Incidental Mutation 'IGL01644:Kansl1l'
ID102595
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kansl1l
Ensembl Gene ENSMUSG00000026004
Gene NameKAT8 regulatory NSL complex subunit 1-like
Synonyms1110028C15Rik, C430010P07Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.385) question?
Stock #IGL01644
Quality Score
Status
Chromosome1
Chromosomal Location66719248-66817562 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 66801316 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 275 (I275T)
Ref Sequence ENSEMBL: ENSMUSP00000109620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068168] [ENSMUST00000113987]
Predicted Effect probably benign
Transcript: ENSMUST00000068168
AA Change: I275T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063843
Gene: ENSMUSG00000026004
AA Change: I275T

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 probably benign
Transcript: ENSMUST00000113987
AA Change: I275T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000109620
Gene: ENSMUSG00000026004
AA Change: I275T

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
Predicted Effect probably benign
Transcript: ENSMUST00000129190
SMART Domains Protein: ENSMUSP00000118603
Gene: ENSMUSG00000026004

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194465
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 A G 7: 101,297,217 *82R probably null Het
Crb1 T A 1: 139,237,630 R919* probably null Het
Csf1 T C 3: 107,753,842 T120A possibly damaging Het
Defa29 A T 8: 21,326,121 C77S possibly damaging Het
Defb7 A T 8: 19,497,701 probably benign Het
Ece2 T C 16: 20,617,866 V146A possibly damaging Het
Efcab6 T A 15: 84,033,072 S96C probably damaging Het
Gm7729 T C 18: 27,598,819 noncoding transcript Het
Hapln2 G T 3: 88,022,637 R311S probably damaging Het
Impg2 C T 16: 56,259,870 P679L probably benign Het
Med29 A G 7: 28,390,847 F108L probably damaging Het
Nrxn1 C T 17: 90,620,873 C789Y possibly damaging Het
Olfr1230 T C 2: 89,296,632 I213V probably benign Het
Olfr1490 A T 19: 13,655,404 probably benign Het
Palld T C 8: 61,877,478 K122E probably benign Het
Ppl A T 16: 5,091,855 L864H probably damaging Het
Ptov1 C A 7: 44,867,502 E37* probably null Het
Sspo T C 6: 48,452,502 V482A probably benign Het
St7l C T 3: 104,919,456 R377* probably null Het
Ttn G T 2: 76,755,383 P13643T probably damaging Het
Vcan T A 13: 89,688,675 T2917S probably benign Het
Other mutations in Kansl1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00576:Kansl1l APN 1 66724574 missense possibly damaging 0.83
IGL00825:Kansl1l APN 1 66801512 missense probably benign
IGL01690:Kansl1l APN 1 66801073 missense probably damaging 0.98
IGL01811:Kansl1l APN 1 66723303 missense probably damaging 1.00
IGL01966:Kansl1l APN 1 66738068 missense probably damaging 1.00
IGL02549:Kansl1l APN 1 66801968 missense probably benign 0.44
IGL02578:Kansl1l APN 1 66801689 nonsense probably null
IGL02707:Kansl1l APN 1 66773445 missense probably damaging 1.00
IGL03088:Kansl1l APN 1 66735725 missense probably damaging 0.98
IGL03187:Kansl1l APN 1 66725903 missense probably damaging 1.00
IGL03279:Kansl1l APN 1 66735666 missense probably damaging 0.99
R0068:Kansl1l UTSW 1 66720888 missense probably benign 0.00
R0068:Kansl1l UTSW 1 66720888 missense probably benign 0.00
R0070:Kansl1l UTSW 1 66801103 missense probably damaging 0.99
R0312:Kansl1l UTSW 1 66778106 missense probably null 0.41
R0456:Kansl1l UTSW 1 66735726 missense probably damaging 0.99
R0720:Kansl1l UTSW 1 66801356 missense possibly damaging 0.52
R1381:Kansl1l UTSW 1 66720904 missense probably benign 0.01
R1470:Kansl1l UTSW 1 66801997 missense possibly damaging 0.82
R1470:Kansl1l UTSW 1 66801997 missense possibly damaging 0.82
R1759:Kansl1l UTSW 1 66801888 missense probably damaging 0.96
R1840:Kansl1l UTSW 1 66778032 missense probably damaging 1.00
R2299:Kansl1l UTSW 1 66773477 missense probably damaging 1.00
R2888:Kansl1l UTSW 1 66724605 missense probably benign 0.13
R2893:Kansl1l UTSW 1 66801334 missense probably damaging 1.00
R3735:Kansl1l UTSW 1 66801250 missense possibly damaging 0.90
R4249:Kansl1l UTSW 1 66773478 missense probably damaging 1.00
R4448:Kansl1l UTSW 1 66738159 missense probably damaging 0.99
R4710:Kansl1l UTSW 1 66801496 missense possibly damaging 0.66
R4768:Kansl1l UTSW 1 66801133 missense probably damaging 0.98
R5523:Kansl1l UTSW 1 66802112 missense probably benign 0.00
R5645:Kansl1l UTSW 1 66801344 missense probably benign 0.27
R5840:Kansl1l UTSW 1 66770215 intron probably benign
R5964:Kansl1l UTSW 1 66725922 missense probably damaging 1.00
R5990:Kansl1l UTSW 1 66735726 missense probably damaging 0.98
R6009:Kansl1l UTSW 1 66735600 missense probably benign 0.00
R6051:Kansl1l UTSW 1 66726726 missense probably null 1.00
R6092:Kansl1l UTSW 1 66773484 missense probably damaging 1.00
R6316:Kansl1l UTSW 1 66735585 missense probably benign
R6402:Kansl1l UTSW 1 66762193 missense probably damaging 0.99
R6906:Kansl1l UTSW 1 66723278 missense possibly damaging 0.76
Posted On2014-01-21