Incidental Mutation 'R7461:Kansl3'
ID 578427
Institutional Source Beutler Lab
Gene Symbol Kansl3
Ensembl Gene ENSMUSG00000010453
Gene Name KAT8 regulatory NSL complex subunit 3
Synonyms 4632411B12Rik
MMRRC Submission 045535-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R7461 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 36374811-36408262 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36382876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 812 (S812F)
Ref Sequence ENSEMBL: ENSMUSP00000140597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010597] [ENSMUST00000185912] [ENSMUST00000186470] [ENSMUST00000188961]
AlphaFold A2RSY1
Predicted Effect probably damaging
Transcript: ENSMUST00000010597
AA Change: S786F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000010597
Gene: ENSMUSG00000010453
AA Change: S786F

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 probably damaging
Transcript: ENSMUST00000185912
AA Change: S687F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140547
Gene: ENSMUSG00000010453
AA Change: S687F

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 damaging
Transcript: ENSMUST00000186470
AA Change: S812F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140597
Gene: ENSMUSG00000010453
AA Change: S812F

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: ENSMUST00000188961
Meta Mutation Damage Score 0.1890 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Adgrb2 CTATA CTATATA 4: 129,915,006 (GRCm39) probably benign Het
Akt2 A G 7: 27,336,595 (GRCm39) I448V probably benign Het
Anapc5 G A 5: 122,956,928 (GRCm39) T117M probably damaging Het
Arhgap10 T C 8: 78,115,326 (GRCm39) E358G probably damaging Het
C1qtnf6 T A 15: 78,411,549 (GRCm39) K42N probably benign Het
Cacna1d A T 14: 29,788,120 (GRCm39) D1605E probably benign Het
Cdkl1 T A 12: 69,803,235 (GRCm39) I214L probably benign Het
Celsr2 C T 3: 108,302,956 (GRCm39) G2506R probably damaging Het
Cenpj G A 14: 56,764,501 (GRCm39) R1304* probably null Het
Cfap58 A G 19: 47,970,561 (GRCm39) D593G possibly damaging Het
Crip2 T C 12: 113,107,777 (GRCm39) probably null Het
Crocc2 G T 1: 93,122,311 (GRCm39) A735S possibly damaging Het
Dcc A T 18: 71,439,105 (GRCm39) L1279H probably damaging Het
Dnah2 A G 11: 69,439,816 (GRCm39) probably null Het
Dpp8 C T 9: 64,960,402 (GRCm39) T311M possibly damaging Het
Eps15 T C 4: 109,186,922 (GRCm39) S330P probably damaging Het
Exoc2 C T 13: 31,066,255 (GRCm39) V474I probably benign Het
Fmn1 A G 2: 113,194,416 (GRCm39) T39A unknown Het
Foxn2 T C 17: 88,794,311 (GRCm39) I416T possibly damaging Het
Gbp8 T C 5: 105,178,880 (GRCm39) E145G probably damaging Het
Gjd2 A C 2: 113,841,599 (GRCm39) S293A possibly damaging Het
Gm3676 T A 14: 41,365,233 (GRCm39) I141L probably benign Het
Gm4131 A G 14: 62,718,538 (GRCm39) Y23H possibly damaging Het
Gucy1b1 T A 3: 81,947,054 (GRCm39) D385V possibly damaging Het
Hdac2 T C 10: 36,865,232 (GRCm39) S149P probably damaging Het
Igsf9b A T 9: 27,245,418 (GRCm39) R1128S probably benign Het
Invs A G 4: 48,392,668 (GRCm39) H294R probably damaging Het
Itgbl1 T A 14: 124,065,211 (GRCm39) S122T possibly damaging Het
Kcnt1 A T 2: 25,791,358 (GRCm39) H567L probably benign Het
Klhl30 G T 1: 91,285,130 (GRCm39) V329F possibly damaging Het
Krt33a A G 11: 99,902,765 (GRCm39) I353T probably damaging Het
Lrrc37 G T 11: 103,507,116 (GRCm39) H1617Q unknown Het
Lrrc7 T C 3: 157,892,657 (GRCm39) T331A probably benign Het
Megf10 G T 18: 57,385,925 (GRCm39) V313F probably damaging Het
Myo15a A G 11: 60,395,978 (GRCm39) T1438A Het
Myocd A G 11: 65,109,429 (GRCm39) L114P probably damaging Het
Or5b21 A T 19: 12,839,141 (GRCm39) M1L probably benign Het
Pde4b A G 4: 102,112,503 (GRCm39) E29G probably damaging Het
Por G T 5: 135,758,358 (GRCm39) A112S probably damaging Het
Prkcq T C 2: 11,304,221 (GRCm39) F651S probably damaging Het
Selenoi A G 5: 30,471,926 (GRCm39) I376V possibly damaging Het
Setbp1 A C 18: 78,899,707 (GRCm39) M1320R probably benign Het
Skint6 A T 4: 113,034,243 (GRCm39) probably null Het
Tdrd6 T C 17: 43,938,817 (GRCm39) T744A probably benign Het
Tmem209 C T 6: 30,508,469 (GRCm39) W61* probably null Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Top1 A T 2: 160,554,762 (GRCm39) probably null Het
Tradd T C 8: 105,987,196 (GRCm39) K37E possibly damaging Het
Ttc28 C A 5: 111,371,995 (GRCm39) L846M probably damaging Het
Umodl1 T A 17: 31,207,031 (GRCm39) C807* probably null Het
Upf2 T A 2: 5,978,347 (GRCm39) S404T unknown Het
Wscd1 T C 11: 71,650,799 (GRCm39) L42P 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
R6261:Kansl3 UTSW 1 36,404,686 (GRCm39) missense probably benign 0.01
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
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'- CAGGTTCCACAGAGCTGAATC -3'
(R):5'- CTTGCTTGCCATGTGCTGAG -3'

Sequencing Primer
(F):5'- TTGCCTATCTAAGACCTGGAAATACC -3'
(R):5'- CCATGTGCTGAGTGGGCTC -3'
Posted On 2019-10-07