Incidental Mutation 'IGL02549:Kansl1l'
ID 297975
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 # IGL02549
Quality Score
Status
Chromosome 1
Chromosomal Location 66758407-66856721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66841127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 58 (T58A)
Ref Sequence ENSEMBL: ENSMUSP00000063843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068168] [ENSMUST00000113987]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000068168
AA Change: T58A

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063843
Gene: ENSMUSG00000026004
AA Change: T58A

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: T58A

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109620
Gene: ENSMUSG00000026004
AA Change: T58A

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 109,992,879 (GRCm39) E1595G probably damaging Het
Adnp2 G A 18: 80,172,333 (GRCm39) A692V probably damaging Het
Ankk1 A G 9: 49,329,993 (GRCm39) S321P probably damaging Het
Ankrd11 T C 8: 123,618,032 (GRCm39) Y1919C probably damaging Het
Atp10a A G 7: 58,469,481 (GRCm39) T1111A probably benign Het
Avpr1a A T 10: 122,288,069 (GRCm39) H359L possibly damaging Het
C1rl A T 6: 124,470,796 (GRCm39) I35F possibly damaging Het
Casp8 G A 1: 58,872,925 (GRCm39) C287Y probably benign Het
Ccdc88c A T 12: 100,895,191 (GRCm39) S1437T probably benign Het
Cd200r1 C T 16: 44,610,341 (GRCm39) P150S probably damaging Het
Col2a1 G A 15: 97,875,680 (GRCm39) R1202C unknown Het
Copb1 A T 7: 113,846,032 (GRCm39) D179E probably benign Het
Cyp2c29 C T 19: 39,298,229 (GRCm39) T258I possibly damaging Het
Flacc1 T C 1: 58,698,441 (GRCm39) T326A probably benign Het
Gemin5 T C 11: 58,025,629 (GRCm39) Y991C probably damaging Het
Gm4978 T C 9: 69,357,641 (GRCm39) probably benign Het
Gm7732 A T 17: 21,349,649 (GRCm39) noncoding transcript Het
Gucy2f T C X: 140,943,200 (GRCm39) I478V probably benign Het
Herc1 A G 9: 66,307,183 (GRCm39) H1001R probably damaging Het
Igsf10 A G 3: 59,236,662 (GRCm39) V1173A probably benign Het
Kcnk13 A T 12: 100,028,010 (GRCm39) K362* probably null Het
Lama1 T G 17: 68,097,830 (GRCm39) L1737V possibly damaging Het
Lama4 A G 10: 38,936,200 (GRCm39) N625S probably benign Het
Loxl1 A T 9: 58,200,921 (GRCm39) C514S probably damaging Het
Muc13 A C 16: 33,628,339 (GRCm39) E363A probably damaging Het
Noxo1 G T 17: 24,919,145 (GRCm39) G289V probably damaging Het
Nudt7 G T 8: 114,878,688 (GRCm39) D239Y probably damaging Het
Polr3e G T 7: 120,538,982 (GRCm39) V407F probably damaging Het
Pou5f2 T A 13: 78,173,709 (GRCm39) L217Q probably damaging Het
R3hdm2 A G 10: 127,320,094 (GRCm39) probably benign Het
Rab11fip3 A C 17: 26,213,294 (GRCm39) N793K probably damaging Het
Ranbp3l A G 15: 8,997,925 (GRCm39) R6G possibly damaging Het
Slco1a6 T A 6: 142,042,141 (GRCm39) probably benign Het
Sspo A G 6: 48,428,707 (GRCm39) E374G possibly damaging Het
Tg T C 15: 66,711,210 (GRCm39) Y991H probably damaging Het
Tnc A G 4: 63,933,309 (GRCm39) Y652H probably damaging Het
Trpc4 G A 3: 54,129,770 (GRCm39) V179I possibly damaging Het
Xirp2 A G 2: 67,343,446 (GRCm39) T1896A probably benign Het
Zfhx3 T C 8: 109,527,141 (GRCm39) Y1013H probably damaging 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
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
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 2015-04-16