Incidental Mutation 'IGL02656:Ssbp2'
ID 302357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ssbp2
Ensembl Gene ENSMUSG00000003992
Gene Name single-stranded DNA binding protein 2
Synonyms Hspc116, 1500004K09Rik, 2310079I02Rik, 9330163K02Rik, A830008M03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02656
Quality Score
Status
Chromosome 13
Chromosomal Location 91460283-91703429 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 91669752 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004094] [ENSMUST00000042122] [ENSMUST00000231481]
AlphaFold Q9CYZ8
Predicted Effect probably benign
Transcript: ENSMUST00000004094
SMART Domains Protein: ENSMUSP00000004094
Gene: ENSMUSG00000003992

DomainStartEndE-ValueType
LisH 18 50 2.18e-3 SMART
Pfam:SSDP 83 125 5.9e-19 PFAM
Pfam:SSDP 123 338 5.3e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042122
SMART Domains Protein: ENSMUSP00000037115
Gene: ENSMUSG00000003992

DomainStartEndE-ValueType
LisH 18 50 2.18e-3 SMART
Pfam:SSDP 94 313 2.7e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156547
Predicted Effect probably benign
Transcript: ENSMUST00000231481
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a protein complex that interacts with single-stranded DNA and is involved in the DNA damage response and maintenance of genome stability. The encoded protein may also play a role in telomere repair. A variant of this gene may be associated with survival in human glioblastoma patients. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice exhibit some perinatal lethality and premature death associated with increased incidence of lymphoma and carcinoma. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 G T 14: 31,702,240 A981D possibly damaging Het
Ccdc69 G T 11: 55,052,437 Q114K possibly damaging Het
Cct5 A T 15: 31,597,430 D66E probably damaging Het
Ces2e G T 8: 104,927,056 R42I possibly damaging Het
Cib2 T G 9: 54,545,898 D178A probably damaging Het
Cldn7 G A 11: 69,967,008 V97I probably benign Het
Dok3 A T 13: 55,528,480 I12N probably damaging Het
Fndc5 T A 4: 129,139,446 V102E probably damaging Het
Gas2 T C 7: 51,943,744 S191P probably benign Het
Herc6 T A 6: 57,611,836 probably null Het
Krt18 A G 15: 102,030,922 T277A probably benign Het
Mpp3 A G 11: 102,008,601 S365P probably benign Het
Msmo1 T C 8: 64,727,872 T3A probably benign Het
Olfr1509 G T 14: 52,450,709 A99S possibly damaging Het
Olfr1537 T A 9: 39,238,160 E88V probably benign Het
Olfr394 A G 11: 73,888,039 F111S probably damaging Het
Pex19 C A 1: 172,130,685 A77E probably benign Het
Phf20l1 A G 15: 66,629,827 D620G probably damaging Het
Prr5 A G 15: 84,699,136 D105G probably damaging Het
Rab12 T A 17: 66,506,054 K88M probably damaging Het
Rictor T C 15: 6,776,920 V673A probably damaging Het
Rps26 A G 10: 128,625,257 S88P possibly damaging Het
Sema5a T A 15: 32,631,285 S605T possibly damaging Het
Slc35a4 T C 18: 36,682,447 M110T probably damaging Het
Sowahb T C 5: 93,043,247 S538G probably benign Het
Srrt T A 5: 137,299,676 probably benign Het
Supt20 C T 3: 54,708,395 R236W probably damaging Het
Tenm4 A G 7: 96,885,433 D1791G probably damaging Het
Tgm6 G A 2: 130,145,103 G497D probably damaging Het
Trim12c C T 7: 104,341,203 V356I probably damaging Het
Vwce T A 19: 10,664,352 I814K probably benign Het
Other mutations in Ssbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02962:Ssbp2 APN 13 91642371 missense possibly damaging 0.84
IGL03201:Ssbp2 APN 13 91524601 missense probably damaging 1.00
R0190:Ssbp2 UTSW 13 91669710 missense probably damaging 1.00
R0277:Ssbp2 UTSW 13 91564596 splice site probably benign
R0329:Ssbp2 UTSW 13 91680579 splice site probably null
R0330:Ssbp2 UTSW 13 91680579 splice site probably null
R1551:Ssbp2 UTSW 13 91642392 critical splice donor site probably null
R1846:Ssbp2 UTSW 13 91664149 missense probably damaging 1.00
R1957:Ssbp2 UTSW 13 91664184 splice site probably benign
R3732:Ssbp2 UTSW 13 91524607 missense probably damaging 1.00
R3744:Ssbp2 UTSW 13 91680646 splice site probably benign
R4469:Ssbp2 UTSW 13 91694056 missense probably damaging 1.00
R4665:Ssbp2 UTSW 13 91539335 missense possibly damaging 0.48
R4724:Ssbp2 UTSW 13 91688814 missense possibly damaging 0.70
R5477:Ssbp2 UTSW 13 91664125 missense probably damaging 0.98
R6015:Ssbp2 UTSW 13 91669743 critical splice donor site probably null
R6332:Ssbp2 UTSW 13 91690908 missense probably benign 0.01
R6523:Ssbp2 UTSW 13 91693051 missense probably benign 0.09
R6548:Ssbp2 UTSW 13 91539351 missense possibly damaging 0.91
R6655:Ssbp2 UTSW 13 91664149 missense probably damaging 1.00
R7227:Ssbp2 UTSW 13 91675125 missense probably benign 0.00
R7295:Ssbp2 UTSW 13 91694003 splice site probably null
R7401:Ssbp2 UTSW 13 91690883 missense probably benign 0.43
R7488:Ssbp2 UTSW 13 91675090 missense probably damaging 0.99
R7823:Ssbp2 UTSW 13 91642329 missense possibly damaging 0.95
R8884:Ssbp2 UTSW 13 91688870 splice site probably benign
R9147:Ssbp2 UTSW 13 91694022 missense probably damaging 1.00
R9148:Ssbp2 UTSW 13 91694022 missense probably damaging 1.00
R9182:Ssbp2 UTSW 13 91700681 missense probably damaging 0.97
R9255:Ssbp2 UTSW 13 91670406 missense possibly damaging 0.93
R9449:Ssbp2 UTSW 13 91675038 missense probably benign 0.02
X0026:Ssbp2 UTSW 13 91669688 missense possibly damaging 0.70
Posted On 2015-04-16