Incidental Mutation 'R2907:Kansl1'
ID 261702
Institutional Source Beutler Lab
Gene Symbol Kansl1
Ensembl Gene ENSMUSG00000018412
Gene Name KAT8 regulatory NSL complex subunit 1
Synonyms 1700081L11Rik
MMRRC Submission 040494-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2907 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 104224055-104359687 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104315286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 251 (S251C)
Ref Sequence ENSEMBL: ENSMUSP00000102590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018556] [ENSMUST00000106971] [ENSMUST00000106972] [ENSMUST00000106977] [ENSMUST00000134266]
AlphaFold Q80TG1
Predicted Effect possibly damaging
Transcript: ENSMUST00000018556
AA Change: S251C

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000018556
Gene: ENSMUSG00000018412
AA Change: S251C

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 possibly damaging
Transcript: ENSMUST00000106971
AA Change: S251C

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102584
Gene: ENSMUSG00000018412
AA Change: S251C

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 possibly damaging
Transcript: ENSMUST00000106972
AA Change: S251C

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102585
Gene: ENSMUSG00000018412
AA Change: S251C

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 possibly damaging
Transcript: ENSMUST00000106977
AA Change: S251C

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102590
Gene: ENSMUSG00000018412
AA Change: S251C

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: ENSMUST00000134266
SMART Domains Protein: ENSMUSP00000116367
Gene: ENSMUSG00000018412

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195891
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 97% (37/38)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,565,559 (GRCm39) E385G probably damaging Het
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Arap3 G A 18: 38,123,580 (GRCm39) P452L possibly damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Asns A G 6: 7,675,506 (GRCm39) S499P probably benign Het
Aspn G T 13: 49,705,374 (GRCm39) V79F probably damaging Het
Astn2 A G 4: 65,563,093 (GRCm39) I844T possibly damaging Het
Asxl3 A T 18: 22,650,330 (GRCm39) H773L possibly damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Bcl6 G A 16: 23,786,869 (GRCm39) R641W probably damaging Het
Csmd3 T A 15: 47,874,449 (GRCm39) I612F probably damaging Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
H2-T3 G A 17: 36,498,347 (GRCm39) R233C possibly damaging Het
Igfbp4 A G 11: 98,932,377 (GRCm39) probably benign Het
Igkv16-104 T C 6: 68,402,911 (GRCm39) I68T probably damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Mcpt1 T C 14: 56,257,580 (GRCm39) V242A probably damaging Het
Nek10 C A 14: 14,980,613 (GRCm38) Q990K possibly damaging Het
Nlrp4d A T 7: 10,112,354 (GRCm39) V605E probably benign Het
Or10w1 C T 19: 13,632,611 (GRCm39) P268S possibly damaging Het
Or5an1b T C 19: 12,300,032 (GRCm39) D53G probably damaging Het
Or5d46 T C 2: 88,170,827 (GRCm39) I306T probably benign Het
Osbpl1a A G 18: 13,004,129 (GRCm39) probably benign Het
Otud4 T A 8: 80,399,697 (GRCm39) S803T probably benign Het
Pax9 C T 12: 56,756,529 (GRCm39) T289I probably benign Het
Pcdha5 A C 18: 37,093,868 (GRCm39) I126L possibly damaging Het
Psmd4 G T 3: 94,941,273 (GRCm39) A55E probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Sdr42e1 G A 8: 118,389,511 (GRCm39) L377F probably damaging Het
Setdb1 T C 3: 95,234,512 (GRCm39) probably benign Het
Uba3 T C 6: 97,180,514 (GRCm39) E21G probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Zfp113 T C 5: 138,143,219 (GRCm39) N344D probably benign Het
Zfp738 T C 13: 67,818,231 (GRCm39) I587V probably benign 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
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
R9192:Kansl1 UTSW 11 104,227,142 (GRCm39) missense probably damaging 1.00
R9494:Kansl1 UTSW 11 104,247,566 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAATGTCTCTCCACCTGCTTGG -3'
(R):5'- ACTTCGTCATCTCTACAAGGTGG -3'

Sequencing Primer
(F):5'- GGCTTGCACAACCTGTAATCG -3'
(R):5'- CATCTCTACAAGGTGGTGAGG -3'
Posted On 2015-01-23