Incidental Mutation 'R8279:Ssbp4'
ID 638118
Institutional Source Beutler Lab
Gene Symbol Ssbp4
Ensembl Gene ENSMUSG00000070003
Gene Name single stranded DNA binding protein 4
Synonyms Ssdp4, 1210002E11Rik
MMRRC Submission 067702-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.365) question?
Stock # R8279 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 71050135-71061084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71054955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 68 (D68G)
Ref Sequence ENSEMBL: ENSMUSP00000059039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049908] [ENSMUST00000210369] [ENSMUST00000210580] [ENSMUST00000211197] [ENSMUST00000211608]
AlphaFold Q3U4B1
Predicted Effect probably damaging
Transcript: ENSMUST00000049908
AA Change: D68G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059039
Gene: ENSMUSG00000070003
AA Change: D68G

DomainStartEndE-ValueType
LisH 16 48 2.18e-3 SMART
Pfam:SSDP 81 123 6.7e-15 PFAM
Pfam:SSDP 121 338 1.3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210369
Predicted Effect probably damaging
Transcript: ENSMUST00000210580
AA Change: D68G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000211197
AA Change: T57A
Predicted Effect probably damaging
Transcript: ENSMUST00000211608
AA Change: D68G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,069,549 (GRCm39) N1282S probably benign Het
Als2cl A G 9: 110,723,653 (GRCm39) H683R probably damaging Het
Ank2 C T 3: 126,726,820 (GRCm39) D825N probably benign Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
Axl C T 7: 25,463,379 (GRCm39) D633N probably benign Het
C3 A G 17: 57,522,809 (GRCm39) V1025A probably benign Het
Cc2d2a T C 5: 43,893,487 (GRCm39) S1489P probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cdk14 G A 5: 5,316,125 (GRCm39) probably benign Het
Clpb T C 7: 101,355,695 (GRCm39) V183A possibly damaging Het
Cpa3 C T 3: 20,277,478 (GRCm39) M232I possibly damaging Het
Cyp2j7 A G 4: 96,116,796 (GRCm39) probably null Het
Dnah2 A G 11: 69,366,399 (GRCm39) I1907T probably damaging Het
Efemp1 T C 11: 28,871,795 (GRCm39) F437L possibly damaging Het
Fat1 T A 8: 45,483,384 (GRCm39) probably null Het
Fry A T 5: 150,419,726 (GRCm39) T599S Het
Gm10142 T A 10: 77,552,001 (GRCm39) *121R probably null Het
Kcng3 A C 17: 83,895,254 (GRCm39) F404C probably damaging Het
Mefv T G 16: 3,533,086 (GRCm39) H395P unknown Het
Mrc1 T A 2: 14,271,168 (GRCm39) D357E possibly damaging Het
Muc15 A G 2: 110,562,052 (GRCm39) T163A probably benign Het
Ncdn T C 4: 126,644,199 (GRCm39) T208A probably benign Het
Or2q1 A T 6: 42,794,557 (GRCm39) I51F probably damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pdpk1 A G 17: 24,307,147 (GRCm39) S395P probably benign Het
Slc27a6 T C 18: 58,705,251 (GRCm39) V211A probably benign Het
Slco3a1 T C 7: 73,934,144 (GRCm39) D676G possibly damaging Het
Slfn4 T G 11: 83,077,482 (GRCm39) M90R possibly damaging Het
Sval3 A G 6: 41,949,371 (GRCm39) T70A possibly damaging Het
Taf1c C T 8: 120,325,750 (GRCm39) R704Q probably benign Het
Tex15 T A 8: 34,061,765 (GRCm39) D398E probably damaging Het
Tmprss3 A T 17: 31,416,709 (GRCm39) V9E probably benign Het
Vps35l T A 7: 118,345,722 (GRCm39) M109K probably benign Het
Other mutations in Ssbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0552:Ssbp4 UTSW 8 71,052,509 (GRCm39) missense probably benign
R1771:Ssbp4 UTSW 8 71,051,502 (GRCm39) critical splice donor site probably null
R4065:Ssbp4 UTSW 8 71,052,210 (GRCm39) missense possibly damaging 0.93
R6982:Ssbp4 UTSW 8 71,060,815 (GRCm39) missense possibly damaging 0.66
R7407:Ssbp4 UTSW 8 71,051,672 (GRCm39) missense probably damaging 1.00
R7409:Ssbp4 UTSW 8 71,050,617 (GRCm39) missense unknown
R8077:Ssbp4 UTSW 8 71,051,647 (GRCm39) missense probably damaging 1.00
R8360:Ssbp4 UTSW 8 71,052,039 (GRCm39) missense probably benign 0.03
R8976:Ssbp4 UTSW 8 71,052,336 (GRCm39) critical splice donor site probably null
R9213:Ssbp4 UTSW 8 71,052,395 (GRCm39) missense probably benign 0.01
Z1088:Ssbp4 UTSW 8 71,052,485 (GRCm39) intron probably benign
Z1176:Ssbp4 UTSW 8 71,052,485 (GRCm39) intron probably benign
Z1177:Ssbp4 UTSW 8 71,052,485 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- AGCCCACTGTACCAAAAGG -3'
(R):5'- CTGACTCTCTTTCATAGATCCGT -3'

Sequencing Primer
(F):5'- TGGTGACACAGATTTGACCC -3'
(R):5'- TCCGTTGGGAAAAGAACATCACATTG -3'
Posted On 2020-07-28