Incidental Mutation 'IGL02707:Kansl1l'
ID 304404
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 # IGL02707
Quality Score
Status
Chromosome 1
Chromosomal Location 66758407-66856721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 66812604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 125 (L125F)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068168] [ENSMUST00000113987]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000068168
AA Change: L470F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063843
Gene: ENSMUSG00000026004
AA Change: L470F

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 damaging
Transcript: ENSMUST00000113987
AA Change: L470F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109620
Gene: ENSMUSG00000026004
AA Change: L470F

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 damaging
Transcript: ENSMUST00000129190
AA Change: L125F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118603
Gene: ENSMUSG00000026004
AA Change: L125F

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: ENSMUST00000191945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195562
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,928 (GRCm39) T149A probably benign Het
4932414N04Rik A C 2: 68,561,474 (GRCm39) Q267P possibly damaging Het
Actr5 T C 2: 158,478,617 (GRCm39) V489A probably benign Het
Adam26b T C 8: 43,972,895 (GRCm39) probably benign Het
Aff4 A G 11: 53,290,567 (GRCm39) N509S probably benign Het
Arhgap22 C T 14: 33,085,229 (GRCm39) probably benign Het
Arhgap9 C A 10: 127,165,476 (GRCm39) H628Q probably damaging Het
Asap1 A T 15: 64,001,123 (GRCm39) I486N probably damaging Het
Asb15 A T 6: 24,558,787 (GRCm39) probably benign Het
Avil A G 10: 126,842,431 (GRCm39) D70G probably damaging Het
Cct6b T C 11: 82,645,780 (GRCm39) probably benign Het
Cep63 A T 9: 102,464,180 (GRCm39) I717K probably damaging Het
Chd4 G T 6: 125,085,730 (GRCm39) A875S probably damaging Het
Col4a4 A T 1: 82,471,237 (GRCm39) M706K unknown Het
Cr1l T C 1: 194,806,019 (GRCm39) T155A probably benign Het
Ctnna3 A G 10: 63,339,844 (GRCm39) N10S probably benign Het
Cubn A G 2: 13,450,843 (GRCm39) V854A probably damaging Het
Dgkh T C 14: 78,823,091 (GRCm39) T845A possibly damaging Het
F10 G A 8: 13,098,252 (GRCm39) A152T probably damaging Het
Gabrg3 C A 7: 56,632,439 (GRCm39) E170* probably null Het
Heatr5a A G 12: 51,968,149 (GRCm39) V829A probably benign Het
Htt T A 5: 34,987,225 (GRCm39) probably null Het
Icam4 T C 9: 20,941,770 (GRCm39) Y257H possibly damaging Het
Jph1 A G 1: 17,074,675 (GRCm39) S448P probably benign Het
Kifc1 A T 17: 34,100,467 (GRCm39) C46* probably null Het
Lce3b A G 3: 92,841,193 (GRCm39) D96G unknown Het
Mab21l1 A T 3: 55,690,505 (GRCm39) I31F possibly damaging Het
Mctp2 A G 7: 71,909,089 (GRCm39) Y75H possibly damaging Het
Mesp2 A G 7: 79,461,274 (GRCm39) I200V probably benign Het
Msr1 T C 8: 40,085,870 (GRCm39) probably benign Het
Mtfr2 C T 10: 20,224,084 (GRCm39) T6I probably benign Het
Myo5b T C 18: 74,828,438 (GRCm39) probably benign Het
Myoc T A 1: 162,467,029 (GRCm39) I66N probably benign Het
Or10d1b T C 9: 39,613,937 (GRCm39) I43V probably damaging Het
Or4a70 A T 2: 89,324,171 (GRCm39) Y162N probably damaging Het
Or51k1 A C 7: 103,661,609 (GRCm39) L100W probably damaging Het
Or52n20 T C 7: 104,320,136 (GRCm39) C76R probably damaging Het
Or52n2b A G 7: 104,565,859 (GRCm39) C215R probably damaging Het
Or7a39 T C 10: 78,715,759 (GRCm39) L251S probably damaging Het
Per2 T C 1: 91,378,450 (GRCm39) D33G possibly damaging Het
Pknox1 A G 17: 31,821,793 (GRCm39) I295V possibly damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rhot2 A G 17: 26,063,270 (GRCm39) S19P probably damaging Het
Rps6kb1 C A 11: 86,426,236 (GRCm39) probably null Het
Serpinb1b C T 13: 33,275,648 (GRCm39) T194I probably benign Het
Smarcad1 T A 6: 65,029,790 (GRCm39) probably benign Het
Stxbp4 A G 11: 90,428,759 (GRCm39) S449P probably benign Het
Thrb A C 14: 18,026,721 (GRCm38) I275L probably benign Het
Tjp1 T A 7: 64,979,431 (GRCm39) K365* probably null Het
Tjp1 T A 7: 64,979,430 (GRCm39) K365I possibly damaging Het
Tm4sf4 C A 3: 57,333,939 (GRCm39) C75* probably null Het
Tmem131 T C 1: 36,864,560 (GRCm39) T558A probably benign Het
Txndc16 T C 14: 45,399,730 (GRCm39) T408A probably benign Het
Ube2j1 T C 4: 33,038,206 (GRCm39) L38P possibly damaging Het
Urb2 T C 8: 124,757,425 (GRCm39) I1044T 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
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