Incidental Mutation 'R4975:Kansl1'
ID |
382590 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kansl1
|
Ensembl Gene |
ENSMUSG00000018412 |
Gene Name |
KAT8 regulatory NSL complex subunit 1 |
Synonyms |
1700081L11Rik |
MMRRC Submission |
042570-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4975 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
104224055-104359687 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104226390 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 922
(S922R)
|
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: S922R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000018556 Gene: ENSMUSG00000018412 AA Change: S922R
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 damaging
Transcript: ENSMUST00000106971
AA Change: S985R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102584 Gene: ENSMUSG00000018412 AA Change: S985R
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: S985R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102585 Gene: ENSMUSG00000018412 AA Change: S985R
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: S922R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102590 Gene: ENSMUSG00000018412 AA Change: S922R
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.8%
|
Validation Efficiency |
100% (81/81) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
A |
C |
3: 59,840,161 (GRCm39) |
T78P |
probably damaging |
Het |
Abcc8 |
T |
C |
7: 45,800,291 (GRCm39) |
K497R |
probably damaging |
Het |
Aldh1a3 |
C |
T |
7: 66,068,927 (GRCm39) |
R19Q |
possibly damaging |
Het |
Bmp2k |
A |
G |
5: 97,234,944 (GRCm39) |
|
probably benign |
Het |
Ccni |
A |
T |
5: 93,335,553 (GRCm39) |
L195Q |
possibly damaging |
Het |
Cdkl4 |
C |
A |
17: 80,832,764 (GRCm39) |
G327* |
probably null |
Het |
Cdsn |
T |
C |
17: 35,866,326 (GRCm39) |
V285A |
possibly damaging |
Het |
Cfap20dc |
A |
G |
14: 8,518,736 (GRCm38) |
V240A |
probably benign |
Het |
Chtf18 |
T |
C |
17: 25,943,540 (GRCm39) |
E352G |
possibly damaging |
Het |
Clasp2 |
T |
A |
9: 113,732,984 (GRCm39) |
I961N |
probably damaging |
Het |
Cpsf2 |
A |
G |
12: 101,949,752 (GRCm39) |
Q128R |
probably damaging |
Het |
Cttnbp2 |
C |
A |
6: 18,406,525 (GRCm39) |
Q1055H |
possibly damaging |
Het |
Cyld |
T |
G |
8: 89,433,860 (GRCm39) |
F216L |
probably benign |
Het |
Cyp3a41a |
A |
G |
5: 145,656,858 (GRCm39) |
M1T |
probably null |
Het |
Disp3 |
C |
T |
4: 148,328,673 (GRCm39) |
R1097H |
possibly damaging |
Het |
Dmap1 |
T |
C |
4: 117,538,233 (GRCm39) |
D67G |
possibly damaging |
Het |
Dnah8 |
T |
C |
17: 30,875,959 (GRCm39) |
F529L |
probably benign |
Het |
Ergic3 |
T |
C |
2: 155,859,638 (GRCm39) |
|
probably null |
Het |
Fkbp14 |
A |
G |
6: 54,569,943 (GRCm39) |
I29T |
probably benign |
Het |
Gm4845 |
T |
A |
1: 141,184,623 (GRCm39) |
|
noncoding transcript |
Het |
Gm7135 |
A |
T |
1: 97,281,801 (GRCm39) |
|
noncoding transcript |
Het |
Gpbar1 |
TACCAC |
TAC |
1: 74,318,704 (GRCm39) |
|
probably benign |
Het |
Gtf2ird1 |
T |
A |
5: 134,424,481 (GRCm39) |
I57F |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,809,280 (GRCm39) |
V1722A |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,283,037 (GRCm39) |
D1971G |
possibly damaging |
Het |
Il21 |
C |
A |
3: 37,286,653 (GRCm39) |
S21I |
probably damaging |
Het |
Itih4 |
T |
A |
14: 30,614,244 (GRCm39) |
I398N |
probably damaging |
Het |
Krt27 |
G |
A |
11: 99,237,722 (GRCm39) |
Q339* |
probably null |
Het |
Lama1 |
C |
A |
17: 68,045,829 (GRCm39) |
L245I |
possibly damaging |
Het |
Lmo2 |
T |
A |
2: 103,806,488 (GRCm39) |
C60* |
probably null |
Het |
Med16 |
A |
G |
10: 79,738,839 (GRCm39) |
S316P |
possibly damaging |
Het |
Mia3 |
T |
C |
1: 183,111,970 (GRCm39) |
N529S |
probably benign |
Het |
Msi2 |
T |
C |
11: 88,285,481 (GRCm39) |
K188E |
probably damaging |
Het |
Myh7 |
T |
C |
14: 55,209,128 (GRCm39) |
K1870R |
probably damaging |
Het |
Nhlrc1 |
A |
G |
13: 47,167,216 (GRCm39) |
V347A |
probably benign |
Het |
Nol6 |
C |
T |
4: 41,120,167 (GRCm39) |
R487H |
probably benign |
Het |
Or4c117 |
T |
C |
2: 88,955,682 (GRCm39) |
Y131C |
probably damaging |
Het |
Or4k41 |
T |
C |
2: 111,280,028 (GRCm39) |
I181T |
probably benign |
Het |
Or52h1 |
A |
T |
7: 103,828,736 (GRCm39) |
V293D |
probably damaging |
Het |
Or5d18 |
T |
C |
2: 87,865,005 (GRCm39) |
I159M |
probably benign |
Het |
Or6c205 |
T |
C |
10: 129,087,141 (GRCm39) |
I246T |
probably damaging |
Het |
Otog |
T |
C |
7: 45,937,415 (GRCm39) |
V1708A |
probably benign |
Het |
Ptprv |
A |
G |
1: 135,046,586 (GRCm39) |
|
noncoding transcript |
Het |
Pus7l |
A |
G |
15: 94,427,369 (GRCm39) |
V471A |
possibly damaging |
Het |
Rab11fip4 |
A |
G |
11: 79,510,497 (GRCm39) |
R68G |
probably damaging |
Het |
Ralgapb |
A |
G |
2: 158,277,428 (GRCm39) |
D264G |
possibly damaging |
Het |
Reln |
A |
G |
5: 22,165,424 (GRCm39) |
S2045P |
probably damaging |
Het |
Rgs22 |
A |
C |
15: 36,055,022 (GRCm39) |
Y593* |
probably null |
Het |
Ror2 |
C |
T |
13: 53,285,954 (GRCm39) |
D87N |
probably damaging |
Het |
Rps6ka4 |
A |
T |
19: 6,817,678 (GRCm39) |
|
probably null |
Het |
Rttn |
T |
A |
18: 89,082,209 (GRCm39) |
|
probably null |
Het |
Runx3 |
A |
G |
4: 134,898,446 (GRCm39) |
T206A |
probably benign |
Het |
Setx |
A |
G |
2: 29,054,562 (GRCm39) |
E2158G |
probably damaging |
Het |
Siglece |
C |
T |
7: 43,308,396 (GRCm39) |
|
probably null |
Het |
Slco1a8 |
T |
C |
6: 141,926,599 (GRCm39) |
S576G |
probably benign |
Het |
Snx1 |
A |
T |
9: 66,012,187 (GRCm39) |
L96* |
probably null |
Het |
Srrm1 |
A |
G |
4: 135,074,031 (GRCm39) |
|
probably benign |
Het |
Stk39 |
A |
T |
2: 68,051,336 (GRCm39) |
|
probably benign |
Het |
Sun3 |
G |
A |
11: 8,988,311 (GRCm39) |
R4* |
probably null |
Het |
Svil |
A |
G |
18: 5,054,025 (GRCm39) |
K347E |
possibly damaging |
Het |
Sybu |
T |
A |
15: 44,541,063 (GRCm39) |
E333V |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,192,520 (GRCm39) |
|
probably benign |
Het |
Tfip11 |
G |
T |
5: 112,483,613 (GRCm39) |
|
probably benign |
Het |
Tmc1 |
A |
C |
19: 20,884,319 (GRCm39) |
D40E |
probably damaging |
Het |
Twf2 |
G |
T |
9: 106,089,539 (GRCm39) |
G121W |
probably damaging |
Het |
Vpreb3 |
A |
G |
10: 75,775,636 (GRCm39) |
V50A |
probably damaging |
Het |
Vps8 |
T |
A |
16: 21,285,219 (GRCm39) |
L400Q |
probably damaging |
Het |
Xylt1 |
A |
T |
7: 117,266,565 (GRCm39) |
Y861F |
probably damaging |
Het |
Zfp608 |
T |
G |
18: 55,022,962 (GRCm39) |
T1485P |
probably damaging |
Het |
Zfp619 |
T |
G |
7: 39,186,504 (GRCm39) |
S845A |
possibly damaging |
Het |
Zscan4d |
A |
T |
7: 10,899,274 (GRCm39) |
M1K |
probably null |
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 |
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'- AGCTTTATCTTCGGCACATGC -3'
(R):5'- AACTGCTTTGGTGTAGATGCC -3'
Sequencing Primer
(F):5'- CCCCCTCCCTGTTCTACC -3'
(R):5'- TTAAAATAACTCCTCTTACTACCCCC -3'
|
Posted On |
2016-04-27 |