Incidental Mutation 'R4975:Kansl1'
ID 382590
Institutional Source Beutler Lab
Gene Symbol Kansl1
Ensembl Gene ENSMUSG00000018412
Gene Name KAT8 regulatory NSL complex subunit 1
Synonyms 1700081L11Rik
MMRRC Submission 042570-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4975 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 104224055-104359687 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104226390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 922 (S922R)
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: S922R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018556
Gene: ENSMUSG00000018412
AA Change: S922R

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 noncoding transcript
Transcript: ENSMUST00000069188
Predicted Effect probably damaging
Transcript: ENSMUST00000106971
AA Change: S985R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102584
Gene: ENSMUSG00000018412
AA Change: S985R

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: S985R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102585
Gene: ENSMUSG00000018412
AA Change: S985R

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: S922R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102590
Gene: ENSMUSG00000018412
AA Change: S922R

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 92.8%
Validation Efficiency 100% (81/81)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A C 3: 59,840,161 (GRCm39) T78P probably damaging Het
Abcc8 T C 7: 45,800,291 (GRCm39) K497R probably damaging Het
Aldh1a3 C T 7: 66,068,927 (GRCm39) R19Q possibly damaging Het
Bmp2k A G 5: 97,234,944 (GRCm39) probably benign Het
Ccni A T 5: 93,335,553 (GRCm39) L195Q possibly damaging Het
Cdkl4 C A 17: 80,832,764 (GRCm39) G327* probably null Het
Cdsn T C 17: 35,866,326 (GRCm39) V285A possibly damaging Het
Cfap20dc A G 14: 8,518,736 (GRCm38) V240A probably benign Het
Chtf18 T C 17: 25,943,540 (GRCm39) E352G possibly damaging Het
Clasp2 T A 9: 113,732,984 (GRCm39) I961N probably damaging Het
Cpsf2 A G 12: 101,949,752 (GRCm39) Q128R probably damaging Het
Cttnbp2 C A 6: 18,406,525 (GRCm39) Q1055H possibly damaging Het
Cyld T G 8: 89,433,860 (GRCm39) F216L probably benign Het
Cyp3a41a A G 5: 145,656,858 (GRCm39) M1T probably null Het
Disp3 C T 4: 148,328,673 (GRCm39) R1097H possibly damaging Het
Dmap1 T C 4: 117,538,233 (GRCm39) D67G possibly damaging Het
Dnah8 T C 17: 30,875,959 (GRCm39) F529L probably benign Het
Ergic3 T C 2: 155,859,638 (GRCm39) probably null Het
Fkbp14 A G 6: 54,569,943 (GRCm39) I29T probably benign Het
Gm4845 T A 1: 141,184,623 (GRCm39) noncoding transcript Het
Gm7135 A T 1: 97,281,801 (GRCm39) noncoding transcript Het
Gpbar1 TACCAC TAC 1: 74,318,704 (GRCm39) probably benign Het
Gtf2ird1 T A 5: 134,424,481 (GRCm39) I57F probably damaging Het
Hectd1 A G 12: 51,809,280 (GRCm39) V1722A probably benign Het
Hmcn2 A G 2: 31,283,037 (GRCm39) D1971G possibly damaging Het
Il21 C A 3: 37,286,653 (GRCm39) S21I probably damaging Het
Itih4 T A 14: 30,614,244 (GRCm39) I398N probably damaging Het
Krt27 G A 11: 99,237,722 (GRCm39) Q339* probably null Het
Lama1 C A 17: 68,045,829 (GRCm39) L245I possibly damaging Het
Lmo2 T A 2: 103,806,488 (GRCm39) C60* probably null Het
Med16 A G 10: 79,738,839 (GRCm39) S316P possibly damaging Het
Mia3 T C 1: 183,111,970 (GRCm39) N529S probably benign Het
Msi2 T C 11: 88,285,481 (GRCm39) K188E probably damaging Het
Myh7 T C 14: 55,209,128 (GRCm39) K1870R probably damaging Het
Nhlrc1 A G 13: 47,167,216 (GRCm39) V347A probably benign Het
Nol6 C T 4: 41,120,167 (GRCm39) R487H probably benign Het
Or4c117 T C 2: 88,955,682 (GRCm39) Y131C probably damaging Het
Or4k41 T C 2: 111,280,028 (GRCm39) I181T probably benign Het
Or52h1 A T 7: 103,828,736 (GRCm39) V293D probably damaging Het
Or5d18 T C 2: 87,865,005 (GRCm39) I159M probably benign Het
Or6c205 T C 10: 129,087,141 (GRCm39) I246T probably damaging Het
Otog T C 7: 45,937,415 (GRCm39) V1708A probably benign Het
Ptprv A G 1: 135,046,586 (GRCm39) noncoding transcript Het
Pus7l A G 15: 94,427,369 (GRCm39) V471A possibly damaging Het
Rab11fip4 A G 11: 79,510,497 (GRCm39) R68G probably damaging Het
Ralgapb A G 2: 158,277,428 (GRCm39) D264G possibly damaging Het
Reln A G 5: 22,165,424 (GRCm39) S2045P probably damaging Het
Rgs22 A C 15: 36,055,022 (GRCm39) Y593* probably null Het
Ror2 C T 13: 53,285,954 (GRCm39) D87N probably damaging Het
Rps6ka4 A T 19: 6,817,678 (GRCm39) probably null Het
Rttn T A 18: 89,082,209 (GRCm39) probably null Het
Runx3 A G 4: 134,898,446 (GRCm39) T206A probably benign Het
Setx A G 2: 29,054,562 (GRCm39) E2158G probably damaging Het
Siglece C T 7: 43,308,396 (GRCm39) probably null Het
Slco1a8 T C 6: 141,926,599 (GRCm39) S576G probably benign Het
Snx1 A T 9: 66,012,187 (GRCm39) L96* probably null Het
Srrm1 A G 4: 135,074,031 (GRCm39) probably benign Het
Stk39 A T 2: 68,051,336 (GRCm39) probably benign Het
Sun3 G A 11: 8,988,311 (GRCm39) R4* probably null Het
Svil A G 18: 5,054,025 (GRCm39) K347E possibly damaging Het
Sybu T A 15: 44,541,063 (GRCm39) E333V probably damaging Het
Tet2 A G 3: 133,192,520 (GRCm39) probably benign Het
Tfip11 G T 5: 112,483,613 (GRCm39) probably benign Het
Tmc1 A C 19: 20,884,319 (GRCm39) D40E probably damaging Het
Twf2 G T 9: 106,089,539 (GRCm39) G121W probably damaging Het
Vpreb3 A G 10: 75,775,636 (GRCm39) V50A probably damaging Het
Vps8 T A 16: 21,285,219 (GRCm39) L400Q probably damaging Het
Xylt1 A T 7: 117,266,565 (GRCm39) Y861F probably damaging Het
Zfp608 T G 18: 55,022,962 (GRCm39) T1485P probably damaging Het
Zfp619 T G 7: 39,186,504 (GRCm39) S845A possibly damaging Het
Zscan4d A T 7: 10,899,274 (GRCm39) M1K probably null 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
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'- AGCTTTATCTTCGGCACATGC -3'
(R):5'- AACTGCTTTGGTGTAGATGCC -3'

Sequencing Primer
(F):5'- CCCCCTCCCTGTTCTACC -3'
(R):5'- TTAAAATAACTCCTCTTACTACCCCC -3'
Posted On 2016-04-27