Incidental Mutation 'R2310:Kansl3'
| ID |
328530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kansl3
|
| Ensembl Gene |
ENSMUSG00000010453 |
| Gene Name |
KAT8 regulatory NSL complex subunit 3 |
| Synonyms |
4632411B12Rik |
| MMRRC Submission |
040309-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R2310 (G1)
|
| Quality Score |
30 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
36374811-36408262 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36382445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 860
(I860F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010597]
[ENSMUST00000185912]
[ENSMUST00000186470]
[ENSMUST00000188961]
|
| AlphaFold |
A2RSY1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010597
AA Change: I834F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000010597
Gene: ENSMUSG00000010453
AA Change: I834F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
285 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_5
|
288 |
436 |
2e-9 |
PFAM |
|
low complexity region
|
523 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
732 |
N/A |
INTRINSIC |
|
low complexity region
|
735 |
751 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185912
AA Change: I735F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140547
Gene: ENSMUSG00000010453
AA Change: I735F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
186 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_5
|
189 |
337 |
9.3e-8 |
PFAM |
|
low complexity region
|
424 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
598 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
652 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186470
AA Change: I860F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140597
Gene: ENSMUSG00000010453
AA Change: I860F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
285 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_5
|
288 |
436 |
2.2e-9 |
PFAM |
|
low complexity region
|
523 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
723 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
777 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188961
|
| Meta Mutation Damage Score |
0.1828 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10l |
A |
C |
4: 140,320,429 (GRCm39) |
C136W |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,624,988 (GRCm39) |
H1625Q |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,081,826 (GRCm39) |
T451A |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Efhd1 |
T |
C |
1: 87,192,350 (GRCm39) |
L60P |
probably damaging |
Het |
| Flrt2 |
A |
G |
12: 95,746,864 (GRCm39) |
T401A |
probably benign |
Het |
| Frmd4a |
GAA |
G |
2: 4,577,210 (GRCm39) |
|
probably null |
Het |
| Gas2l2 |
A |
G |
11: 83,318,265 (GRCm39) |
V148A |
possibly damaging |
Het |
| Golga5 |
A |
G |
12: 102,458,420 (GRCm39) |
E621G |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,401,088 (GRCm39) |
R74* |
probably null |
Het |
| Intu |
C |
T |
3: 40,608,243 (GRCm39) |
A85V |
probably benign |
Het |
| Kif23 |
A |
G |
9: 61,831,426 (GRCm39) |
S715P |
probably damaging |
Het |
| Map3k8 |
A |
T |
18: 4,349,001 (GRCm39) |
C106S |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,564,433 (GRCm39) |
E934G |
probably damaging |
Het |
| Mrpl19 |
A |
T |
6: 81,941,054 (GRCm39) |
|
probably null |
Het |
| Msl3l2 |
C |
A |
10: 55,991,421 (GRCm39) |
R49S |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,217,444 (GRCm39) |
I2410F |
possibly damaging |
Het |
| Or2t6 |
A |
G |
14: 14,175,836 (GRCm38) |
V82A |
probably benign |
Het |
| Or4a73 |
A |
G |
2: 89,420,794 (GRCm39) |
S222P |
probably damaging |
Het |
| Pip5k1c |
T |
G |
10: 81,142,142 (GRCm39) |
S117R |
probably damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,690,841 (GRCm39) |
S561P |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,119,475 (GRCm39) |
|
probably null |
Het |
| Rassf5 |
A |
T |
1: 131,172,477 (GRCm39) |
W131R |
probably damaging |
Het |
| Shq1 |
C |
T |
6: 100,607,963 (GRCm39) |
W316* |
probably null |
Het |
| Slc45a4 |
A |
G |
15: 73,461,409 (GRCm39) |
Y87H |
probably damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,768,963 (GRCm39) |
D32G |
probably benign |
Het |
| Tjp1 |
C |
T |
7: 64,979,490 (GRCm39) |
R345Q |
possibly damaging |
Het |
| Tnrc18 |
C |
G |
5: 142,774,308 (GRCm39) |
V174L |
probably damaging |
Het |
| Trmt6 |
G |
T |
2: 132,650,832 (GRCm39) |
P259T |
probably damaging |
Het |
| Ubap1 |
T |
A |
4: 41,379,341 (GRCm39) |
V185E |
possibly damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,204,053 (GRCm39) |
T1979A |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,356,591 (GRCm39) |
D3784G |
probably benign |
Het |
| Zfp119a |
A |
T |
17: 56,172,440 (GRCm39) |
Y468N |
probably benign |
Het |
|
| Other mutations in Kansl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02220:Kansl3
|
APN |
1 |
36,407,070 (GRCm39) |
start gained |
probably benign |
|
|
IGL02277:Kansl3
|
APN |
1 |
36,388,028 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02423:Kansl3
|
APN |
1 |
36,391,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0147:Kansl3
|
UTSW |
1 |
36,392,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Kansl3
|
UTSW |
1 |
36,392,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Kansl3
|
UTSW |
1 |
36,384,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0279:Kansl3
|
UTSW |
1 |
36,391,050 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0349:Kansl3
|
UTSW |
1 |
36,390,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1452:Kansl3
|
UTSW |
1 |
36,393,874 (GRCm39) |
splice site |
probably benign |
|
|
R1599:Kansl3
|
UTSW |
1 |
36,406,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1842:Kansl3
|
UTSW |
1 |
36,390,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Kansl3
|
UTSW |
1 |
36,384,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4961:Kansl3
|
UTSW |
1 |
36,387,764 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5339:Kansl3
|
UTSW |
1 |
36,406,802 (GRCm39) |
intron |
probably benign |
|
|
R5400:Kansl3
|
UTSW |
1 |
36,397,230 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5564:Kansl3
|
UTSW |
1 |
36,385,045 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5661:Kansl3
|
UTSW |
1 |
36,388,038 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5965:Kansl3
|
UTSW |
1 |
36,384,601 (GRCm39) |
splice site |
probably null |
|
|
R6185:Kansl3
|
UTSW |
1 |
36,385,099 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6261:Kansl3
|
UTSW |
1 |
36,404,686 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6706:Kansl3
|
UTSW |
1 |
36,383,995 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7055:Kansl3
|
UTSW |
1 |
36,404,701 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7134:Kansl3
|
UTSW |
1 |
36,390,848 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7362:Kansl3
|
UTSW |
1 |
36,383,208 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7461:Kansl3
|
UTSW |
1 |
36,382,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Kansl3
|
UTSW |
1 |
36,404,668 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7613:Kansl3
|
UTSW |
1 |
36,382,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7775:Kansl3
|
UTSW |
1 |
36,387,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7778:Kansl3
|
UTSW |
1 |
36,387,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8345:Kansl3
|
UTSW |
1 |
36,387,897 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9017:Kansl3
|
UTSW |
1 |
36,393,861 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9285:Kansl3
|
UTSW |
1 |
36,383,148 (GRCm39) |
splice site |
probably benign |
|
|
R9286:Kansl3
|
UTSW |
1 |
36,387,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9287:Kansl3
|
UTSW |
1 |
36,388,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCCACATTTACCTAGGACTG -3'
(R):5'- TGGATTCAGCTCTGTGGAAC -3'
Sequencing Primer
(F):5'- ATTTACCTAGGACTGGAACCTGC -3'
(R):5'- CTGCCCTCAGAAAGGTCTAGAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation