Incidental Mutation 'R1129:Kansl2'
| ID |
96515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kansl2
|
| Ensembl Gene |
ENSMUSG00000022992 |
| Gene Name |
KAT8 regulatory NSL complex subunit 2 |
| Synonyms |
2310037I24Rik |
| MMRRC Submission |
039202-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R1129 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
98415539-98432145 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98431462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 63
(Y63C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023727]
[ENSMUST00000116400]
[ENSMUST00000230542]
[ENSMUST00000231066]
|
| AlphaFold |
Q8BQR4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023727
AA Change: Y63C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023727
Gene: ENSMUSG00000022992
AA Change: Y63C
| 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 damaging
Transcript: ENSMUST00000116400
AA Change: Y63C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112101
Gene: ENSMUSG00000022992
AA Change: Y63C
| 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 damaging
Transcript: ENSMUST00000230542
AA Change: Y63C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231066
AA Change: Y63C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1 |
G |
C |
2: 179,814,712 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
A |
T |
2: 118,445,487 (GRCm39) |
D269V |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,822,535 (GRCm39) |
N828S |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,136,201 (GRCm39) |
S1152P |
unknown |
Het |
| Cnnm3 |
T |
C |
1: 36,552,097 (GRCm39) |
L369P |
probably damaging |
Het |
| Cxadr |
A |
G |
16: 78,133,321 (GRCm39) |
K360R |
probably benign |
Het |
| Dlg2 |
G |
A |
7: 92,080,382 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,238,635 (GRCm39) |
V3779A |
probably benign |
Het |
| Fbxo16 |
G |
A |
14: 65,532,981 (GRCm39) |
R161K |
probably benign |
Het |
| Gm9726 |
T |
A |
12: 93,895,300 (GRCm39) |
|
noncoding transcript |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,448,662 (GRCm39) |
T337A |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,744,226 (GRCm39) |
L1510S |
probably benign |
Het |
| Lats2 |
T |
C |
14: 57,937,790 (GRCm39) |
E233G |
possibly damaging |
Het |
| Naca |
T |
C |
10: 127,876,071 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
G |
T |
19: 46,052,245 (GRCm39) |
A591S |
probably benign |
Het |
| Sbsn |
C |
T |
7: 30,452,865 (GRCm39) |
P627S |
probably benign |
Het |
| Sema6b |
T |
C |
17: 56,431,347 (GRCm39) |
E772G |
probably benign |
Het |
| Tmem33 |
A |
G |
5: 67,421,803 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
A |
G |
14: 123,180,565 (GRCm39) |
|
probably null |
Het |
| Ubqlnl |
A |
T |
7: 103,798,857 (GRCm39) |
H213Q |
probably damaging |
Het |
| Ugt1a10 |
T |
C |
1: 87,983,331 (GRCm39) |
M43T |
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,712 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
A |
G |
8: 122,335,154 (GRCm39) |
|
probably benign |
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 |
|
R1128:Kansl2
|
UTSW |
15 |
98,431,566 (GRCm39) |
nonsense |
probably null |
|
|
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'- ACTCCAGCAAATTGGCCTCTGAC -3'
(R):5'- CCGCAGGTTTTGGCATGAACAG -3'
Sequencing Primer
(F):5'- gcctctgacctccccac -3'
(R):5'- TTGGCATGAACAGGATTCGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation