Incidental Mutation 'R5219:Ssbp3'
ID 402198
Institutional Source Beutler Lab
Gene Symbol Ssbp3
Ensembl Gene ENSMUSG00000061887
Gene Name single-stranded DNA binding protein 3
Synonyms 2610200M23Rik, 2610021L12Rik, 5730488C10Rik
MMRRC Submission 042792-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5219 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 106768667-106906891 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106904655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 350 (N350I)
Ref Sequence ENSEMBL: ENSMUSP00000072536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030367] [ENSMUST00000072753] [ENSMUST00000097934]
AlphaFold Q9D032
Predicted Effect probably damaging
Transcript: ENSMUST00000030367
AA Change: N377I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030367
Gene: ENSMUSG00000061887
AA Change: N377I

DomainStartEndE-ValueType
LisH 16 48 2.18e-3 SMART
Pfam:SSDP 81 365 8.2e-102 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000072753
AA Change: N350I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072536
Gene: ENSMUSG00000061887
AA Change: N350I

DomainStartEndE-ValueType
LisH 16 48 2.18e-3 SMART
Pfam:SSDP 81 343 6.7e-112 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097934
AA Change: N357I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095547
Gene: ENSMUSG00000061887
AA Change: N357I

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 0.0752 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (68/70)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700063H04Rik A G 6: 122,369,299 (GRCm39) noncoding transcript Het
4933428M09Rik G T X: 138,080,282 (GRCm39) G16* probably null Het
A2m A G 6: 121,653,909 (GRCm39) H1414R possibly damaging Het
A530064D06Rik G T 17: 48,470,518 (GRCm39) D154E possibly damaging Het
Adam34 C T 8: 44,104,461 (GRCm39) D395N probably benign Het
Agl A G 3: 116,572,370 (GRCm39) V195A possibly damaging Het
Aip T C 19: 4,165,180 (GRCm39) I230V probably benign Het
Akap10 A C 11: 61,813,617 (GRCm39) S43A probably benign Het
Ap3d1 T C 10: 80,545,651 (GRCm39) E1026G probably benign Het
Arid5b T A 10: 68,113,940 (GRCm39) K32N probably benign Het
Atp6v0a2 C A 5: 124,790,249 (GRCm39) N477K probably damaging Het
Atr A C 9: 95,763,291 (GRCm39) I1062L probably damaging Het
Ces2h T C 8: 105,743,278 (GRCm39) V171A probably damaging Het
Cnot2 A G 10: 116,342,215 (GRCm39) probably null Het
Cpne3 A T 4: 19,526,366 (GRCm39) L391H probably damaging Het
Ctdp1 A G 18: 80,490,675 (GRCm39) L715P probably damaging Het
Dcxr T C 11: 120,616,314 (GRCm39) probably benign Het
Dhtkd1 C T 2: 5,919,627 (GRCm39) A585T probably benign Het
Elapor2 G T 5: 9,511,486 (GRCm39) W949C probably damaging Het
Fcgbp G A 7: 27,803,510 (GRCm39) A1705T probably damaging Het
Galr1 A T 18: 82,412,110 (GRCm39) V252D probably damaging Het
Gm11677 A G 11: 111,616,225 (GRCm39) noncoding transcript Het
Gp6 A G 7: 4,371,998 (GRCm39) V252A possibly damaging Het
Inpp4b T C 8: 82,610,785 (GRCm39) V176A probably benign Het
Irx2 G C 13: 72,779,420 (GRCm39) A235P probably damaging Het
Klk1b11 G A 7: 43,649,120 (GRCm39) C219Y probably damaging Het
Lamc1 C A 1: 153,103,442 (GRCm39) V1375L probably damaging Het
Lars1 A T 18: 42,367,785 (GRCm39) V431E probably benign Het
Lmntd2 T C 7: 140,791,387 (GRCm39) probably null Het
Ltbp4 A T 7: 27,026,746 (GRCm39) W500R probably benign Het
Ltbp4 AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC AATTCAGGCCTAGGCTGGGATTCAGGC 7: 27,026,736 (GRCm39) probably benign Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Nadk A G 4: 155,668,711 (GRCm39) I127M probably benign Het
Nxph1 T A 6: 9,247,765 (GRCm39) Y245* probably null Het
Or4a73 C T 2: 89,421,046 (GRCm39) V138I probably benign Het
Or7s1a-ps1 T C 9: 18,843,990 (GRCm39) probably benign Het
Or8g34 G T 9: 39,373,563 (GRCm39) V276L probably benign Het
Or9k7 T A 10: 130,046,793 (GRCm39) T69S possibly damaging Het
Orc1 T C 4: 108,447,966 (GRCm39) F71S probably damaging Het
Pccb A T 9: 100,867,262 (GRCm39) Y404* probably null Het
Pde2a A C 7: 101,153,811 (GRCm39) I460L probably damaging Het
Ppp3cb G T 14: 20,578,263 (GRCm39) C162* probably null Het
Prickle2 T C 6: 92,353,511 (GRCm39) S652G probably benign Het
Prss38 A G 11: 59,266,309 (GRCm39) probably benign Het
Rcor3 T A 1: 191,821,813 (GRCm39) probably benign Het
Rgp1 C T 4: 43,579,440 (GRCm39) A16V probably damaging Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Scnn1g T A 7: 121,365,489 (GRCm39) Y514N probably damaging Het
Sephs1 A G 2: 4,896,501 (GRCm39) D134G probably benign Het
Slc38a3 A G 9: 107,529,111 (GRCm39) probably benign Het
Slc6a1 A T 6: 114,287,182 (GRCm39) M388L probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Sult1e1 A T 5: 87,726,445 (GRCm39) I223N probably damaging Het
Tcf20 C A 15: 82,740,582 (GRCm39) G290C probably damaging Het
Tekt2 G T 4: 126,216,057 (GRCm39) T412K possibly damaging Het
Trabd2b A G 4: 114,460,007 (GRCm39) T382A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubr4 C A 4: 139,204,543 (GRCm39) Y4818* probably null Het
Vmn1r204 A T 13: 22,741,069 (GRCm39) R233S probably damaging Het
Vmn1r86 A G 7: 12,836,382 (GRCm39) Y165H probably damaging Het
Yaf2 A C 15: 93,183,355 (GRCm39) C152G probably benign Het
Zfp804b A T 5: 6,820,703 (GRCm39) F751I probably benign 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
R5906:Ssbp3 UTSW 4 106,867,018 (GRCm39) intron probably benign
R6288:Ssbp3 UTSW 4 106,903,277 (GRCm39) splice site probably null
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'- TGGACTTCCAAAAGTGAGTGG -3'
(R):5'- ATGCCTCAACTCAATCCAGG -3'

Sequencing Primer
(F):5'- TGAGTGGCACTTGATGTCCCC -3'
(R):5'- GGACTCCCACTCCACACAGTG -3'
Posted On 2016-07-22