Incidental Mutation 'R7609:Supt6'
ID 588506
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 045714-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7609 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 78097575-78136798 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78117777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 480 (N480D)
Ref Sequence ENSEMBL: ENSMUSP00000002121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002121]
AlphaFold Q62383
Predicted Effect probably benign
Transcript: ENSMUST00000002121
AA Change: N480D

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: N480D

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 0.0588 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (69/72)
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
4930563M21Rik T C 9: 55,896,744 (GRCm39) Y288C probably benign Het
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Agl C A 3: 116,600,928 (GRCm39) R24I possibly damaging Het
Aldoart2 A G 12: 55,612,833 (GRCm39) T253A probably benign Het
Ankrd39 G A 1: 36,578,546 (GRCm39) R160W probably damaging Het
Aspscr1 C T 11: 120,568,348 (GRCm39) T57M probably damaging Het
Baz2b A G 2: 59,792,817 (GRCm39) L437S probably benign Het
Bcl9l T A 9: 44,417,044 (GRCm39) L331Q probably damaging Het
Cdhr4 C A 9: 107,874,482 (GRCm39) P546T probably damaging Het
Cfap61 T C 2: 145,954,453 (GRCm39) C231R unknown Het
Cnih4 T C 1: 180,983,467 (GRCm39) L61P probably damaging Het
Dtx4 A G 19: 12,469,645 (GRCm39) Y161H probably damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Ercc6 A G 14: 32,288,318 (GRCm39) H830R probably benign Het
Exoc7 T C 11: 116,180,085 (GRCm39) N673S possibly damaging Het
Gm12185 T C 11: 48,806,850 (GRCm39) S114G possibly damaging Het
Hsfy2 A T 1: 56,676,310 (GRCm39) F76I probably benign Het
Igsf9b A G 9: 27,257,186 (GRCm39) D1413G probably benign Het
Klk1b8 G A 7: 43,451,603 (GRCm39) C198Y probably damaging Het
Lama3 G T 18: 12,664,891 (GRCm39) probably null Het
Lce3f A T 3: 92,900,403 (GRCm39) S75C unknown Het
Ldhal6b T C 17: 5,468,266 (GRCm39) M223V probably benign Het
Magoh T C 4: 107,744,409 (GRCm39) V126A possibly damaging Het
Mc1r A T 8: 124,135,032 (GRCm39) I262F probably damaging Het
Mecom A G 3: 30,010,591 (GRCm39) I629T probably damaging Het
Mkrn2os A G 6: 115,563,687 (GRCm39) V116A possibly damaging Het
Mtcl3 A T 10: 29,024,224 (GRCm39) D380V probably damaging Het
Muc5b T A 7: 141,415,466 (GRCm39) V2804D possibly damaging Het
Myo15a T C 11: 60,379,637 (GRCm39) V279A Het
Nhlrc2 A G 19: 56,583,328 (GRCm39) I600V probably benign Het
Nipbl T C 15: 8,335,356 (GRCm39) Q2183R probably benign Het
Obscn C T 11: 58,891,125 (GRCm39) E7136K unknown Het
Or10ag56 T C 2: 87,139,853 (GRCm39) V260A probably benign Het
Or5p4 T A 7: 107,680,753 (GRCm39) F251I probably damaging Het
Or8c9 A C 9: 38,241,520 (GRCm39) L209F possibly damaging Het
Or8g37 C T 9: 39,731,583 (GRCm39) T216I probably benign Het
Otop3 T C 11: 115,230,546 (GRCm39) I141T possibly damaging Het
Pde4dip C A 3: 97,622,881 (GRCm39) V1443F possibly damaging Het
Pdgfra T C 5: 75,327,382 (GRCm39) V193A probably benign Het
Phf3 T C 1: 30,844,582 (GRCm39) Y1459C probably benign Het
Pias4 A T 10: 80,993,860 (GRCm39) probably null Het
Plcg2 A G 8: 118,284,852 (GRCm39) N159S probably benign Het
Plekha7 T C 7: 115,763,681 (GRCm39) D307G probably benign Het
Ptprd T C 4: 75,990,240 (GRCm39) K491E probably benign Het
Rbpjl A T 2: 164,247,734 (GRCm39) R62S probably benign Het
Rgs11 T C 17: 26,426,415 (GRCm39) S245P probably damaging Het
Ripor3 G A 2: 167,826,490 (GRCm39) A685V possibly damaging Het
Rnase9 G A 14: 51,276,940 (GRCm39) P13S possibly damaging Het
Saxo5 A T 8: 3,526,057 (GRCm39) H70L probably benign Het
Scin C T 12: 40,174,588 (GRCm39) C165Y probably damaging Het
Senp7 T C 16: 55,932,000 (GRCm39) W100R probably benign Het
Slc26a2 T C 18: 61,331,532 (GRCm39) D633G probably benign Het
Slc4a4 C T 5: 89,283,545 (GRCm39) P446S probably damaging Het
Spag17 T A 3: 100,002,911 (GRCm39) C1878* probably null Het
Ssc5d A G 7: 4,930,575 (GRCm39) E129G possibly damaging Het
Tbk1 A G 10: 121,388,406 (GRCm39) L590S probably damaging Het
Tmem63a T A 1: 180,780,539 (GRCm39) probably null Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Trio A G 15: 27,912,728 (GRCm39) S109P unknown Het
Tsga10 A T 1: 37,843,974 (GRCm39) probably null Het
Ttn A T 2: 76,626,107 (GRCm39) L14984* probably null Het
Tyr T C 7: 87,133,092 (GRCm39) T325A probably benign Het
U2surp A T 9: 95,367,732 (GRCm39) probably null Het
Uba6 C A 5: 86,294,934 (GRCm39) K368N probably benign Het
Upb1 A G 10: 75,272,035 (GRCm39) T283A probably benign Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Vmn1r31 A G 6: 58,449,455 (GRCm39) Y137H probably damaging Het
Wdtc1 T C 4: 133,023,748 (GRCm39) K541R probably damaging Het
Wrn A G 8: 33,800,741 (GRCm39) I624T possibly damaging Het
Zfp804b T A 5: 6,820,066 (GRCm39) D999V possibly damaging Het
Zmym4 T A 4: 126,819,588 (GRCm39) H105L 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
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
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'- ACCTGGGAACAAAATTTGAGACC -3'
(R):5'- CTTAGCTGTGCTTGAGCTGAAG -3'

Sequencing Primer
(F):5'- ATTTGAGACCAGTCAGCTCTTG -3'
(R):5'- GCTGAAGCTAGGAACTATTGTATGAC -3'
Posted On 2019-10-24