Incidental Mutation 'R5148:Ssbp1'
ID 395198
Institutional Source Beutler Lab
Gene Symbol Ssbp1
Ensembl Gene ENSMUSG00000029911
Gene Name single-stranded DNA binding protein 1
Synonyms 2810480P10Rik, G630031O20Rik, mtDBP
MMRRC Submission 043262-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5148 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 40448302-40458757 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40454883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 114 (V114A)
Ref Sequence ENSEMBL: ENSMUSP00000031971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031971] [ENSMUST00000114779] [ENSMUST00000117411] [ENSMUST00000117830] [ENSMUST00000121360]
AlphaFold Q9CYR0
Predicted Effect possibly damaging
Transcript: ENSMUST00000031971
AA Change: V114A

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031971
Gene: ENSMUSG00000029911
AA Change: V114A

DomainStartEndE-ValueType
Pfam:SSB 30 140 2.1e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114779
AA Change: V114A

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000110427
Gene: ENSMUSG00000029911
AA Change: V114A

DomainStartEndE-ValueType
Pfam:SSB 30 140 1.6e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117411
AA Change: V114A

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114082
Gene: ENSMUSG00000029911
AA Change: V114A

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: V114A

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113563
Gene: ENSMUSG00000029911
AA Change: V114A

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (48/48)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 A T 3: 126,819,285 (GRCm39) probably null Het
Atf7 A G 15: 102,455,608 (GRCm39) M252T probably benign Het
Cacna1h C A 17: 25,606,519 (GRCm39) D1027Y probably damaging Het
Cngb1 A G 8: 95,992,611 (GRCm39) V667A probably benign Het
Cntf T C 19: 12,741,368 (GRCm39) E164G probably damaging Het
Dbt T C 3: 116,321,893 (GRCm39) probably benign Het
Egfem1 G A 3: 29,511,972 (GRCm39) probably benign Het
Gm12790 C T 4: 101,825,268 (GRCm39) V49I possibly damaging Het
Gm5444 C T 13: 4,884,314 (GRCm39) noncoding transcript Het
Gpcpd1 A T 2: 132,376,110 (GRCm39) Y574* probably null Het
Gss G T 2: 155,415,029 (GRCm39) N225K possibly damaging Het
Il17rc G T 6: 113,459,958 (GRCm39) A635S probably benign Het
Lhfpl5 T A 17: 28,798,942 (GRCm39) D150E probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lrrc40 T G 3: 157,760,206 (GRCm39) probably null Het
Ly6f A G 15: 75,143,646 (GRCm39) T118A probably benign Het
Malrd1 A G 2: 16,147,037 (GRCm39) N1960D unknown Het
Map3k14 T C 11: 103,130,158 (GRCm39) H253R probably benign Het
Morc2a T C 11: 3,639,084 (GRCm39) L1025P probably damaging Het
Nlrc5 G T 8: 95,203,321 (GRCm39) G474W probably damaging Het
Olr1 G T 6: 129,470,572 (GRCm39) D198E probably benign Het
Or5b123 C A 19: 13,596,874 (GRCm39) S116* probably null Het
Or5d14 G A 2: 87,880,737 (GRCm39) T77I probably benign Het
Or8c16 T C 9: 38,130,317 (GRCm39) I66T probably benign Het
Pafah1b1 A T 11: 74,575,278 (GRCm39) S209T probably damaging Het
Phf14 A T 6: 11,961,641 (GRCm39) Y426F possibly damaging Het
Phldb1 A G 9: 44,615,455 (GRCm39) V855A probably benign Het
Pira2 T G 7: 3,847,592 (GRCm39) R32S possibly damaging Het
Pnldc1 T C 17: 13,111,676 (GRCm39) I344V probably benign Het
Prss29 T C 17: 25,539,881 (GRCm39) V93A probably benign Het
Ptpn13 C T 5: 103,640,098 (GRCm39) L186F probably damaging Het
Ralgps1 A C 2: 33,048,999 (GRCm39) C303W probably damaging Het
Sdr42e1 T A 8: 118,390,342 (GRCm39) N100Y probably damaging Het
Serpina11 A T 12: 103,952,503 (GRCm39) L96Q probably damaging Het
Slc12a8 G A 16: 33,445,288 (GRCm39) R448H probably benign Het
Snrpd1 T A 18: 10,626,892 (GRCm39) V53E probably benign Het
T A G 17: 8,655,037 (GRCm39) E47G probably damaging Het
Tmem156 T C 5: 65,231,111 (GRCm39) K189R probably benign Het
Trim47 G T 11: 115,998,678 (GRCm39) Q314K possibly damaging Het
Vmn2r3 G T 3: 64,186,247 (GRCm39) P146Q probably damaging Het
Vmn2r6 A C 3: 64,464,015 (GRCm39) V273G probably damaging Het
Wrnip1 G T 13: 32,990,839 (GRCm39) R366L probably damaging Het
Zfp981 A T 4: 146,621,357 (GRCm39) H94L 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
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
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
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'- AGATTGCATTGTGTTTCAGTCC -3'
(R):5'- TGGACAACATTAGCACACAGG -3'

Sequencing Primer
(F):5'- GCATTGTGTTTCAGTCCTCTTAG -3'
(R):5'- CCCTGGGGAGTTTCCTGCAG -3'
Posted On 2016-06-21