Incidental Mutation 'IGL02601:Ssu72'
ID300101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ssu72
Ensembl Gene ENSMUSG00000029038
Gene NameSsu72 RNA polymerase II CTD phosphatase homolog (yeast)
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.953) question?
Stock #IGL02601
Quality Score
Status
Chromosome4
Chromosomal Location155704800-155733879 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 155705425 bp
ZygosityHeterozygous
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]
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: 139,307,786 V57M probably damaging Het
Agap3 A G 5: 24,483,371 K23E possibly damaging Het
Anln A T 9: 22,338,035 I132K probably damaging Het
Anxa4 T C 6: 86,760,701 T13A probably benign Het
Bdp1 A T 13: 100,098,514 Y191N possibly damaging Het
Carm1 G A 9: 21,586,908 V403M probably damaging Het
Cbx7 A G 15: 79,923,470 probably null Het
Chd8 A C 14: 52,214,300 N16K possibly damaging Het
Crtc3 A T 7: 80,592,567 D499E probably damaging Het
Cul3 A G 1: 80,271,715 probably benign Het
D430041D05Rik T C 2: 104,230,286 D1421G probably damaging Het
Fgb T A 3: 83,045,060 E167D probably benign Het
Gimap6 T A 6: 48,702,475 Q209L probably damaging Het
Gm3604 G A 13: 62,370,176 H123Y possibly damaging Het
Gm5884 A T 6: 128,645,786 noncoding transcript Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Obox3 T C 7: 15,626,923 E97G probably damaging Het
Obsl1 T C 1: 75,489,620 H1488R probably benign Het
Olfr1508 A T 14: 52,463,345 Y221* probably null Het
Olfr790 A G 10: 129,501,854 *323W probably null Het
Pak7 T A 2: 136,116,935 K78* probably null Het
Paqr9 A G 9: 95,560,824 N289S probably damaging Het
Pde3b G A 7: 114,523,342 R715H probably damaging Het
Pglyrp2 T C 17: 32,415,861 H509R probably benign Het
Pik3ap1 A C 19: 41,302,442 N550K probably benign Het
Pon3 A G 6: 5,221,671 Y320H probably damaging Het
Ptprt T A 2: 161,766,307 T690S probably benign Het
Ptprz1 T A 6: 23,000,687 D925E probably benign Het
Rag1 T C 2: 101,642,673 D708G probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rbmy1b A G Y: 3,774,885 I27M probably benign Het
Rfx2 G A 17: 56,785,354 H315Y possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sis T C 3: 72,913,210 N1407S probably benign Het
Slco1c1 T A 6: 141,544,829 L261Q probably damaging Het
Sox30 T G 11: 45,984,762 L447R possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stat4 C T 1: 52,098,415 S455F probably damaging Het
Stk4 T A 2: 164,086,542 L97Q probably damaging Het
Sulf1 A T 1: 12,786,645 N40I probably damaging Het
Sympk G A 7: 19,048,869 V877I probably benign Het
Taar7b A T 10: 24,000,306 H123L probably damaging Het
Teddm1b A G 1: 153,874,616 Y57C probably damaging Het
Tep1 A T 14: 50,833,478 C2121* probably null Het
Tnfsf11 T A 14: 78,299,945 R93* probably null Het
Tspan12 A C 6: 21,835,379 probably benign Het
Tyrp1 A G 4: 80,840,775 E295G probably null Het
Vps4a T C 8: 107,043,061 I334T probably damaging Het
Zfhx3 T C 8: 108,856,830 S1110P probably damaging Het
Zfp507 A G 7: 35,791,711 S716P probably damaging Het
Other mutations in Ssu72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02126:Ssu72 APN 4 155732026 missense probably benign 0.37
R1575:Ssu72 UTSW 4 155731357 missense probably benign 0.03
R2145:Ssu72 UTSW 4 155705443 missense probably damaging 0.98
R2517:Ssu72 UTSW 4 155733513 missense probably damaging 1.00
R3935:Ssu72 UTSW 4 155705419 missense probably benign 0.28
R4542:Ssu72 UTSW 4 155733477 missense probably benign 0.00
R4851:Ssu72 UTSW 4 155715596 missense possibly damaging 0.51
R5419:Ssu72 UTSW 4 155715550 missense probably damaging 1.00
R6524:Ssu72 UTSW 4 155715540 missense probably null 1.00
R7146:Ssu72 UTSW 4 155731393 missense probably damaging 0.99
R7530:Ssu72 UTSW 4 155731329 missense probably benign 0.00
Posted On2015-04-16