Incidental Mutation 'R1128:Kansl2'
| ID |
96430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kansl2
|
| Ensembl Gene |
ENSMUSG00000022992 |
| Gene Name |
KAT8 regulatory NSL complex subunit 2 |
| Synonyms |
2310037I24Rik |
| MMRRC Submission |
039201-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R1128 (G1)
|
| Quality Score |
212 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
98415539-98432145 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 98431566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 28
(C28*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023727]
[ENSMUST00000116400]
[ENSMUST00000230542]
[ENSMUST00000231066]
|
| AlphaFold |
Q8BQR4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023727
AA Change: C28*
|
| SMART Domains |
Protein: ENSMUSP00000023727
Gene: ENSMUSG00000022992
AA Change: C28*
| 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 |
probably null
Transcript: ENSMUST00000116400
AA Change: C28*
|
| SMART Domains |
Protein: ENSMUSP00000112101
Gene: ENSMUSG00000022992
AA Change: C28*
| 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 null
Transcript: ENSMUST00000230542
AA Change: C28*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231066
AA Change: C28*
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Amhr2 |
A |
T |
15: 102,361,256 (GRCm39) |
Q402L |
probably benign |
Het |
| Brip1 |
A |
T |
11: 85,955,763 (GRCm39) |
L917M |
possibly damaging |
Het |
| Dennd5a |
G |
A |
7: 109,520,541 (GRCm39) |
R415* |
probably null |
Het |
| Eif2ak1 |
G |
T |
5: 143,835,994 (GRCm39) |
|
probably null |
Het |
| Golga4 |
G |
A |
9: 118,377,852 (GRCm39) |
A458T |
probably benign |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Ift88 |
C |
T |
14: 57,754,476 (GRCm39) |
R762* |
probably null |
Het |
| Lct |
T |
C |
1: 128,229,046 (GRCm39) |
R816G |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,919,769 (GRCm39) |
N6809S |
probably null |
Het |
| Pak6 |
A |
G |
2: 118,526,990 (GRCm39) |
T662A |
probably benign |
Het |
| Pglyrp3 |
T |
C |
3: 91,935,479 (GRCm39) |
F243S |
probably benign |
Het |
| Rab44 |
T |
C |
17: 29,359,435 (GRCm39) |
V541A |
possibly damaging |
Het |
| Slc39a6 |
G |
T |
18: 24,718,349 (GRCm39) |
H569Q |
probably damaging |
Het |
| Slc4a7 |
T |
C |
14: 14,733,832 (GRCm38) |
S87P |
probably damaging |
Het |
| Spocd1 |
T |
C |
4: 129,850,599 (GRCm39) |
V875A |
possibly damaging |
Het |
| Tspan17 |
A |
G |
13: 54,942,984 (GRCm39) |
D146G |
probably damaging |
Het |
|
| Other mutations in Kansl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00822:Kansl2
|
APN |
15 |
98,426,734 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTAAGAACGACTCTCGGAGCCC -3'
(R):5'- AAGATGGCGCTTGTAGGACGAC -3'
Sequencing Primer
(F):5'- ACTCTCGGAGCCCGAAGG -3'
(R):5'- GGCCAACGTGGTAgggg -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation