Incidental Mutation 'R6009:Kansl1l'
| ID |
479627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kansl1l
|
| Ensembl Gene |
ENSMUSG00000026004 |
| Gene Name |
KAT8 regulatory NSL complex subunit 1-like |
| Synonyms |
1110028C15Rik, C430010P07Rik |
| MMRRC Submission |
044186-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R6009 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
66758407-66856721 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66774759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 689
(C689Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109620
(fasta)
|
| 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
AA Change: C689Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109620
Gene: ENSMUSG00000026004
AA Change: C689Y
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
G |
14: 29,700,454 (GRCm39) |
|
probably benign |
Het |
| Afap1 |
T |
C |
5: 36,154,904 (GRCm39) |
S683P |
probably damaging |
Het |
| Chid1 |
T |
A |
7: 141,109,493 (GRCm39) |
D131V |
probably damaging |
Het |
| Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
| Crlf1 |
A |
C |
8: 70,956,129 (GRCm39) |
K403T |
probably damaging |
Het |
| Ctdspl2 |
T |
G |
2: 121,819,319 (GRCm39) |
N201K |
probably benign |
Het |
| Cyb561a3 |
G |
A |
19: 10,564,172 (GRCm39) |
V171I |
possibly damaging |
Het |
| Dazap1 |
T |
C |
10: 80,121,138 (GRCm39) |
|
probably benign |
Het |
| Dbf4 |
G |
T |
5: 8,453,718 (GRCm39) |
Q235K |
probably damaging |
Het |
| Dgka |
C |
T |
10: 128,559,548 (GRCm39) |
G471D |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,630,458 (GRCm39) |
F100Y |
possibly damaging |
Het |
| Flii |
A |
T |
11: 60,611,583 (GRCm39) |
L376* |
probably null |
Het |
| Fnip1 |
G |
T |
11: 54,393,097 (GRCm39) |
G487V |
probably damaging |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Golgb1 |
G |
T |
16: 36,735,321 (GRCm39) |
A1523S |
probably damaging |
Het |
| Gstm4 |
A |
G |
3: 107,950,659 (GRCm39) |
V114A |
possibly damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,246,602 (GRCm39) |
F1569S |
possibly damaging |
Het |
| Gtf3c5 |
A |
T |
2: 28,461,177 (GRCm39) |
D312E |
probably benign |
Het |
| Gtpbp1 |
G |
A |
15: 79,596,297 (GRCm39) |
V149M |
probably damaging |
Het |
| Hoxa7 |
C |
T |
6: 52,194,367 (GRCm39) |
V7M |
probably damaging |
Het |
| Il17f |
C |
T |
1: 20,849,510 (GRCm39) |
|
probably null |
Het |
| Ints9 |
T |
C |
14: 65,245,531 (GRCm39) |
V263A |
probably benign |
Het |
| Kctd7 |
G |
A |
5: 130,174,039 (GRCm39) |
G39E |
probably damaging |
Het |
| Krt82 |
T |
A |
15: 101,453,540 (GRCm39) |
D282V |
probably benign |
Het |
| Lemd1 |
G |
T |
1: 132,155,990 (GRCm39) |
E11* |
probably null |
Het |
| Maml2 |
A |
G |
9: 13,532,294 (GRCm39) |
T503A |
probably benign |
Het |
| Mief2 |
A |
G |
11: 60,622,485 (GRCm39) |
T352A |
probably benign |
Het |
| Msantd1 |
C |
A |
5: 35,075,049 (GRCm39) |
T37K |
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,243,462 (GRCm39) |
E94G |
probably damaging |
Het |
| Naaa |
A |
T |
5: 92,407,440 (GRCm39) |
L353Q |
probably benign |
Het |
| Nek5 |
T |
C |
8: 22,610,838 (GRCm39) |
E55G |
probably benign |
Het |
| Npat |
T |
C |
9: 53,474,749 (GRCm39) |
M847T |
probably damaging |
Het |
| Nus1 |
G |
A |
10: 52,309,539 (GRCm39) |
V268I |
probably benign |
Het |
| Or51r1 |
A |
G |
7: 102,227,801 (GRCm39) |
N33S |
possibly damaging |
Het |
| Parn |
C |
T |
16: 13,485,428 (GRCm39) |
D23N |
probably damaging |
Het |
| Pdgfa |
T |
C |
5: 138,964,954 (GRCm39) |
E176G |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,735,405 (GRCm39) |
F249I |
probably damaging |
Het |
| Plscr5 |
C |
T |
9: 92,086,488 (GRCm39) |
Q153* |
probably null |
Het |
| Polr2b |
T |
C |
5: 77,468,099 (GRCm39) |
I133T |
probably benign |
Het |
| Polr3c |
A |
G |
3: 96,620,930 (GRCm39) |
S463P |
probably damaging |
Het |
| Pprc1 |
A |
T |
19: 46,060,171 (GRCm39) |
I1530L |
probably damaging |
Het |
| Prex1 |
C |
T |
2: 166,423,904 (GRCm39) |
S996N |
probably damaging |
Het |
| Rnf169 |
C |
A |
7: 99,576,330 (GRCm39) |
R291S |
possibly damaging |
Het |
| Setd5 |
A |
G |
6: 113,087,480 (GRCm39) |
K127R |
probably damaging |
Het |
| Slc25a26 |
G |
T |
6: 94,487,807 (GRCm39) |
V89L |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 61,877,034 (GRCm39) |
T16A |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,747,951 (GRCm39) |
H430Q |
probably damaging |
Het |
| Ttll7 |
A |
T |
3: 146,640,290 (GRCm39) |
D503V |
probably damaging |
Het |
| Vav2 |
A |
T |
2: 27,161,912 (GRCm39) |
|
probably null |
Het |
| Zbtb47 |
T |
C |
9: 121,591,937 (GRCm39) |
S86P |
possibly damaging |
Het |
| Zfp345 |
A |
T |
2: 150,314,437 (GRCm39) |
C367S |
probably damaging |
Het |
| Zfp964 |
T |
A |
8: 70,116,106 (GRCm39) |
H235Q |
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 |
|
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 |
|
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'- TCCCTGCCTCATGTCAAAG -3'
(R):5'- CGCTTACTAACCTTCTTGGGAAG -3'
Sequencing Primer
(F):5'- TGCCTCATGTCAAAGAGCCTC -3'
(R):5'- AATTAGTGTTAGGCTGTGGAAAATG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation