Incidental Mutation 'R3935:Ssu72'
ID 307125
Institutional Source Beutler Lab
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 # R3935 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 155789272-155818336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 155789876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 13 (S13L)
Ref Sequence ENSEMBL: ENSMUSP00000101220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030905] [ENSMUST00000105595]
AlphaFold Q9CY97
Predicted Effect probably benign
Transcript: ENSMUST00000030905
AA Change: S13L

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030905
Gene: ENSMUSG00000029038
AA Change: S13L

DomainStartEndE-ValueType
Pfam:Ssu72 6 194 1.3e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105595
AA Change: S13L

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101220
Gene: ENSMUSG00000029038
AA Change: S13L

DomainStartEndE-ValueType
Pfam:Ssu72 4 176 2.8e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140322
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arx T A X: 92,340,975 (GRCm39) L554Q probably damaging Het
Baz2b A G 2: 59,743,105 (GRCm39) V1622A possibly damaging Het
Bbof1 A G 12: 84,457,984 (GRCm39) D83G probably damaging Het
Ccdc47 T C 11: 106,092,823 (GRCm39) probably benign Het
Clstn3 G A 6: 124,434,901 (GRCm39) T338I probably damaging Het
Dsc1 T A 18: 20,230,298 (GRCm39) T336S probably benign Het
Elk3 A G 10: 93,101,035 (GRCm39) S239P possibly damaging Het
Fbll1 T A 11: 35,688,475 (GRCm39) I263F probably damaging Het
Fbxw8 T G 5: 118,233,783 (GRCm39) I283L probably benign Het
Fcgbp T C 7: 27,774,824 (GRCm39) F133L probably benign Het
Gpr176 A G 2: 118,109,777 (GRCm39) V494A probably benign Het
Gpr85 A G 6: 13,836,044 (GRCm39) F287L probably benign Het
Hoxd11 A G 2: 74,514,376 (GRCm39) N302S probably benign Het
Iqgap1 T G 7: 80,393,585 (GRCm39) Y664S possibly damaging Het
Kansl1 A T 11: 104,234,369 (GRCm39) D712E possibly damaging Het
Kif1b T C 4: 149,321,617 (GRCm39) N1101D probably benign Het
Kyat1 A G 2: 30,075,761 (GRCm39) L376P probably damaging Het
Lztr1 T A 16: 17,340,059 (GRCm39) Y93* probably null Het
Nrip1 A G 16: 76,091,323 (GRCm39) M78T possibly damaging Het
P4hb A C 11: 120,453,235 (GRCm39) H440Q probably benign Het
Pbsn T C X: 76,891,702 (GRCm39) T32A probably damaging Het
Prg4 A G 1: 150,333,908 (GRCm39) I152T possibly damaging Het
Prss36 A G 7: 127,533,780 (GRCm39) L8P probably damaging Het
Prune2 T C 19: 17,177,150 (GRCm39) V2930A probably damaging Het
Ptchd4 G C 17: 42,814,380 (GRCm39) L760F possibly damaging Het
Rbms3 A G 9: 116,465,459 (GRCm39) L163P probably damaging Het
Scn1a T C 2: 66,158,120 (GRCm39) I418V probably damaging Het
Sf3a1 T A 11: 4,130,024 (GRCm39) probably null Het
Sirpb1b T A 3: 15,613,843 (GRCm39) T80S probably benign Het
Slc16a7 C A 10: 125,066,712 (GRCm39) R309L probably damaging Het
Slc35f1 C T 10: 52,984,314 (GRCm39) T358I probably damaging Het
Slmap T C 14: 26,180,570 (GRCm39) E411G probably benign Het
Sult2b1 C T 7: 45,391,640 (GRCm39) V49M probably benign Het
Tmem80 T C 7: 140,913,938 (GRCm39) Y30H probably damaging Het
Other mutations in Ssu72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02126:Ssu72 APN 4 155,816,483 (GRCm39) missense probably benign 0.37
IGL02601:Ssu72 APN 4 155,789,882 (GRCm39) missense possibly damaging 0.90
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
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
Predicted Primers PCR Primer
(F):5'- GACGGTACATTAGGACGCAG -3'
(R):5'- TTTACGGGGATGCCTACACTACC -3'

Sequencing Primer
(F):5'- CTGCTCTCAGGCTGATTCGG -3'
(R):5'- ATGCCTACACTACCGAGGGTG -3'
Posted On 2015-04-17