Incidental Mutation 'R0371:Supt6'
ID 30488
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 038577-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0371 (G1)
Quality Score 219
Status Validated
Chromosome 11
Chromosomal Location 78097575-78136798 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78113983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 854 (N854S)
Ref Sequence ENSEMBL: ENSMUSP00000002121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002121]
AlphaFold Q62383
Predicted Effect probably benign
Transcript: ENSMUST00000002121
AA Change: N854S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: N854S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000108314
Meta Mutation Damage Score 0.0587 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.6%
Validation Efficiency 99% (67/68)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 G A 16: 4,105,911 (GRCm39) R1068C probably benign Het
Afmid C T 11: 117,725,966 (GRCm39) probably benign Het
Aqr A G 2: 113,988,085 (GRCm39) V159A possibly damaging Het
Atp6v0d2 G C 4: 19,880,033 (GRCm39) T288R possibly damaging Het
Btnl1 T C 17: 34,600,031 (GRCm39) V178A probably damaging Het
Ccdc110 T A 8: 46,395,843 (GRCm39) M578K possibly damaging Het
Ccdc38 G T 10: 93,398,674 (GRCm39) E51* probably null Het
Cep290 T A 10: 100,354,426 (GRCm39) probably benign Het
Cilp2 T C 8: 70,334,256 (GRCm39) E914G probably damaging Het
Col6a2 T C 10: 76,450,307 (GRCm39) N208S probably benign Het
Ctrb1 T A 8: 112,413,783 (GRCm39) I194F probably benign Het
Cyp4a12a C G 4: 115,183,880 (GRCm39) R229G probably damaging Het
Dach1 C T 14: 98,207,339 (GRCm39) V337M probably damaging Het
Dcbld2 A G 16: 58,271,186 (GRCm39) N321S probably benign Het
Enpep C T 3: 129,077,516 (GRCm39) probably null Het
Fat1 T C 8: 45,404,929 (GRCm39) L560P probably damaging Het
Fdxr T C 11: 115,166,915 (GRCm39) H58R possibly damaging Het
Filip1 G T 9: 79,767,373 (GRCm39) P147T probably damaging Het
Fras1 G A 5: 96,703,190 (GRCm39) E318K possibly damaging Het
Grk2 T C 19: 4,341,614 (GRCm39) probably null Het
Gvin-ps6 A T 7: 106,021,986 (GRCm39) C339S unknown Het
Havcr1 T C 11: 46,643,416 (GRCm39) I112T possibly damaging Het
Hjurp G A 1: 88,205,090 (GRCm39) probably benign Het
Ildr2 G A 1: 166,131,133 (GRCm39) V330I probably damaging Het
Ino80d T C 1: 63,097,115 (GRCm39) probably benign Het
Iqsec1 A G 6: 90,647,385 (GRCm39) probably benign Het
Irf2bpl C T 12: 86,928,417 (GRCm39) W752* probably null Het
Kdr T A 5: 76,102,494 (GRCm39) H1211L probably benign Het
Klri2 A G 6: 129,709,106 (GRCm39) *249R probably null Het
Ktn1 A T 14: 47,961,460 (GRCm39) K1054* probably null Het
Lactb2 A G 1: 13,720,984 (GRCm39) S83P possibly damaging Het
Lrrc3b A T 14: 15,358,560 (GRCm38) C15* probably null Het
Mrs2 T C 13: 25,177,078 (GRCm39) I430V probably benign Het
Myo3b C T 2: 70,083,304 (GRCm39) probably benign Het
Nbas C T 12: 13,381,096 (GRCm39) T696I probably damaging Het
Nsun6 T C 2: 15,034,898 (GRCm39) D240G probably damaging Het
Nup107 T C 10: 117,599,674 (GRCm39) E615G probably damaging Het
Or2a25 A T 6: 42,888,872 (GRCm39) R138S probably benign Het
Or3a1d T A 11: 74,237,760 (GRCm39) I217F probably damaging Het
Or4k77 A T 2: 111,199,498 (GRCm39) I174L probably benign Het
Or5ac23 A G 16: 59,149,585 (GRCm39) C96R possibly damaging Het
Pabpc1l G A 2: 163,877,192 (GRCm39) V256M probably benign Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Sik1 T C 17: 32,067,958 (GRCm39) D409G probably benign Het
Slc22a22 A T 15: 57,113,131 (GRCm39) D369E possibly damaging Het
Smg1 T A 7: 117,767,523 (GRCm39) probably benign Het
Snap29 C A 16: 17,224,067 (GRCm39) D27E probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Sorcs3 A G 19: 48,592,333 (GRCm39) I333V probably benign Het
Spag7 A G 11: 70,555,622 (GRCm39) M105T probably damaging Het
Srgap3 A T 6: 112,748,432 (GRCm39) S407T probably damaging Het
Syne2 T C 12: 75,980,619 (GRCm39) S1460P probably damaging Het
Taok3 C T 5: 117,344,752 (GRCm39) Q160* probably null Het
Tchhl1 C A 3: 93,376,884 (GRCm39) A27E probably damaging Het
Tet1 T C 10: 62,714,178 (GRCm39) D539G probably damaging Het
Tut1 T C 19: 8,940,137 (GRCm39) F374L probably damaging Het
Unc5c C T 3: 141,533,283 (GRCm39) P770S probably benign Het
Vmn2r101 T A 17: 19,810,394 (GRCm39) N393K probably benign Het
Vmn2r94 T A 17: 18,477,556 (GRCm39) H285L probably benign Het
Wdr62 G A 7: 29,941,583 (GRCm39) S700L possibly damaging Het
Wscd1 A G 11: 71,679,549 (GRCm39) D474G probably damaging Het
Zcchc7 A G 4: 44,762,190 (GRCm39) N106S probably damaging Het
Zfp345 G T 2: 150,313,983 (GRCm39) T518N possibly damaging Het
Zfp648 A T 1: 154,080,413 (GRCm39) S191C possibly damaging Het
Zkscan8 C T 13: 21,710,844 (GRCm39) E89K probably damaging 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
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
R1855: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'- TCTCCAGAGAAACCCAAGGGTGTCA -3'
(R):5'- TCACACTGTCCCATGAGCTGAGAG -3'

Sequencing Primer
(F):5'- GGTGTCAACATCACCCCCTG -3'
(R):5'- gccaggctgacctcaaac -3'
Posted On 2013-04-24