Incidental Mutation 'R7401:Ssbp2'
ID 574191
Institutional Source Beutler Lab
Gene Symbol Ssbp2
Ensembl Gene ENSMUSG00000003992
Gene Name single-stranded DNA binding protein 2
Synonyms Hspc116, 1500004K09Rik, 2310079I02Rik, 9330163K02Rik, A830008M03Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7401 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 91460283-91703429 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91690883 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 291 (D291E)
Ref Sequence ENSEMBL: ENSMUSP00000004094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004094] [ENSMUST00000042122]
AlphaFold Q9CYZ8
Predicted Effect probably benign
Transcript: ENSMUST00000004094
AA Change: D291E

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000004094
Gene: ENSMUSG00000003992
AA Change: D291E

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 possibly damaging
Transcript: ENSMUST00000042122
AA Change: D261E

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000037115
Gene: ENSMUSG00000003992
AA Change: D261E

DomainStartEndE-ValueType
LisH 18 50 2.18e-3 SMART
Pfam:SSDP 94 313 2.7e-102 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A T 16: 17,118,404 L152Q probably benign Het
Abcg3 A T 5: 104,966,774 N292K probably damaging Het
Adamts3 T A 5: 89,707,450 probably null Het
Adgrg7 T C 16: 56,742,418 N519D probably benign Het
Adsl A G 15: 80,962,782 H263R probably damaging Het
Ak9 A T 10: 41,423,004 D1567V unknown Het
Bscl2 T C 19: 8,846,550 F280L possibly damaging Het
Cacna1b T A 2: 24,679,294 T873S probably benign Het
Cacna1c T C 6: 119,052,708 probably null Het
Cast G T 13: 74,808,458 A18E unknown Het
Ccdc114 A C 7: 45,942,765 Q323P probably damaging Het
Cd207 A C 6: 83,677,848 probably benign Het
Cd79b A G 11: 106,312,852 S130P probably benign Het
Cfap52 A T 11: 67,949,633 N157K probably benign Het
Cfap57 C T 4: 118,614,931 V84I probably benign Het
Chaf1b G T 16: 93,884,380 probably benign Het
Cntn1 A G 15: 92,317,989 I968V probably benign Het
Cntn5 C T 9: 9,833,461 V362I probably benign Het
Crem A G 18: 3,295,329 S80P probably damaging Het
Csnk1g3 C T 18: 53,930,318 T267I probably damaging Het
Cyth1 A T 11: 118,182,251 N274K possibly damaging Het
Dicer1 C T 12: 104,712,278 G594S probably benign Het
Enpp1 C T 10: 24,645,282 C849Y probably damaging Het
Fam193a A G 5: 34,465,635 E1189G possibly damaging Het
Fermt1 C A 2: 132,917,559 V426L probably benign Het
Fes A G 7: 80,378,776 probably null Het
Gm16486 T C 8: 70,717,272 I1337T probably benign Het
Gmeb1 C A 4: 132,225,774 L560F probably damaging Het
Hace1 T C 10: 45,670,626 L452P probably damaging Het
Hecw2 T A 1: 53,904,343 H975L probably damaging Het
Idh2 GGTCCCAG GG 7: 80,098,329 probably benign Het
Il1r2 T A 1: 40,123,210 C338S probably damaging Het
Kcnb1 T C 2: 167,188,284 S114G probably damaging Het
Lce1c A T 3: 92,680,316 T17S unknown Het
Lhfpl4 C A 6: 113,176,666 L141F possibly damaging Het
Ms4a14 T C 19: 11,302,230 E988G possibly damaging Het
Naip5 T C 13: 100,219,696 Q1137R probably benign Het
Naip5 G T 13: 100,219,697 Q1137K not run Het
Neurod1 T A 2: 79,454,946 D31V probably benign Het
Neurod4 A G 10: 130,271,058 C116R probably damaging Het
Nisch A G 14: 31,206,580 V28A probably benign Het
Olfr1174-ps T G 2: 88,311,428 M123L probably benign Het
Olfr1245 A G 2: 89,575,105 V207A probably benign Het
Pabpc4l A T 3: 46,446,252 I319N probably damaging Het
Pabpc4l T A 3: 46,446,589 R207W probably damaging Het
Pcm1 G A 8: 41,309,531 D1371N probably damaging Het
Peg10 G GGTC 6: 4,756,452 probably benign Het
Plxnc1 C T 10: 94,871,005 A557T probably benign Het
Prkdc T A 16: 15,648,738 V58D probably damaging Het
Prpf40a A G 2: 53,156,947 V259A probably benign Het
Psmd3 A T 11: 98,685,640 T123S probably benign Het
Ptgr2 G T 12: 84,292,329 probably benign Het
Ptprr A G 10: 116,048,236 H66R probably benign Het
Rftn2 A G 1: 55,194,242 probably null Het
Rsph14 T A 10: 75,029,796 E70V possibly damaging Het
Slc24a5 G A 2: 125,088,191 V471I probably benign Het
Sorbs1 G C 19: 40,376,800 R180G probably benign Het
Spag9 A T 11: 94,097,689 T862S probably benign Het
Supt5 T C 7: 28,323,772 K329E probably damaging Het
Syne2 G T 12: 75,967,381 K3115N probably damaging Het
Tars A T 15: 11,392,009 L239* probably null Het
Tbxa2r T C 10: 81,332,791 Y105H probably benign Het
Tesk1 T A 4: 43,445,743 D265E probably damaging Het
Tril T C 6: 53,818,281 D652G possibly damaging Het
Tsga10 T C 1: 37,834,187 R204G probably null Het
Twnk A G 19: 45,011,780 D645G probably benign Het
Umodl1 A T 17: 30,998,148 D1118V probably damaging Het
Unc119 T C 11: 78,347,245 I83T probably benign Het
Unc80 T C 1: 66,646,415 W2233R possibly damaging Het
Vmn1r45 T A 6: 89,933,434 T185S possibly damaging Het
Vmn2r111 G T 17: 22,571,086 T313K possibly damaging Het
Wdr4 A G 17: 31,509,832 L123S probably damaging Het
Zfpm2 A G 15: 41,102,990 E957G possibly damaging Het
Other mutations in Ssbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02656:Ssbp2 APN 13 91669752 splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AGCCTTAGCATCCAGAACAGAG -3'
(R):5'- GATACTCATGGGGCCAAACTCC -3'

Sequencing Primer
(F):5'- CCTTAGCATCCAGAACAGAGATGAG -3'
(R):5'- ACACTCCTGATTCAAATGTTCTCCAG -3'
Posted On 2019-09-13