Incidental Mutation 'R0948:Sobp'
ID 81721
Institutional Source Beutler Lab
Gene Symbol Sobp
Ensembl Gene ENSMUSG00000038248
Gene Name sine oculis binding protein
Synonyms 5330439J01Rik, 2900009C16Rik, jc, Jxc1
MMRRC Submission 039087-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.682) question?
Stock # R0948 (G1)
Quality Score 115
Status Not validated
Chromosome 10
Chromosomal Location 42878496-43050526 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 42898205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 460 (I460N)
Ref Sequence ENSEMBL: ENSMUSP00000040072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040275]
AlphaFold Q0P5V2
Predicted Effect probably damaging
Transcript: ENSMUST00000040275
AA Change: I460N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040072
Gene: ENSMUSG00000038248
AA Change: I460N

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.4%
  • 20x: 92.4%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik C T 19: 8,867,390 (GRCm39) T63M probably damaging Het
Abcb1a T A 5: 8,790,621 (GRCm39) probably null Het
Ahrr T C 13: 74,361,888 (GRCm39) D537G probably damaging Het
Anxa4 T A 6: 86,718,913 (GRCm39) I269F probably damaging Het
Aoc1l1 A G 6: 48,953,278 (GRCm39) Y401C probably damaging Het
Atm A T 9: 53,407,258 (GRCm39) M1160K probably benign Het
Ccdc175 A G 12: 72,177,897 (GRCm39) Y434H probably damaging Het
Col19a1 C T 1: 24,335,882 (GRCm39) A855T probably damaging Het
Cyp2a4 A G 7: 26,010,213 (GRCm39) D246G probably damaging Het
Dmbt1 T C 7: 130,694,847 (GRCm39) L840P possibly damaging Het
Dock6 A T 9: 21,712,829 (GRCm39) D2009E probably damaging Het
E2f3 C T 13: 30,169,516 (GRCm39) A46T probably damaging Het
Ect2l A T 10: 18,016,334 (GRCm39) C635S probably damaging Het
Fer1l6 A G 15: 58,435,924 (GRCm39) D439G probably benign Het
Hao1 A C 2: 134,372,693 (GRCm39) M105R probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Igsf10 A G 3: 59,238,525 (GRCm39) I552T probably damaging Het
Il31ra A G 13: 112,666,912 (GRCm39) S470P possibly damaging Het
Mfsd1 A G 3: 67,504,067 (GRCm39) N353S possibly damaging Het
Mga T A 2: 119,772,140 (GRCm39) F1667I possibly damaging Het
Niban2 A G 2: 32,812,872 (GRCm39) Y480C probably damaging Het
Nwd2 T C 5: 63,964,655 (GRCm39) V1413A probably damaging Het
Or8b1 T G 9: 38,400,244 (GRCm39) S306R probably benign Het
Or8b50 G A 9: 38,517,787 (GRCm39) V9I possibly damaging Het
Osbpl10 T A 9: 114,996,187 (GRCm39) V119E probably damaging Het
Plec C A 15: 76,089,887 (GRCm39) R151L probably benign Het
Ptpn12 T C 5: 21,203,041 (GRCm39) H579R probably benign Het
Rnase4 G T 14: 51,342,362 (GRCm39) G29C probably damaging Het
Sim1 C A 10: 50,857,423 (GRCm39) S391* probably null Het
Spns3 A T 11: 72,436,766 (GRCm39) D75E probably damaging Het
Strn4 T A 7: 16,571,638 (GRCm39) C26* probably null Het
Tacstd2 T A 6: 67,512,102 (GRCm39) I197L probably damaging Het
Trpc6 A G 9: 8,610,416 (GRCm39) T295A possibly damaging Het
Txnl1 G T 18: 63,825,191 (GRCm39) S18R possibly damaging Het
U2surp A G 9: 95,343,550 (GRCm39) probably benign Het
Ube2frt A T 12: 36,140,934 (GRCm39) probably benign Het
Vwce A G 19: 10,630,441 (GRCm39) Y500C probably damaging Het
Wdr49 A C 3: 75,358,158 (GRCm39) S196A probably benign Het
Wfs1 T C 5: 37,124,905 (GRCm39) Y662C probably damaging Het
Wnt8b A C 19: 44,498,968 (GRCm39) D133A possibly damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp532 C A 18: 65,756,889 (GRCm39) A274E probably damaging Het
Zfp74 A G 7: 29,635,362 (GRCm39) probably null 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
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
R2316:Sobp UTSW 10 43,034,034 (GRCm39) missense possibly damaging 0.75
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'- CCGAAGTTCATCATCTGGGGAACC -3'
(R):5'- ACACTGCCAACTGCTCTGTCAC -3'

Sequencing Primer
(F):5'- ATCTGGGGAACCGGCATC -3'
(R):5'- ATGGTGATGACCAACCGC -3'
Posted On 2013-11-08