Incidental Mutation 'IGL00822:Kansl2'
| ID |
11536 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kansl2
|
| Ensembl Gene |
ENSMUSG00000022992 |
| Gene Name |
KAT8 regulatory NSL complex subunit 2 |
| Synonyms |
2310037I24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
IGL00822
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
98415539-98432145 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 98426734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023727]
[ENSMUST00000116400]
[ENSMUST00000230542]
[ENSMUST00000231066]
|
| AlphaFold |
Q8BQR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023727
|
| SMART Domains |
Protein: ENSMUSP00000023727
Gene: ENSMUSG00000022992
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C3Hc3H
|
27 |
93 |
4.8e-19 |
PFAM |
|
Pfam:zf-C3Hc3H
|
300 |
365 |
4.6e-19 |
PFAM |
|
low complexity region
|
408 |
420 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000084005
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116400
|
| SMART Domains |
Protein: ENSMUSP00000112101
Gene: ENSMUSG00000022992
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C3Hc3H
|
28 |
92 |
1e-19 |
PFAM |
|
Pfam:zf-C3Hc3H
|
302 |
364 |
1.7e-16 |
PFAM |
|
low complexity region
|
442 |
454 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230542
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231066
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
C |
8: 60,988,792 (GRCm39) |
S332P |
probably benign |
Het |
| Abcb4 |
T |
C |
5: 9,000,046 (GRCm39) |
F1005L |
probably benign |
Het |
| Actr2 |
G |
A |
11: 20,044,367 (GRCm39) |
R80W |
probably damaging |
Het |
| Adck1 |
T |
C |
12: 88,422,286 (GRCm39) |
I299T |
probably damaging |
Het |
| Camk2g |
C |
T |
14: 20,787,398 (GRCm39) |
G500S |
probably damaging |
Het |
| Car15 |
A |
T |
16: 17,654,498 (GRCm39) |
M146K |
probably damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,689,806 (GRCm39) |
N84S |
probably benign |
Het |
| Dock8 |
G |
T |
19: 25,165,773 (GRCm39) |
E1886* |
probably null |
Het |
| Klc2 |
A |
T |
19: 5,161,541 (GRCm39) |
V323E |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,891,111 (GRCm39) |
V352A |
probably damaging |
Het |
| Lrrc8c |
G |
T |
5: 105,756,174 (GRCm39) |
A650S |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,458,316 (GRCm39) |
Y299C |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,252,154 (GRCm39) |
T1421A |
probably damaging |
Het |
| Myl3 |
C |
A |
9: 110,595,557 (GRCm39) |
T56K |
possibly damaging |
Het |
| Nod1 |
T |
C |
6: 54,921,931 (GRCm39) |
Y129C |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,181,817 (GRCm39) |
L836M |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,945,304 (GRCm39) |
S2187N |
probably benign |
Het |
| Pank4 |
G |
A |
4: 155,065,059 (GRCm39) |
R786H |
possibly damaging |
Het |
| Sag |
A |
G |
1: 87,772,748 (GRCm39) |
|
probably null |
Het |
| Scn2b |
G |
A |
9: 45,036,842 (GRCm39) |
V117M |
probably damaging |
Het |
| Sec16b |
G |
T |
1: 157,392,125 (GRCm39) |
A886S |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Spns3 |
A |
T |
11: 72,390,179 (GRCm39) |
|
probably null |
Het |
| Styk1 |
T |
C |
6: 131,278,625 (GRCm39) |
K350E |
possibly damaging |
Het |
| Tns3 |
G |
A |
11: 8,393,976 (GRCm39) |
T1291I |
probably damaging |
Het |
| Xntrpc |
A |
G |
7: 101,733,575 (GRCm39) |
I175V |
probably damaging |
Het |
| Zfp106 |
G |
A |
2: 120,344,641 (GRCm39) |
R1745C |
probably damaging |
Het |
|
| Other mutations in Kansl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02167:Kansl2
|
APN |
15 |
98,431,396 (GRCm39) |
splice site |
probably benign |
|
|
IGL02349:Kansl2
|
APN |
15 |
98,427,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0004:Kansl2
|
UTSW |
15 |
98,418,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1128:Kansl2
|
UTSW |
15 |
98,431,566 (GRCm39) |
nonsense |
probably null |
|
|
R1129:Kansl2
|
UTSW |
15 |
98,431,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1311:Kansl2
|
UTSW |
15 |
98,426,797 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2132:Kansl2
|
UTSW |
15 |
98,427,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Kansl2
|
UTSW |
15 |
98,424,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2232:Kansl2
|
UTSW |
15 |
98,422,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Kansl2
|
UTSW |
15 |
98,426,742 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3433:Kansl2
|
UTSW |
15 |
98,426,742 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4125:Kansl2
|
UTSW |
15 |
98,429,636 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4818:Kansl2
|
UTSW |
15 |
98,424,542 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4906:Kansl2
|
UTSW |
15 |
98,429,771 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4962:Kansl2
|
UTSW |
15 |
98,429,724 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5973:Kansl2
|
UTSW |
15 |
98,427,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6014:Kansl2
|
UTSW |
15 |
98,418,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6077:Kansl2
|
UTSW |
15 |
98,429,312 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6657:Kansl2
|
UTSW |
15 |
98,422,551 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7168:Kansl2
|
UTSW |
15 |
98,427,425 (GRCm39) |
splice site |
probably null |
|
|
R7418:Kansl2
|
UTSW |
15 |
98,429,775 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7530:Kansl2
|
UTSW |
15 |
98,426,896 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7957:Kansl2
|
UTSW |
15 |
98,422,499 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2012-12-06 |
Incidental Mutation