Incidental Mutation 'R2893:Kansl1l'
ID |
260644 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kansl1l
|
Ensembl Gene |
ENSMUSG00000026004 |
Gene Name |
KAT8 regulatory NSL complex subunit 1-like |
Synonyms |
1110028C15Rik, C430010P07Rik |
MMRRC Submission |
040481-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
R2893 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
66758407-66856721 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66840493 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 269
(Q269R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063843
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068168]
[ENSMUST00000113987]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068168
AA Change: Q269R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000063843 Gene: ENSMUSG00000026004 AA Change: Q269R
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 |
possibly damaging
Transcript: ENSMUST00000113987
AA Change: Q269R
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109620 Gene: ENSMUSG00000026004 AA Change: Q269R
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129190
|
SMART Domains |
Protein: ENSMUSP00000118603 Gene: ENSMUSG00000026004
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132960
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189846
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194465
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Abl1 |
T |
G |
2: 31,687,624 (GRCm39) |
S521R |
probably benign |
Het |
Acox3 |
A |
G |
5: 35,757,192 (GRCm39) |
I344V |
probably benign |
Het |
Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
Atoh8 |
A |
T |
6: 72,211,856 (GRCm39) |
F98Y |
probably benign |
Het |
Caskin2 |
C |
T |
11: 115,692,103 (GRCm39) |
G894E |
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Cdk5rap2 |
T |
C |
4: 70,208,110 (GRCm39) |
K779E |
probably benign |
Het |
Csmd2 |
T |
A |
4: 128,432,786 (GRCm39) |
|
probably null |
Het |
Cubn |
T |
C |
2: 13,362,950 (GRCm39) |
D1687G |
possibly damaging |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Faap100 |
T |
C |
11: 120,265,451 (GRCm39) |
D475G |
probably damaging |
Het |
Fhip2a |
C |
T |
19: 57,372,601 (GRCm39) |
P617L |
probably benign |
Het |
Gm13090 |
T |
A |
4: 151,175,157 (GRCm39) |
L78* |
probably null |
Het |
Ikbke |
G |
A |
1: 131,197,961 (GRCm39) |
P382S |
probably damaging |
Het |
Il4i1 |
A |
G |
7: 44,487,414 (GRCm39) |
I130V |
probably damaging |
Het |
Islr2 |
A |
T |
9: 58,105,149 (GRCm39) |
S704T |
probably damaging |
Het |
Itga10 |
A |
G |
3: 96,562,416 (GRCm39) |
N733D |
probably benign |
Het |
Itih2 |
C |
T |
2: 10,107,008 (GRCm39) |
G662D |
possibly damaging |
Het |
Kcnj3 |
A |
T |
2: 55,337,027 (GRCm39) |
I298F |
probably damaging |
Het |
Kdr |
A |
G |
5: 76,107,496 (GRCm39) |
F1016L |
probably damaging |
Het |
Miga2 |
A |
T |
2: 30,268,306 (GRCm39) |
|
probably null |
Het |
Or51ai2 |
A |
T |
7: 103,587,389 (GRCm39) |
R267S |
probably damaging |
Het |
Per2 |
C |
A |
1: 91,373,325 (GRCm39) |
Q154H |
probably damaging |
Het |
Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Psma5-ps |
T |
C |
10: 85,149,848 (GRCm39) |
|
noncoding transcript |
Het |
Rad18 |
G |
A |
6: 112,652,734 (GRCm39) |
Q288* |
probably null |
Het |
Rapsn |
A |
T |
2: 90,867,169 (GRCm39) |
D157V |
probably damaging |
Het |
Slc2a8 |
A |
T |
2: 32,864,966 (GRCm39) |
W394R |
probably damaging |
Het |
Srcap |
T |
C |
7: 127,138,237 (GRCm39) |
S1136P |
probably damaging |
Het |
Tenm4 |
T |
A |
7: 96,544,197 (GRCm39) |
V2108D |
probably damaging |
Het |
Trappc10 |
C |
T |
10: 78,029,235 (GRCm39) |
V1101M |
probably benign |
Het |
Ttbk2 |
C |
A |
2: 120,576,091 (GRCm39) |
|
probably null |
Het |
Usp8 |
A |
T |
2: 126,600,075 (GRCm39) |
Q998L |
probably damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r80 |
T |
C |
10: 78,984,699 (GRCm39) |
F17S |
possibly damaging |
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 |
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 |
R6051:Kansl1l
|
UTSW |
1 |
66,765,885 (GRCm39) |
missense |
probably null |
1.00 |
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'- ATGAGACAACAGCCCTGTAGC -3'
(R):5'- ACCTAGCCACTCAGATGTGC -3'
Sequencing Primer
(F):5'- CAGACAGTGCAAATCTTTGGATTTC -3'
(R):5'- TAGCCACTCAGATGTGCCTACTAG -3'
|
Posted On |
2015-01-23 |