Incidental Mutation 'IGL02578:Kansl1l'
| ID |
299267 |
| 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 # |
IGL02578
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
66758407-66856721 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 66840848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 151
(Q151*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068168]
[ENSMUST00000113987]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068168
AA Change: Q151*
|
| SMART Domains |
Protein: ENSMUSP00000063843
Gene: ENSMUSG00000026004
AA Change: Q151*
| 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 null
Transcript: ENSMUST00000113987
AA Change: Q151*
|
| SMART Domains |
Protein: ENSMUSP00000109620
Gene: ENSMUSG00000026004
AA Change: Q151*
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
A |
7: 120,023,179 (GRCm39) |
|
probably null |
Het |
| Ago1 |
T |
A |
4: 126,333,324 (GRCm39) |
D545V |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,270,116 (GRCm39) |
S1410P |
probably benign |
Het |
| Cbfa2t3 |
T |
A |
8: 123,360,187 (GRCm39) |
D488V |
possibly damaging |
Het |
| Cdx2 |
T |
C |
5: 147,240,094 (GRCm39) |
D194G |
probably damaging |
Het |
| Cyp4a32 |
A |
G |
4: 115,466,939 (GRCm39) |
Q208R |
possibly damaging |
Het |
| Degs1 |
A |
C |
1: 182,106,592 (GRCm39) |
Y222* |
probably null |
Het |
| Dnah7a |
T |
A |
1: 53,472,074 (GRCm39) |
E3564D |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,250 (GRCm39) |
I906F |
possibly damaging |
Het |
| Elovl3 |
A |
G |
19: 46,123,132 (GRCm39) |
H236R |
possibly damaging |
Het |
| Foxp2 |
A |
G |
6: 15,376,814 (GRCm39) |
|
probably benign |
Het |
| Gm9892 |
A |
T |
8: 52,649,328 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
A |
G |
7: 55,756,283 (GRCm39) |
|
probably null |
Het |
| Hhat |
A |
G |
1: 192,376,221 (GRCm39) |
V304A |
probably damaging |
Het |
| Il16 |
C |
T |
7: 83,327,194 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
G |
T |
5: 25,571,198 (GRCm39) |
|
probably benign |
Het |
| Krt39 |
T |
C |
11: 99,412,032 (GRCm39) |
N18S |
probably benign |
Het |
| Lcor |
G |
T |
19: 41,547,589 (GRCm39) |
G391V |
probably damaging |
Het |
| Mical2 |
A |
T |
7: 111,950,580 (GRCm39) |
T845S |
probably benign |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Mphosph8 |
C |
T |
14: 56,911,667 (GRCm39) |
A230V |
probably benign |
Het |
| Myh2 |
T |
A |
11: 67,077,517 (GRCm39) |
M884K |
probably benign |
Het |
| Nlrp3 |
T |
C |
11: 59,439,227 (GRCm39) |
L268P |
probably damaging |
Het |
| Ntng1 |
T |
A |
3: 110,042,710 (GRCm39) |
T39S |
probably benign |
Het |
| Or10ag58 |
T |
A |
2: 87,265,401 (GRCm39) |
I190K |
probably damaging |
Het |
| Or1j14 |
A |
C |
2: 36,418,156 (GRCm39) |
H244P |
probably damaging |
Het |
| Or5al7 |
A |
T |
2: 85,993,073 (GRCm39) |
Y73* |
probably null |
Het |
| Pde4b |
T |
A |
4: 102,112,494 (GRCm39) |
M26K |
possibly damaging |
Het |
| Polh |
G |
A |
17: 46,505,218 (GRCm39) |
Q133* |
probably null |
Het |
| Postn |
A |
T |
3: 54,284,625 (GRCm39) |
N647I |
possibly damaging |
Het |
| Scimp |
T |
A |
11: 70,682,387 (GRCm39) |
I110F |
possibly damaging |
Het |
| Sell |
A |
G |
1: 163,893,165 (GRCm39) |
D127G |
probably damaging |
Het |
| Serpinb12 |
G |
A |
1: 106,883,220 (GRCm39) |
|
probably null |
Het |
| She |
A |
G |
3: 89,739,373 (GRCm39) |
E188G |
probably damaging |
Het |
| Shisal2a |
C |
T |
4: 108,225,225 (GRCm39) |
M112I |
probably benign |
Het |
| Slc22a1 |
T |
C |
17: 12,886,126 (GRCm39) |
Y169C |
probably damaging |
Het |
| Slco2a1 |
C |
T |
9: 102,923,957 (GRCm39) |
T57I |
probably damaging |
Het |
| Sox2 |
A |
T |
3: 34,704,745 (GRCm39) |
M61L |
probably benign |
Het |
| Sra1 |
G |
A |
18: 36,803,150 (GRCm39) |
Q32* |
probably null |
Het |
| Syne2 |
T |
A |
12: 76,069,053 (GRCm39) |
S4340T |
possibly damaging |
Het |
| Ucn |
A |
C |
5: 31,295,738 (GRCm39) |
W43G |
possibly damaging |
Het |
| Xdh |
C |
T |
17: 74,213,241 (GRCm39) |
M836I |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,341,591 (GRCm39) |
D1277E |
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 |
|
IGL02549:Kansl1l
|
APN |
1 |
66,841,127 (GRCm39) |
missense |
probably benign |
0.44 |
|
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 |
Incidental Mutation