Incidental Mutation 'R1311:Kansl2'
ID |
157948 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kansl2
|
Ensembl Gene |
ENSMUSG00000022992 |
Gene Name |
KAT8 regulatory NSL complex subunit 2 |
Synonyms |
2310037I24Rik |
MMRRC Submission |
039377-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.950)
|
Stock # |
R1311 (G1)
|
Quality Score |
140 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
98415539-98432145 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 98426797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 275
(H275N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023727]
[ENSMUST00000116400]
[ENSMUST00000230542]
[ENSMUST00000231066]
|
AlphaFold |
Q8BQR4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023727
AA Change: H275N
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000023727 Gene: ENSMUSG00000022992 AA Change: H275N
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 |
possibly damaging
Transcript: ENSMUST00000116400
AA Change: H275N
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112101 Gene: ENSMUSG00000022992 AA Change: H275N
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 |
possibly damaging
Transcript: ENSMUST00000230542
AA Change: H275N
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231066
|
Meta Mutation Damage Score |
0.2140 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.1%
- 20x: 86.2%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1c |
T |
C |
2: 58,170,261 (GRCm39) |
Q449R |
probably benign |
Het |
Cap1 |
A |
G |
4: 122,759,007 (GRCm39) |
Y195H |
possibly damaging |
Het |
Casp8ap2 |
T |
A |
4: 32,648,111 (GRCm39) |
N1939K |
probably damaging |
Het |
Cd209c |
T |
A |
8: 3,995,908 (GRCm39) |
M1L |
probably benign |
Het |
Ckb |
TCCACCACCA |
TCCACCA |
12: 111,636,079 (GRCm39) |
|
probably benign |
Het |
Col13a1 |
A |
G |
10: 61,699,789 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
T |
C |
9: 64,817,286 (GRCm39) |
V1640A |
probably benign |
Het |
Eml6 |
T |
C |
11: 29,781,088 (GRCm39) |
|
probably benign |
Het |
Fat3 |
G |
A |
9: 15,932,706 (GRCm39) |
T1409I |
probably damaging |
Het |
Gm4884 |
G |
C |
7: 40,692,539 (GRCm39) |
E169D |
possibly damaging |
Het |
Gm5709 |
T |
C |
3: 59,526,100 (GRCm39) |
|
noncoding transcript |
Het |
Htr2b |
C |
A |
1: 86,038,346 (GRCm39) |
A87S |
probably damaging |
Het |
Megf6 |
G |
A |
4: 154,348,239 (GRCm39) |
|
probably null |
Het |
Mtpn |
A |
G |
6: 35,489,185 (GRCm39) |
I113T |
possibly damaging |
Het |
Myh6 |
G |
T |
14: 55,183,822 (GRCm39) |
A1704E |
probably damaging |
Het |
Notum |
C |
T |
11: 120,546,575 (GRCm39) |
|
probably benign |
Het |
Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
Olfml1 |
T |
C |
7: 107,167,103 (GRCm39) |
|
probably null |
Het |
Or14c41 |
T |
A |
7: 86,235,161 (GRCm39) |
V226D |
probably damaging |
Het |
Ptpn5 |
A |
T |
7: 46,728,980 (GRCm39) |
|
probably benign |
Het |
Rapgef2 |
A |
G |
3: 78,990,854 (GRCm39) |
F985L |
probably benign |
Het |
Slc7a7 |
A |
T |
14: 54,610,487 (GRCm39) |
Y386* |
probably null |
Het |
Snph |
G |
T |
2: 151,439,122 (GRCm39) |
P36Q |
probably damaging |
Het |
St18 |
T |
C |
1: 6,915,868 (GRCm39) |
C838R |
probably damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Supt7l |
T |
C |
5: 31,677,605 (GRCm39) |
Y187C |
probably damaging |
Het |
Sycp2l |
A |
T |
13: 41,288,661 (GRCm39) |
K241* |
probably null |
Het |
Tenm2 |
G |
T |
11: 35,959,421 (GRCm39) |
|
probably benign |
Het |
Tfap4 |
A |
G |
16: 4,377,290 (GRCm39) |
|
probably null |
Het |
Tmem132e |
T |
C |
11: 82,335,122 (GRCm39) |
Y643H |
probably damaging |
Het |
Tmem200c |
A |
T |
17: 69,147,758 (GRCm39) |
S114C |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,679,342 (GRCm39) |
I4850T |
possibly damaging |
Het |
Zmym6 |
G |
T |
4: 127,017,151 (GRCm39) |
L977F |
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 |
R1128:Kansl2
|
UTSW |
15 |
98,431,566 (GRCm39) |
nonsense |
probably null |
|
R1129:Kansl2
|
UTSW |
15 |
98,431,462 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGGATTTCAAAGCCAGAACTGCTCG -3'
(R):5'- GCCGGTCTTACAGCTAACAAGTCTC -3'
Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- tgagaagctgaggctaggg -3'
|
Posted On |
2014-02-18 |