Incidental Mutation 'R7407:Ssbp4'
ID 574795
Institutional Source Beutler Lab
Gene Symbol Ssbp4
Ensembl Gene ENSMUSG00000070003
Gene Name single stranded DNA binding protein 4
Synonyms Ssdp4, 1210002E11Rik
MMRRC Submission 045488-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.365) question?
Stock # R7407 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 71050135-71061084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71051672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 231 (Y231H)
Ref Sequence ENSEMBL: ENSMUSP00000059039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019283] [ENSMUST00000049908] [ENSMUST00000209285] [ENSMUST00000210005] [ENSMUST00000210369] [ENSMUST00000210580] [ENSMUST00000211117] [ENSMUST00000211197] [ENSMUST00000211608]
AlphaFold Q3U4B1
Predicted Effect probably benign
Transcript: ENSMUST00000019283
SMART Domains Protein: ENSMUSP00000019283
Gene: ENSMUSG00000019139

DomainStartEndE-ValueType
low complexity region 44 54 N/A INTRINSIC
Pfam:NAD_binding_5 59 491 4.4e-141 PFAM
Pfam:Inos-1-P_synth 307 420 6.3e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000049908
AA Change: Y231H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059039
Gene: ENSMUSG00000070003
AA Change: Y231H

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: ENSMUST00000209285
Predicted Effect probably benign
Transcript: ENSMUST00000210005
Predicted Effect probably damaging
Transcript: ENSMUST00000210369
AA Change: Y130H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210580
Predicted Effect probably benign
Transcript: ENSMUST00000211117
Predicted Effect probably benign
Transcript: ENSMUST00000211197
Predicted Effect probably benign
Transcript: ENSMUST00000211501
Predicted Effect probably benign
Transcript: ENSMUST00000211608
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik A G 7: 50,249,626 (GRCm39) N220S probably damaging Het
Abcb8 T C 5: 24,605,674 (GRCm39) V186A probably benign Het
Actbl2 A T 13: 111,392,752 (GRCm39) E362D probably damaging Het
Adamts17 C A 7: 66,697,304 (GRCm39) Y28* probably null Het
Agtr1b T C 3: 20,369,895 (GRCm39) D237G possibly damaging Het
Amer2 A G 14: 60,616,291 (GRCm39) D162G probably damaging Het
Ankub1 T C 3: 57,572,624 (GRCm39) E366G probably benign Het
Ap5z1 A G 5: 142,452,330 (GRCm39) I88V probably benign Het
Ccdc186 T C 19: 56,801,817 (GRCm39) N100S probably benign Het
Cldn19 A G 4: 119,112,882 (GRCm39) D38G probably damaging Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Deaf1 G A 7: 140,877,492 (GRCm39) A545V possibly damaging Het
Dicer1 G T 12: 104,688,610 (GRCm39) Y322* probably null Het
Dnajb7 G T 15: 81,291,827 (GRCm39) T170K possibly damaging Het
Flrt2 A T 12: 95,746,074 (GRCm39) E137D probably damaging Het
Galnt12 T C 4: 47,120,362 (GRCm39) F482L probably damaging Het
Gm32742 A G 9: 51,067,974 (GRCm39) V336A probably damaging Het
Gpatch8 G A 11: 102,370,656 (GRCm39) R961W unknown Het
Hcn4 A G 9: 58,766,653 (GRCm39) E738G unknown Het
Kdelr3 A G 15: 79,409,039 (GRCm39) Y76C probably damaging Het
Krt77 T C 15: 101,768,530 (GRCm39) S494G unknown Het
Letmd1 G T 15: 100,367,119 (GRCm39) A39S probably benign Het
Lrrc7 G A 3: 157,840,878 (GRCm39) R1387W probably damaging Het
Meltf T C 16: 31,713,553 (GRCm39) Y599H probably damaging Het
Mybpc1 T A 10: 88,385,209 (GRCm39) I477L probably damaging Het
Nf1 A G 11: 79,338,969 (GRCm39) D1174G probably damaging Het
Or2t6 T A 14: 14,175,402 (GRCm38) I227L probably benign Het
Or8b44 T A 9: 38,410,800 (GRCm39) Y278* probably null Het
Palld G T 8: 61,968,975 (GRCm39) S1283* probably null Het
Pcmtd2 T C 2: 181,488,398 (GRCm39) V183A possibly damaging Het
Pcsk5 T A 19: 17,652,880 (GRCm39) I269F probably damaging Het
Pkd1 T C 17: 24,813,568 (GRCm39) L4036P probably damaging Het
Pkhd1l1 A G 15: 44,458,407 (GRCm39) N4151S possibly damaging Het
Rcor3 C T 1: 191,785,972 (GRCm39) S422N probably benign Het
Rhag A G 17: 41,142,225 (GRCm39) I223V possibly damaging Het
Syce1l C T 8: 114,381,770 (GRCm39) Q237* probably null Het
Tenm4 T C 7: 96,423,194 (GRCm39) V663A possibly damaging Het
Timd6 A G 11: 46,468,217 (GRCm39) Y97C probably damaging Het
Trim6 T C 7: 103,875,108 (GRCm39) I115T probably damaging Het
Vinac1 A G 2: 128,880,729 (GRCm39) I399T Het
Vmn1r25 T A 6: 57,956,044 (GRCm39) T82S possibly damaging Het
Vmn2r28 A G 7: 5,484,308 (GRCm39) S631P probably damaging Het
Xpo1 T A 11: 23,235,823 (GRCm39) V637E probably damaging Het
Xpo6 A T 7: 125,770,224 (GRCm39) M62K probably damaging Het
Ypel5 A G 17: 73,153,374 (GRCm39) N26S possibly damaging Het
Zbtb24 C A 10: 41,340,775 (GRCm39) Q624K possibly damaging Het
Zfp629 T C 7: 127,209,415 (GRCm39) D798G probably benign Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H probably damaging 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
R7409:Ssbp4 UTSW 8 71,050,617 (GRCm39) missense unknown
R8077:Ssbp4 UTSW 8 71,051,647 (GRCm39) missense probably damaging 1.00
R8279:Ssbp4 UTSW 8 71,054,955 (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'- GTGCATGAAATGGAGACCCC -3'
(R):5'- ACTTAGCTCTGGGGAATGATGG -3'

Sequencing Primer
(F):5'- ATGAAATGGAGACCCCGGCTC -3'
(R):5'- CAGACTGCTTGGTCTACTGCAG -3'
Posted On 2019-10-07