Incidental Mutation 'R4710:Kansl1l'
ID 353176
Institutional Source Beutler Lab
Gene Symbol Kansl1l
Ensembl Gene ENSMUSG00000026004
Gene Name KAT8 regulatory NSL complex subunit 1-like
Synonyms 1110028C15Rik, C430010P07Rik
MMRRC Submission 042019-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R4710 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 66758407-66856721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 66840655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 215 (A215V)
Ref Sequence ENSEMBL: ENSMUSP00000063843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068168] [ENSMUST00000113987]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000068168
AA Change: A215V

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000063843
Gene: ENSMUSG00000026004
AA Change: A215V

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: A215V

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109620
Gene: ENSMUSG00000026004
AA Change: A215V

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
Meta Mutation Damage Score 0.0765 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,618,262 (GRCm39) Q185L probably benign Het
Acaca T A 11: 84,283,163 (GRCm39) I2243N possibly damaging Het
Adamts18 A G 8: 114,433,558 (GRCm39) S1059P probably damaging Het
Aox4 A T 1: 58,294,797 (GRCm39) K1002M probably damaging Het
Ap1b1 A G 11: 4,981,664 (GRCm39) Y524C probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bpifb6 T A 2: 153,750,436 (GRCm39) I309N possibly damaging Het
Cd209b T C 8: 3,974,215 (GRCm39) E99G probably damaging Het
Cntn2 T A 1: 132,455,963 (GRCm39) H185L possibly damaging Het
Col4a2 C A 8: 11,459,462 (GRCm39) P299Q probably benign Het
Commd3 A G 2: 18,679,093 (GRCm39) N106S probably benign Het
Coro7 T G 16: 4,452,797 (GRCm39) probably benign Het
Ctf1 C A 7: 127,316,252 (GRCm39) P66Q probably damaging Het
Dclre1c T C 2: 3,441,898 (GRCm39) probably null Het
Dnaaf3 A T 7: 4,529,493 (GRCm39) L317Q probably damaging Het
Dnah2 A G 11: 69,368,903 (GRCm39) L1667P probably damaging Het
Dpp4 A G 2: 62,190,659 (GRCm39) I399T probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Erg T C 16: 95,190,893 (GRCm39) D90G possibly damaging Het
F11 T C 8: 45,703,183 (GRCm39) Y169C probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fcgbp A T 7: 27,794,386 (GRCm39) M1197L probably benign Het
Gimd1 T C 3: 132,340,609 (GRCm39) S42P possibly damaging Het
Gm5526 T A 1: 45,896,579 (GRCm39) noncoding transcript Het
Gnl2 T A 4: 124,947,252 (GRCm39) S625T probably benign Het
H2-Q2 A G 17: 35,562,278 (GRCm39) E175G probably damaging Het
Hmgxb3 G A 18: 61,270,547 (GRCm39) P926S probably damaging Het
Ifi213 G A 1: 173,394,738 (GRCm39) probably benign Het
Inhba T C 13: 16,201,068 (GRCm39) V210A probably benign Het
Kcnk1 T A 8: 126,756,267 (GRCm39) V263D probably damaging Het
Kcnk9 A G 15: 72,384,824 (GRCm39) I118T probably damaging Het
Lamb1 A G 12: 31,332,582 (GRCm39) I283V probably benign Het
Larp7-ps T C 4: 92,079,212 (GRCm39) E203G possibly damaging Het
Lias A G 5: 65,555,070 (GRCm39) D88G probably benign Het
Lrrk2 G A 15: 91,584,130 (GRCm39) V297M possibly damaging Het
Maea C T 5: 33,526,034 (GRCm39) R237C probably benign Het
Mdfi T A 17: 48,135,511 (GRCm39) N73I probably damaging Het
Mphosph6 T A 8: 118,528,641 (GRCm39) M1L probably damaging Het
Mta2 T A 19: 8,926,517 (GRCm39) I486N probably damaging Het
Nbr1 C T 11: 101,466,101 (GRCm39) P769L probably damaging Het
Ncam2 T A 16: 81,262,594 (GRCm39) probably null Het
Ndel1 A G 11: 68,736,163 (GRCm39) Y26H probably damaging Het
Neb T C 2: 52,150,610 (GRCm39) R2473G probably benign Het
Or10ag53 T A 2: 87,082,384 (GRCm39) D34E possibly damaging Het
Or2t46 A T 11: 58,472,548 (GRCm39) I293F probably damaging Het
Or4c3d T C 2: 89,882,494 (GRCm39) Y58C probably damaging Het
Or5h19 T A 16: 58,856,638 (GRCm39) H154L possibly damaging Het
Or6d13 T C 6: 116,517,611 (GRCm39) Y66H possibly damaging Het
Or9a2 G T 6: 41,748,442 (GRCm39) Q264K probably benign Het
Prkn A C 17: 12,073,720 (GRCm39) Q346P possibly damaging Het
Prrc2b T A 2: 32,083,869 (GRCm39) S236R possibly damaging Het
Rae1 G T 2: 172,857,185 (GRCm39) probably benign Het
Rnf112 T C 11: 61,340,657 (GRCm39) D491G probably damaging Het
Rnf220 C T 4: 117,146,411 (GRCm39) probably benign Het
Ryr3 G A 2: 112,596,646 (GRCm39) L2483F probably damaging Het
Sema6a T C 18: 47,403,750 (GRCm39) N624S probably benign Het
Sgms1 C T 19: 32,137,537 (GRCm39) V10M probably damaging Het
Slc23a2 T C 2: 131,898,629 (GRCm39) N636S probably benign Het
Slc25a48 C T 13: 56,611,379 (GRCm39) T162I probably damaging Het
Smtn G A 11: 3,474,663 (GRCm39) S716F probably damaging Het
Snrnp200 T C 2: 127,068,053 (GRCm39) L850P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sox18 A G 2: 181,312,688 (GRCm39) Y148H probably damaging Het
Stk-ps1 A G 17: 36,708,562 (GRCm39) noncoding transcript Het
Tas2r104 T A 6: 131,662,407 (GRCm39) T101S probably damaging Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Ttn A G 2: 76,582,428 (GRCm39) Y22822H probably damaging Het
Vmn2r4 A G 3: 64,317,201 (GRCm39) probably null Het
Vmn2r53 T A 7: 12,335,129 (GRCm39) H177L probably benign Het
Zbtb20 G T 16: 43,431,039 (GRCm39) A517S probably damaging Het
Zfat A T 15: 68,052,131 (GRCm39) D554E probably benign Het
Zfp719 C T 7: 43,239,656 (GRCm39) H415Y 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
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
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
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
Predicted Primers PCR Primer
(F):5'- TGAAAGATCTTCATTGTGGGCAG -3'
(R):5'- CACAAGCCAGTGCATGAAAG -3'

Sequencing Primer
(F):5'- ATCTTCATTGTGGGCAGCTGATG -3'
(R):5'- CGTTCTGGATTCAAATCTCACCAAAG -3'
Posted On 2015-10-21