Incidental Mutation 'R6051:Kansl1l'
| ID |
484068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kansl1l
|
| Ensembl Gene |
ENSMUSG00000026004 |
| Gene Name |
KAT8 regulatory NSL complex subunit 1-like |
| Synonyms |
1110028C15Rik, C430010P07Rik |
| MMRRC Submission |
044219-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R6051 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
66758407-66856721 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66765885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 704
(N704K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068168]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068168
AA Change: N704K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063843
Gene: ENSMUSG00000026004
AA Change: N704K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
535 |
N/A |
INTRINSIC |
|
PEHE
|
755 |
875 |
2.42e-33 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000129190
AA Change: N403K
|
| SMART Domains |
Protein: ENSMUSP00000118603
Gene: ENSMUSG00000026004
AA Change: N403K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
191 |
N/A |
INTRINSIC |
|
PEHE
|
455 |
575 |
2.42e-33 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,231,304 (GRCm39) |
A1021S |
possibly damaging |
Het |
| Abl2 |
A |
G |
1: 156,469,655 (GRCm39) |
D869G |
probably damaging |
Het |
| Adamts9 |
G |
A |
6: 92,836,907 (GRCm39) |
A615V |
possibly damaging |
Het |
| Adamts9 |
A |
G |
6: 92,867,099 (GRCm39) |
Y96H |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,640,345 (GRCm39) |
I238T |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,790,422 (GRCm39) |
H1587Q |
possibly damaging |
Het |
| BB014433 |
T |
C |
8: 15,092,179 (GRCm39) |
T225A |
possibly damaging |
Het |
| Bcas2 |
T |
C |
3: 103,081,657 (GRCm39) |
Y87H |
possibly damaging |
Het |
| Brca1 |
C |
T |
11: 101,415,072 (GRCm39) |
E160K |
probably damaging |
Het |
| Cd2ap |
T |
C |
17: 43,107,219 (GRCm39) |
*638W |
probably null |
Het |
| Chd2 |
A |
T |
7: 73,085,590 (GRCm39) |
D1681E |
probably benign |
Het |
| Cit |
C |
T |
5: 115,984,464 (GRCm39) |
P12L |
probably benign |
Het |
| Cracdl |
G |
T |
1: 37,663,306 (GRCm39) |
P864Q |
probably damaging |
Het |
| Crisp1 |
T |
C |
17: 40,616,017 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,049,610 (GRCm39) |
D46G |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,500,971 (GRCm39) |
V387D |
probably damaging |
Het |
| E130311K13Rik |
T |
C |
3: 63,823,062 (GRCm39) |
H194R |
probably benign |
Het |
| Egfr |
C |
A |
11: 16,833,607 (GRCm39) |
T625N |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 16,286,751 (GRCm39) |
V924A |
possibly damaging |
Het |
| Fgd6 |
T |
C |
10: 93,973,427 (GRCm39) |
|
probably null |
Het |
| Galnt6 |
A |
T |
15: 100,592,549 (GRCm39) |
C553S |
probably damaging |
Het |
| Gm5617 |
T |
C |
9: 48,407,187 (GRCm39) |
L107P |
possibly damaging |
Het |
| Hectd1 |
G |
T |
12: 51,800,887 (GRCm39) |
T2035N |
probably benign |
Het |
| Hp1bp3 |
A |
G |
4: 137,961,615 (GRCm39) |
T154A |
possibly damaging |
Het |
| Il10rb |
A |
G |
16: 91,218,752 (GRCm39) |
T262A |
probably benign |
Het |
| Kbtbd12 |
T |
C |
6: 88,594,930 (GRCm39) |
D300G |
possibly damaging |
Het |
| Lama4 |
G |
A |
10: 38,943,898 (GRCm39) |
A734T |
probably benign |
Het |
| Mllt6 |
G |
T |
11: 97,571,569 (GRCm39) |
G1069* |
probably null |
Het |
| Mns1 |
T |
C |
9: 72,356,735 (GRCm39) |
L302P |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,365,594 (GRCm39) |
C2039S |
possibly damaging |
Het |
| Myof |
A |
G |
19: 38,012,809 (GRCm39) |
L42P |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,900,685 (GRCm39) |
L868S |
probably damaging |
Het |
| Ndc80 |
C |
T |
17: 71,824,573 (GRCm39) |
G212E |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,581,657 (GRCm39) |
H610R |
probably benign |
Het |
| Nufip2 |
T |
A |
11: 77,582,742 (GRCm39) |
Y219N |
probably damaging |
Het |
| Or51m1 |
T |
C |
7: 103,578,084 (GRCm39) |
F18S |
probably damaging |
Het |
| Pbxip1 |
T |
C |
3: 89,350,477 (GRCm39) |
S41P |
probably benign |
Het |
| Phactr2 |
A |
T |
10: 13,137,555 (GRCm39) |
C196S |
probably null |
Het |
| Ppp3ca |
T |
A |
3: 136,581,883 (GRCm39) |
Y140N |
probably damaging |
Het |
| Ptprb |
C |
A |
10: 116,176,995 (GRCm39) |
Y1260* |
probably null |
Het |
| Rap1a |
C |
T |
3: 105,657,613 (GRCm39) |
R2H |
possibly damaging |
Het |
| Rbbp8 |
G |
A |
18: 11,871,664 (GRCm39) |
V794I |
probably benign |
Het |
| Rbks |
T |
C |
5: 31,809,163 (GRCm39) |
N200S |
probably damaging |
Het |
| Relch |
G |
T |
1: 105,648,997 (GRCm39) |
G712V |
probably damaging |
Het |
| Rnf186 |
G |
T |
4: 138,695,277 (GRCm39) |
K272N |
probably damaging |
Het |
| Rtl1 |
G |
A |
12: 109,559,458 (GRCm39) |
P794S |
probably damaging |
Het |
| Tbc1d30 |
T |
A |
10: 121,132,750 (GRCm39) |
I205F |
probably damaging |
Het |
| Tkt |
C |
T |
14: 30,290,153 (GRCm39) |
P261S |
probably benign |
Het |
| Trp53 |
G |
A |
11: 69,480,434 (GRCm39) |
R267H |
possibly damaging |
Het |
| Ttc14 |
T |
C |
3: 33,863,073 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,737,805 (GRCm39) |
S4245P |
probably benign |
Het |
| Vmn1r75 |
A |
T |
7: 11,614,978 (GRCm39) |
I237F |
probably damaging |
Het |
| Vmn2r57 |
T |
A |
7: 41,097,896 (GRCm39) |
H57L |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,960,809 (GRCm39) |
N40S |
possibly damaging |
Het |
| Xcr1 |
A |
T |
9: 123,685,181 (GRCm39) |
F194I |
probably benign |
Het |
| Zmiz1 |
T |
A |
14: 25,572,494 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Kansl1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00576:Kansl1l
|
APN |
1 |
66,763,733 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL00825:Kansl1l
|
APN |
1 |
66,840,671 (GRCm39) |
missense |
probably benign |
|
|
IGL01644:Kansl1l
|
APN |
1 |
66,840,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01690:Kansl1l
|
APN |
1 |
66,840,232 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01811:Kansl1l
|
APN |
1 |
66,762,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01966:Kansl1l
|
APN |
1 |
66,777,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02549:Kansl1l
|
APN |
1 |
66,841,127 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02578:Kansl1l
|
APN |
1 |
66,840,848 (GRCm39) |
nonsense |
probably null |
|
|
IGL02707:Kansl1l
|
APN |
1 |
66,812,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Kansl1l
|
APN |
1 |
66,774,884 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03187:Kansl1l
|
APN |
1 |
66,765,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03279:Kansl1l
|
APN |
1 |
66,774,825 (GRCm39) |
missense |
probably damaging |
0.99 |
|
arkansasii
|
UTSW |
1 |
66,801,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Kansasii
|
UTSW |
1 |
66,817,265 (GRCm39) |
missense |
probably null |
0.41 |
|
PIT4810001:Kansl1l
|
UTSW |
1 |
66,801,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Kansl1l
|
UTSW |
1 |
66,760,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0068:Kansl1l
|
UTSW |
1 |
66,760,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0070:Kansl1l
|
UTSW |
1 |
66,840,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0312:Kansl1l
|
UTSW |
1 |
66,817,265 (GRCm39) |
missense |
probably null |
0.41 |
|
R0456:Kansl1l
|
UTSW |
1 |
66,774,885 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0720:Kansl1l
|
UTSW |
1 |
66,840,515 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1381:Kansl1l
|
UTSW |
1 |
66,760,063 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1470:Kansl1l
|
UTSW |
1 |
66,841,156 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1470:Kansl1l
|
UTSW |
1 |
66,841,156 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1759:Kansl1l
|
UTSW |
1 |
66,841,047 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1840:Kansl1l
|
UTSW |
1 |
66,817,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2299:Kansl1l
|
UTSW |
1 |
66,812,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2888:Kansl1l
|
UTSW |
1 |
66,763,764 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2893:Kansl1l
|
UTSW |
1 |
66,840,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3735:Kansl1l
|
UTSW |
1 |
66,840,409 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4249:Kansl1l
|
UTSW |
1 |
66,812,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4448:Kansl1l
|
UTSW |
1 |
66,777,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4710:Kansl1l
|
UTSW |
1 |
66,840,655 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4768:Kansl1l
|
UTSW |
1 |
66,840,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5523:Kansl1l
|
UTSW |
1 |
66,841,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5645:Kansl1l
|
UTSW |
1 |
66,840,503 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5840:Kansl1l
|
UTSW |
1 |
66,809,374 (GRCm39) |
intron |
probably benign |
|
|
R5964:Kansl1l
|
UTSW |
1 |
66,765,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5990:Kansl1l
|
UTSW |
1 |
66,774,885 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6009:Kansl1l
|
UTSW |
1 |
66,774,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6092:Kansl1l
|
UTSW |
1 |
66,812,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6316:Kansl1l
|
UTSW |
1 |
66,774,744 (GRCm39) |
missense |
probably benign |
|
|
R6402:Kansl1l
|
UTSW |
1 |
66,801,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6906:Kansl1l
|
UTSW |
1 |
66,762,437 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7241:Kansl1l
|
UTSW |
1 |
66,840,787 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7434:Kansl1l
|
UTSW |
1 |
66,801,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7716:Kansl1l
|
UTSW |
1 |
66,840,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7793:Kansl1l
|
UTSW |
1 |
66,817,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8187:Kansl1l
|
UTSW |
1 |
66,840,896 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8972:Kansl1l
|
UTSW |
1 |
66,812,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9347:Kansl1l
|
UTSW |
1 |
66,840,347 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9386:Kansl1l
|
UTSW |
1 |
66,765,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9749:Kansl1l
|
UTSW |
1 |
66,760,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9750:Kansl1l
|
UTSW |
1 |
66,817,150 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTGGATGTTAGACATGGTCATAAG -3'
(R):5'- AGCTCAATTCCCTGTCACTG -3'
Sequencing Primer
(F):5'- CCCATTACTATTTCCTAATGAGACAG -3'
(R):5'- AATTCCCTGTCACTGATTTGGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation