Incidental Mutation 'R7888:Kansl1'
ID |
609172 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kansl1
|
Ensembl Gene |
ENSMUSG00000018412 |
Gene Name |
KAT8 regulatory NSL complex subunit 1 |
Synonyms |
1700081L11Rik |
MMRRC Submission |
045940-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7888 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
104224055-104359687 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104233248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 760
(T760A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102590
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018556]
[ENSMUST00000106971]
[ENSMUST00000106972]
[ENSMUST00000106977]
|
AlphaFold |
Q80TG1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018556
AA Change: T760A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000018556 Gene: ENSMUSG00000018412 AA Change: T760A
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: T823A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000102584 Gene: ENSMUSG00000018412 AA Change: T823A
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: T823A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000102585 Gene: ENSMUSG00000018412 AA Change: T823A
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: T760A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102590 Gene: ENSMUSG00000018412 AA Change: T760A
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 |
0.0594 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (45/45) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
G |
T |
14: 8,246,415 (GRCm38) |
Q459K |
probably benign |
Het |
Ano3 |
T |
A |
2: 110,496,773 (GRCm39) |
Y792F |
probably damaging |
Het |
Aoc3 |
C |
T |
11: 101,223,323 (GRCm39) |
H520Y |
probably damaging |
Het |
Atp4b |
A |
G |
8: 13,439,811 (GRCm39) |
F137S |
probably damaging |
Het |
Blvrb |
A |
G |
7: 27,165,159 (GRCm39) |
T160A |
probably damaging |
Het |
Brd2 |
G |
A |
17: 34,335,995 (GRCm39) |
R73W |
probably damaging |
Het |
Btaf1 |
A |
G |
19: 36,943,036 (GRCm39) |
T306A |
probably benign |
Het |
Ccdc154 |
G |
A |
17: 25,383,578 (GRCm39) |
V212M |
possibly damaging |
Het |
Ccdc40 |
A |
G |
11: 119,119,967 (GRCm39) |
E3G |
unknown |
Het |
Cenpb |
T |
A |
2: 131,021,762 (GRCm39) |
E12V |
probably damaging |
Het |
Cnot8 |
T |
C |
11: 58,002,137 (GRCm39) |
S57P |
probably benign |
Het |
Cryba4 |
T |
C |
5: 112,398,918 (GRCm39) |
E42G |
probably benign |
Het |
Fam72a |
T |
A |
1: 131,456,578 (GRCm39) |
I47N |
probably damaging |
Het |
Gm27027 |
A |
C |
2: 93,787,880 (GRCm39) |
|
probably null |
Het |
Itgb2 |
T |
C |
10: 77,400,478 (GRCm39) |
V697A |
probably benign |
Het |
Jakmip1 |
A |
G |
5: 37,262,208 (GRCm39) |
N336D |
probably damaging |
Het |
Lrrc37a |
T |
A |
11: 103,392,307 (GRCm39) |
E1039D |
probably benign |
Het |
Meaf6 |
T |
G |
4: 125,003,213 (GRCm39) |
|
probably null |
Het |
Mpz |
T |
C |
1: 170,987,204 (GRCm39) |
|
probably null |
Het |
Mtss1 |
A |
T |
15: 58,844,373 (GRCm39) |
M82K |
probably damaging |
Het |
Myo6 |
T |
C |
9: 80,203,947 (GRCm39) |
S1063P |
probably damaging |
Het |
Niban2 |
T |
A |
2: 32,812,137 (GRCm39) |
Y406* |
probably null |
Het |
Nsun6 |
T |
A |
2: 15,001,355 (GRCm39) |
E400D |
probably benign |
Het |
Or10al5 |
A |
T |
17: 38,062,888 (GRCm39) |
N48Y |
probably damaging |
Het |
Or1e26 |
T |
C |
11: 73,480,354 (GRCm39) |
D70G |
probably damaging |
Het |
Or1l4b |
A |
T |
2: 37,036,334 (GRCm39) |
M37L |
probably benign |
Het |
Or2t26 |
T |
C |
11: 49,039,266 (GRCm39) |
Y61H |
probably damaging |
Het |
Or52ae7 |
T |
A |
7: 103,120,006 (GRCm39) |
Y253* |
probably null |
Het |
Or5au1 |
A |
G |
14: 52,273,347 (GRCm39) |
S74P |
probably damaging |
Het |
Or8j3b |
C |
A |
2: 86,205,270 (GRCm39) |
C162F |
probably benign |
Het |
Pfdn5 |
T |
A |
15: 102,237,024 (GRCm39) |
V92E |
probably damaging |
Het |
Pik3c2g |
T |
C |
6: 139,842,470 (GRCm39) |
V801A |
|
Het |
Psme2b |
T |
A |
11: 48,836,402 (GRCm39) |
T182S |
possibly damaging |
Het |
Ptcd3 |
G |
A |
6: 71,860,431 (GRCm39) |
A592V |
probably damaging |
Het |
Rabgap1 |
T |
A |
2: 37,427,319 (GRCm39) |
Y633* |
probably null |
Het |
Rnf39 |
A |
T |
17: 37,258,133 (GRCm39) |
T222S |
probably damaging |
Het |
Scnn1g |
A |
G |
7: 121,342,878 (GRCm39) |
N277S |
probably damaging |
Het |
Slc16a13 |
T |
G |
11: 70,109,806 (GRCm39) |
I232L |
possibly damaging |
Het |
Slco2b1 |
T |
G |
7: 99,338,050 (GRCm39) |
R111S |
unknown |
Het |
Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
Tmc3 |
T |
C |
7: 83,249,217 (GRCm39) |
W269R |
probably damaging |
Het |
Vmn2r4 |
T |
C |
3: 64,313,943 (GRCm39) |
E346G |
probably damaging |
Het |
Vps52 |
A |
G |
17: 34,184,725 (GRCm39) |
N666S |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,812,920 (GRCm39) |
D1618N |
|
Het |
Zfp773 |
C |
A |
7: 7,135,978 (GRCm39) |
C206F |
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 |
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'- GCAACTGTCTACCCATGACTTAG -3'
(R):5'- GTGTATATTGCTGGCCTTCCTAAC -3'
Sequencing Primer
(F):5'- TGTCTACCCATGACTTAGCAGAG -3'
(R):5'- GGCCTTCCTAACATATGTCAGAAGTC -3'
|
Posted On |
2019-12-20 |