Incidental Mutation 'R0667:Kansl1'
| ID |
218554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kansl1
|
| Ensembl Gene |
ENSMUSG00000018412 |
| Gene Name |
KAT8 regulatory NSL complex subunit 1 |
| Synonyms |
1700081L11Rik |
| MMRRC Submission |
038852-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0667 (G1)
|
| Quality Score |
80 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
104224055-104359687 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104234364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 714
(V714A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018556]
[ENSMUST00000106971]
[ENSMUST00000106972]
[ENSMUST00000106977]
|
| AlphaFold |
Q80TG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018556
AA Change: V714A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018556
Gene: ENSMUSG00000018412
AA Change: V714A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
283 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
772 |
N/A |
INTRINSIC |
|
PEHE
|
816 |
966 |
1.53e-53 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000069188
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106971
AA Change: V714A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102584
Gene: ENSMUSG00000018412
AA Change: V714A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
283 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
835 |
N/A |
INTRINSIC |
|
PEHE
|
879 |
1029 |
1.53e-53 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106972
AA Change: V714A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102585
Gene: ENSMUSG00000018412
AA Change: V714A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
283 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
835 |
N/A |
INTRINSIC |
|
PEHE
|
879 |
1029 |
1.53e-53 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106977
AA Change: V714A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102590
Gene: ENSMUSG00000018412
AA Change: V714A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
283 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
772 |
N/A |
INTRINSIC |
|
PEHE
|
816 |
966 |
1.53e-53 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
98% (64/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
All alleles(136) : Gene trapped(136)
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
T |
11: 110,218,637 (GRCm39) |
N76K |
probably benign |
Het |
| Adamts12 |
C |
T |
15: 11,215,710 (GRCm39) |
R244C |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,962,115 (GRCm39) |
S1143P |
probably benign |
Het |
| Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
| Cand1 |
A |
G |
10: 119,052,425 (GRCm39) |
S234P |
probably benign |
Het |
| Cd200 |
T |
A |
16: 45,215,220 (GRCm39) |
I144L |
probably benign |
Het |
| Cep76 |
A |
T |
18: 67,767,848 (GRCm39) |
L228Q |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,535,744 (GRCm39) |
L2584S |
probably damaging |
Het |
| Col6a3 |
A |
C |
1: 90,755,823 (GRCm39) |
D155E |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,907,158 (GRCm39) |
|
probably benign |
Het |
| Dsg2 |
A |
C |
18: 20,706,556 (GRCm39) |
D24A |
possibly damaging |
Het |
| Gm5901 |
G |
A |
7: 105,026,697 (GRCm39) |
S155N |
possibly damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,247,644 (GRCm39) |
|
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,188,346 (GRCm39) |
S936T |
probably benign |
Het |
| Klhdc3 |
A |
T |
17: 46,988,151 (GRCm39) |
F205I |
probably benign |
Het |
| Krt31 |
T |
A |
11: 99,938,951 (GRCm39) |
H290L |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,220,406 (GRCm39) |
|
probably null |
Het |
| Mep1a |
T |
G |
17: 43,789,081 (GRCm39) |
D565A |
probably benign |
Het |
| Mgme1 |
T |
A |
2: 144,120,907 (GRCm39) |
|
probably benign |
Het |
| Mtf2 |
C |
T |
5: 108,252,369 (GRCm39) |
T409I |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,081,794 (GRCm39) |
|
probably null |
Het |
| Myo1c |
A |
G |
11: 75,559,338 (GRCm39) |
E650G |
probably damaging |
Het |
| Nipbl |
A |
C |
15: 8,390,488 (GRCm39) |
D260E |
possibly damaging |
Het |
| Nufip2 |
T |
A |
11: 77,582,839 (GRCm39) |
V251D |
possibly damaging |
Het |
| Or2n1e |
C |
A |
17: 38,586,048 (GRCm39) |
P129T |
probably damaging |
Het |
| Or4a2 |
T |
C |
2: 89,248,032 (GRCm39) |
I242V |
probably benign |
Het |
| Or7g35 |
T |
A |
9: 19,496,743 (GRCm39) |
N303K |
probably benign |
Het |
| Osm |
G |
T |
11: 4,189,918 (GRCm39) |
R234L |
possibly damaging |
Het |
| Pabpc1 |
G |
A |
15: 36,598,275 (GRCm39) |
A515V |
probably benign |
Het |
| Piwil1 |
T |
A |
5: 128,818,542 (GRCm39) |
|
probably null |
Het |
| Pld1 |
A |
G |
3: 28,133,327 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
C |
T |
12: 76,623,372 (GRCm39) |
R871C |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,749,555 (GRCm39) |
Y1147F |
probably damaging |
Het |
| Prmt3 |
A |
G |
7: 49,441,743 (GRCm39) |
Y240C |
probably damaging |
Het |
| Prr36 |
G |
T |
8: 4,266,311 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,875,583 (GRCm39) |
I908T |
probably damaging |
Het |
| Sae1 |
A |
T |
7: 16,102,457 (GRCm39) |
N172K |
probably damaging |
Het |
| Satb1 |
T |
G |
17: 52,089,889 (GRCm39) |
Q319H |
probably damaging |
Het |
| Scart2 |
C |
G |
7: 139,841,450 (GRCm39) |
S251R |
possibly damaging |
Het |
| Scn2a |
A |
T |
2: 65,582,340 (GRCm39) |
I1563F |
possibly damaging |
Het |
| Scn3a |
C |
A |
2: 65,314,755 (GRCm39) |
R1102L |
probably null |
Het |
| Serpinb9b |
T |
A |
13: 33,216,909 (GRCm39) |
L60* |
probably null |
Het |
| Setd1a |
A |
G |
7: 127,385,765 (GRCm39) |
D281G |
probably damaging |
Het |
| Slc8a1 |
C |
A |
17: 81,956,310 (GRCm39) |
V243F |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,325,716 (GRCm39) |
H115Q |
probably benign |
Het |
| Tiam1 |
C |
A |
16: 89,694,872 (GRCm39) |
S195I |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,086,113 (GRCm39) |
V803A |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,003,415 (GRCm39) |
Q423L |
probably benign |
Het |
| Tyk2 |
A |
C |
9: 21,020,167 (GRCm39) |
V997G |
probably damaging |
Het |
| Uhrf1 |
T |
C |
17: 56,617,677 (GRCm39) |
V133A |
probably benign |
Het |
| Vmn2r107 |
A |
C |
17: 20,575,916 (GRCm39) |
Y82S |
possibly damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,503 (GRCm39) |
F792L |
probably damaging |
Het |
| Vps13c |
G |
A |
9: 67,858,855 (GRCm39) |
W2768* |
probably null |
Het |
| Zfp456 |
A |
T |
13: 67,514,861 (GRCm39) |
C282S |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,916,561 (GRCm39) |
N562D |
possibly damaging |
Het |
| Zmynd15 |
G |
T |
11: 70,355,944 (GRCm39) |
G481C |
probably damaging |
Het |
|
| Other mutations in Kansl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Kansl1
|
APN |
11 |
104,315,292 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00658:Kansl1
|
APN |
11 |
104,248,352 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL00688:Kansl1
|
APN |
11 |
104,315,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01121:Kansl1
|
APN |
11 |
104,226,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01624:Kansl1
|
APN |
11 |
104,315,378 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02187:Kansl1
|
APN |
11 |
104,269,657 (GRCm39) |
splice site |
probably null |
|
|
IGL02711:Kansl1
|
APN |
11 |
104,226,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02965:Kansl1
|
APN |
11 |
104,225,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
kansas
|
UTSW |
11 |
104,314,958 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
wichita
|
UTSW |
11 |
104,247,593 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
NA:Kansl1
|
UTSW |
11 |
104,233,193 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0399:Kansl1
|
UTSW |
11 |
104,314,958 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0611:Kansl1
|
UTSW |
11 |
104,229,012 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0665:Kansl1
|
UTSW |
11 |
104,234,364 (GRCm39) |
missense |
probably benign |
|
|
R0747:Kansl1
|
UTSW |
11 |
104,233,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0865:Kansl1
|
UTSW |
11 |
104,315,194 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1479:Kansl1
|
UTSW |
11 |
104,233,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1679:Kansl1
|
UTSW |
11 |
104,314,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Kansl1
|
UTSW |
11 |
104,233,283 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1922:Kansl1
|
UTSW |
11 |
104,234,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Kansl1
|
UTSW |
11 |
104,225,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2105:Kansl1
|
UTSW |
11 |
104,226,385 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2907:Kansl1
|
UTSW |
11 |
104,315,286 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3935:Kansl1
|
UTSW |
11 |
104,234,369 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3936:Kansl1
|
UTSW |
11 |
104,234,369 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4282:Kansl1
|
UTSW |
11 |
104,269,515 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4455:Kansl1
|
UTSW |
11 |
104,315,184 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4696:Kansl1
|
UTSW |
11 |
104,247,593 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4846:Kansl1
|
UTSW |
11 |
104,233,798 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4890:Kansl1
|
UTSW |
11 |
104,233,868 (GRCm39) |
missense |
probably benign |
|
|
R4973:Kansl1
|
UTSW |
11 |
104,315,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4975:Kansl1
|
UTSW |
11 |
104,226,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5085:Kansl1
|
UTSW |
11 |
104,315,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5227:Kansl1
|
UTSW |
11 |
104,247,640 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5310:Kansl1
|
UTSW |
11 |
104,315,684 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5652:Kansl1
|
UTSW |
11 |
104,228,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5677:Kansl1
|
UTSW |
11 |
104,225,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5980:Kansl1
|
UTSW |
11 |
104,234,463 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6013:Kansl1
|
UTSW |
11 |
104,241,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6253:Kansl1
|
UTSW |
11 |
104,248,352 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7751:Kansl1
|
UTSW |
11 |
104,314,890 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7880:Kansl1
|
UTSW |
11 |
104,314,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7888:Kansl1
|
UTSW |
11 |
104,233,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7935:Kansl1
|
UTSW |
11 |
104,315,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8251:Kansl1
|
UTSW |
11 |
104,315,186 (GRCm39) |
missense |
probably benign |
|
|
R9033:Kansl1
|
UTSW |
11 |
104,248,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9192:Kansl1
|
UTSW |
11 |
104,227,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Kansl1
|
UTSW |
11 |
104,247,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTCCTGCCTGTTTGAGCTTCC -3'
(R):5'- CCCTGCTTTGGCAAGTGAGACTAC -3'
Sequencing Primer
(F):5'- CTGTTTGAGCTTCCAAAGTCTATCAG -3'
(R):5'- GCAAGTGAGACTACTTGTTAAACCAG -3'
|
| Posted On |
2014-08-18 |
Incidental Mutation