Incidental Mutation 'R2316:Sobp'
ID 245499
Institutional Source Beutler Lab
Gene Symbol Sobp
Ensembl Gene ENSMUSG00000038248
Gene Name sine oculis binding protein
Synonyms 5330439J01Rik, 2900009C16Rik, jc, Jxc1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.682) question?
Stock # R2316 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 42878496-43050526 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43034034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 97 (N97K)
Ref Sequence ENSEMBL: ENSMUSP00000040072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040275]
AlphaFold Q0P5V2
Predicted Effect possibly damaging
Transcript: ENSMUST00000040275
AA Change: N97K

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040072
Gene: ENSMUSG00000038248
AA Change: N97K

DomainStartEndE-ValueType
low complexity region 125 139 N/A INTRINSIC
internal_repeat_1 149 201 2.34e-5 PROSPERO
Pfam:SOBP 224 543 1.5e-88 PFAM
low complexity region 565 583 N/A INTRINSIC
low complexity region 590 603 N/A INTRINSIC
low complexity region 625 639 N/A INTRINSIC
low complexity region 695 714 N/A INTRINSIC
low complexity region 725 747 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187332
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous mutant mice exhibit open-field hyperactivity and circling behavior from weaning. Their hearing thresholds are elevated at all frequencies; the hearing impairment does not progress over time. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563I02Rik A G 14: 60,333,519 (GRCm39) probably benign Het
Acaca T C 11: 84,154,906 (GRCm39) M987T probably benign Het
Acaca A G 11: 84,185,809 (GRCm39) T115A possibly damaging Het
Aknad1 A T 3: 108,688,472 (GRCm39) D600V probably damaging Het
Arfgef3 T A 10: 18,492,701 (GRCm39) T1237S probably benign Het
Brd4 A T 17: 32,431,884 (GRCm39) L660Q probably benign Het
Casp1 A G 9: 5,306,213 (GRCm39) D366G possibly damaging Het
Casp8ap2 C A 4: 32,643,781 (GRCm39) S951R probably benign Het
Chd9 A G 8: 91,777,756 (GRCm39) E2589G probably damaging Het
Dchs1 T C 7: 105,413,411 (GRCm39) T1135A possibly damaging Het
Dnhd1 T C 7: 105,323,628 (GRCm39) V633A probably damaging Het
Dock6 G T 9: 21,750,973 (GRCm39) H400Q probably damaging Het
Dzip1 A G 14: 119,138,952 (GRCm39) F426L probably benign Het
Elovl4 A G 9: 83,662,826 (GRCm39) S236P probably damaging Het
Emp1 T C 6: 135,357,123 (GRCm39) F67S probably damaging Het
Garnl3 A G 2: 32,895,164 (GRCm39) L635P probably damaging Het
Htr7 C A 19: 35,946,703 (GRCm39) probably null Het
Kcnd3 A C 3: 105,576,442 (GRCm39) S629R probably benign Het
Lrp2 T A 2: 69,322,191 (GRCm39) I1913F possibly damaging Het
Med19 T A 2: 84,516,587 (GRCm39) D208E probably benign Het
Mettl21c A T 1: 44,052,792 (GRCm39) V75E probably damaging Het
Nhsl3 T C 4: 129,117,540 (GRCm39) T375A probably damaging Het
Nsd1 A T 13: 55,381,779 (GRCm39) R64S probably damaging Het
Or10g3b A G 14: 52,587,395 (GRCm39) I36T probably benign Het
Or51v8 A T 7: 103,319,674 (GRCm39) I188N probably damaging Het
Or5p50 T A 7: 107,422,007 (GRCm39) Y223F probably benign Het
Peds1 T A 2: 167,496,635 (GRCm39) Q46L possibly damaging Het
Plat T A 8: 23,266,881 (GRCm39) M291K probably benign Het
Psmb4 T C 3: 94,792,322 (GRCm39) E200G probably benign Het
Reln T C 5: 22,359,954 (GRCm39) Y190C probably benign Het
Rp1 A G 1: 4,415,863 (GRCm39) S1750P probably damaging Het
Slc5a4a T A 10: 76,013,915 (GRCm39) probably null Het
Stac3 T C 10: 127,339,229 (GRCm39) probably null Het
Stat5b G T 11: 100,687,318 (GRCm39) T436K probably damaging Het
Tas1r3 A T 4: 155,947,772 (GRCm39) M7K probably benign Het
Vps13b C T 15: 35,675,045 (GRCm39) Q1722* probably null Het
Zfp677 A T 17: 21,617,582 (GRCm39) Y213F probably benign Het
Other mutations in Sobp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Sobp APN 10 42,898,874 (GRCm39) missense probably damaging 1.00
IGL02112:Sobp APN 10 42,897,873 (GRCm39) missense probably benign 0.07
R0071:Sobp UTSW 10 43,033,993 (GRCm39) missense probably damaging 1.00
R0071:Sobp UTSW 10 43,033,993 (GRCm39) missense probably damaging 1.00
R0602:Sobp UTSW 10 42,898,385 (GRCm39) missense probably damaging 1.00
R0792:Sobp UTSW 10 42,898,689 (GRCm39) missense probably damaging 0.99
R0847:Sobp UTSW 10 42,898,415 (GRCm39) missense probably damaging 1.00
R0948:Sobp UTSW 10 42,898,205 (GRCm39) missense probably damaging 1.00
R1298:Sobp UTSW 10 42,898,331 (GRCm39) missense probably damaging 1.00
R1484:Sobp UTSW 10 43,036,827 (GRCm39) missense probably damaging 1.00
R1486:Sobp UTSW 10 42,898,518 (GRCm39) missense probably benign 0.42
R1543:Sobp UTSW 10 42,897,720 (GRCm39) missense probably damaging 0.97
R1571:Sobp UTSW 10 43,033,942 (GRCm39) missense possibly damaging 0.93
R1807:Sobp UTSW 10 43,036,822 (GRCm39) missense possibly damaging 0.79
R2198:Sobp UTSW 10 42,898,520 (GRCm39) missense possibly damaging 0.81
R4165:Sobp UTSW 10 42,897,644 (GRCm39) missense probably damaging 1.00
R4235:Sobp UTSW 10 42,898,896 (GRCm39) missense probably damaging 1.00
R4378:Sobp UTSW 10 42,897,300 (GRCm39) missense probably damaging 0.97
R4587:Sobp UTSW 10 43,034,020 (GRCm39) missense probably damaging 1.00
R5108:Sobp UTSW 10 43,036,815 (GRCm39) missense probably damaging 1.00
R6165:Sobp UTSW 10 42,898,599 (GRCm39) missense probably damaging 1.00
R7069:Sobp UTSW 10 42,897,436 (GRCm39) missense probably benign 0.37
R7346:Sobp UTSW 10 42,898,831 (GRCm39) missense probably damaging 1.00
R7419:Sobp UTSW 10 42,897,804 (GRCm39) missense probably benign 0.00
R7423:Sobp UTSW 10 42,898,564 (GRCm39) nonsense probably null
R7475:Sobp UTSW 10 42,897,830 (GRCm39) missense probably damaging 0.98
R7994:Sobp UTSW 10 42,897,163 (GRCm39) nonsense probably null
R8472:Sobp UTSW 10 42,898,392 (GRCm39) missense probably damaging 0.99
R8558:Sobp UTSW 10 43,003,888 (GRCm39) missense probably damaging 1.00
R8770:Sobp UTSW 10 43,036,788 (GRCm39) missense probably damaging 1.00
R8832:Sobp UTSW 10 43,036,824 (GRCm39) missense probably damaging 1.00
R8979:Sobp UTSW 10 42,896,976 (GRCm39) critical splice donor site probably null
R9109:Sobp UTSW 10 42,898,902 (GRCm39) missense probably damaging 1.00
R9213:Sobp UTSW 10 42,898,374 (GRCm39) missense probably benign 0.01
R9298:Sobp UTSW 10 42,898,902 (GRCm39) missense probably damaging 1.00
R9702:Sobp UTSW 10 42,897,944 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CGGTACCAGATCACTATGGATGG -3'
(R):5'- GTCAAACTCTAAAGCTTCAGGAAGG -3'

Sequencing Primer
(F):5'- GTACCAGATCACTATGGATGGCAATC -3'
(R):5'- AGGGAGGATTTACGTGTAAT -3'
Posted On 2014-10-30