Incidental Mutation 'R6261:Kansl3'
ID 506669
Institutional Source Beutler Lab
Gene Symbol Kansl3
Ensembl Gene ENSMUSG00000010453
Gene Name KAT8 regulatory NSL complex subunit 3
Synonyms 4632411B12Rik
MMRRC Submission 044404-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R6261 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 36374811-36408262 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36404686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 88 (V88A)
Ref Sequence ENSEMBL: ENSMUSP00000140597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010597] [ENSMUST00000185621] [ENSMUST00000185912] [ENSMUST00000186470] [ENSMUST00000187628] [ENSMUST00000188528] [ENSMUST00000188957] [ENSMUST00000188961]
AlphaFold A2RSY1
Predicted Effect probably benign
Transcript: ENSMUST00000010597
AA Change: V88A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000010597
Gene: ENSMUSG00000010453
AA Change: V88A

DomainStartEndE-ValueType
low complexity region 113 125 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
low complexity region 271 285 N/A INTRINSIC
Pfam:Abhydrolase_5 288 436 2e-9 PFAM
low complexity region 523 555 N/A INTRINSIC
low complexity region 669 697 N/A INTRINSIC
low complexity region 718 732 N/A INTRINSIC
low complexity region 735 751 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185614
Predicted Effect probably benign
Transcript: ENSMUST00000185621
Predicted Effect probably benign
Transcript: ENSMUST00000185912
SMART Domains Protein: ENSMUSP00000140547
Gene: ENSMUSG00000010453

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
low complexity region 139 150 N/A INTRINSIC
low complexity region 172 186 N/A INTRINSIC
Pfam:Abhydrolase_5 189 337 9.3e-8 PFAM
low complexity region 424 456 N/A INTRINSIC
low complexity region 570 598 N/A INTRINSIC
low complexity region 619 633 N/A INTRINSIC
low complexity region 636 652 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186470
AA Change: V88A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000140597
Gene: ENSMUSG00000010453
AA Change: V88A

DomainStartEndE-ValueType
low complexity region 113 125 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
low complexity region 271 285 N/A INTRINSIC
Pfam:Abhydrolase_5 288 436 2.2e-9 PFAM
low complexity region 523 555 N/A INTRINSIC
low complexity region 578 586 N/A INTRINSIC
low complexity region 695 723 N/A INTRINSIC
low complexity region 744 758 N/A INTRINSIC
low complexity region 761 777 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187628
Predicted Effect silent
Transcript: ENSMUST00000188528
Predicted Effect probably benign
Transcript: ENSMUST00000188957
Predicted Effect probably benign
Transcript: ENSMUST00000188961
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 T C 2: 164,636,979 (GRCm39) D257G probably damaging Het
Adamtsl1 T C 4: 86,255,115 (GRCm39) V736A probably benign Het
Anln A G 9: 22,275,342 (GRCm39) L521S probably damaging Het
Arfgap2 T G 2: 91,100,627 (GRCm39) S311A probably benign Het
Brdt A T 5: 107,496,369 (GRCm39) E160D probably benign Het
Ccdc187 A G 2: 26,166,215 (GRCm39) I738T probably damaging Het
Cd59a G C 2: 103,934,550 (GRCm39) G6A probably damaging Het
Cd5l C T 3: 87,275,915 (GRCm39) P295L probably benign Het
Cdhr17 T C 5: 17,017,183 (GRCm39) noncoding transcript Het
Cnot1 A G 8: 96,468,549 (GRCm39) S1432P probably benign Het
Cnot8 T A 11: 58,004,877 (GRCm39) I192N probably damaging Het
Col4a1 G T 8: 11,257,409 (GRCm39) probably null Het
Cuta A G 17: 27,158,301 (GRCm39) L11P possibly damaging Het
Cyp2c39 G A 19: 39,556,463 (GRCm39) R433H probably damaging Het
Cyp4a12b T A 4: 115,271,740 (GRCm39) Y150* probably null Het
Dcaf15 G A 8: 84,825,734 (GRCm39) A291V probably benign Het
Dcstamp A T 15: 39,618,131 (GRCm39) H180L possibly damaging Het
Egfr A G 11: 16,839,964 (GRCm39) I659M probably benign Het
Fzd8 A G 18: 9,214,598 (GRCm39) E560G possibly damaging Het
Gm5111 A T 6: 48,566,526 (GRCm39) probably benign Het
Gm7945 T C 14: 41,104,780 (GRCm39) T214A unknown Het
Gpi1 T C 7: 33,920,170 (GRCm39) T168A possibly damaging Het
Gys2 T C 6: 142,405,134 (GRCm39) I218V probably benign Het
Gzmf T A 14: 56,443,949 (GRCm39) I74L probably benign Het
Hacl1 G A 14: 31,357,728 (GRCm39) A70V probably damaging Het
Herc2 T A 7: 55,846,820 (GRCm39) L3590* probably null Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Igfals G T 17: 25,100,339 (GRCm39) V477F possibly damaging Het
Igkv8-28 A T 6: 70,120,874 (GRCm39) V23E probably benign Het
Isg20l2 T A 3: 87,839,395 (GRCm39) V202E probably damaging Het
Jakmip2 A G 18: 43,708,599 (GRCm39) I288T probably benign Het
Kcna3 A G 3: 106,945,266 (GRCm39) T510A possibly damaging Het
Map2k5 G T 9: 63,245,380 (GRCm39) L140I probably benign Het
Map3k19 A G 1: 127,750,336 (GRCm39) I1005T possibly damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Ms4a14 T A 19: 11,281,384 (GRCm39) E391D probably benign Het
Mtrf1l A G 10: 5,765,550 (GRCm39) probably null Het
Myom1 A G 17: 71,433,132 (GRCm39) N1591S probably damaging Het
Nos1 G A 5: 118,074,635 (GRCm39) V1060M probably benign Het
Nsun5 C T 5: 135,400,385 (GRCm39) T142M probably damaging Het
Odc1 A G 12: 17,600,655 (GRCm39) E430G probably benign Het
Or8g36 C A 9: 39,422,105 (GRCm39) V304F probably benign Het
P2ry12 T C 3: 59,125,328 (GRCm39) I116V probably null Het
Patl1 T A 19: 11,897,695 (GRCm39) V94E probably damaging Het
Plin3 A T 17: 56,588,488 (GRCm39) Y255* probably null Het
Pou6f1 T C 15: 100,477,827 (GRCm39) T439A probably damaging Het
Prdm13 T C 4: 21,678,366 (GRCm39) K708R probably damaging Het
Prr14l A G 5: 32,986,748 (GRCm39) S916P possibly damaging Het
Rab34 T A 11: 78,082,028 (GRCm39) probably null Het
Rps7 A G 12: 28,685,593 (GRCm39) S21P possibly damaging Het
Scn9a A T 2: 66,314,240 (GRCm39) L1815Q probably damaging Het
Sesn3 A G 9: 14,232,459 (GRCm39) Y244C probably benign Het
Slc15a2 A G 16: 36,581,973 (GRCm39) F284L probably benign Het
Slc25a44 C T 3: 88,328,218 (GRCm39) G72D probably damaging Het
Slco6d1 A G 1: 98,427,588 (GRCm39) T640A probably benign Het
Sspo A T 6: 48,439,125 (GRCm39) E1591V possibly damaging Het
Tbata C A 10: 61,011,644 (GRCm39) T60K possibly damaging Het
Tbc1d2 T A 4: 46,637,692 (GRCm39) T185S possibly damaging Het
Tlcd4 T A 3: 121,028,708 (GRCm39) I60F possibly damaging Het
Tmem87a A G 2: 120,234,502 (GRCm39) S14P possibly damaging Het
Tnnt2 C A 1: 135,778,292 (GRCm39) probably null Het
Trex1 A G 9: 108,887,709 (GRCm39) V94A probably benign Het
Ubtfl1 A C 9: 18,320,592 (GRCm39) D40A possibly damaging Het
Zc3hav1 A T 6: 38,309,935 (GRCm39) Y296N probably benign Het
Zfp521 T A 18: 13,977,684 (GRCm39) N910Y probably damaging Het
Zfp53 A G 17: 21,728,975 (GRCm39) E336G possibly damaging Het
Other mutations in Kansl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Kansl3 APN 1 36,407,070 (GRCm39) start gained probably benign
IGL02277:Kansl3 APN 1 36,388,028 (GRCm39) missense possibly damaging 0.85
IGL02423:Kansl3 APN 1 36,391,050 (GRCm39) missense probably damaging 1.00
R0147:Kansl3 UTSW 1 36,392,897 (GRCm39) missense probably damaging 1.00
R0148:Kansl3 UTSW 1 36,392,897 (GRCm39) missense probably damaging 1.00
R0255:Kansl3 UTSW 1 36,384,050 (GRCm39) missense probably benign 0.01
R0279:Kansl3 UTSW 1 36,391,050 (GRCm39) missense probably damaging 0.99
R0349:Kansl3 UTSW 1 36,390,864 (GRCm39) missense probably damaging 1.00
R1452:Kansl3 UTSW 1 36,393,874 (GRCm39) splice site probably benign
R1599:Kansl3 UTSW 1 36,406,951 (GRCm39) missense probably damaging 1.00
R1842:Kansl3 UTSW 1 36,390,825 (GRCm39) missense probably damaging 1.00
R2310:Kansl3 UTSW 1 36,382,445 (GRCm39) missense probably damaging 1.00
R4093:Kansl3 UTSW 1 36,384,035 (GRCm39) missense probably damaging 1.00
R4961:Kansl3 UTSW 1 36,387,764 (GRCm39) critical splice acceptor site probably null
R5339:Kansl3 UTSW 1 36,406,802 (GRCm39) intron probably benign
R5400:Kansl3 UTSW 1 36,397,230 (GRCm39) missense possibly damaging 0.93
R5564:Kansl3 UTSW 1 36,385,045 (GRCm39) missense possibly damaging 0.55
R5661:Kansl3 UTSW 1 36,388,038 (GRCm39) missense possibly damaging 0.55
R5965:Kansl3 UTSW 1 36,384,601 (GRCm39) splice site probably null
R6185:Kansl3 UTSW 1 36,385,099 (GRCm39) missense probably damaging 0.96
R6706:Kansl3 UTSW 1 36,383,995 (GRCm39) critical splice donor site probably null
R7055:Kansl3 UTSW 1 36,404,701 (GRCm39) missense possibly damaging 0.86
R7134:Kansl3 UTSW 1 36,390,848 (GRCm39) missense possibly damaging 0.52
R7362:Kansl3 UTSW 1 36,383,208 (GRCm39) missense possibly damaging 0.82
R7461:Kansl3 UTSW 1 36,382,876 (GRCm39) missense probably damaging 1.00
R7571:Kansl3 UTSW 1 36,404,668 (GRCm39) missense possibly damaging 0.55
R7613:Kansl3 UTSW 1 36,382,876 (GRCm39) missense probably damaging 1.00
R7775:Kansl3 UTSW 1 36,387,758 (GRCm39) missense probably damaging 0.99
R7778:Kansl3 UTSW 1 36,387,758 (GRCm39) missense probably damaging 0.99
R8345:Kansl3 UTSW 1 36,387,897 (GRCm39) critical splice donor site probably null
R9017:Kansl3 UTSW 1 36,393,861 (GRCm39) missense probably benign 0.02
R9285:Kansl3 UTSW 1 36,383,148 (GRCm39) splice site probably benign
R9286:Kansl3 UTSW 1 36,387,720 (GRCm39) missense probably benign 0.01
R9287:Kansl3 UTSW 1 36,388,497 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAACATTAGCTGCAAACTGGC -3'
(R):5'- GTAATGACCTTGCCTTTCCCAG -3'

Sequencing Primer
(F):5'- TTAGCTGCAAACTGGCCAATCTATC -3'
(R):5'- TTTCCCAGGCACACAGC -3'
Posted On 2018-03-15