 (GRCm39) |
R202L |
probably damaging |
Het |
Fscb |
A |
C |
12: 64,520,890 (GRCm39) |
I192S |
possibly damaging |
Het |
Fsip2 |
A |
G |
2: 82,817,844 (GRCm39) |
I4526V |
probably benign |
Het |
Gucy2e |
A |
T |
11: 69,127,303 (GRCm39) |
F57I |
probably damaging |
Het |
Hcar2 |
A |
T |
5: 124,003,354 (GRCm39) |
C50S |
possibly damaging |
Het |
Herc1 |
G |
A |
9: 66,321,413 (GRCm39) |
V1267I |
probably benign |
Het |
Kdm2b |
T |
A |
5: 123,070,679 (GRCm39) |
T473S |
probably benign |
Het |
Klhdc10 |
T |
A |
6: 30,449,499 (GRCm39) |
I327N |
probably damaging |
Het |
Kmt5b |
T |
C |
19: 3,854,442 (GRCm39) |
L235P |
probably damaging |
Het |
Lama2 |
C |
T |
10: 27,204,181 (GRCm39) |
E486K |
possibly damaging |
Het |
Lhx6 |
A |
T |
2: 35,981,145 (GRCm39) |
W266R |
probably benign |
Het |
Mettl15 |
A |
T |
2: 109,104,810 (GRCm39) |
L65* |
probably null |
Het |
Mocos |
A |
G |
18: 24,812,594 (GRCm39) |
Q496R |
probably benign |
Het |
Neb |
T |
C |
2: 52,203,847 (GRCm39) |
S285G |
probably damaging |
Het |
Nos3 |
A |
G |
5: 24,582,611 (GRCm39) |
N613S |
probably benign |
Het |
Nphs2 |
G |
A |
1: 156,138,386 (GRCm39) |
R10Q |
probably benign |
Het |
Or2ag16 |
A |
G |
7: 106,352,430 (GRCm39) |
L55P |
probably damaging |
Het |
Or4x13 |
C |
A |
2: 90,231,716 (GRCm39) |
T237N |
probably damaging |
Het |
Or51i2 |
A |
T |
7: 103,689,875 (GRCm39) |
I291F |
possibly damaging |
Het |
Osbpl10 |
T |
C |
9: 114,996,294 (GRCm39) |
C119R |
probably damaging |
Het |
Otop1 |
T |
C |
5: 38,445,274 (GRCm39) |
V144A |
probably benign |
Het |
Ovca2 |
A |
G |
11: 75,068,862 (GRCm39) |
V179A |
possibly damaging |
Het |
Pcdha11 |
A |
G |
18: 37,140,527 (GRCm39) |
T719A |
probably benign |
Het |
Pcdhga1 |
A |
G |
18: 37,973,084 (GRCm39) |
N900D |
probably damaging |
Het |
Pcdhga8 |
A |
T |
18: 37,859,163 (GRCm39) |
Q73L |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,590,204 (GRCm39) |
K835E |
unknown |
Het |
Psmd2 |
T |
A |
16: 20,473,412 (GRCm39) |
Y158N |
probably damaging |
Het |
Pygl |
A |
G |
12: 70,243,822 (GRCm39) |
V631A |
probably damaging |
Het |
Rhoq |
A |
T |
17: 87,304,405 (GRCm39) |
I179F |
|
Het |
Rnf26rt |
T |
C |
6: 76,473,566 (GRCm39) |
D350G |
probably benign |
Het |
Rps6kb1 |
T |
C |
11: 86,404,381 (GRCm39) |
I257M |
probably damaging |
Het |
Sall3 |
G |
A |
18: 81,017,124 (GRCm39) |
A268V |
probably benign |
Het |
Serinc4 |
G |
A |
2: 121,287,250 (GRCm39) |
|
probably benign |
Het |
Slc27a2 |
T |
A |
2: 126,429,807 (GRCm39) |
M605K |
probably damaging |
Het |
Slc5a7 |
T |
C |
17: 54,594,389 (GRCm39) |
I197M |
probably benign |
Het |
Slc6a7 |
A |
G |
18: 61,133,649 (GRCm39) |
Y516H |
probably damaging |
Het |
Spag16 |
A |
G |
1: 69,963,007 (GRCm39) |
T385A |
unknown |
Het |
Stat6 |
G |
A |
10: 127,493,479 (GRCm39) |
R600H |
probably damaging |
Het |
Stk32b |
A |
G |
5: 37,786,344 (GRCm39) |
V40A |
probably damaging |
Het |
Sv2c |
T |
A |
13: 96,224,755 (GRCm39) |
I185L |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,156,703 (GRCm39) |
L2115H |
probably damaging |
Het |
Tas2r121 |
T |
C |
6: 132,677,492 (GRCm39) |
E160G |
probably benign |
Het |
Tle1 |
G |
T |
4: 72,036,753 (GRCm39) |
T727K |
probably benign |
Het |
Tmem79 |
A |
T |
3: 88,240,764 (GRCm39) |
D61E |
probably benign |
Het |
Tnrc18 |
C |
A |
5: 142,773,602 (GRCm39) |
R409L |
|
Het |
Tnrc6a |
C |
A |
7: 122,789,176 (GRCm39) |
P1665Q |
probably damaging |
Het |
Tns2 |
C |
A |
15: 102,021,416 (GRCm39) |
P1027Q |
probably damaging |
Het |
Trav7-5 |
C |
G |
14: 53,768,615 (GRCm39) |
A61G |
probably benign |
Het |
Ttn |
A |
G |
2: 76,745,255 (GRCm39) |
S5265P |
possibly damaging |
Het |
Tuba1c |
T |
A |
15: 98,935,737 (GRCm39) |
Y399* |
probably null |
Het |
Vav2 |
A |
T |
2: 27,172,394 (GRCm39) |
I504N |
probably damaging |
Het |
Vmn2r5 |
G |
T |
3: 64,398,938 (GRCm39) |
C680* |
probably null |
Het |
Zfp644 |
G |
C |
5: 106,785,829 (GRCm39) |
S239R |
probably benign |
Het |
Zfp954 |
C |
T |
7: 7,118,933 (GRCm39) |
G204S |
probably damaging |
Het |
Zswim8 |
C |
T |
14: 20,769,588 (GRCm39) |
T1265I |
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 |
|
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 |
R9494:Kansl1
|
UTSW |
11 |
104,247,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAGACCAACTTTTGAGGCC -3'
(R):5'- CTTGGAAGAACATGCACACC -3'
Sequencing Primer
(F):5'- CCAACTTTTGAGGCCTTATAAATCAC -3'
(R):5'- AACACTCACTGCCTTAAGACATAGGG -3'
|
Posted On |
2022-02-07 |