Incidental Mutation 'R9652:Ssb'
ID 735351
Institutional Source Beutler Lab
Gene Symbol Ssb
Ensembl Gene ENSMUSG00000068882
Gene Name small RNA binding exonuclease protection factor La
Synonyms SS-B, Sjogren syndrome antigen B, La protein, autoantigen La
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9652 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 69691906-69702190 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 69700784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 288 (A288E)
Ref Sequence ENSEMBL: ENSMUSP00000088365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060447] [ENSMUST00000090852] [ENSMUST00000112260] [ENSMUST00000132186] [ENSMUST00000142127] [ENSMUST00000166411]
AlphaFold P32067
Predicted Effect probably benign
Transcript: ENSMUST00000060447
SMART Domains Protein: ENSMUSP00000050907
Gene: ENSMUSG00000051730

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
Pfam:Cons_hypoth95 21 184 1.8e-12 PFAM
Pfam:UPF0020 25 170 3.8e-8 PFAM
Pfam:PrmA 35 127 8.4e-14 PFAM
Pfam:MTS 36 174 2.2e-16 PFAM
Pfam:Methyltransf_31 49 199 4e-15 PFAM
Pfam:Methyltransf_18 51 171 8.1e-11 PFAM
Pfam:Methyltransf_15 52 179 1.1e-9 PFAM
Pfam:Methyltransf_26 52 182 3.9e-8 PFAM
Pfam:Methyltransf_25 55 171 5.2e-8 PFAM
Pfam:Methyltransf_11 56 131 8e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000090852
AA Change: A288E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088365
Gene: ENSMUSG00000068882
AA Change: A288E

DomainStartEndE-ValueType
LA 11 92 2.19e-42 SMART
RRM 112 183 1.6e-4 SMART
Pfam:RRM_3 230 333 2.2e-32 PFAM
low complexity region 375 386 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112260
SMART Domains Protein: ENSMUSP00000107879
Gene: ENSMUSG00000068882

DomainStartEndE-ValueType
LA 11 92 2.19e-42 SMART
RRM 112 183 1.6e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132186
SMART Domains Protein: ENSMUSP00000119773
Gene: ENSMUSG00000068882

DomainStartEndE-ValueType
LA 11 92 2.19e-42 SMART
Pfam:RRM_1 113 154 2.6e-6 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000115666
Gene: ENSMUSG00000068882
AA Change: A103E

DomainStartEndE-ValueType
Pfam:RRM_3 46 149 2.5e-33 PFAM
low complexity region 190 201 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142127
SMART Domains Protein: ENSMUSP00000121474
Gene: ENSMUSG00000051730

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
Pfam:Cons_hypoth95 21 141 8.7e-12 PFAM
Pfam:UPF0020 24 141 1.4e-11 PFAM
Pfam:Methyltransf_16 31 126 5e-7 PFAM
Pfam:PrmA 34 127 4e-15 PFAM
Pfam:MTS 35 141 1.4e-17 PFAM
Pfam:Methyltransf_31 49 142 5.2e-15 PFAM
Pfam:Methyltransf_18 51 141 1.4e-11 PFAM
Pfam:Methyltransf_15 52 140 4.5e-9 PFAM
Pfam:Methyltransf_26 52 140 1.3e-14 PFAM
Pfam:Methyltransf_25 55 142 4.7e-8 PFAM
Pfam:Methyltransf_11 56 134 3.8e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166411
AA Change: A288E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130313
Gene: ENSMUSG00000068882
AA Change: A288E

DomainStartEndE-ValueType
LA 11 92 2.19e-42 SMART
RRM 112 183 1.6e-4 SMART
Pfam:RRM_3 230 333 1.9e-35 PFAM
low complexity region 375 386 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.6%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos, possible before implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 G A 18: 61,876,432 (GRCm39) T395M probably damaging Het
Akap8l T C 17: 32,557,783 (GRCm39) N35D probably damaging Het
Atr T A 9: 95,756,887 (GRCm39) L922Q probably damaging Het
B3gnt9 G T 8: 105,981,129 (GRCm39) F86L probably damaging Het
Bmp1 T C 14: 70,715,360 (GRCm39) D925G probably damaging Het
Camkmt A T 17: 85,759,713 (GRCm39) R284S probably benign Het
Cavin3 G T 7: 105,131,304 (GRCm39) H21Q probably damaging Het
Ccp110 A G 7: 118,334,553 (GRCm39) H180R Het
Cdh23 A T 10: 60,167,135 (GRCm39) V1837E probably damaging Het
Ces3b G T 8: 105,812,257 (GRCm39) A169S probably damaging Het
Chpt1 T C 10: 88,325,499 (GRCm39) N122S probably benign Het
Cramp1 C A 17: 25,201,783 (GRCm39) K566N probably damaging Het
Ctbp2 C G 7: 132,615,933 (GRCm39) R334P probably damaging Het
Cwh43 T C 5: 73,572,340 (GRCm39) S193P probably benign Het
Dcstamp A T 15: 39,623,792 (GRCm39) D469V probably benign Het
Dst T A 1: 34,219,458 (GRCm39) I1966N probably benign Het
Eif3i G T 4: 129,489,094 (GRCm39) F121L probably benign Het
Erbb2 T C 11: 98,326,812 (GRCm39) S1074P probably damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fbn2 A G 18: 58,146,722 (GRCm39) probably null Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Gm2a T C 11: 54,999,764 (GRCm39) V95A probably benign Het
Gp5 A C 16: 30,128,393 (GRCm39) F94V probably damaging Het
Gramd4 G A 15: 86,016,160 (GRCm39) E504K probably damaging Het
Gusb A G 5: 130,026,652 (GRCm39) S450P probably damaging Het
Htr5a A G 5: 28,047,838 (GRCm39) N131S possibly damaging Het
Itga2 G A 13: 115,020,991 (GRCm39) P120L probably benign Het
Itpkb G T 1: 180,160,056 (GRCm39) E61* probably null Het
Katnbl1 T A 2: 112,239,497 (GRCm39) V232D probably damaging Het
Kifap3 T C 1: 163,689,657 (GRCm39) L547P probably damaging Het
Krt6a C T 15: 101,599,120 (GRCm39) V482M probably benign Het
Lrfn5 T A 12: 61,890,418 (GRCm39) V569D probably damaging Het
Luzp2 A G 7: 54,702,580 (GRCm39) T48A probably damaging Het
Mical2 G T 7: 111,945,996 (GRCm39) R986L probably damaging Het
Mroh8 G A 2: 157,094,970 (GRCm39) Q339* probably null Het
Msln A T 17: 25,968,042 (GRCm39) V541E probably damaging Het
Muc16 T A 9: 18,498,178 (GRCm39) M6590L probably benign Het
Nhsl3 T C 4: 129,117,962 (GRCm39) E279G possibly damaging Het
Nisch A T 14: 30,893,628 (GRCm39) V1315E probably damaging Het
Nubp2 G A 17: 25,103,382 (GRCm39) T165I probably damaging Het
Oog3 T G 4: 143,884,489 (GRCm39) R482S probably benign Het
Or2a7 A G 6: 43,150,991 (GRCm39) M24V probably benign Het
Or56a42-ps1 A T 7: 104,775,985 (GRCm39) N164K probably benign Het
Or6c33 T C 10: 129,853,809 (GRCm39) I193T possibly damaging Het
Or7a41 T C 10: 78,871,230 (GRCm39) I200T probably benign Het
Or8k39 A T 2: 86,563,636 (GRCm39) F107I probably damaging Het
P3h4 A T 11: 100,304,499 (GRCm39) C247* probably null Het
Pakap G A 4: 57,710,125 (GRCm39) A357T possibly damaging Het
Plch2 T A 4: 155,082,942 (GRCm39) M569L probably benign Het
Plcl1 A G 1: 55,735,450 (GRCm39) T264A probably benign Het
Rad51ap1 G T 6: 126,904,526 (GRCm39) N178K probably benign Het
Rasa4 T C 5: 136,130,494 (GRCm39) L340P probably damaging Het
Rassf10 A G 7: 112,554,784 (GRCm39) T462A probably benign Het
Rlf G C 4: 121,007,865 (GRCm39) L482V probably damaging Het
Robo1 T G 16: 72,821,330 (GRCm39) S1357A possibly damaging Het
Rp1l1 T C 14: 64,269,714 (GRCm39) S1767P probably damaging Het
Rpl3l T A 17: 24,947,328 (GRCm39) L14Q probably damaging Het
Ryr3 T A 2: 112,635,047 (GRCm39) T2024S possibly damaging Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Sema6a T C 18: 47,382,252 (GRCm39) Q765R probably damaging Het
Senp6 T A 9: 80,021,228 (GRCm39) Y303N probably damaging Het
Sertad4 C T 1: 192,528,836 (GRCm39) D327N probably damaging Het
Slc22a15 T A 3: 101,790,848 (GRCm39) Y219F possibly damaging Het
Slco1b2 T G 6: 141,594,358 (GRCm39) probably null Het
Snrnp200 G T 2: 127,067,959 (GRCm39) V819L probably damaging Het
Syne2 A G 12: 76,101,620 (GRCm39) H638R probably benign Het
Tm7sf3 A G 6: 146,527,698 (GRCm39) S43P probably benign Het
Tmem200c A G 17: 69,149,181 (GRCm39) H588R probably benign Het
Tnpo3 G A 6: 29,560,173 (GRCm39) R657* probably null Het
Traf6 T C 2: 101,518,927 (GRCm39) C139R probably damaging Het
Txnrd1 C A 10: 82,720,390 (GRCm39) N424K possibly damaging Het
Ubqln3 T C 7: 103,791,962 (GRCm39) I43V probably damaging Het
Usp32 A G 11: 84,921,317 (GRCm39) V699A probably damaging Het
Vmn2r103 T C 17: 20,014,027 (GRCm39) V273A probably benign Het
Vmn2r8 A G 5: 108,951,107 (GRCm39) S113P probably benign Het
Wdr7 T A 18: 63,860,826 (GRCm39) I161N probably damaging Het
Zfp474 A T 18: 52,772,015 (GRCm39) I223F probably damaging Het
Zfp583 A G 7: 6,320,328 (GRCm39) L228P probably damaging Het
Zfyve27 A G 19: 42,165,856 (GRCm39) T76A possibly damaging Het
Other mutations in Ssb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Ssb APN 2 69,696,606 (GRCm39) missense probably benign 0.06
IGL00940:Ssb APN 2 69,701,179 (GRCm39) critical splice donor site probably null
IGL00941:Ssb APN 2 69,701,179 (GRCm39) critical splice donor site probably null
IGL01834:Ssb APN 2 69,701,147 (GRCm39) missense possibly damaging 0.89
R0713:Ssb UTSW 2 69,697,703 (GRCm39) missense probably benign 0.06
R0716:Ssb UTSW 2 69,697,703 (GRCm39) missense probably benign 0.06
R0751:Ssb UTSW 2 69,700,909 (GRCm39) missense probably benign
R1139:Ssb UTSW 2 69,696,920 (GRCm39) missense possibly damaging 0.66
R1928:Ssb UTSW 2 69,697,901 (GRCm39) splice site probably null
R2037:Ssb UTSW 2 69,699,163 (GRCm39) missense probably benign 0.16
R3968:Ssb UTSW 2 69,697,793 (GRCm39) splice site probably benign
R4674:Ssb UTSW 2 69,699,194 (GRCm39) missense probably benign 0.01
R5039:Ssb UTSW 2 69,696,581 (GRCm39) missense possibly damaging 0.79
R5551:Ssb UTSW 2 69,701,474 (GRCm39) missense probably damaging 0.99
R6102:Ssb UTSW 2 69,701,552 (GRCm39) makesense probably null
R7126:Ssb UTSW 2 69,696,845 (GRCm39) missense possibly damaging 0.70
R7448:Ssb UTSW 2 69,693,624 (GRCm39) missense probably benign
R7590:Ssb UTSW 2 69,697,634 (GRCm39) missense probably benign 0.08
R9499:Ssb UTSW 2 69,696,982 (GRCm39) missense probably benign
R9551:Ssb UTSW 2 69,696,982 (GRCm39) missense probably benign
R9753:Ssb UTSW 2 69,697,865 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGGGAGGAACAGGTCATG -3'
(R):5'- TTAAATCTGCGGGCTGCTG -3'

Sequencing Primer
(F):5'- TTGGGAGGAACAGGTCATGAAAATTG -3'
(R):5'- GGCTGCTGTAAAAACATGGCTTC -3'
Posted On 2022-11-14