Incidental Mutation 'R0653:Supt6'
ID 62395
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 038838-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0653 (G1)
Quality Score 88
Status Not validated
Chromosome 11
Chromosomal Location 78097575-78136798 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 78116841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 604 (Q604K)
Ref Sequence ENSEMBL: ENSMUSP00000002121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002121]
AlphaFold Q62383
Predicted Effect probably benign
Transcript: ENSMUST00000002121
AA Change: Q604K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: Q604K

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.4%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,066,371 (GRCm39) R612* probably null Het
Adgra1 A G 7: 139,456,063 (GRCm39) T564A probably damaging Het
Akr1c18 A T 13: 4,195,307 (GRCm39) D50E probably damaging Het
Atg9a C A 1: 75,166,972 (GRCm39) L26F probably damaging Het
Atp11b A G 3: 35,893,343 (GRCm39) T899A probably damaging Het
Atxn2 A G 5: 121,910,841 (GRCm39) E358G probably damaging Het
Bmp3 A G 5: 99,019,970 (GRCm39) Y131C probably damaging Het
Brip1 T C 11: 86,043,484 (GRCm39) E360G possibly damaging Het
Casd1 A T 6: 4,608,075 (GRCm39) I76L probably benign Het
Casq2 G A 3: 102,020,482 (GRCm39) probably null Het
Ccdc185 T A 1: 182,575,129 (GRCm39) Q520L possibly damaging Het
Cenpf T C 1: 189,392,183 (GRCm39) K550E probably damaging Het
Ciz1 T C 2: 32,262,418 (GRCm39) S521P probably damaging Het
Clstn2 A T 9: 97,340,257 (GRCm39) V705E probably damaging Het
Dagla A G 19: 10,225,789 (GRCm39) Y792H probably damaging Het
Dgke A T 11: 88,950,995 (GRCm39) C73S probably benign Het
Egflam A G 15: 7,279,509 (GRCm39) probably null Het
Farp1 T C 14: 121,471,258 (GRCm39) probably null Het
Fos A G 12: 85,522,790 (GRCm39) E234G probably benign Het
Gtf3c5 A T 2: 28,468,008 (GRCm39) M151K probably benign Het
Hgs G A 11: 120,359,904 (GRCm39) R36H probably damaging Het
Lats2 G A 14: 57,937,653 (GRCm39) Q279* probably null Het
Lysmd4 T A 7: 66,875,788 (GRCm39) D150E probably benign Het
Mex3b A G 7: 82,518,242 (GRCm39) K186E probably damaging Het
Myo9a A C 9: 59,832,274 (GRCm39) Q2601P probably damaging Het
Nckap5l C A 15: 99,321,127 (GRCm39) V1218F probably damaging Het
Nr5a2 A G 1: 136,876,543 (GRCm39) V40A probably benign Het
Obscn C A 11: 58,898,534 (GRCm39) probably benign Het
Or2y1d C A 11: 49,322,078 (GRCm39) Y258* probably null Het
Or4c114 A G 2: 88,904,808 (GRCm39) I209T possibly damaging Het
Or8g4 A G 9: 39,661,934 (GRCm39) N84S probably benign Het
Pclo T A 5: 14,732,269 (GRCm39) probably benign Het
Reln T C 5: 22,118,228 (GRCm39) I2939V probably benign Het
Rtn4 A T 11: 29,657,256 (GRCm39) K470I probably damaging Het
Sbno1 A G 5: 124,524,955 (GRCm39) I1050T possibly damaging Het
Scaf11 G T 15: 96,316,522 (GRCm39) S17* probably null Het
Scn9a A T 2: 66,363,721 (GRCm39) N841K probably damaging Het
Slc35e3 C A 10: 117,576,711 (GRCm39) E207* probably null Het
Slc6a20b A G 9: 123,426,377 (GRCm39) F503L probably damaging Het
Spag16 G T 1: 69,909,504 (GRCm39) K200N probably damaging Het
Taok1 A G 11: 77,469,550 (GRCm39) probably null Het
Tjp1 A T 7: 64,964,503 (GRCm39) H889Q probably damaging Het
Tmed6 A T 8: 107,792,283 (GRCm39) probably null Het
Tsen54 A T 11: 115,705,887 (GRCm39) E68V probably damaging Het
Ttn A G 2: 76,559,878 (GRCm39) S21181P probably damaging Het
Ube3d A T 9: 86,334,043 (GRCm39) M33K possibly damaging Het
Umodl1 C A 17: 31,203,002 (GRCm39) Q452K probably benign Het
Wif1 G T 10: 120,935,704 (GRCm39) A354S probably benign Het
Wnk2 A G 13: 49,210,492 (GRCm39) F1788L possibly damaging Het
Zfhx3 A T 8: 109,673,440 (GRCm39) I1497F possibly damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp30 G A 7: 29,492,178 (GRCm39) R225Q probably damaging Het
Zfp87 T C 13: 74,520,190 (GRCm39) E296G probably damaging Het
Zfp874b A G 13: 67,623,052 (GRCm39) F86S possibly damaging Het
Zfyve19 A G 2: 119,041,696 (GRCm39) S88G 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
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'- TGTCAATGGTGAGCAGCCCTTC -3'
(R):5'- GGCCAAAGATTACGTGTGCAGGTG -3'

Sequencing Primer
(F):5'- TAAGCGTAGTGGGCCTCATC -3'
(R):5'- ATCCTGCAGCTCCACTGTT -3'
Posted On 2013-07-30