Incidental Mutation 'IGL03187:Kansl1l'
ID 412493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kansl1l
Ensembl Gene ENSMUSG00000026004
Gene Name KAT8 regulatory NSL complex subunit 1-like
Synonyms 1110028C15Rik, C430010P07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # IGL03187
Quality Score
Status
Chromosome 1
Chromosomal Location 66758407-66856721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66765062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 749 (K749N)
Ref Sequence ENSEMBL: ENSMUSP00000063843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068168]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000068168
AA Change: K749N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063843
Gene: ENSMUSG00000026004
AA Change: K749N

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000129190
AA Change: K448N
SMART Domains Protein: ENSMUSP00000118603
Gene: ENSMUSG00000026004
AA Change: K448N

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbx G A 16: 50,094,926 (GRCm39) T130I probably damaging Het
Cdkl2 A G 5: 92,165,239 (GRCm39) probably null Het
Clrn1 A G 3: 58,753,854 (GRCm39) V169A probably damaging Het
Erbb3 A G 10: 128,408,463 (GRCm39) probably benign Het
Gucy2g A C 19: 55,219,484 (GRCm39) I379M possibly damaging Het
Hps5 A T 7: 46,422,631 (GRCm39) L533Q probably damaging Het
Krt6b G T 15: 101,588,392 (GRCm39) F89L probably benign Het
Myh1 T C 11: 67,097,351 (GRCm39) F439L possibly damaging Het
Neb G A 2: 52,059,100 (GRCm39) H213Y probably damaging Het
Nhej1 A G 1: 75,007,420 (GRCm39) S111P possibly damaging Het
Or4k1 G T 14: 50,377,257 (GRCm39) P280T probably damaging Het
Pcdh15 G A 10: 74,191,706 (GRCm39) V601M probably damaging Het
Ripor3 A G 2: 167,827,588 (GRCm39) V621A possibly damaging Het
Smarca2 A G 19: 26,650,224 (GRCm39) N732S probably damaging Het
Stx18 G A 5: 38,284,327 (GRCm39) E170K possibly damaging Het
Syde1 A T 10: 78,424,943 (GRCm39) I356N possibly damaging Het
Tex2 C T 11: 106,458,903 (GRCm39) probably benign Het
Vmn2r50 T G 7: 9,771,368 (GRCm39) T778P probably damaging Het
Zfp709 T G 8: 72,643,126 (GRCm39) I184S probably benign Het
Other mutations in Kansl1l
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2016-08-02