Incidental Mutation 'IGL02549:Kansl1l'
ID297975
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? Probably non essential (E-score: 0.243) question?
Stock #IGL02549
Quality Score
Status
Chromosome1
Chromosomal Location66719248-66817562 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 66801968 bp
ZygosityHeterozygous
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]
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: 110,102,053 E1595G probably damaging Het
Adnp2 G A 18: 80,129,118 A692V probably damaging Het
Als2cr12 T C 1: 58,659,282 T326A probably benign Het
Ankk1 A G 9: 49,418,693 S321P probably damaging Het
Ankrd11 T C 8: 122,891,293 Y1919C probably damaging Het
Atp10a A G 7: 58,819,733 T1111A probably benign Het
Avpr1a A T 10: 122,452,164 H359L possibly damaging Het
C1rl A T 6: 124,493,837 I35F possibly damaging Het
Casp8 G A 1: 58,833,766 C287Y probably benign Het
Ccdc88c A T 12: 100,928,932 S1437T probably benign Het
Cd200r1 C T 16: 44,789,978 P150S probably damaging Het
Col2a1 G A 15: 97,977,799 R1202C unknown Het
Copb1 A T 7: 114,246,797 D179E probably benign Het
Cyp2c29 C T 19: 39,309,785 T258I possibly damaging Het
Gemin5 T C 11: 58,134,803 Y991C probably damaging Het
Gm4978 T C 9: 69,450,359 probably benign Het
Gm7732 A T 17: 21,129,387 noncoding transcript Het
Gucy2f T C X: 142,160,204 I478V probably benign Het
Herc1 A G 9: 66,399,901 H1001R probably damaging Het
Igsf10 A G 3: 59,329,241 V1173A probably benign Het
Kcnk13 A T 12: 100,061,751 K362* probably null Het
Lama1 T G 17: 67,790,835 L1737V possibly damaging Het
Lama4 A G 10: 39,060,204 N625S probably benign Het
Loxl1 A T 9: 58,293,638 C514S probably damaging Het
Muc13 A C 16: 33,807,969 E363A probably damaging Het
Noxo1 G T 17: 24,700,171 G289V probably damaging Het
Nudt7 G T 8: 114,151,948 D239Y probably damaging Het
Polr3e G T 7: 120,939,759 V407F probably damaging Het
Pou5f2 T A 13: 78,025,590 L217Q probably damaging Het
R3hdm2 A G 10: 127,484,225 probably benign Het
Rab11fip3 A C 17: 25,994,320 N793K probably damaging Het
Ranbp3l A G 15: 8,968,441 R6G possibly damaging Het
Slco1a6 T A 6: 142,096,415 probably benign Het
Sspo A G 6: 48,451,773 E374G possibly damaging Het
Tg T C 15: 66,839,361 Y991H probably damaging Het
Tnc A G 4: 64,015,072 Y652H probably damaging Het
Trpc4 G A 3: 54,222,349 V179I possibly damaging Het
Xirp2 A G 2: 67,513,102 T1896A probably benign Het
Zfhx3 T C 8: 108,800,509 Y1013H probably damaging 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
IGL01644:Kansl1l APN 1 66801316 missense probably benign 0.01
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
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
arkansasii UTSW 1 66762103 missense probably damaging 1.00
Kansasii UTSW 1 66778106 missense probably null 0.41
PIT4810001:Kansl1l UTSW 1 66762149 missense probably damaging 1.00
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 1.00
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
R7241:Kansl1l UTSW 1 66801628 missense possibly damaging 0.91
R7434:Kansl1l UTSW 1 66762103 missense probably damaging 1.00
R7716:Kansl1l UTSW 1 66801133 missense probably damaging 1.00
R7793:Kansl1l UTSW 1 66778014 missense probably damaging 1.00
Posted On2015-04-16