Incidental Mutation 'IGL02549:Kansl1l'
ID |
297975 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kansl1l
|
Ensembl Gene |
ENSMUSG00000026004 |
Gene Name |
KAT8 regulatory NSL complex subunit 1-like |
Synonyms |
1110028C15Rik, C430010P07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
IGL02549
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
66758407-66856721 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66841127 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 58
(T58A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063843
(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: T58A
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000063843 Gene: ENSMUSG00000026004 AA Change: T58A
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 benign
Transcript: ENSMUST00000113987
AA Change: T58A
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000109620 Gene: ENSMUSG00000026004 AA Change: T58A
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 |
probably benign
Transcript: ENSMUST00000129190
|
SMART Domains |
Protein: ENSMUSP00000118603 Gene: ENSMUSG00000026004
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 109,992,879 (GRCm39) |
E1595G |
probably damaging |
Het |
Adnp2 |
G |
A |
18: 80,172,333 (GRCm39) |
A692V |
probably damaging |
Het |
Ankk1 |
A |
G |
9: 49,329,993 (GRCm39) |
S321P |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,618,032 (GRCm39) |
Y1919C |
probably damaging |
Het |
Atp10a |
A |
G |
7: 58,469,481 (GRCm39) |
T1111A |
probably benign |
Het |
Avpr1a |
A |
T |
10: 122,288,069 (GRCm39) |
H359L |
possibly damaging |
Het |
C1rl |
A |
T |
6: 124,470,796 (GRCm39) |
I35F |
possibly damaging |
Het |
Casp8 |
G |
A |
1: 58,872,925 (GRCm39) |
C287Y |
probably benign |
Het |
Ccdc88c |
A |
T |
12: 100,895,191 (GRCm39) |
S1437T |
probably benign |
Het |
Cd200r1 |
C |
T |
16: 44,610,341 (GRCm39) |
P150S |
probably damaging |
Het |
Col2a1 |
G |
A |
15: 97,875,680 (GRCm39) |
R1202C |
unknown |
Het |
Copb1 |
A |
T |
7: 113,846,032 (GRCm39) |
D179E |
probably benign |
Het |
Cyp2c29 |
C |
T |
19: 39,298,229 (GRCm39) |
T258I |
possibly damaging |
Het |
Flacc1 |
T |
C |
1: 58,698,441 (GRCm39) |
T326A |
probably benign |
Het |
Gemin5 |
T |
C |
11: 58,025,629 (GRCm39) |
Y991C |
probably damaging |
Het |
Gm4978 |
T |
C |
9: 69,357,641 (GRCm39) |
|
probably benign |
Het |
Gm7732 |
A |
T |
17: 21,349,649 (GRCm39) |
|
noncoding transcript |
Het |
Gucy2f |
T |
C |
X: 140,943,200 (GRCm39) |
I478V |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,307,183 (GRCm39) |
H1001R |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,236,662 (GRCm39) |
V1173A |
probably benign |
Het |
Kcnk13 |
A |
T |
12: 100,028,010 (GRCm39) |
K362* |
probably null |
Het |
Lama1 |
T |
G |
17: 68,097,830 (GRCm39) |
L1737V |
possibly damaging |
Het |
Lama4 |
A |
G |
10: 38,936,200 (GRCm39) |
N625S |
probably benign |
Het |
Loxl1 |
A |
T |
9: 58,200,921 (GRCm39) |
C514S |
probably damaging |
Het |
Muc13 |
A |
C |
16: 33,628,339 (GRCm39) |
E363A |
probably damaging |
Het |
Noxo1 |
G |
T |
17: 24,919,145 (GRCm39) |
G289V |
probably damaging |
Het |
Nudt7 |
G |
T |
8: 114,878,688 (GRCm39) |
D239Y |
probably damaging |
Het |
Polr3e |
G |
T |
7: 120,538,982 (GRCm39) |
V407F |
probably damaging |
Het |
Pou5f2 |
T |
A |
13: 78,173,709 (GRCm39) |
L217Q |
probably damaging |
Het |
R3hdm2 |
A |
G |
10: 127,320,094 (GRCm39) |
|
probably benign |
Het |
Rab11fip3 |
A |
C |
17: 26,213,294 (GRCm39) |
N793K |
probably damaging |
Het |
Ranbp3l |
A |
G |
15: 8,997,925 (GRCm39) |
R6G |
possibly damaging |
Het |
Slco1a6 |
T |
A |
6: 142,042,141 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
G |
6: 48,428,707 (GRCm39) |
E374G |
possibly damaging |
Het |
Tg |
T |
C |
15: 66,711,210 (GRCm39) |
Y991H |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,933,309 (GRCm39) |
Y652H |
probably damaging |
Het |
Trpc4 |
G |
A |
3: 54,129,770 (GRCm39) |
V179I |
possibly damaging |
Het |
Xirp2 |
A |
G |
2: 67,343,446 (GRCm39) |
T1896A |
probably benign |
Het |
Zfhx3 |
T |
C |
8: 109,527,141 (GRCm39) |
Y1013H |
probably 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 |
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 |
R0070:Kansl1l
|
UTSW |
1 |
66,840,262 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-04-16 |