Incidental Mutation 'R2089:Ssbp1'
ID 231654
Institutional Source Beutler Lab
Gene Symbol Ssbp1
Ensembl Gene ENSMUSG00000029911
Gene Name single-stranded DNA binding protein 1
Synonyms 2810480P10Rik, G630031O20Rik, mtDBP
MMRRC Submission 040094-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2089 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 40448302-40458757 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40453433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 73 (Y73C)
Ref Sequence ENSEMBL: ENSMUSP00000113815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031971] [ENSMUST00000114779] [ENSMUST00000117411] [ENSMUST00000117830] [ENSMUST00000121360]
AlphaFold Q9CYR0
Predicted Effect probably damaging
Transcript: ENSMUST00000031971
AA Change: Y73C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031971
Gene: ENSMUSG00000029911
AA Change: Y73C

DomainStartEndE-ValueType
Pfam:SSB 30 140 2.1e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114779
AA Change: Y73C

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110427
Gene: ENSMUSG00000029911
AA Change: Y73C

DomainStartEndE-ValueType
Pfam:SSB 30 140 1.6e-34 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000117411
AA Change: Y73C

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114082
Gene: ENSMUSG00000029911
AA Change: Y73C

DomainStartEndE-ValueType
Pfam:SSB 30 140 1.6e-34 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000117830
AA Change: Y73C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113815
Gene: ENSMUSG00000029911
AA Change: Y73C

DomainStartEndE-ValueType
Pfam:SSB 30 75 8.8e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121360
AA Change: Y73C

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113563
Gene: ENSMUSG00000029911
AA Change: Y73C

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 0.1730 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (51/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik G C 2: 19,522,357 (GRCm39) N247K probably damaging Het
4930402F06Rik T C 2: 35,266,079 (GRCm39) K197R probably benign Het
Adgrl1 T C 8: 84,661,093 (GRCm39) I862T probably damaging Het
Agbl1 G A 7: 76,239,248 (GRCm39) V583M probably damaging Het
Apba2 T A 7: 64,345,341 (GRCm39) V177D probably benign Het
Atg14 A T 14: 47,780,352 (GRCm39) I474N probably damaging Het
Bicdl1 A G 5: 115,862,638 (GRCm39) S206P probably damaging Het
Bltp1 C T 3: 37,042,405 (GRCm39) T2797I probably damaging Het
Calhm3 T A 19: 47,140,430 (GRCm39) D221V probably damaging Het
Ccdc93 T A 1: 121,411,071 (GRCm39) probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dido1 A T 2: 180,303,677 (GRCm39) V1409E probably benign Het
Dsc2 G A 18: 20,166,351 (GRCm39) T760I possibly damaging Het
Etnk2 T G 1: 133,304,791 (GRCm39) probably null Het
Gbp7 A T 3: 142,240,383 (GRCm39) I34F probably damaging Het
Gbp7 A T 3: 142,251,316 (GRCm39) probably benign Het
Gpr37 A G 6: 25,689,062 (GRCm39) S12P possibly damaging Het
Grxcr1 T C 5: 68,267,755 (GRCm39) I168T probably damaging Het
Hat1 T C 2: 71,264,378 (GRCm39) V272A probably benign Het
Igkv8-30 A C 6: 70,094,070 (GRCm39) C114G probably damaging Het
Lrrc4 T G 6: 28,830,586 (GRCm39) D343A probably benign Het
Mars1 A G 10: 127,135,154 (GRCm39) S646P probably damaging Het
Micu3 G A 8: 40,761,413 (GRCm39) G108R probably benign Het
Mterf1b A T 5: 4,247,057 (GRCm39) T233S possibly damaging Het
Myrf A T 19: 10,201,964 (GRCm39) V171D possibly damaging Het
Nbas G A 12: 13,411,046 (GRCm39) D897N probably benign Het
Nfx1 T C 4: 40,977,004 (GRCm39) V226A probably benign Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Ntrk2 A G 13: 59,007,115 (GRCm39) H239R possibly damaging Het
Or10g9 T C 9: 39,912,500 (GRCm39) T8A probably benign Het
Pcdhb18 T C 18: 37,623,653 (GRCm39) S328P probably damaging Het
Pigm T C 1: 172,205,100 (GRCm39) Y279H probably damaging Het
Pik3cd A G 4: 149,737,156 (GRCm39) L880P probably damaging Het
Plaat3 A G 19: 7,556,474 (GRCm39) I92V probably damaging Het
Ptger4 T A 15: 5,272,326 (GRCm39) I98F possibly damaging Het
Rasl11a T A 5: 146,783,927 (GRCm39) I124N probably damaging Het
Rest A G 5: 77,429,126 (GRCm39) K515R possibly damaging Het
Ryr1 A G 7: 28,785,474 (GRCm39) L1746P probably damaging Het
Ryr2 G T 13: 11,960,863 (GRCm39) T25K probably benign Het
Serpina3g A T 12: 104,205,417 (GRCm39) D52V probably damaging Het
Skint6 T C 4: 112,703,881 (GRCm39) N998S probably benign Het
Sntg1 T A 1: 8,665,763 (GRCm39) T184S probably benign Het
Suclg1 A G 6: 73,241,259 (GRCm39) K193R probably benign Het
Tnrc18 A C 5: 142,759,396 (GRCm39) S813R unknown Het
Tnrc6a T C 7: 122,771,343 (GRCm39) probably null Het
Trap1 A C 16: 3,863,903 (GRCm39) Y472* probably null Het
Trpm8 T C 1: 88,271,048 (GRCm39) I446T probably damaging Het
Tti2 T C 8: 31,644,294 (GRCm39) L297P probably damaging Het
Umodl1 A G 17: 31,190,893 (GRCm39) M247V probably benign Het
Unc80 T A 1: 66,710,874 (GRCm39) probably benign Het
Zfp174 A G 16: 3,672,506 (GRCm39) R352G possibly 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
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
R2394:Ssbp1 UTSW 6 40,453,743 (GRCm39) missense probably benign 0.01
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'- ACATAGTCATCAGCTGTTCTCAG -3'
(R):5'- ATGCCAGCAGGTAACACAAATG -3'

Sequencing Primer
(F):5'- ATCAGCTGTTCTCAGTTTCATTTC -3'
(R):5'- CATGTCTCAGGAAAACAAGCTTTC -3'
Posted On 2014-09-18