Incidental Mutation 'R2394:Ssbp1'
ID 247906
Institutional Source Beutler Lab
Gene Symbol Ssbp1
Ensembl Gene ENSMUSG00000029911
Gene Name single-stranded DNA binding protein 1
Synonyms 2810480P10Rik, G630031O20Rik, mtDBP
MMRRC Submission 040362-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2394 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 40448302-40458757 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40453743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 96 (D96E)
Ref Sequence ENSEMBL: ENSMUSP00000113563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031971] [ENSMUST00000114779] [ENSMUST00000117411] [ENSMUST00000117830] [ENSMUST00000121360]
AlphaFold Q9CYR0
Predicted Effect probably benign
Transcript: ENSMUST00000031971
AA Change: D96E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000031971
Gene: ENSMUSG00000029911
AA Change: D96E

DomainStartEndE-ValueType
Pfam:SSB 30 140 2.1e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114779
AA Change: D96E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000110427
Gene: ENSMUSG00000029911
AA Change: D96E

DomainStartEndE-ValueType
Pfam:SSB 30 140 1.6e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117411
AA Change: D96E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000114082
Gene: ENSMUSG00000029911
AA Change: D96E

DomainStartEndE-ValueType
Pfam:SSB 30 140 1.6e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117830
SMART Domains Protein: ENSMUSP00000113815
Gene: ENSMUSG00000029911

DomainStartEndE-ValueType
Pfam:SSB 30 75 8.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121360
AA Change: D96E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113563
Gene: ENSMUSG00000029911
AA Change: D96E

DomainStartEndE-ValueType
Pfam:SSB 30 140 1.6e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201570
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L13Rik A T 7: 29,980,053 (GRCm39) probably benign Het
Abca17 T C 17: 24,500,190 (GRCm39) probably null Het
Atxn7 T C 14: 14,100,237 (GRCm38) V641A probably damaging Het
C3 G A 17: 57,529,303 (GRCm39) Q30* probably null Het
Ccdc162 A G 10: 41,445,894 (GRCm39) I426T probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cwc27 A C 13: 104,932,942 (GRCm39) D253E probably benign Het
Cyp1a1 T A 9: 57,607,432 (GRCm39) V20D probably benign Het
Dmbt1 T A 7: 130,696,464 (GRCm39) Y892* probably null Het
Dnhd1 T A 7: 105,369,438 (GRCm39) Y4354N probably benign Het
Dync2li1 T A 17: 84,952,175 (GRCm39) I202K possibly damaging Het
Dyrk1a T A 16: 94,485,991 (GRCm39) V446E probably benign Het
Efcab3 C A 11: 104,629,121 (GRCm39) T933K probably benign Het
Fam186b T C 15: 99,178,058 (GRCm39) I423V probably benign Het
Gm5108 T C 5: 68,132,475 (GRCm39) probably benign Het
Htr3a A G 9: 48,817,643 (GRCm39) V110A probably benign Het
Itsn2 C A 12: 4,757,005 (GRCm39) S1365Y possibly damaging Het
Lrrc46 T C 11: 96,929,657 (GRCm39) I60V probably damaging Het
Mtrex A T 13: 113,019,702 (GRCm39) Y803N probably benign Het
Nlrp14 T C 7: 106,797,031 (GRCm39) V307A probably benign Het
Nt5c2 A G 19: 46,878,506 (GRCm39) probably null Het
Obox2 C T 7: 15,130,935 (GRCm39) P56S possibly damaging Het
Olfml2b A G 1: 170,477,319 (GRCm39) I151M possibly damaging Het
Oog3 T A 4: 143,885,884 (GRCm39) D238V probably benign Het
Pde11a T C 2: 75,889,405 (GRCm39) T690A probably benign Het
Ppa1 A G 10: 61,508,163 (GRCm39) probably benign Het
Ppfia2 A G 10: 106,655,351 (GRCm39) E306G probably damaging Het
Ppic G A 18: 53,544,119 (GRCm39) R89C probably damaging Het
Ptprk T G 10: 28,427,713 (GRCm39) I764S probably damaging Het
Ripk2 T C 4: 16,132,774 (GRCm39) probably benign Het
Rnf123 A G 9: 107,940,735 (GRCm39) M702T probably benign Het
Slco1b2 T C 6: 141,615,100 (GRCm39) I335T probably damaging Het
Tpp2 T A 1: 44,022,346 (GRCm39) S915T possibly damaging Het
Unc5c A T 3: 141,383,892 (GRCm39) Q90L probably damaging Het
Vmn2r57 A G 7: 41,049,619 (GRCm39) I710T possibly damaging Het
Wdr90 G A 17: 26,070,429 (GRCm39) P1104L probably damaging Het
Other mutations in Ssbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Ssbp1 APN 6 40,455,004 (GRCm39) intron probably benign
IGL01685:Ssbp1 APN 6 40,453,699 (GRCm39) missense probably damaging 0.98
R2089:Ssbp1 UTSW 6 40,453,433 (GRCm39) missense probably null 0.98
R2091:Ssbp1 UTSW 6 40,453,433 (GRCm39) missense probably null 0.98
R2091:Ssbp1 UTSW 6 40,453,433 (GRCm39) missense probably null 0.98
R4284:Ssbp1 UTSW 6 40,454,851 (GRCm39) splice site probably null
R4738:Ssbp1 UTSW 6 40,454,914 (GRCm39) missense probably damaging 0.97
R5148:Ssbp1 UTSW 6 40,454,883 (GRCm39) missense possibly damaging 0.51
R5790:Ssbp1 UTSW 6 40,457,804 (GRCm39) missense probably benign 0.22
R5849:Ssbp1 UTSW 6 40,453,837 (GRCm39) intron probably benign
R6318:Ssbp1 UTSW 6 40,453,687 (GRCm39) missense probably benign 0.00
R6484:Ssbp1 UTSW 6 40,451,600 (GRCm39) missense probably damaging 1.00
R7739:Ssbp1 UTSW 6 40,454,914 (GRCm39) missense probably damaging 0.97
R8470:Ssbp1 UTSW 6 40,454,941 (GRCm39) missense probably damaging 1.00
R9335:Ssbp1 UTSW 6 40,454,955 (GRCm39) missense probably damaging 0.97
R9563:Ssbp1 UTSW 6 40,454,968 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGGTGAGTGTAAAAGGCCC -3'
(R):5'- ACAGATGCTGTTTGTCCTAACTTGTC -3'

Sequencing Primer
(F):5'- TGAGTGTAAAAGGCCCTAGTTG -3'
(R):5'- TTGTCAGCGGGCTAAAACC -3'
Posted On 2014-11-11