Incidental Mutation 'R0463:Obox5'
ID41480
Institutional Source Beutler Lab
Gene Symbol Obox5
Ensembl Gene ENSMUSG00000074366
Gene Nameoocyte specific homeobox 5
Synonyms
MMRRC Submission 038663-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #R0463 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location15750131-15759800 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 15757646 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 37 (M37K)
Ref Sequence ENSEMBL: ENSMUSP00000134468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098802] [ENSMUST00000173053] [ENSMUST00000173455]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098802
AA Change: M37K

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096400
Gene: ENSMUSG00000074366
AA Change: M37K

DomainStartEndE-ValueType
low complexity region 62 74 N/A INTRINSIC
HOX 94 156 2e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173053
AA Change: M37K

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134618
Gene: ENSMUSG00000074366
AA Change: M37K

DomainStartEndE-ValueType
low complexity region 62 74 N/A INTRINSIC
HOX 94 156 2e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173455
AA Change: M37K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134468
Gene: ENSMUSG00000074366
AA Change: M37K

DomainStartEndE-ValueType
low complexity region 62 74 N/A INTRINSIC
HOX 94 156 2e-17 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,737,060 probably benign Het
Abcd2 C T 15: 91,159,124 M620I probably benign Het
Ada T A 2: 163,730,351 I243F probably benign Het
Adam12 T C 7: 133,974,416 probably null Het
Adarb2 A T 13: 8,203,188 probably benign Het
Adk A C 14: 21,423,536 Q287P probably benign Het
Ahnak A G 19: 9,009,407 probably benign Het
Aoc3 C T 11: 101,331,606 R223W probably damaging Het
Aqp11 T C 7: 97,729,021 D229G probably benign Het
Arhgap28 A G 17: 67,896,225 S78P probably damaging Het
Bfsp2 T A 9: 103,426,655 E383D possibly damaging Het
Bmpr1b A T 3: 141,857,430 V251D possibly damaging Het
Calhm1 C T 19: 47,143,841 V112I probably benign Het
Catsperd A G 17: 56,659,554 D508G probably damaging Het
Cfap54 A G 10: 92,874,943 probably null Het
Cfap70 A T 14: 20,448,563 Y19N probably damaging Het
Chga A T 12: 102,562,951 R396* probably null Het
Cntnap3 T C 13: 64,778,876 E560G probably damaging Het
Csmd1 T C 8: 15,921,759 T3024A probably damaging Het
Csrnp1 CCCTCCTCCTCCTCCTCCTC CCCTCCTCCTCCTCCTC 9: 119,972,775 probably benign Het
Cysltr1 A G X: 106,578,655 V75A possibly damaging Het
Dnah2 A T 11: 69,423,126 M4140K probably damaging Het
Dph5 A G 3: 115,928,703 S277G probably benign Het
Eftud2 A T 11: 102,864,771 D203E probably damaging Het
Egf A G 3: 129,706,233 Y252H probably benign Het
Egf A G 3: 129,737,549 S126P probably damaging Het
Faf1 C T 4: 109,890,941 A481V probably benign Het
Fat2 A T 11: 55,262,829 V3519D probably damaging Het
Fbln7 C A 2: 128,877,511 A76E probably benign Het
Galnt1 A T 18: 24,254,525 K49N probably benign Het
Glb1 ACCC ACC 9: 114,421,744 probably null Het
Grk1 T C 8: 13,409,279 Y277H probably damaging Het
Hap1 A G 11: 100,349,305 L555P probably damaging Het
Ier3 T C 17: 35,822,108 I94T possibly damaging Het
Il11 T C 7: 4,776,024 T36A probably damaging Het
Il5ra A T 6: 106,731,890 D296E probably damaging Het
Itk A T 11: 46,331,989 V551E probably damaging Het
Kcna2 T A 3: 107,105,160 D352E probably benign Het
Kif5a A T 10: 127,235,652 S776T probably benign Het
Klrb1c T C 6: 128,780,403 E233G probably benign Het
Kpna7 T C 5: 145,007,994 K12R possibly damaging Het
Lhpp C T 7: 132,610,677 probably benign Het
Lhx8 A T 3: 154,328,171 probably null Het
Lrrc6 T A 15: 66,380,474 M448L probably benign Het
Magel2 T A 7: 62,378,030 H227Q possibly damaging Het
Man1a A G 10: 54,074,498 V176A probably damaging Het
Mapkbp1 T A 2: 120,023,151 M1152K probably benign Het
Mcoln3 T A 3: 146,140,576 L547* probably null Het
Myof T C 19: 37,916,504 D1624G probably damaging Het
Myom2 T C 8: 15,104,123 V687A probably benign Het
Nav1 C A 1: 135,452,207 V1586F possibly damaging Het
Ndufb8 T C 19: 44,550,345 E179G possibly damaging Het
Nfam1 T C 15: 83,001,483 T223A probably damaging Het
Nrcam T A 12: 44,551,341 V371E probably damaging Het
Nup210l A G 3: 90,180,211 Q1097R probably null Het
Obscn A T 11: 59,061,530 N4270K probably benign Het
Olfr1008 T C 2: 85,689,839 S137P possibly damaging Het
Olfr463 G A 11: 87,893,196 H243Y probably damaging Het
Olfr802 A G 10: 129,681,839 M300T probably benign Het
Olfr893 G A 9: 38,209,064 A2T probably benign Het
Olfr995 T A 2: 85,438,286 S291C probably damaging Het
Patj G A 4: 98,674,308 E1505K probably damaging Het
Pnliprp1 T A 19: 58,738,196 Y328* probably null Het
Ppp1r36 G A 12: 76,418,967 E43K probably damaging Het
Ptch1 C T 13: 63,520,307 V939I probably damaging Het
Rgs22 C A 15: 36,092,938 K396N probably damaging Het
Rsrc1 A T 3: 67,180,861 H176L probably damaging Het
Ryr3 A T 2: 112,661,701 F3743L probably damaging Het
Scn7a C T 2: 66,675,740 G1602R probably benign Het
Sftpc A T 14: 70,522,670 V49E probably damaging Het
Slc16a10 A G 10: 40,040,616 V430A probably benign Het
Slco4c1 A C 1: 96,867,920 S138A possibly damaging Het
Snd1 T C 6: 28,724,956 I501T probably benign Het
Stxbp2 T A 8: 3,632,559 D49E probably damaging Het
Sytl4 A T X: 133,962,187 D16E probably benign Het
Tbc1d9b G A 11: 50,145,067 G130E probably benign Het
Tdrd6 T A 17: 43,625,561 D1532V probably damaging Het
Tekt1 T C 11: 72,351,952 D243G probably damaging Het
Tet2 A G 3: 133,486,666 L669S possibly damaging Het
Tnnt3 A G 7: 142,512,335 N201S probably benign Het
Trdn A G 10: 33,466,421 probably null Het
Trim36 T C 18: 46,178,456 E259G possibly damaging Het
Trpm1 C T 7: 64,220,254 P436S probably benign Het
Vmn1r183 T A 7: 24,055,501 L243Q probably damaging Het
Vps13b T C 15: 35,597,409 S1032P probably damaging Het
Vps37d T C 5: 135,076,541 E76G probably damaging Het
Vps72 A G 3: 95,121,304 H202R probably benign Het
Wdr75 T C 1: 45,819,602 S644P probably damaging Het
Wrn T A 8: 33,280,815 E697V possibly damaging Het
Xirp2 A G 2: 67,514,918 D2501G probably benign Het
Zfp472 T C 17: 32,975,962 W24R probably damaging Het
Zmym6 T C 4: 127,122,772 V782A probably damaging Het
Other mutations in Obox5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Obox5 APN 7 15758591 missense possibly damaging 0.73
IGL02105:Obox5 APN 7 15758575 missense probably benign 0.10
IGL02590:Obox5 APN 7 15757592 missense possibly damaging 0.51
IGL02642:Obox5 APN 7 15758047 missense probably benign 0.01
IGL02700:Obox5 APN 7 15758963 missense possibly damaging 0.70
IGL03129:Obox5 APN 7 15758759 missense probably damaging 0.99
R0312:Obox5 UTSW 7 15757560 missense probably damaging 0.98
R0467:Obox5 UTSW 7 15758007 missense possibly damaging 0.73
R0899:Obox5 UTSW 7 15758875 missense probably benign 0.04
R1574:Obox5 UTSW 7 15758633 missense probably damaging 0.99
R1574:Obox5 UTSW 7 15758633 missense probably damaging 0.99
R2017:Obox5 UTSW 7 15758882 missense probably benign 0.02
R3711:Obox5 UTSW 7 15758788 missense probably benign 0.33
R4391:Obox5 UTSW 7 15757974 nonsense probably null
R5217:Obox5 UTSW 7 15757868 splice site probably null
R5357:Obox5 UTSW 7 15757538 start codon destroyed probably null 0.94
R5424:Obox5 UTSW 7 15758882 missense probably benign 0.09
R5559:Obox5 UTSW 7 15757597 missense probably benign 0.19
R6533:Obox5 UTSW 7 15757607 missense probably benign 0.14
R7021:Obox5 UTSW 7 15757756 splice site probably null
R7097:Obox5 UTSW 7 15758807 missense probably damaging 0.99
R7122:Obox5 UTSW 7 15758807 missense probably damaging 0.99
R7180:Obox5 UTSW 7 15757924 missense probably benign 0.00
R7395:Obox5 UTSW 7 15758743 missense probably damaging 1.00
R7398:Obox5 UTSW 7 15758788 missense probably benign 0.33
R8111:Obox5 UTSW 7 15758616 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGATTCCTGCTCCAAAATGTCCAC -3'
(R):5'- GGTAAATATGGCCCCTTACAGCACC -3'

Sequencing Primer
(F):5'- ATGTCCACAACAAATGCTGG -3'
(R):5'- AGCACCTGGTTTCATTTGGATAC -3'
Posted On2013-05-23