Incidental Mutation 'R6092:Kansl1l'
| ID |
485957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kansl1l
|
| Ensembl Gene |
ENSMUSG00000026004 |
| Gene Name |
KAT8 regulatory NSL complex subunit 1-like |
| Synonyms |
1110028C15Rik, C430010P07Rik |
| MMRRC Submission |
044249-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R6092 (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 G
at 66812643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 457
(E457Q)
|
| 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: E457Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063843
Gene: ENSMUSG00000026004
AA Change: E457Q
| 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 damaging
Transcript: ENSMUST00000113987
AA Change: E457Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109620
Gene: ENSMUSG00000026004
AA Change: E457Q
| 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 |
unknown
Transcript: ENSMUST00000129190
AA Change: E112Q
|
| SMART Domains |
Protein: ENSMUSP00000118603
Gene: ENSMUSG00000026004
AA Change: E112Q
| 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: ENSMUST00000191945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195411
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195562
|
| Meta Mutation Damage Score |
0.0882 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,774,701 (GRCm39) |
P1297S |
probably benign |
Het |
| 4930486L24Rik |
C |
T |
13: 61,001,461 (GRCm39) |
V89M |
probably benign |
Het |
| Abhd16a |
T |
C |
17: 35,317,786 (GRCm39) |
|
probably null |
Het |
| Abtb1 |
A |
C |
6: 88,815,433 (GRCm39) |
C264G |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Arid1a |
C |
T |
4: 133,421,163 (GRCm39) |
G881R |
unknown |
Het |
| Asb8 |
A |
G |
15: 98,034,123 (GRCm39) |
V144A |
possibly damaging |
Het |
| Atm |
A |
C |
9: 53,435,714 (GRCm39) |
C199G |
probably damaging |
Het |
| Atxn1 |
C |
A |
13: 45,720,288 (GRCm39) |
V536L |
probably benign |
Het |
| Baz1a |
C |
T |
12: 54,955,868 (GRCm39) |
V1074M |
possibly damaging |
Het |
| BC034090 |
T |
A |
1: 155,100,659 (GRCm39) |
D535V |
probably damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,639,380 (GRCm39) |
H145N |
probably damaging |
Het |
| Ccdc24 |
T |
A |
4: 117,729,645 (GRCm39) |
K25* |
probably null |
Het |
| Ccdc91 |
A |
G |
6: 147,437,114 (GRCm39) |
N100S |
possibly damaging |
Het |
| Cdh20 |
A |
T |
1: 110,026,036 (GRCm39) |
Y424F |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,438,028 (GRCm39) |
S612P |
probably damaging |
Het |
| Cxcl14 |
T |
C |
13: 56,443,646 (GRCm39) |
M55V |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,892,191 (GRCm39) |
T3661A |
probably benign |
Het |
| Dnah14 |
T |
A |
1: 181,449,398 (GRCm39) |
D574E |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,091,680 (GRCm39) |
V2204M |
possibly damaging |
Het |
| Ercc4 |
A |
T |
16: 12,943,125 (GRCm39) |
H178L |
probably benign |
Het |
| Far2 |
T |
C |
6: 148,076,581 (GRCm39) |
F475L |
probably benign |
Het |
| Ggt7 |
A |
G |
2: 155,359,959 (GRCm39) |
|
probably null |
Het |
| Gm4131 |
T |
A |
14: 62,718,364 (GRCm39) |
T81S |
possibly damaging |
Het |
| Gprc6a |
A |
G |
10: 51,491,173 (GRCm39) |
S788P |
probably damaging |
Het |
| Hmgxb3 |
C |
A |
18: 61,270,672 (GRCm39) |
G884V |
possibly damaging |
Het |
| Homer1 |
T |
A |
13: 93,502,945 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,861,897 (GRCm39) |
S483P |
probably damaging |
Het |
| Krtap4-9 |
G |
A |
11: 99,676,481 (GRCm39) |
|
probably benign |
Het |
| Lepr |
C |
A |
4: 101,649,220 (GRCm39) |
P874T |
probably damaging |
Het |
| Mad2l2 |
T |
A |
4: 148,228,067 (GRCm39) |
F100L |
probably damaging |
Het |
| Mavs |
A |
T |
2: 131,087,518 (GRCm39) |
R339* |
probably null |
Het |
| Mettl1 |
G |
A |
10: 126,877,843 (GRCm39) |
|
probably benign |
Het |
| Mfsd8 |
A |
G |
3: 40,774,031 (GRCm39) |
V493A |
possibly damaging |
Het |
| Mtmr9 |
C |
T |
14: 63,779,901 (GRCm39) |
V63M |
possibly damaging |
Het |
| Mto1 |
T |
C |
9: 78,368,131 (GRCm39) |
I425T |
possibly damaging |
Het |
| Or2av9 |
A |
T |
11: 58,380,900 (GRCm39) |
M227K |
probably damaging |
Het |
| Or5g29 |
A |
G |
2: 85,420,950 (GRCm39) |
Y22C |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Pclo |
C |
T |
5: 14,727,937 (GRCm39) |
|
probably benign |
Het |
| Phf2 |
T |
C |
13: 48,969,533 (GRCm39) |
D608G |
unknown |
Het |
| Plch2 |
T |
C |
4: 155,068,829 (GRCm39) |
T1266A |
probably benign |
Het |
| Prdm12 |
A |
G |
2: 31,533,889 (GRCm39) |
N169D |
probably damaging |
Het |
| Rimbp3 |
A |
G |
16: 17,030,134 (GRCm39) |
Y1186C |
probably damaging |
Het |
| Serpinb3d |
T |
C |
1: 107,006,989 (GRCm39) |
M240V |
probably damaging |
Het |
| Slc25a38 |
C |
T |
9: 119,945,658 (GRCm39) |
R74C |
probably damaging |
Het |
| Slc25a39 |
A |
T |
11: 102,295,719 (GRCm39) |
Y109* |
probably null |
Het |
| Slc26a8 |
T |
C |
17: 28,867,129 (GRCm39) |
N564S |
probably damaging |
Het |
| Spag4 |
G |
A |
2: 155,907,696 (GRCm39) |
|
probably benign |
Het |
| Stx1b |
A |
G |
7: 127,407,035 (GRCm39) |
M74T |
possibly damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,507,242 (GRCm39) |
D1153G |
probably benign |
Het |
| Tert |
T |
C |
13: 73,776,700 (GRCm39) |
F484L |
probably benign |
Het |
| Tet1 |
A |
G |
10: 62,649,494 (GRCm39) |
V72A |
probably benign |
Het |
| Tnfrsf13c |
T |
C |
15: 82,107,355 (GRCm39) |
T147A |
probably damaging |
Het |
| Trpa1 |
A |
T |
1: 14,959,710 (GRCm39) |
Y659N |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,761,516 (GRCm39) |
F1045L |
probably benign |
Het |
| Ttc13 |
T |
C |
8: 125,405,772 (GRCm39) |
H529R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,545,614 (GRCm39) |
T32570A |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,860,359 (GRCm39) |
T892A |
possibly damaging |
Het |
| Uty |
A |
T |
Y: 1,174,836 (GRCm39) |
M195K |
probably benign |
Het |
| Zfp109 |
A |
G |
7: 23,928,978 (GRCm39) |
S152P |
possibly damaging |
Het |
| Zfp532 |
T |
C |
18: 65,777,281 (GRCm39) |
V846A |
probably damaging |
Het |
| Zfp658 |
A |
T |
7: 43,223,951 (GRCm39) |
H742L |
possibly damaging |
Het |
| Zfp831 |
C |
A |
2: 174,547,299 (GRCm39) |
P1494Q |
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 |
|
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 |
|
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'- TCTCTCAGGATCTAAATGACCCAATC -3'
(R):5'- GAGGATAGTAGGATGTGATCACTTTAC -3'
Sequencing Primer
(F):5'- CCTCAAGAGCTGGGATTATGACC -3'
(R):5'- TTTTACCCCCTAGGGGATAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation