Incidental Mutation 'R5523:Kansl1l'
| ID |
431643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kansl1l
|
| Ensembl Gene |
ENSMUSG00000026004 |
| Gene Name |
KAT8 regulatory NSL complex subunit 1-like |
| Synonyms |
1110028C15Rik, C430010P07Rik |
| MMRRC Submission |
043265-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R5523 (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 66841271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 10
(T10A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068168]
[ENSMUST00000113987]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068168
AA Change: T10A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000063843
Gene: ENSMUSG00000026004
AA Change: T10A
| 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
AA Change: T10A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109620
Gene: ENSMUSG00000026004
AA Change: T10A
| 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: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
G |
A |
3: 153,644,273 (GRCm39) |
T70M |
probably benign |
Het |
| Adamtsl3 |
G |
A |
7: 82,223,650 (GRCm39) |
A218T |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,741,642 (GRCm39) |
D810G |
probably damaging |
Het |
| Ak7 |
T |
A |
12: 105,707,341 (GRCm39) |
L315* |
probably null |
Het |
| Apoa5 |
T |
C |
9: 46,181,887 (GRCm39) |
F321S |
possibly damaging |
Het |
| Baiap2l1 |
G |
C |
5: 144,212,768 (GRCm39) |
P416A |
probably damaging |
Het |
| Bco1 |
A |
G |
8: 117,835,432 (GRCm39) |
I128V |
possibly damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,717,905 (GRCm39) |
|
probably benign |
Het |
| Cdt1 |
G |
A |
8: 123,294,832 (GRCm39) |
R13H |
possibly damaging |
Het |
| Cenpj |
A |
G |
14: 56,789,880 (GRCm39) |
V723A |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,685,675 (GRCm39) |
W849R |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,267,192 (GRCm39) |
D169G |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,772 (GRCm39) |
V334A |
probably damaging |
Het |
| Cyp4f39 |
C |
A |
17: 32,689,807 (GRCm39) |
N84K |
probably benign |
Het |
| Cyp4f40 |
T |
A |
17: 32,888,796 (GRCm39) |
F192I |
probably damaging |
Het |
| Disp3 |
T |
C |
4: 148,342,554 (GRCm39) |
D632G |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Echs1 |
G |
T |
7: 139,692,426 (GRCm39) |
T107K |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Ergic1 |
G |
A |
17: 26,843,580 (GRCm39) |
V17I |
probably damaging |
Het |
| Fank1 |
G |
T |
7: 133,478,569 (GRCm39) |
C210F |
probably damaging |
Het |
| Fbxo15 |
T |
G |
18: 84,978,194 (GRCm39) |
M136R |
probably damaging |
Het |
| Ggcx |
C |
A |
6: 72,401,017 (GRCm39) |
P240H |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,227,608 (GRCm39) |
R1516G |
probably benign |
Het |
| Gprin3 |
G |
A |
6: 59,330,931 (GRCm39) |
Q459* |
probably null |
Het |
| Hadha |
C |
A |
5: 30,350,252 (GRCm39) |
V99F |
possibly damaging |
Het |
| Hirip3 |
A |
G |
7: 126,463,034 (GRCm39) |
D330G |
possibly damaging |
Het |
| Irx2 |
T |
C |
13: 72,779,714 (GRCm39) |
W333R |
probably damaging |
Het |
| Kcnd2 |
T |
C |
6: 21,723,211 (GRCm39) |
I467T |
probably benign |
Het |
| Klc3 |
A |
T |
7: 19,130,932 (GRCm39) |
I215N |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,504,337 (GRCm39) |
V3657A |
probably benign |
Het |
| Lin28b |
A |
T |
10: 45,345,164 (GRCm39) |
L54* |
probably null |
Het |
| Mgll |
T |
C |
6: 88,702,743 (GRCm39) |
V14A |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,234,408 (GRCm39) |
N976S |
probably benign |
Het |
| Myh8 |
C |
A |
11: 67,196,788 (GRCm39) |
A1807E |
possibly damaging |
Het |
| Nalcn |
G |
A |
14: 123,647,155 (GRCm39) |
P573S |
probably damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Neb |
T |
C |
2: 52,168,827 (GRCm39) |
S1903G |
probably benign |
Het |
| Nfe2 |
T |
A |
15: 103,157,556 (GRCm39) |
D145V |
probably damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,687 (GRCm39) |
Y295* |
probably null |
Het |
| Padi1 |
A |
T |
4: 140,542,164 (GRCm39) |
V586D |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,416,192 (GRCm39) |
D311G |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,145,439 (GRCm39) |
H510L |
probably damaging |
Het |
| Plcb1 |
C |
A |
2: 135,102,486 (GRCm39) |
P221H |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,069,856 (GRCm39) |
V58E |
probably damaging |
Het |
| Pparg |
A |
C |
6: 115,467,032 (GRCm39) |
Q435P |
probably damaging |
Het |
| Ppp1r36 |
A |
G |
12: 76,484,892 (GRCm39) |
T282A |
possibly damaging |
Het |
| Prcd |
T |
C |
11: 116,559,110 (GRCm39) |
|
probably benign |
Het |
| Pygo1 |
A |
T |
9: 72,852,266 (GRCm39) |
H151L |
possibly damaging |
Het |
| Rnmt |
A |
G |
18: 68,446,773 (GRCm39) |
Y266C |
probably benign |
Het |
| Rxrb |
T |
C |
17: 34,255,411 (GRCm39) |
V246A |
probably damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,704 (GRCm39) |
S378P |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,865,390 (GRCm39) |
N318S |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,798,754 (GRCm39) |
V1765I |
probably benign |
Het |
| Slc17a6 |
A |
T |
7: 51,276,598 (GRCm39) |
K116* |
probably null |
Het |
| Smc6 |
T |
A |
12: 11,341,540 (GRCm39) |
H519Q |
probably benign |
Het |
| Sowahc |
T |
A |
10: 59,058,785 (GRCm39) |
M307K |
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,087,560 (GRCm39) |
Y960H |
probably damaging |
Het |
| Tmem270 |
A |
C |
5: 134,931,636 (GRCm39) |
V102G |
probably benign |
Het |
| Tmprss11d |
A |
G |
5: 86,486,729 (GRCm39) |
F54L |
probably benign |
Het |
| Top1 |
T |
A |
2: 160,544,695 (GRCm39) |
Y270* |
probably null |
Het |
| Trpm2 |
A |
G |
10: 77,771,795 (GRCm39) |
F615L |
probably benign |
Het |
| Ttf2 |
A |
G |
3: 100,866,558 (GRCm39) |
S525P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,777,241 (GRCm39) |
M1387K |
possibly damaging |
Het |
| Upk3bl |
A |
T |
5: 136,088,954 (GRCm39) |
R156W |
probably damaging |
Het |
| Usp34 |
G |
T |
11: 23,299,198 (GRCm39) |
R290L |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,620,005 (GRCm39) |
V1561A |
|
Het |
| Zan |
A |
G |
5: 137,420,155 (GRCm39) |
I2834T |
unknown |
Het |
| Zfp105 |
A |
G |
9: 122,755,454 (GRCm39) |
Y90C |
probably benign |
Het |
| Zfp804a |
T |
C |
2: 82,089,339 (GRCm39) |
V1056A |
probably damaging |
Het |
| Zfp956 |
A |
T |
6: 47,930,455 (GRCm39) |
|
probably benign |
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 |
|
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'- TGAAAATGTTTTGAAGCCTGAGGG -3'
(R):5'- AGAGATAAAGGAAATCTTTGGTGCC -3'
Sequencing Primer
(F):5'- GGGGAGGCAAAATGTTTTAAATTCAC -3'
(R):5'- AAAGGAAATCTTTGGTGCCTTGCTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation