Incidental Mutation 'R0070:Kansl1l'
ID |
18007 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kansl1l
|
Ensembl Gene |
ENSMUSG00000026004 |
Gene Name |
KAT8 regulatory NSL complex subunit 1-like |
Synonyms |
1110028C15Rik, C430010P07Rik |
MMRRC Submission |
038361-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
R0070 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
66758407-66856721 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66840262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 346
(D346G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109620
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068168]
[ENSMUST00000113987]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068168
AA Change: D346G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000063843 Gene: ENSMUSG00000026004 AA Change: D346G
Domain | Start | End | E-Value | Type |
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
low complexity region
|
491 |
507 |
N/A |
INTRINSIC |
low complexity region
|
518 |
535 |
N/A |
INTRINSIC |
PEHE
|
755 |
875 |
2.42e-33 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113987
AA Change: D346G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109620 Gene: ENSMUSG00000026004 AA Change: D346G
Domain | Start | End | E-Value | Type |
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
low complexity region
|
491 |
507 |
N/A |
INTRINSIC |
low complexity region
|
518 |
535 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000129190
AA Change: D36G
|
SMART Domains |
Protein: ENSMUSP00000118603 Gene: ENSMUSG00000026004 AA Change: D36G
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
46 |
N/A |
INTRINSIC |
low complexity region
|
147 |
163 |
N/A |
INTRINSIC |
low complexity region
|
174 |
191 |
N/A |
INTRINSIC |
PEHE
|
455 |
575 |
2.42e-33 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132960
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189846
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194465
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194648
|
Meta Mutation Damage Score |
0.0599 |
Coding Region Coverage |
- 1x: 88.0%
- 3x: 83.9%
- 10x: 69.3%
- 20x: 41.9%
|
Validation Efficiency |
88% (67/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre4 |
T |
C |
17: 56,109,154 (GRCm39) |
I387T |
probably damaging |
Het |
Ankfn1 |
A |
T |
11: 89,283,128 (GRCm39) |
L173Q |
probably damaging |
Het |
Atp2a1 |
T |
C |
7: 126,046,624 (GRCm39) |
E892G |
probably benign |
Het |
AU018091 |
T |
C |
7: 3,208,738 (GRCm39) |
|
probably null |
Het |
Capn12 |
T |
C |
7: 28,588,551 (GRCm39) |
|
probably benign |
Het |
Capn2 |
C |
A |
1: 182,301,434 (GRCm39) |
|
probably benign |
Het |
Cd79b |
A |
G |
11: 106,202,744 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
C |
T |
1: 110,026,102 (GRCm39) |
A446V |
probably benign |
Het |
Ciapin1 |
T |
C |
8: 95,551,847 (GRCm39) |
N246S |
possibly damaging |
Het |
Flt3 |
A |
G |
5: 147,309,536 (GRCm39) |
|
probably benign |
Het |
Gm2027 |
T |
A |
12: 44,269,145 (GRCm39) |
|
probably benign |
Het |
Hipk2 |
G |
A |
6: 38,795,919 (GRCm39) |
R117* |
probably null |
Het |
Hycc1 |
T |
C |
5: 24,169,997 (GRCm39) |
S451G |
probably damaging |
Het |
Hykk |
T |
A |
9: 54,829,632 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
T |
C |
2: 25,782,374 (GRCm39) |
V191A |
probably benign |
Het |
Lcorl |
G |
A |
5: 45,891,043 (GRCm39) |
R437C |
probably damaging |
Het |
Mtch1 |
T |
A |
17: 29,559,033 (GRCm39) |
|
probably benign |
Het |
Myo1c |
A |
G |
11: 75,551,076 (GRCm39) |
N217S |
probably benign |
Het |
Nav2 |
A |
G |
7: 49,220,462 (GRCm39) |
E1669G |
probably damaging |
Het |
Or2h15 |
A |
G |
17: 38,441,780 (GRCm39) |
L101P |
probably damaging |
Het |
Or2w4 |
T |
C |
13: 21,795,431 (GRCm39) |
K236R |
possibly damaging |
Het |
Or5p51 |
T |
G |
7: 107,444,124 (GRCm39) |
D272A |
probably damaging |
Het |
Phf20l1 |
T |
G |
15: 66,511,840 (GRCm39) |
W940G |
probably damaging |
Het |
Pi4k2b |
A |
C |
5: 52,914,260 (GRCm39) |
D309A |
probably damaging |
Het |
Pkd2 |
T |
C |
5: 104,614,856 (GRCm39) |
C233R |
probably damaging |
Het |
Prkd3 |
A |
G |
17: 79,261,939 (GRCm39) |
Y792H |
probably damaging |
Het |
Pxdn |
T |
C |
12: 30,032,726 (GRCm39) |
L146S |
probably damaging |
Het |
Serpinh1 |
A |
T |
7: 98,998,521 (GRCm39) |
S36R |
probably damaging |
Het |
Setx |
A |
T |
2: 29,051,537 (GRCm39) |
T2030S |
probably benign |
Het |
Sin3b |
T |
A |
8: 73,452,210 (GRCm39) |
H105Q |
probably damaging |
Het |
Slx4 |
A |
T |
16: 3,805,880 (GRCm39) |
D557E |
possibly damaging |
Het |
Stag1 |
C |
T |
9: 100,838,461 (GRCm39) |
P1238S |
probably null |
Het |
Stra6 |
C |
T |
9: 58,059,898 (GRCm39) |
|
probably benign |
Het |
Taok1 |
T |
A |
11: 77,444,543 (GRCm39) |
M511L |
probably benign |
Het |
Tmem127 |
T |
C |
2: 127,098,979 (GRCm39) |
V171A |
probably damaging |
Het |
Tmem147 |
T |
C |
7: 30,427,526 (GRCm39) |
Y97C |
probably damaging |
Het |
Tmem150a |
A |
G |
6: 72,335,742 (GRCm39) |
|
probably null |
Het |
Top2a |
C |
G |
11: 98,905,886 (GRCm39) |
|
probably null |
Het |
Zc3hav1l |
A |
T |
6: 38,272,125 (GRCm39) |
S215T |
probably damaging |
Het |
Zscan20 |
C |
T |
4: 128,479,675 (GRCm39) |
V939I |
possibly damaging |
Het |
|
Other mutations in Kansl1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00576:Kansl1l
|
APN |
1 |
66,763,733 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL00825:Kansl1l
|
APN |
1 |
66,840,671 (GRCm39) |
missense |
probably benign |
|
IGL01644:Kansl1l
|
APN |
1 |
66,840,475 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01690:Kansl1l
|
APN |
1 |
66,840,232 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01811:Kansl1l
|
APN |
1 |
66,762,462 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01966:Kansl1l
|
APN |
1 |
66,777,227 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02549:Kansl1l
|
APN |
1 |
66,841,127 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02578:Kansl1l
|
APN |
1 |
66,840,848 (GRCm39) |
nonsense |
probably null |
|
IGL02707:Kansl1l
|
APN |
1 |
66,812,604 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03088:Kansl1l
|
APN |
1 |
66,774,884 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03187:Kansl1l
|
APN |
1 |
66,765,062 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03279:Kansl1l
|
APN |
1 |
66,774,825 (GRCm39) |
missense |
probably damaging |
0.99 |
arkansasii
|
UTSW |
1 |
66,801,262 (GRCm39) |
missense |
probably damaging |
1.00 |
Kansasii
|
UTSW |
1 |
66,817,265 (GRCm39) |
missense |
probably null |
0.41 |
PIT4810001:Kansl1l
|
UTSW |
1 |
66,801,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R0068:Kansl1l
|
UTSW |
1 |
66,760,047 (GRCm39) |
missense |
probably benign |
0.00 |
R0068:Kansl1l
|
UTSW |
1 |
66,760,047 (GRCm39) |
missense |
probably benign |
0.00 |
R0312:Kansl1l
|
UTSW |
1 |
66,817,265 (GRCm39) |
missense |
probably null |
0.41 |
R0456:Kansl1l
|
UTSW |
1 |
66,774,885 (GRCm39) |
missense |
probably damaging |
0.99 |
R0720:Kansl1l
|
UTSW |
1 |
66,840,515 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1381:Kansl1l
|
UTSW |
1 |
66,760,063 (GRCm39) |
missense |
probably benign |
0.01 |
R1470:Kansl1l
|
UTSW |
1 |
66,841,156 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1470:Kansl1l
|
UTSW |
1 |
66,841,156 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1759:Kansl1l
|
UTSW |
1 |
66,841,047 (GRCm39) |
missense |
probably damaging |
0.96 |
R1840:Kansl1l
|
UTSW |
1 |
66,817,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R2299:Kansl1l
|
UTSW |
1 |
66,812,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R2888:Kansl1l
|
UTSW |
1 |
66,763,764 (GRCm39) |
missense |
probably benign |
0.13 |
R2893:Kansl1l
|
UTSW |
1 |
66,840,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R3735:Kansl1l
|
UTSW |
1 |
66,840,409 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4249:Kansl1l
|
UTSW |
1 |
66,812,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R4448:Kansl1l
|
UTSW |
1 |
66,777,318 (GRCm39) |
missense |
probably damaging |
0.99 |
R4710:Kansl1l
|
UTSW |
1 |
66,840,655 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4768:Kansl1l
|
UTSW |
1 |
66,840,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R5523:Kansl1l
|
UTSW |
1 |
66,841,271 (GRCm39) |
missense |
probably benign |
0.00 |
R5645:Kansl1l
|
UTSW |
1 |
66,840,503 (GRCm39) |
missense |
probably benign |
0.27 |
R5840:Kansl1l
|
UTSW |
1 |
66,809,374 (GRCm39) |
intron |
probably benign |
|
R5964:Kansl1l
|
UTSW |
1 |
66,765,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R5990:Kansl1l
|
UTSW |
1 |
66,774,885 (GRCm39) |
missense |
probably damaging |
0.98 |
R6009:Kansl1l
|
UTSW |
1 |
66,774,759 (GRCm39) |
missense |
probably benign |
0.00 |
R6051:Kansl1l
|
UTSW |
1 |
66,765,885 (GRCm39) |
missense |
probably null |
1.00 |
R6092:Kansl1l
|
UTSW |
1 |
66,812,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R6316:Kansl1l
|
UTSW |
1 |
66,774,744 (GRCm39) |
missense |
probably benign |
|
R6402:Kansl1l
|
UTSW |
1 |
66,801,352 (GRCm39) |
missense |
probably damaging |
0.99 |
R6906:Kansl1l
|
UTSW |
1 |
66,762,437 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7241:Kansl1l
|
UTSW |
1 |
66,840,787 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7434:Kansl1l
|
UTSW |
1 |
66,801,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R7716:Kansl1l
|
UTSW |
1 |
66,840,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R7793:Kansl1l
|
UTSW |
1 |
66,817,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R8187:Kansl1l
|
UTSW |
1 |
66,840,896 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8972:Kansl1l
|
UTSW |
1 |
66,812,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R9347:Kansl1l
|
UTSW |
1 |
66,840,347 (GRCm39) |
missense |
probably benign |
0.14 |
R9386:Kansl1l
|
UTSW |
1 |
66,765,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R9749:Kansl1l
|
UTSW |
1 |
66,760,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R9750:Kansl1l
|
UTSW |
1 |
66,817,150 (GRCm39) |
missense |
probably benign |
0.36 |
|
Posted On |
2013-03-25 |