Incidental Mutation 'IGL02126:Ssu72'
ID280886
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: 0.960) question?
Stock #IGL02126
Quality Score
Status
Chromosome4
Chromosomal Location155704800-155733879 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 155732026 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 155 (I155T)
Ref Sequence ENSEMBL: ENSMUSP00000101220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030905] [ENSMUST00000105595] [ENSMUST00000127188] [ENSMUST00000147721]
Predicted Effect probably benign
Transcript: ENSMUST00000030905
AA Change: I155T

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030905
Gene: ENSMUSG00000029038
AA Change: I155T

DomainStartEndE-ValueType
Pfam:Ssu72 6 194 1.3e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105595
AA Change: I155T

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101220
Gene: ENSMUSG00000029038
AA Change: I155T

DomainStartEndE-ValueType
Pfam:Ssu72 4 176 2.8e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127188
SMART Domains Protein: ENSMUSP00000127341
Gene: ENSMUSG00000084845

DomainStartEndE-ValueType
Pfam:TMEM240 1 173 3.8e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147721
SMART Domains Protein: ENSMUSP00000130974
Gene: ENSMUSG00000084845

DomainStartEndE-ValueType
Pfam:TMEM240 1 173 1.5e-100 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178987
SMART Domains Protein: ENSMUSP00000136958
Gene: ENSMUSG00000096221

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 41 52 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197451
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,139,856 V365M probably damaging Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Angptl3 T C 4: 99,031,501 probably null Het
Atoh1 T C 6: 64,729,350 W10R probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Ccm2 A G 11: 6,594,154 T317A probably damaging Het
Ccnt1 A T 15: 98,567,603 W12R probably damaging Het
Celf1 T A 2: 91,001,063 L79H probably damaging Het
Cmip T C 8: 117,449,031 V423A probably damaging Het
Ddr1 T A 17: 35,688,589 I431F probably damaging Het
Dnah6 A G 6: 73,103,166 L2343P probably benign Het
Duox1 A G 2: 122,346,336 D1446G probably benign Het
Erich3 A G 3: 154,713,962 H231R possibly damaging Het
Fam221b T A 4: 43,666,450 I54F probably benign Het
Galntl5 T C 5: 25,189,841 F69L possibly damaging Het
Gba2 T G 4: 43,567,918 probably null Het
Gbf1 C A 19: 46,252,117 P46Q probably damaging Het
Gimap6 T G 6: 48,702,701 S134R probably damaging Het
Gm5424 A C 10: 62,071,598 noncoding transcript Het
Gm5724 T A 6: 141,739,013 T239S probably benign Het
Hexb T C 13: 97,178,024 K404E possibly damaging Het
Hs3st3a1 G A 11: 64,436,505 V147M probably damaging Het
Hsd17b4 T C 18: 50,181,996 V610A probably benign Het
Loxl3 T A 6: 83,048,647 W329R probably damaging Het
Lrrc52 A G 1: 167,446,006 F247S probably damaging Het
Naa38 C T 11: 69,396,219 R42W probably damaging Het
Nadsyn1 G A 7: 143,804,016 Q485* probably null Het
Nid1 A G 13: 13,489,158 probably null Het
Ofcc1 T C 13: 40,208,775 T224A probably benign Het
Olfr1029 T G 2: 85,976,173 I310S probably benign Het
Palld A G 8: 61,877,442 Y134H possibly damaging Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Pfn3 T C 13: 55,414,886 D94G possibly damaging Het
Pkhd1 G A 1: 20,117,195 R3630C probably damaging Het
Por T A 5: 135,715,975 F31I probably benign Het
Ppp1r12c T C 7: 4,489,859 E127G probably benign Het
Ppp1r9a T A 6: 5,156,229 S1162T probably damaging Het
Psen2 C A 1: 180,229,923 A297S probably benign Het
Rpusd2 G A 2: 119,038,638 R514Q probably damaging Het
Rxrg A G 1: 167,634,460 M235V probably damaging Het
Sash1 T C 10: 8,739,465 M644V probably damaging Het
Sf3b3 T C 8: 110,823,443 T648A probably benign Het
Tas2r102 A G 6: 132,762,644 R172G probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trav12-2 C A 14: 53,616,402 N2K probably damaging Het
Tyrp1 C T 4: 80,837,608 Q205* probably null Het
Ubr4 T A 4: 139,452,741 probably null Het
Ush2a A G 1: 188,263,391 S120G probably benign Het
Vmn2r100 T C 17: 19,521,242 probably benign Het
Zer1 G T 2: 30,104,916 T489K probably benign Het
Zfp955b G T 17: 33,302,264 G236* probably null Het
Other mutations in Ssu72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02601:Ssu72 APN 4 155705425 missense possibly damaging 0.90
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