Incidental Mutation 'R1226:Supt5'
ID 152230
Institutional Source Beutler Lab
Gene Symbol Supt5
Ensembl Gene ENSMUSG00000003435
Gene Name suppressor of Ty 5, DSIF elongation factor subunit
Synonyms Spt5, Supt5h
MMRRC Submission 039295-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1226 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 28014316-28038171 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28028172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 44 (I44V)
Ref Sequence ENSEMBL: ENSMUSP00000147059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003527] [ENSMUST00000207563] [ENSMUST00000208243] [ENSMUST00000209141]
AlphaFold O55201
Predicted Effect probably benign
Transcript: ENSMUST00000003527
AA Change: I192V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000003527
Gene: ENSMUSG00000003435
AA Change: I192V

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
coiled coil region 36 63 N/A INTRINSIC
Pfam:Spt5_N 73 170 8.1e-17 PFAM
NGN 174 265 2.2e-14 SMART
KOW 270 297 8.77e0 SMART
KOW 417 444 8.69e-4 SMART
KOW 469 496 9.1e-7 SMART
KOW 591 618 2.46e-3 SMART
low complexity region 677 695 N/A INTRINSIC
KOW 697 724 3.93e-2 SMART
CTD 766 902 2.09e-31 SMART
KOW 1028 1055 9.69e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207879
Predicted Effect probably benign
Transcript: ENSMUST00000208243
AA Change: I44V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208367
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208726
Predicted Effect probably benign
Transcript: ENSMUST00000209141
AA Change: I192V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Abcd2 G T 15: 91,075,246 (GRCm39) A189E probably benign Het
Ahcy T C 2: 154,906,817 (GRCm39) T159A probably benign Het
Arfgef2 T C 2: 166,669,560 (GRCm39) V84A probably damaging Het
Brwd1 G A 16: 95,832,748 (GRCm39) T1036M probably benign Het
Ccdc187 G T 2: 26,166,133 (GRCm39) S765R probably damaging Het
Cfap210 A G 2: 69,617,553 (GRCm39) M76T possibly damaging Het
Chd1l G A 3: 97,469,941 (GRCm39) R862* probably null Het
Crmp1 A G 5: 37,430,778 (GRCm39) D71G probably damaging Het
Ctif CTGTGTCCGGTGT CTGT 18: 75,654,650 (GRCm39) probably benign Het
Ctsb A C 14: 63,379,189 (GRCm39) Y267S probably damaging Het
Cyp4a12b T A 4: 115,290,164 (GRCm39) I239N possibly damaging Het
Dna2 T C 10: 62,796,203 (GRCm39) V544A possibly damaging Het
Dnhd1 T A 7: 105,346,106 (GRCm39) F2364Y probably damaging Het
Fsip2 A T 2: 82,811,355 (GRCm39) E2558V probably damaging Het
Gm10061 A C 16: 88,948,169 (GRCm39) Y48S unknown Het
Herc1 T A 9: 66,323,545 (GRCm39) M1353K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lin7a T C 10: 107,107,780 (GRCm39) V20A probably benign Het
Lsr T A 7: 30,671,308 (GRCm39) I142F probably damaging Het
Mei1 C T 15: 81,964,285 (GRCm39) T275I possibly damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Mrpl32 A G 13: 14,786,096 (GRCm39) I74T probably benign Het
Nek11 C T 9: 105,270,091 (GRCm39) V44I probably damaging Het
Noa1 A G 5: 77,455,402 (GRCm39) V438A possibly damaging Het
Or5an1c A C 19: 12,218,950 (GRCm39) I25R probably benign Het
Or7g16 C T 9: 18,727,266 (GRCm39) C108Y probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb17 T C 18: 37,620,313 (GRCm39) L701P probably damaging Het
Pde11a G A 2: 75,988,698 (GRCm39) S481L probably benign Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Ptprh T A 7: 4,606,091 (GRCm39) R3* probably null Het
Reln A G 5: 22,115,864 (GRCm39) L3048P probably damaging Het
Slc6a11 T A 6: 114,171,624 (GRCm39) I265N possibly damaging Het
Sorbs2 T C 8: 46,248,656 (GRCm39) S636P probably damaging Het
Tdrd6 T A 17: 43,937,523 (GRCm39) E1175V possibly damaging Het
Tnxb A C 17: 34,907,903 (GRCm39) T1316P probably damaging Het
Ufc1 A C 1: 171,116,810 (GRCm39) D119E probably benign Het
Vmn1r220 A G 13: 23,368,294 (GRCm39) F134S probably damaging Het
Zfp106 A G 2: 120,354,560 (GRCm39) S1404P probably damaging Het
Zfp866 A G 8: 70,218,940 (GRCm39) F227L probably damaging Het
Zfyve28 A T 5: 34,374,408 (GRCm39) H535Q probably benign Het
Other mutations in Supt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Supt5 APN 7 28,014,807 (GRCm39) missense probably benign 0.08
IGL01077:Supt5 APN 7 28,023,213 (GRCm39) nonsense probably null
IGL01477:Supt5 APN 7 28,016,689 (GRCm39) missense possibly damaging 0.94
IGL01813:Supt5 APN 7 28,023,400 (GRCm39) missense probably damaging 0.99
IGL02405:Supt5 APN 7 28,015,249 (GRCm39) missense probably benign 0.00
IGL02525:Supt5 APN 7 28,018,372 (GRCm39) splice site probably benign
IGL02584:Supt5 APN 7 28,025,592 (GRCm39) missense probably benign 0.08
IGL03387:Supt5 APN 7 28,019,508 (GRCm39) missense possibly damaging 0.89
R0420:Supt5 UTSW 7 28,016,754 (GRCm39) splice site probably benign
R0715:Supt5 UTSW 7 28,028,462 (GRCm39) missense probably damaging 1.00
R1655:Supt5 UTSW 7 28,029,449 (GRCm39) missense probably benign 0.00
R1801:Supt5 UTSW 7 28,016,639 (GRCm39) critical splice donor site probably null
R2424:Supt5 UTSW 7 28,014,590 (GRCm39) missense possibly damaging 0.47
R2883:Supt5 UTSW 7 28,028,745 (GRCm39) missense possibly damaging 0.75
R4280:Supt5 UTSW 7 28,016,498 (GRCm39) missense probably damaging 1.00
R4614:Supt5 UTSW 7 28,025,397 (GRCm39) missense possibly damaging 0.65
R4792:Supt5 UTSW 7 28,015,754 (GRCm39) missense probably benign 0.19
R4997:Supt5 UTSW 7 28,015,462 (GRCm39) missense probably benign 0.05
R5041:Supt5 UTSW 7 28,014,805 (GRCm39) missense probably damaging 1.00
R5062:Supt5 UTSW 7 28,028,440 (GRCm39) splice site probably null
R5119:Supt5 UTSW 7 28,015,795 (GRCm39) missense probably damaging 1.00
R5170:Supt5 UTSW 7 28,015,508 (GRCm39) missense probably benign 0.05
R5687:Supt5 UTSW 7 28,017,188 (GRCm39) missense probably benign 0.27
R5720:Supt5 UTSW 7 28,021,993 (GRCm39) missense probably damaging 0.97
R5935:Supt5 UTSW 7 28,028,900 (GRCm39) missense probably benign 0.09
R6032:Supt5 UTSW 7 28,015,600 (GRCm39) missense probably damaging 1.00
R6032:Supt5 UTSW 7 28,015,600 (GRCm39) missense probably damaging 1.00
R6049:Supt5 UTSW 7 28,014,622 (GRCm39) missense probably benign 0.32
R7043:Supt5 UTSW 7 28,019,435 (GRCm39) missense probably benign 0.00
R7085:Supt5 UTSW 7 28,030,914 (GRCm39) missense unknown
R7152:Supt5 UTSW 7 28,023,325 (GRCm39) missense probably benign 0.00
R7201:Supt5 UTSW 7 28,016,213 (GRCm39) missense probably benign 0.03
R7401:Supt5 UTSW 7 28,023,197 (GRCm39) missense probably damaging 0.99
R7959:Supt5 UTSW 7 28,015,224 (GRCm39) missense probably benign 0.43
R8181:Supt5 UTSW 7 28,030,899 (GRCm39) missense unknown
R8998:Supt5 UTSW 7 28,037,848 (GRCm39) missense unknown
R8999:Supt5 UTSW 7 28,037,848 (GRCm39) missense unknown
R9021:Supt5 UTSW 7 28,016,671 (GRCm39) missense probably damaging 0.98
R9314:Supt5 UTSW 7 28,019,799 (GRCm39) missense probably damaging 0.99
R9345:Supt5 UTSW 7 28,016,412 (GRCm39) missense probably benign 0.03
R9477:Supt5 UTSW 7 28,025,500 (GRCm39) missense probably damaging 0.99
R9568:Supt5 UTSW 7 28,014,688 (GRCm39) missense probably damaging 1.00
Z1177:Supt5 UTSW 7 28,016,456 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- GTCCAGTTCCCATCATCAGTCAGC -3'
(R):5'- TCCCATACGGGGTCAAGACACATAG -3'

Sequencing Primer
(F):5'- TCAGGCAGTGGTCTTCGC -3'
(R):5'- CAACCTGTGGACTGTCAAGTG -3'
Posted On 2014-01-29