Incidental Mutation 'IGL02711:Kansl1'
ID 304576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kansl1
Ensembl Gene ENSMUSG00000018412
Gene Name KAT8 regulatory NSL complex subunit 1
Synonyms 1700081L11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02711
Quality Score
Status
Chromosome 11
Chromosomal Location 104224055-104359687 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104226401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 982 (S982T)
Ref Sequence ENSEMBL: ENSMUSP00000102585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018556] [ENSMUST00000106971] [ENSMUST00000106972] [ENSMUST00000106977] [ENSMUST00000106992]
AlphaFold Q80TG1
Predicted Effect probably damaging
Transcript: ENSMUST00000018556
AA Change: S919T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000018556
Gene: ENSMUSG00000018412
AA Change: S919T

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000106971
AA Change: S982T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102584
Gene: ENSMUSG00000018412
AA Change: S982T

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000106972
AA Change: S982T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102585
Gene: ENSMUSG00000018412
AA Change: S982T

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000106977
AA Change: S919T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102590
Gene: ENSMUSG00000018412
AA Change: S919T

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000106992
SMART Domains Protein: ENSMUSP00000102605
Gene: ENSMUSG00000018411

DomainStartEndE-ValueType
low complexity region 69 81 N/A INTRINSIC
low complexity region 105 154 N/A INTRINSIC
Pfam:Tubulin-binding 174 205 6.1e-19 PFAM
Pfam:Tubulin-binding 206 236 1.5e-21 PFAM
Pfam:Tubulin-binding 237 267 6.9e-20 PFAM
Pfam:Tubulin-binding 268 299 4.7e-19 PFAM
Coding Region Coverage
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,773,245 (GRCm39) probably null Het
Adamts10 T A 17: 33,757,246 (GRCm39) M400K probably damaging Het
Adamts17 G A 7: 66,701,788 (GRCm39) probably benign Het
Adh5 A G 3: 138,160,434 (GRCm39) K323E probably damaging Het
Angptl2 T C 2: 33,118,255 (GRCm39) W10R probably benign Het
Arhgap15 T C 2: 44,006,674 (GRCm39) F264L possibly damaging Het
Atp6v1g3 T A 1: 138,211,419 (GRCm39) L33Q probably damaging Het
Baz2b A T 2: 59,747,849 (GRCm39) probably benign Het
Capn11 A G 17: 45,943,341 (GRCm39) F611S probably damaging Het
Cep152 T A 2: 125,405,862 (GRCm39) T1557S possibly damaging Het
Cep76 A T 18: 67,771,406 (GRCm39) S75R probably benign Het
Cps1 A G 1: 67,251,676 (GRCm39) probably benign Het
Dbf4 G T 5: 8,458,235 (GRCm39) A199E probably benign Het
Gldc C T 19: 30,122,546 (GRCm39) probably null Het
Hspa14 G A 2: 3,503,557 (GRCm39) A117V probably benign Het
Igkv4-80 G A 6: 68,993,801 (GRCm39) P30L probably damaging Het
Itga2b A T 11: 102,356,551 (GRCm39) W292R possibly damaging Het
Klhdc7b A T 15: 89,272,246 (GRCm39) K1043* probably null Het
Kmt2a A T 9: 44,735,820 (GRCm39) probably benign Het
Krt86 T C 15: 101,371,543 (GRCm39) Y38H probably damaging Het
Lingo4 T C 3: 94,310,700 (GRCm39) I546T probably benign Het
Lrrk1 A G 7: 65,980,515 (GRCm39) S222P probably damaging Het
Lrrk2 T C 15: 91,570,025 (GRCm39) V178A possibly damaging Het
Maml2 T C 9: 13,531,359 (GRCm39) V191A probably benign Het
Msh3 T C 13: 92,487,819 (GRCm39) T133A probably damaging Het
Nck1 T C 9: 100,390,673 (GRCm39) D12G probably damaging Het
Nox4 T C 7: 87,046,076 (GRCm39) Y572H probably damaging Het
Nqo1 A T 8: 108,119,563 (GRCm39) L30Q probably damaging Het
Or5ak24 A T 2: 85,261,083 (GRCm39) V30E probably damaging Het
Oxr1 A G 15: 41,517,067 (GRCm39) probably benign Het
Pcare T C 17: 72,056,377 (GRCm39) D1100G probably benign Het
Pcdhb10 A C 18: 37,545,779 (GRCm39) D285A possibly damaging Het
Pclo A G 5: 14,572,322 (GRCm39) N569S unknown Het
Ppfibp1 T A 6: 146,927,736 (GRCm39) Y794* probably null Het
Ripor3 T G 2: 167,848,200 (GRCm39) probably benign Het
Rpe65 C A 3: 159,328,514 (GRCm39) H441N possibly damaging Het
St14 A G 9: 31,001,196 (GRCm39) V845A probably benign Het
Tmem116 T A 5: 121,625,804 (GRCm39) probably benign Het
Tnfrsf11b A T 15: 54,119,532 (GRCm39) D147E probably benign Het
Ttn C A 2: 76,560,466 (GRCm39) G27566* probably null Het
Zscan18 G T 7: 12,509,044 (GRCm39) probably benign Het
Other mutations in Kansl1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R0667: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
Posted On 2015-04-16