Incidental Mutation 'R9192:Kansl1'
ID 697758
Institutional Source Beutler Lab
Gene Symbol Kansl1
Ensembl Gene ENSMUSG00000018412
Gene Name KAT8 regulatory NSL complex subunit 1
Synonyms 1700081L11Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9192 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 104224055-104359687 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104227142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 845 (D845E)
Ref Sequence ENSEMBL: ENSMUSP00000102590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018556] [ENSMUST00000106971] [ENSMUST00000106972] [ENSMUST00000106977] [ENSMUST00000106992]
AlphaFold Q80TG1
Predicted Effect probably damaging
Transcript: ENSMUST00000018556
AA Change: D845E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018556
Gene: ENSMUSG00000018412
AA Change: D845E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 164 175 N/A INTRINSIC
low complexity region 245 256 N/A INTRINSIC
coiled coil region 283 311 N/A INTRINSIC
low complexity region 404 417 N/A INTRINSIC
low complexity region 759 772 N/A INTRINSIC
PEHE 816 966 1.53e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106971
AA Change: D908E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102584
Gene: ENSMUSG00000018412
AA Change: D908E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 164 175 N/A INTRINSIC
low complexity region 245 256 N/A INTRINSIC
coiled coil region 283 311 N/A INTRINSIC
low complexity region 404 417 N/A INTRINSIC
low complexity region 822 835 N/A INTRINSIC
PEHE 879 1029 1.53e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106972
AA Change: D908E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102585
Gene: ENSMUSG00000018412
AA Change: D908E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 164 175 N/A INTRINSIC
low complexity region 245 256 N/A INTRINSIC
coiled coil region 283 311 N/A INTRINSIC
low complexity region 404 417 N/A INTRINSIC
low complexity region 822 835 N/A INTRINSIC
PEHE 879 1029 1.53e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106977
AA Change: D845E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102590
Gene: ENSMUSG00000018412
AA Change: D845E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 164 175 N/A INTRINSIC
low complexity region 245 256 N/A INTRINSIC
coiled coil region 283 311 N/A INTRINSIC
low complexity region 404 417 N/A INTRINSIC
low complexity region 759 772 N/A INTRINSIC
PEHE 816 966 1.53e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106992
SMART Domains Protein: ENSMUSP00000102605
Gene: ENSMUSG00000018411

DomainStartEndE-ValueType
low complexity region 69 81 N/A INTRINSIC
low complexity region 105 154 N/A INTRINSIC
Pfam:Tubulin-binding 174 205 6.1e-19 PFAM
Pfam:Tubulin-binding 206 236 1.5e-21 PFAM
Pfam:Tubulin-binding 237 267 6.9e-20 PFAM
Pfam:Tubulin-binding 268 299 4.7e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]
Allele List at MGI

All alleles(136) : Gene trapped(136)

Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T A 7: 75,354,249 (GRCm39) M71K probably benign Het
Angptl4 C T 17: 34,000,285 (GRCm39) A28T probably benign Het
Baz1b T G 5: 135,239,648 (GRCm39) N249K possibly damaging Het
BC035947 A T 1: 78,475,877 (GRCm39) Y218* probably null Het
Ctbp1 T C 5: 33,408,333 (GRCm39) I211V probably benign Het
Dars1 T C 1: 128,299,889 (GRCm39) E365G probably benign Het
E2f7 G T 10: 110,599,851 (GRCm39) R202L probably damaging Het
Fscb A C 12: 64,520,890 (GRCm39) I192S possibly damaging Het
Fsip2 A G 2: 82,817,844 (GRCm39) I4526V probably benign Het
Gucy2e A T 11: 69,127,303 (GRCm39) F57I probably damaging Het
Hcar2 A T 5: 124,003,354 (GRCm39) C50S possibly damaging Het
Herc1 G A 9: 66,321,413 (GRCm39) V1267I probably benign Het
Kdm2b T A 5: 123,070,679 (GRCm39) T473S probably benign Het
Klhdc10 T A 6: 30,449,499 (GRCm39) I327N probably damaging Het
Kmt5b T C 19: 3,854,442 (GRCm39) L235P probably damaging Het
Lama2 C T 10: 27,204,181 (GRCm39) E486K possibly damaging Het
Lhx6 A T 2: 35,981,145 (GRCm39) W266R probably benign Het
Mettl15 A T 2: 109,104,810 (GRCm39) L65* probably null Het
Mocos A G 18: 24,812,594 (GRCm39) Q496R probably benign Het
Neb T C 2: 52,203,847 (GRCm39) S285G probably damaging Het
Nos3 A G 5: 24,582,611 (GRCm39) N613S probably benign Het
Nphs2 G A 1: 156,138,386 (GRCm39) R10Q probably benign Het
Or2ag16 A G 7: 106,352,430 (GRCm39) L55P probably damaging Het
Or4x13 C A 2: 90,231,716 (GRCm39) T237N probably damaging Het
Or51i2 A T 7: 103,689,875 (GRCm39) I291F possibly damaging Het
Osbpl10 T C 9: 114,996,294 (GRCm39) C119R probably damaging Het
Otop1 T C 5: 38,445,274 (GRCm39) V144A probably benign Het
Ovca2 A G 11: 75,068,862 (GRCm39) V179A possibly damaging Het
Pcdha11 A G 18: 37,140,527 (GRCm39) T719A probably benign Het
Pcdhga1 A G 18: 37,973,084 (GRCm39) N900D probably damaging Het
Pcdhga8 A T 18: 37,859,163 (GRCm39) Q73L probably damaging Het
Pclo A G 5: 14,590,204 (GRCm39) K835E unknown Het
Psmd2 T A 16: 20,473,412 (GRCm39) Y158N probably damaging Het
Pygl A G 12: 70,243,822 (GRCm39) V631A probably damaging Het
Rhoq A T 17: 87,304,405 (GRCm39) I179F Het
Rnf26rt T C 6: 76,473,566 (GRCm39) D350G probably benign Het
Rps6kb1 T C 11: 86,404,381 (GRCm39) I257M probably damaging Het
Sall3 G A 18: 81,017,124 (GRCm39) A268V probably benign Het
Serinc4 G A 2: 121,287,250 (GRCm39) probably benign Het
Slc27a2 T A 2: 126,429,807 (GRCm39) M605K probably damaging Het
Slc5a7 T C 17: 54,594,389 (GRCm39) I197M probably benign Het
Slc6a7 A G 18: 61,133,649 (GRCm39) Y516H probably damaging Het
Spag16 A G 1: 69,963,007 (GRCm39) T385A unknown Het
Stat6 G A 10: 127,493,479 (GRCm39) R600H probably damaging Het
Stk32b A G 5: 37,786,344 (GRCm39) V40A probably damaging Het
Sv2c T A 13: 96,224,755 (GRCm39) I185L probably benign Het
Syne2 T A 12: 76,156,703 (GRCm39) L2115H probably damaging Het
Tas2r121 T C 6: 132,677,492 (GRCm39) E160G probably benign Het
Tle1 G T 4: 72,036,753 (GRCm39) T727K probably benign Het
Tmem79 A T 3: 88,240,764 (GRCm39) D61E probably benign Het
Tnrc18 C A 5: 142,773,602 (GRCm39) R409L Het
Tnrc6a C A 7: 122,789,176 (GRCm39) P1665Q probably damaging Het
Tns2 C A 15: 102,021,416 (GRCm39) P1027Q probably damaging Het
Trav7-5 C G 14: 53,768,615 (GRCm39) A61G probably benign Het
Ttn A G 2: 76,745,255 (GRCm39) S5265P possibly damaging Het
Tuba1c T A 15: 98,935,737 (GRCm39) Y399* probably null Het
Vav2 A T 2: 27,172,394 (GRCm39) I504N probably damaging Het
Vmn2r5 G T 3: 64,398,938 (GRCm39) C680* probably null Het
Zfp644 G C 5: 106,785,829 (GRCm39) S239R probably benign Het
Zfp954 C T 7: 7,118,933 (GRCm39) G204S probably damaging Het
Zswim8 C T 14: 20,769,588 (GRCm39) T1265I probably damaging Het
Other mutations in Kansl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Kansl1 APN 11 104,315,292 (GRCm39) missense probably damaging 0.96
IGL00658:Kansl1 APN 11 104,248,352 (GRCm39) missense probably benign 0.10
IGL00688:Kansl1 APN 11 104,315,892 (GRCm39) missense probably damaging 1.00
IGL01121:Kansl1 APN 11 104,226,422 (GRCm39) missense probably benign 0.01
IGL01624:Kansl1 APN 11 104,315,378 (GRCm39) missense probably benign 0.13
IGL02187:Kansl1 APN 11 104,269,657 (GRCm39) splice site probably null
IGL02711:Kansl1 APN 11 104,226,401 (GRCm39) missense probably damaging 1.00
IGL02965:Kansl1 APN 11 104,225,991 (GRCm39) missense probably damaging 0.99
kansas UTSW 11 104,314,958 (GRCm39) missense possibly damaging 0.94
wichita UTSW 11 104,247,593 (GRCm39) missense possibly damaging 0.90
NA:Kansl1 UTSW 11 104,233,193 (GRCm39) missense probably benign 0.09
R0399:Kansl1 UTSW 11 104,314,958 (GRCm39) missense possibly damaging 0.94
R0611:Kansl1 UTSW 11 104,229,012 (GRCm39) missense probably benign 0.31
R0665:Kansl1 UTSW 11 104,234,364 (GRCm39) missense probably benign
R0667:Kansl1 UTSW 11 104,234,364 (GRCm39) missense probably benign
R0747:Kansl1 UTSW 11 104,233,802 (GRCm39) missense probably benign 0.00
R0865:Kansl1 UTSW 11 104,315,194 (GRCm39) missense probably benign 0.08
R1479:Kansl1 UTSW 11 104,233,242 (GRCm39) missense probably damaging 1.00
R1679:Kansl1 UTSW 11 104,314,822 (GRCm39) missense probably damaging 1.00
R1818:Kansl1 UTSW 11 104,233,283 (GRCm39) missense possibly damaging 0.80
R1922:Kansl1 UTSW 11 104,234,466 (GRCm39) missense probably damaging 1.00
R1932:Kansl1 UTSW 11 104,225,923 (GRCm39) missense probably damaging 0.99
R2105:Kansl1 UTSW 11 104,226,385 (GRCm39) missense probably damaging 0.98
R2907:Kansl1 UTSW 11 104,315,286 (GRCm39) missense possibly damaging 0.82
R3935:Kansl1 UTSW 11 104,234,369 (GRCm39) missense possibly damaging 0.83
R3936:Kansl1 UTSW 11 104,234,369 (GRCm39) missense possibly damaging 0.83
R4282:Kansl1 UTSW 11 104,269,515 (GRCm39) missense probably benign 0.19
R4455:Kansl1 UTSW 11 104,315,184 (GRCm39) missense possibly damaging 0.47
R4696:Kansl1 UTSW 11 104,247,593 (GRCm39) missense possibly damaging 0.90
R4846:Kansl1 UTSW 11 104,233,798 (GRCm39) missense possibly damaging 0.48
R4890:Kansl1 UTSW 11 104,233,868 (GRCm39) missense probably benign
R4973:Kansl1 UTSW 11 104,315,147 (GRCm39) missense probably damaging 1.00
R4975:Kansl1 UTSW 11 104,226,390 (GRCm39) missense probably damaging 1.00
R5085:Kansl1 UTSW 11 104,315,168 (GRCm39) missense probably damaging 1.00
R5227:Kansl1 UTSW 11 104,247,640 (GRCm39) missense probably benign 0.19
R5310:Kansl1 UTSW 11 104,315,684 (GRCm39) missense possibly damaging 0.95
R5652:Kansl1 UTSW 11 104,228,992 (GRCm39) missense probably damaging 1.00
R5677:Kansl1 UTSW 11 104,225,974 (GRCm39) missense probably benign 0.00
R5980:Kansl1 UTSW 11 104,234,463 (GRCm39) missense possibly damaging 0.96
R6013:Kansl1 UTSW 11 104,241,465 (GRCm39) missense probably benign 0.00
R6253:Kansl1 UTSW 11 104,248,352 (GRCm39) missense probably benign 0.10
R7751:Kansl1 UTSW 11 104,314,890 (GRCm39) missense probably benign 0.30
R7880:Kansl1 UTSW 11 104,314,979 (GRCm39) missense probably damaging 1.00
R7888:Kansl1 UTSW 11 104,233,248 (GRCm39) missense probably benign 0.00
R7935:Kansl1 UTSW 11 104,315,112 (GRCm39) missense probably damaging 0.99
R8251:Kansl1 UTSW 11 104,315,186 (GRCm39) missense probably benign
R9033:Kansl1 UTSW 11 104,248,356 (GRCm39) missense probably benign 0.00
R9494:Kansl1 UTSW 11 104,247,566 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGAAGACCAACTTTTGAGGCC -3'
(R):5'- CTTGGAAGAACATGCACACC -3'

Sequencing Primer
(F):5'- CCAACTTTTGAGGCCTTATAAATCAC -3'
(R):5'- AACACTCACTGCCTTAAGACATAGGG -3'
Posted On 2022-02-07