Incidental Mutation 'R1855:Supt6'
ID 206041
Institutional Source Beutler Lab
Gene Symbol Supt6
Ensembl Gene ENSMUSG00000002052
Gene Name SPT6, histone chaperone and transcription elongation factor
Synonyms SPT6, 5131400N11Rik, Supt6h
MMRRC Submission 039879-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1855 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 78097575-78136798 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78123366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 104 (I104V)
Ref Sequence ENSEMBL: ENSMUSP00000002121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002121]
AlphaFold Q62383
Predicted Effect possibly damaging
Transcript: ENSMUST00000002121
AA Change: I104V

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: I104V

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Pfam:SPT6_acidic 37 127 8.8e-19 PFAM
low complexity region 146 164 N/A INTRINSIC
low complexity region 170 189 N/A INTRINSIC
low complexity region 192 203 N/A INTRINSIC
low complexity region 220 250 N/A INTRINSIC
low complexity region 252 267 N/A INTRINSIC
Pfam:HTH_44 305 432 1.3e-28 PFAM
low complexity region 494 509 N/A INTRINSIC
YqgFc 779 894 4.27e-21 SMART
Pfam:HHH_7 935 1038 3.1e-55 PFAM
Pfam:HHH_3 966 1036 5.2e-10 PFAM
Pfam:DLD 1051 1159 6.8e-39 PFAM
S1 1221 1282 2.8e-3 SMART
SH2 1332 1421 4.12e-11 SMART
low complexity region 1441 1454 N/A INTRINSIC
Blast:SH2 1455 1517 9e-19 BLAST
low complexity region 1586 1599 N/A INTRINSIC
low complexity region 1639 1664 N/A INTRINSIC
Meta Mutation Damage Score 0.1369 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 97% (72/74)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality during pre-implantation development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,818,195 (GRCm39) L285Q probably damaging Het
Acaca T C 11: 84,262,380 (GRCm39) L1994P probably damaging Het
Adamts9 A G 6: 92,878,350 (GRCm39) probably benign Het
Aff3 T C 1: 38,249,385 (GRCm39) E574G probably benign Het
Ankrd1 T C 19: 36,096,635 (GRCm39) K64R probably damaging Het
Arhgap23 T C 11: 97,339,523 (GRCm39) I163T probably damaging Het
Ascc3 A T 10: 50,494,018 (GRCm39) Q151L probably benign Het
Atad2 G A 15: 57,960,685 (GRCm39) P971L possibly damaging Het
C1s1 A C 6: 124,511,315 (GRCm39) probably null Het
Ccdc150 T C 1: 54,407,069 (GRCm39) probably benign Het
Cdhr3 A T 12: 33,110,351 (GRCm39) I311N probably damaging Het
Chad T A 11: 94,456,303 (GRCm39) L127H probably damaging Het
Clasp1 G A 1: 118,436,624 (GRCm39) A303T probably damaging Het
Clptm1 A G 7: 19,372,134 (GRCm39) V234A probably benign Het
Cnih3 C A 1: 181,282,186 (GRCm39) S140* probably null Het
Col24a1 G A 3: 145,164,895 (GRCm39) G1033D probably damaging Het
Csnk1a1 T A 18: 61,708,498 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,378,412 (GRCm39) I1475L probably benign Het
Dnah5 T C 15: 28,411,815 (GRCm39) V3728A possibly damaging Het
Dock9 C A 14: 121,877,571 (GRCm39) V391F probably damaging Het
Ehmt2 A T 17: 35,129,752 (GRCm39) I949F probably damaging Het
Eif4g1 C A 16: 20,505,911 (GRCm39) T1025K possibly damaging Het
Enpp2 C T 15: 54,709,219 (GRCm39) E803K probably damaging Het
Esrrg A T 1: 187,943,295 (GRCm39) M423L probably damaging Het
Etnppl A T 3: 130,414,371 (GRCm39) I89F probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbln7 A G 2: 128,735,755 (GRCm39) T248A possibly damaging Het
Galnt9 C T 5: 110,763,390 (GRCm39) T465M probably damaging Het
Grcc10 A G 6: 124,717,541 (GRCm39) V57A probably benign Het
Herc1 T A 9: 66,298,708 (GRCm39) M614K possibly damaging Het
Itch C T 2: 155,014,374 (GRCm39) probably benign Het
Kdm6b C A 11: 69,298,112 (GRCm39) A167S probably damaging Het
Kidins220 C T 12: 25,106,590 (GRCm39) R1348C probably damaging Het
Kif17 T C 4: 138,015,582 (GRCm39) L577P probably benign Het
Krt25 A T 11: 99,209,141 (GRCm39) L258Q probably damaging Het
Marchf10 T C 11: 105,281,218 (GRCm39) T356A probably benign Het
Mical2 G A 7: 111,944,489 (GRCm39) A940T probably benign Het
Mrpl4 A G 9: 20,914,667 (GRCm39) E81G possibly damaging Het
Mtcl1 A G 17: 66,686,509 (GRCm39) V447A probably benign Het
Mtor C A 4: 148,637,546 (GRCm39) N2502K probably benign Het
Notch4 G A 17: 34,799,936 (GRCm39) D966N probably benign Het
Oip5 C A 2: 119,442,271 (GRCm39) K214N probably benign Het
Or8a1b A T 9: 37,623,266 (GRCm39) F103Y possibly damaging Het
Pabir2 T A X: 52,342,933 (GRCm39) Q201H probably benign Het
Pak5 A T 2: 135,929,429 (GRCm39) S585T probably benign Het
Pard3 T A 8: 128,174,293 (GRCm39) probably null Het
Pcnx2 A T 8: 126,534,735 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,492,556 (GRCm39) Y939C possibly damaging Het
Pde1a A G 2: 79,728,408 (GRCm39) probably null Het
Pde9a C T 17: 31,674,094 (GRCm39) P60S probably damaging Het
Pikfyve C A 1: 65,297,957 (GRCm39) T1562K probably benign Het
Plekhg6 A T 6: 125,352,802 (GRCm39) M115K probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Ppp1r3a A T 6: 14,754,993 (GRCm39) W85R probably damaging Het
Rnf123 C A 9: 107,938,990 (GRCm39) R826L probably damaging Het
Slc1a6 T A 10: 78,648,758 (GRCm39) V493E probably damaging Het
Slc22a2 A G 17: 12,805,699 (GRCm39) D150G probably damaging Het
Snap47 C T 11: 59,319,159 (GRCm39) probably benign Het
Spata22 A G 11: 73,231,385 (GRCm39) D213G probably benign Het
St6galnac2 T A 11: 116,581,141 (GRCm39) R60S probably benign Het
Stk32c A G 7: 138,701,363 (GRCm39) F263S probably damaging Het
Tex2 T C 11: 106,437,702 (GRCm39) E158G possibly damaging Het
Tiam2 C T 17: 3,465,410 (GRCm39) R380C probably damaging Het
Trim25 C T 11: 88,906,407 (GRCm39) T410I probably benign Het
Usp18 T A 6: 121,239,076 (GRCm39) C212S probably benign Het
Vmn1r2 A G 4: 3,172,588 (GRCm39) Y169C probably damaging Het
Wdr33 A T 18: 32,039,909 (GRCm39) probably benign Het
Xpr1 A G 1: 155,159,002 (GRCm39) Y597H probably benign Het
Yy1 CGGG CGGGGGGGGG 12: 108,759,916 (GRCm39) probably benign Het
Zfp54 T A 17: 21,654,404 (GRCm39) Y299* probably null Het
Zfp566 T G 7: 29,777,927 (GRCm39) S85R probably benign Het
Other mutations in Supt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Supt6 APN 11 78,122,007 (GRCm39) missense possibly damaging 0.94
IGL01457:Supt6 APN 11 78,111,969 (GRCm39) missense probably damaging 1.00
IGL01608:Supt6 APN 11 78,116,309 (GRCm39) missense probably damaging 1.00
IGL01739:Supt6 APN 11 78,113,013 (GRCm39) missense probably damaging 1.00
IGL01765:Supt6 APN 11 78,112,985 (GRCm39) missense probably benign 0.09
IGL01894:Supt6 APN 11 78,113,664 (GRCm39) missense probably benign 0.00
IGL01952:Supt6 APN 11 78,116,586 (GRCm39) missense probably benign 0.01
IGL02067:Supt6 APN 11 78,121,983 (GRCm39) missense probably benign 0.01
IGL02244:Supt6 APN 11 78,123,623 (GRCm39) missense possibly damaging 0.92
IGL02267:Supt6 APN 11 78,117,030 (GRCm39) missense possibly damaging 0.72
IGL02379:Supt6 APN 11 78,116,195 (GRCm39) missense possibly damaging 0.75
IGL02541:Supt6 APN 11 78,117,744 (GRCm39) missense probably damaging 0.99
IGL02635:Supt6 APN 11 78,103,565 (GRCm39) missense probably damaging 1.00
IGL03347:Supt6 APN 11 78,123,011 (GRCm39) missense possibly damaging 0.71
IGL02980:Supt6 UTSW 11 78,116,548 (GRCm39) missense probably damaging 1.00
IGL02991:Supt6 UTSW 11 78,116,179 (GRCm39) missense probably damaging 1.00
R0145:Supt6 UTSW 11 78,099,062 (GRCm39) missense probably benign 0.22
R0371:Supt6 UTSW 11 78,113,983 (GRCm39) missense probably benign 0.00
R0452:Supt6 UTSW 11 78,117,829 (GRCm39) missense probably damaging 1.00
R0464:Supt6 UTSW 11 78,107,164 (GRCm39) missense probably benign 0.33
R0616:Supt6 UTSW 11 78,100,321 (GRCm39) missense probably damaging 1.00
R0653:Supt6 UTSW 11 78,116,841 (GRCm39) missense probably benign 0.01
R0788:Supt6 UTSW 11 78,098,598 (GRCm39) unclassified probably benign
R1103:Supt6 UTSW 11 78,116,299 (GRCm39) missense possibly damaging 0.59
R1282:Supt6 UTSW 11 78,119,594 (GRCm39) missense possibly damaging 0.83
R1460:Supt6 UTSW 11 78,113,024 (GRCm39) missense possibly damaging 0.93
R1508:Supt6 UTSW 11 78,107,029 (GRCm39) critical splice donor site probably null
R1850:Supt6 UTSW 11 78,110,703 (GRCm39) splice site probably benign
R1854:Supt6 UTSW 11 78,123,366 (GRCm39) missense possibly damaging 0.51
R2054:Supt6 UTSW 11 78,115,187 (GRCm39) splice site probably benign
R2098:Supt6 UTSW 11 78,104,087 (GRCm39) splice site probably null
R2146:Supt6 UTSW 11 78,121,758 (GRCm39) missense probably damaging 1.00
R2167:Supt6 UTSW 11 78,098,993 (GRCm39) missense possibly damaging 0.94
R4621:Supt6 UTSW 11 78,103,572 (GRCm39) missense possibly damaging 0.65
R4734:Supt6 UTSW 11 78,115,509 (GRCm39) missense probably benign 0.01
R4825:Supt6 UTSW 11 78,098,960 (GRCm39) missense possibly damaging 0.84
R5575:Supt6 UTSW 11 78,119,787 (GRCm39) missense probably damaging 1.00
R5789:Supt6 UTSW 11 78,124,412 (GRCm39) missense unknown
R5889:Supt6 UTSW 11 78,103,574 (GRCm39) missense probably damaging 0.98
R6296:Supt6 UTSW 11 78,116,885 (GRCm39) missense possibly damaging 0.48
R6297:Supt6 UTSW 11 78,116,885 (GRCm39) missense possibly damaging 0.48
R6394:Supt6 UTSW 11 78,121,891 (GRCm39) missense probably damaging 1.00
R6702:Supt6 UTSW 11 78,122,626 (GRCm39) missense possibly damaging 0.93
R6737:Supt6 UTSW 11 78,122,644 (GRCm39) missense probably damaging 0.99
R6751:Supt6 UTSW 11 78,099,775 (GRCm39) missense probably benign 0.09
R6853:Supt6 UTSW 11 78,123,656 (GRCm39) missense possibly damaging 0.85
R7213:Supt6 UTSW 11 78,122,976 (GRCm39) missense probably damaging 1.00
R7259:Supt6 UTSW 11 78,098,442 (GRCm39) missense probably damaging 0.99
R7609:Supt6 UTSW 11 78,117,777 (GRCm39) missense probably benign 0.01
R7776:Supt6 UTSW 11 78,100,355 (GRCm39) missense probably damaging 0.99
R8683:Supt6 UTSW 11 78,108,727 (GRCm39) missense probably benign 0.13
R8895:Supt6 UTSW 11 78,103,664 (GRCm39) missense probably damaging 0.98
R9097:Supt6 UTSW 11 78,113,100 (GRCm39) missense probably benign 0.00
R9175:Supt6 UTSW 11 78,112,052 (GRCm39) missense possibly damaging 0.70
R9228:Supt6 UTSW 11 78,116,612 (GRCm39) missense probably benign 0.03
R9311:Supt6 UTSW 11 78,116,284 (GRCm39) missense probably damaging 1.00
R9476:Supt6 UTSW 11 78,120,290 (GRCm39) missense probably damaging 1.00
R9510:Supt6 UTSW 11 78,120,290 (GRCm39) missense probably damaging 1.00
R9748:Supt6 UTSW 11 78,108,767 (GRCm39) missense probably damaging 0.96
X0067:Supt6 UTSW 11 78,123,501 (GRCm39) missense probably benign
Z1176:Supt6 UTSW 11 78,102,662 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTAAGGATGTCTGCTGTCCAG -3'
(R):5'- AAGACGATGTTGGCCACAAG -3'

Sequencing Primer
(F):5'- GAGTCACGTTTATCCAGCCTCAAG -3'
(R):5'- AGAGCCTTGTCTCATCGT -3'
Posted On 2014-06-23