Incidental Mutation 'R6288:Ssbp3'
ID 527957
Institutional Source Beutler Lab
Gene Symbol Ssbp3
Ensembl Gene ENSMUSG00000061887
Gene Name single-stranded DNA binding protein 3
Synonyms 2610200M23Rik, 2610021L12Rik, 5730488C10Rik
MMRRC Submission 044458-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6288 (G1)
Quality Score 86.0076
Status Validated
Chromosome 4
Chromosomal Location 106768667-106906891 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 106903277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030367] [ENSMUST00000072753] [ENSMUST00000097934]
AlphaFold Q9D032
Predicted Effect probably null
Transcript: ENSMUST00000030367
SMART Domains Protein: ENSMUSP00000030367
Gene: ENSMUSG00000061887

DomainStartEndE-ValueType
LisH 16 48 2.18e-3 SMART
Pfam:SSDP 81 365 8.2e-102 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000072753
SMART Domains Protein: ENSMUSP00000072536
Gene: ENSMUSG00000061887

DomainStartEndE-ValueType
LisH 16 48 2.18e-3 SMART
Pfam:SSDP 81 343 6.7e-112 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000097934
SMART Domains Protein: ENSMUSP00000095547
Gene: ENSMUSG00000061887

DomainStartEndE-ValueType
LisH 16 48 2.18e-3 SMART
Pfam:SSDP 81 151 6.3e-27 PFAM
Pfam:SSDP 148 350 8.4e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146659
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 97% (32/33)
MGI Phenotype FUNCTION: This gene encodes a member of the Ssdp (sequence-specific single-stranded DNA binding protein) family of proteins. The encoded protein binds specifically to single-stranded pyrimidine-rich DNA elements. The encoded protein has been shown to be important for head development and may play a role in the differentiation of spinal interneurons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Embryos homozygous for a gene trap mutation that deletes the proline-rich domain show a severe anterior truncation and a lethal headless phenotype (loss of fore- and midbrain). Embryos homozygous for a gene trap mutation which retains most of the proline-rich domain show normal head development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G T 11: 58,184,421 (GRCm39) D380Y probably damaging Het
4931406B18Rik T A 7: 43,147,549 (GRCm39) E274V probably damaging Het
Ankrd44 A G 1: 54,802,922 (GRCm39) L192P probably damaging Het
Apbb1 T A 7: 105,208,434 (GRCm39) I624F probably damaging Het
Asxl2 A G 12: 3,526,040 (GRCm39) K219E possibly damaging Het
Bean1 T A 8: 104,937,622 (GRCm39) L33Q probably damaging Het
Cdhr17 T A 5: 17,061,283 (GRCm39) C738S possibly damaging Het
Col22a1 T C 15: 71,766,718 (GRCm39) probably null Het
Col6a4 T C 9: 105,945,462 (GRCm39) D884G probably damaging Het
Crocc2 A G 1: 93,122,227 (GRCm39) R707G probably benign Het
Cts7 C T 13: 61,500,584 (GRCm39) G321E probably damaging Het
Cyp2d9 C T 15: 82,340,616 (GRCm39) H422Y probably damaging Het
Epha2 C T 4: 141,044,344 (GRCm39) A382V probably benign Het
Fam151a A C 4: 106,605,341 (GRCm39) T568P probably damaging Het
Fbln2 A T 6: 91,210,263 (GRCm39) Y69F probably damaging Het
Flg2 A T 3: 93,111,092 (GRCm39) H1040L unknown Het
Gucy2g T C 19: 55,215,945 (GRCm39) T476A probably benign Het
H3c7 A G 13: 23,728,664 (GRCm39) T4A probably benign Het
Ighv1-20 C T 12: 114,687,519 (GRCm39) G75D probably benign Het
Inpp5b G A 4: 124,679,020 (GRCm39) V476I probably benign Het
Nrxn2 T A 19: 6,540,591 (GRCm39) L855Q probably damaging Het
Or52ab2 A G 7: 102,970,286 (GRCm39) I223V probably damaging Het
Or8h7 A G 2: 86,721,226 (GRCm39) F98L probably benign Het
Pcolce2 T A 9: 95,563,646 (GRCm39) Y211N probably damaging Het
Phf21b A C 15: 84,739,272 (GRCm39) probably benign Het
Rbm8a2 T C 1: 175,806,111 (GRCm39) E122G probably benign Het
Rimbp3 C T 16: 17,030,772 (GRCm39) P1399S probably benign Het
Slc38a1 A G 15: 96,484,759 (GRCm39) V267A probably benign Het
Sox11 A G 12: 27,392,332 (GRCm39) F26L possibly damaging Het
Trim12c C T 7: 103,995,936 (GRCm39) V146I probably benign Het
Trrap C A 5: 144,748,802 (GRCm39) T1543K probably damaging Het
Zfp473 C A 7: 44,382,958 (GRCm39) K457N probably damaging Het
Other mutations in Ssbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Ssbp3 APN 4 106,894,855 (GRCm39) splice site probably benign
R0179:Ssbp3 UTSW 4 106,903,585 (GRCm39) missense probably damaging 1.00
R1751:Ssbp3 UTSW 4 106,904,612 (GRCm39) missense probably damaging 1.00
R1767:Ssbp3 UTSW 4 106,904,612 (GRCm39) missense probably damaging 1.00
R4110:Ssbp3 UTSW 4 106,904,393 (GRCm39) intron probably benign
R5219:Ssbp3 UTSW 4 106,904,655 (GRCm39) missense probably damaging 1.00
R5906:Ssbp3 UTSW 4 106,867,018 (GRCm39) intron probably benign
R7174:Ssbp3 UTSW 4 106,894,843 (GRCm39) missense probably benign 0.01
R9630:Ssbp3 UTSW 4 106,895,426 (GRCm39) missense probably damaging 1.00
R9781:Ssbp3 UTSW 4 106,905,224 (GRCm39) missense probably damaging 1.00
Z1176:Ssbp3 UTSW 4 106,894,828 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCAGGCTCTTGTTCCACTC -3'
(R):5'- TGCTTCCCAAATGCCTTCAAAG -3'

Sequencing Primer
(F):5'- ACGCAGTGACAAGTTTGAATC -3'
(R):5'- GTGCAGACTTAAGCACTG -3'
Posted On 2018-07-23