Incidental Mutation 'IGL02601:Ssu72'
ID 300101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ssu72
Ensembl Gene ENSMUSG00000029038
Gene Name Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)
Synonyms 2610101M12Rik, 1500011L16Rik, 1190002E22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # IGL02601
Quality Score
Status
Chromosome 4
Chromosomal Location 155789272-155818336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155789882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 15 (N15S)
Ref Sequence ENSEMBL: ENSMUSP00000101220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030905] [ENSMUST00000105595]
AlphaFold Q9CY97
Predicted Effect possibly damaging
Transcript: ENSMUST00000030905
AA Change: N15S

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030905
Gene: ENSMUSG00000029038
AA Change: N15S

DomainStartEndE-ValueType
Pfam:Ssu72 6 194 1.3e-96 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105595
AA Change: N15S

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101220
Gene: ENSMUSG00000029038
AA Change: N15S

DomainStartEndE-ValueType
Pfam:Ssu72 4 176 2.8e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140322
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,293,541 (GRCm39) V57M probably damaging Het
Agap3 A G 5: 24,688,369 (GRCm39) K23E possibly damaging Het
Anln A T 9: 22,249,331 (GRCm39) I132K probably damaging Het
Anxa4 T C 6: 86,737,683 (GRCm39) T13A probably benign Het
Bdp1 A T 13: 100,235,022 (GRCm39) Y191N possibly damaging Het
Carm1 G A 9: 21,498,204 (GRCm39) V403M probably damaging Het
Cbx7 A G 15: 79,807,671 (GRCm39) probably null Het
Chd8 A C 14: 52,451,757 (GRCm39) N16K possibly damaging Het
Crtc3 A T 7: 80,242,315 (GRCm39) D499E probably damaging Het
Cul3 A G 1: 80,249,432 (GRCm39) probably benign Het
D430041D05Rik T C 2: 104,060,631 (GRCm39) D1421G probably damaging Het
Fgb T A 3: 82,952,367 (GRCm39) E167D probably benign Het
Gimap6 T A 6: 48,679,409 (GRCm39) Q209L probably damaging Het
Gm3604 G A 13: 62,517,990 (GRCm39) H123Y possibly damaging Het
Gm5884 A T 6: 128,622,749 (GRCm39) noncoding transcript Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Obox3 T C 7: 15,360,848 (GRCm39) E97G probably damaging Het
Obsl1 T C 1: 75,466,264 (GRCm39) H1488R probably benign Het
Or4e1 A T 14: 52,700,802 (GRCm39) Y221* probably null Het
Or6c75 A G 10: 129,337,723 (GRCm39) *323W probably null Het
Pak5 T A 2: 135,958,855 (GRCm39) K78* probably null Het
Paqr9 A G 9: 95,442,877 (GRCm39) N289S probably damaging Het
Pde3b G A 7: 114,122,577 (GRCm39) R715H probably damaging Het
Pglyrp2 T C 17: 32,634,835 (GRCm39) H509R probably benign Het
Pik3ap1 A C 19: 41,290,881 (GRCm39) N550K probably benign Het
Pon3 A G 6: 5,221,671 (GRCm39) Y320H probably damaging Het
Ptprt T A 2: 161,608,227 (GRCm39) T690S probably benign Het
Ptprz1 T A 6: 23,000,686 (GRCm39) D925E probably benign Het
Rag1 T C 2: 101,473,018 (GRCm39) D708G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rbmy1b A G Y: 3,774,885 (GRCm39) I27M probably benign Het
Rfx2 G A 17: 57,092,354 (GRCm39) H315Y possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sis T C 3: 72,820,543 (GRCm39) N1407S probably benign Het
Slco1c1 T A 6: 141,490,555 (GRCm39) L261Q probably damaging Het
Sox30 T G 11: 45,875,589 (GRCm39) L447R possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stat4 C T 1: 52,137,574 (GRCm39) S455F probably damaging Het
Stk4 T A 2: 163,928,462 (GRCm39) L97Q probably damaging Het
Sulf1 A T 1: 12,856,869 (GRCm39) N40I probably damaging Het
Sympk G A 7: 18,782,794 (GRCm39) V877I probably benign Het
Taar7b A T 10: 23,876,204 (GRCm39) H123L probably damaging Het
Teddm1b A G 1: 153,750,362 (GRCm39) Y57C probably damaging Het
Tep1 A T 14: 51,070,935 (GRCm39) C2121* probably null Het
Tnfsf11 T A 14: 78,537,385 (GRCm39) R93* probably null Het
Tspan12 A C 6: 21,835,378 (GRCm39) probably benign Het
Tyrp1 A G 4: 80,759,012 (GRCm39) E295G probably null Het
Vps4a T C 8: 107,769,693 (GRCm39) I334T probably damaging Het
Zfhx3 T C 8: 109,583,462 (GRCm39) S1110P probably damaging Het
Zfp507 A G 7: 35,491,136 (GRCm39) S716P probably damaging Het
Other mutations in Ssu72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02126:Ssu72 APN 4 155,816,483 (GRCm39) missense probably benign 0.37
R1575:Ssu72 UTSW 4 155,815,814 (GRCm39) missense probably benign 0.03
R2145:Ssu72 UTSW 4 155,789,900 (GRCm39) missense probably damaging 0.98
R2517:Ssu72 UTSW 4 155,817,970 (GRCm39) missense probably damaging 1.00
R3935:Ssu72 UTSW 4 155,789,876 (GRCm39) missense probably benign 0.28
R4542:Ssu72 UTSW 4 155,817,934 (GRCm39) missense probably benign 0.00
R4851:Ssu72 UTSW 4 155,800,053 (GRCm39) missense possibly damaging 0.51
R5419:Ssu72 UTSW 4 155,800,007 (GRCm39) missense probably damaging 1.00
R6524:Ssu72 UTSW 4 155,799,997 (GRCm39) missense probably null 1.00
R7146:Ssu72 UTSW 4 155,815,850 (GRCm39) missense probably damaging 0.99
R7530:Ssu72 UTSW 4 155,815,786 (GRCm39) missense probably benign 0.00
R7996:Ssu72 UTSW 4 155,816,450 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16