Incidental Mutation 'R5840:Kansl1l'
| ID |
450350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kansl1l
|
| Ensembl Gene |
ENSMUSG00000026004 |
| Gene Name |
KAT8 regulatory NSL complex subunit 1-like |
| Synonyms |
1110028C15Rik, C430010P07Rik |
| MMRRC Submission |
044060-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R5840 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
66758407-66856721 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 66809374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068168]
[ENSMUST00000113987]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068168
|
| SMART Domains |
Protein: ENSMUSP00000063843
Gene: ENSMUSG00000026004
| 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 benign
Transcript: ENSMUST00000113987
|
| SMART Domains |
Protein: ENSMUSP00000109620
Gene: ENSMUSG00000026004
| 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: ENSMUST00000191945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195411
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 96.5%
- 20x: 88.1%
|
| Validation Efficiency |
99% (75/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
A |
2: 25,323,371 (GRCm39) |
R113Q |
probably benign |
Het |
| Aip |
G |
A |
19: 4,166,010 (GRCm39) |
P147L |
possibly damaging |
Het |
| Anapc1 |
A |
C |
2: 128,448,957 (GRCm39) |
|
probably benign |
Het |
| Arhgap42 |
C |
T |
9: 9,046,518 (GRCm39) |
V240I |
possibly damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,176,528 (GRCm39) |
E684G |
probably damaging |
Het |
| BC005624 |
G |
A |
2: 30,871,869 (GRCm39) |
R2W |
probably benign |
Het |
| Cd177 |
T |
G |
7: 24,457,495 (GRCm39) |
Q182P |
probably damaging |
Het |
| Cdca5 |
G |
A |
19: 6,140,399 (GRCm39) |
E187K |
possibly damaging |
Het |
| Chmp1a |
T |
C |
8: 123,934,839 (GRCm39) |
Q39R |
probably benign |
Het |
| Dab2ip |
A |
G |
2: 35,617,511 (GRCm39) |
I1079V |
probably damaging |
Het |
| Dip2c |
A |
T |
13: 9,556,712 (GRCm39) |
E85D |
possibly damaging |
Het |
| Elmo2 |
A |
T |
2: 165,137,472 (GRCm39) |
S497R |
possibly damaging |
Het |
| Ephb6 |
C |
T |
6: 41,592,507 (GRCm39) |
A339V |
possibly damaging |
Het |
| Foxred1 |
T |
C |
9: 35,121,435 (GRCm39) |
K38E |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,555,342 (GRCm39) |
T1732S |
probably damaging |
Het |
| Fto |
A |
G |
8: 92,393,068 (GRCm39) |
|
probably benign |
Het |
| Gm17430 |
T |
A |
18: 9,726,528 (GRCm39) |
Q48L |
probably damaging |
Het |
| Gng2 |
A |
G |
14: 19,925,882 (GRCm39) |
I70T |
probably damaging |
Het |
| Gtf2a2 |
A |
G |
9: 69,922,575 (GRCm39) |
|
probably benign |
Het |
| Invs |
A |
G |
4: 48,396,284 (GRCm39) |
D263G |
probably damaging |
Het |
| Itga2b |
C |
T |
11: 102,352,157 (GRCm39) |
V475M |
probably damaging |
Het |
| Klhl25 |
T |
C |
7: 75,516,440 (GRCm39) |
F449L |
possibly damaging |
Het |
| Lamb1 |
T |
A |
12: 31,316,755 (GRCm39) |
C83S |
probably damaging |
Het |
| Loxl4 |
G |
T |
19: 42,587,154 (GRCm39) |
T648K |
probably damaging |
Het |
| Lrit2 |
T |
C |
14: 36,790,962 (GRCm39) |
F214L |
possibly damaging |
Het |
| N4bp2 |
T |
G |
5: 65,965,437 (GRCm39) |
L1162R |
probably damaging |
Het |
| Naa40 |
A |
T |
19: 7,207,373 (GRCm39) |
I117N |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 27,006,054 (GRCm39) |
S1492P |
probably benign |
Het |
| Nf2 |
T |
A |
11: 4,766,146 (GRCm39) |
D128V |
probably benign |
Het |
| Nox4 |
T |
C |
7: 87,010,001 (GRCm39) |
S401P |
probably benign |
Het |
| Nt5c1b |
T |
C |
12: 10,427,171 (GRCm39) |
V323A |
probably damaging |
Het |
| Or52a33 |
C |
T |
7: 103,288,463 (GRCm39) |
V295I |
probably benign |
Het |
| Or52s19 |
T |
A |
7: 103,007,576 (GRCm39) |
H275L |
probably damaging |
Het |
| Or5b118 |
G |
A |
19: 13,449,242 (GRCm39) |
V303I |
probably benign |
Het |
| Pcdhb14 |
T |
C |
18: 37,581,803 (GRCm39) |
V303A |
probably benign |
Het |
| Pde8a |
C |
A |
7: 80,863,713 (GRCm39) |
H17Q |
probably benign |
Het |
| Pfkl |
C |
T |
10: 77,824,558 (GRCm39) |
V716I |
probably benign |
Het |
| Phc3 |
G |
A |
3: 30,990,732 (GRCm39) |
S495L |
possibly damaging |
Het |
| Psg18 |
A |
G |
7: 18,080,527 (GRCm39) |
|
probably benign |
Het |
| Rcc2 |
T |
G |
4: 140,439,449 (GRCm39) |
N175K |
possibly damaging |
Het |
| Rhot2 |
G |
A |
17: 26,059,032 (GRCm39) |
T276I |
probably benign |
Het |
| Rnase9 |
A |
T |
14: 51,276,445 (GRCm39) |
Y178N |
probably benign |
Het |
| Sema4b |
T |
C |
7: 79,868,697 (GRCm39) |
C297R |
probably damaging |
Het |
| Slc35d2 |
T |
C |
13: 64,266,227 (GRCm39) |
|
probably null |
Het |
| Sptlc3 |
A |
T |
2: 139,389,126 (GRCm39) |
N169Y |
probably damaging |
Het |
| Srsf9 |
T |
G |
5: 115,469,524 (GRCm39) |
M29R |
probably benign |
Het |
| Stip1 |
C |
A |
19: 6,999,436 (GRCm39) |
D449Y |
possibly damaging |
Het |
| Syne2 |
T |
A |
12: 75,927,065 (GRCm39) |
|
probably null |
Het |
| Tgm5 |
A |
G |
2: 120,916,141 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
A |
T |
17: 14,901,692 (GRCm39) |
|
probably null |
Het |
| Trak2 |
T |
C |
1: 58,958,432 (GRCm39) |
E283G |
probably damaging |
Het |
| Trbv21 |
A |
G |
6: 41,179,792 (GRCm39) |
Y36C |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,664,531 (GRCm39) |
Y949* |
probably null |
Het |
| Ubqln5 |
T |
C |
7: 103,778,161 (GRCm39) |
D221G |
possibly damaging |
Het |
| Ubxn4 |
T |
A |
1: 128,187,262 (GRCm39) |
V85D |
possibly damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,600 (GRCm39) |
W162R |
probably benign |
Het |
| Vrk2 |
A |
G |
11: 26,484,314 (GRCm39) |
|
probably benign |
Het |
| Zc3h8 |
A |
C |
2: 128,771,824 (GRCm39) |
D276E |
probably benign |
Het |
| Zfp369 |
C |
T |
13: 65,445,092 (GRCm39) |
T745I |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,031,978 (GRCm39) |
K654R |
probably 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 |
|
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 |
|
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'- GGAGTTTCCTTACTACAGCACAG -3'
(R):5'- CACCATGCCAATATGCTTTGC -3'
Sequencing Primer
(F):5'- ACTACAGCACAGATATTTCTTCTGC -3'
(R):5'- CCATTCCCGGTATGATAGAAACTGG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation