Incidental Mutation 'R4076:Obox3'
ID 316559
Institutional Source Beutler Lab
Gene Symbol Obox3
Ensembl Gene ENSMUSG00000066772
Gene Name oocyte specific homeobox 3
Synonyms Ohx
MMRRC Submission 040975-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R4076 (G1)
Quality Score 166
Status Not validated
Chromosome 7
Chromosomal Location 15359231-15373702 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 15359724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 315 (T315N)
Ref Sequence ENSEMBL: ENSMUSP00000134531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086122] [ENSMUST00000095217] [ENSMUST00000173395] [ENSMUST00000173912] [ENSMUST00000174151] [ENSMUST00000174443] [ENSMUST00000174842]
AlphaFold Q3UT54
Predicted Effect possibly damaging
Transcript: ENSMUST00000086122
AA Change: T315N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772
AA Change: T315N

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000095217
AA Change: T315N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092842
Gene: ENSMUSG00000066772
AA Change: T315N

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173395
SMART Domains Protein: ENSMUSP00000133788
Gene: ENSMUSG00000066772

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173912
AA Change: T315N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133427
Gene: ENSMUSG00000066772
AA Change: T315N

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174151
SMART Domains Protein: ENSMUSP00000133814
Gene: ENSMUSG00000066772

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000174443
AA Change: T315N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134531
Gene: ENSMUSG00000066772
AA Change: T315N

DomainStartEndE-ValueType
HOX 94 156 1.84e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182148
Predicted Effect probably benign
Transcript: ENSMUST00000174842
SMART Domains Protein: ENSMUSP00000134526
Gene: ENSMUSG00000066772

DomainStartEndE-ValueType
HOX 94 151 1.46e-10 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 T A 7: 119,297,981 (GRCm39) L206H probably benign Het
Adam34l A T 8: 44,079,387 (GRCm39) F279Y probably damaging Het
Anxa5 T C 3: 36,504,529 (GRCm39) I277V probably benign Het
Atg12 A G 18: 46,870,491 (GRCm39) F92L probably benign Het
Cd48 T A 1: 171,523,451 (GRCm39) V98D probably damaging Het
Dnah11 A G 12: 118,009,413 (GRCm39) M2083T probably benign Het
Dnah9 T C 11: 65,975,730 (GRCm39) T1440A probably benign Het
Dnali1 T C 4: 124,953,263 (GRCm39) D188G probably damaging Het
Dst A G 1: 34,231,350 (GRCm39) E2656G probably benign Het
Eps15l1 A G 8: 73,134,128 (GRCm39) I482T probably damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Eva1c T A 16: 90,701,019 (GRCm39) F331Y probably damaging Het
Fcho1 T C 8: 72,163,013 (GRCm39) H672R probably damaging Het
Fras1 G C 5: 96,891,017 (GRCm39) D2849H probably damaging Het
Hdc C T 2: 126,458,181 (GRCm39) R47Q possibly damaging Het
Ighv1-30 C T 12: 114,781,021 (GRCm39) noncoding transcript Het
Krtap31-1 T C 11: 99,799,058 (GRCm39) I87T possibly damaging Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Ltb4r2 A T 14: 56,000,398 (GRCm39) R340W probably benign Het
Map10 T C 8: 126,398,584 (GRCm39) V659A probably benign Het
Nars2 T A 7: 96,607,301 (GRCm39) S91T probably damaging Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Or5b3 G A 19: 13,388,299 (GRCm39) R122H possibly damaging Het
Osgin1 A C 8: 120,171,772 (GRCm39) S189R possibly damaging Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Pik3c2g A T 6: 139,798,589 (GRCm39) N373I probably damaging Het
Pou2f2 T C 7: 24,796,713 (GRCm39) T270A probably damaging Het
Rad51b T G 12: 79,361,656 (GRCm39) S122R probably damaging Het
Rev1 T G 1: 38,093,319 (GRCm39) K1075T possibly damaging Het
Rrbp1 T G 2: 143,805,030 (GRCm39) Q1045P probably benign Het
Scg2 A C 1: 79,414,574 (GRCm39) F50V probably damaging Het
Slco1a5 A T 6: 142,213,950 (GRCm39) I57K possibly damaging Het
Tfb1m T A 17: 3,571,945 (GRCm39) R257W probably damaging Het
Tm2d3 T A 7: 65,347,498 (GRCm39) L49* probably null Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Zbtb11 C T 16: 55,818,427 (GRCm39) T617I possibly damaging Het
Zfp608 A T 18: 55,031,180 (GRCm39) V920E probably damaging Het
Other mutations in Obox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01943:Obox3 APN 7 15,360,777 (GRCm39) missense probably benign 0.00
IGL02601:Obox3 APN 7 15,360,848 (GRCm39) missense probably damaging 0.99
IGL02978:Obox3 APN 7 15,360,178 (GRCm39) missense probably benign 0.11
IGL03088:Obox3 APN 7 15,360,927 (GRCm39) splice site probably benign
IGL03178:Obox3 APN 7 15,361,202 (GRCm39) missense probably benign 0.12
IGL03219:Obox3 APN 7 15,359,803 (GRCm39) missense probably damaging 0.99
IGL03373:Obox3 APN 7 15,359,715 (GRCm39) missense probably benign 0.01
R0119:Obox3 UTSW 7 15,360,252 (GRCm39) critical splice acceptor site probably null
R1471:Obox3 UTSW 7 15,360,875 (GRCm39) missense probably benign 0.01
R3916:Obox3 UTSW 7 15,361,151 (GRCm39) missense probably benign 0.00
R4072:Obox3 UTSW 7 15,359,724 (GRCm39) missense possibly damaging 0.92
R4073:Obox3 UTSW 7 15,359,724 (GRCm39) missense possibly damaging 0.92
R4075:Obox3 UTSW 7 15,359,724 (GRCm39) missense possibly damaging 0.92
R4712:Obox3 UTSW 7 15,360,764 (GRCm39) missense probably benign 0.04
R4751:Obox3 UTSW 7 15,359,617 (GRCm39) critical splice donor site probably null
R4868:Obox3 UTSW 7 15,361,235 (GRCm39) missense probably damaging 1.00
R5151:Obox3 UTSW 7 15,360,173 (GRCm39) missense probably damaging 1.00
R5290:Obox3 UTSW 7 15,360,774 (GRCm39) missense probably benign 0.03
R5399:Obox3 UTSW 7 15,360,213 (GRCm39) missense probably benign 0.00
R5882:Obox3 UTSW 7 15,360,893 (GRCm39) missense probably benign 0.17
R6147:Obox3 UTSW 7 15,359,926 (GRCm39) missense probably damaging 0.99
R6378:Obox3 UTSW 7 15,360,027 (GRCm39) missense probably benign 0.00
R7221:Obox3 UTSW 7 15,359,983 (GRCm39) missense probably benign 0.01
R7314:Obox3 UTSW 7 15,361,079 (GRCm39) missense possibly damaging 0.50
R8124:Obox3 UTSW 7 15,323,874 (GRCm39) splice site probably null
R8711:Obox3 UTSW 7 15,360,148 (GRCm39) missense probably benign 0.44
R8825:Obox3 UTSW 7 15,361,226 (GRCm39) missense possibly damaging 0.94
Z1176:Obox3 UTSW 7 15,360,149 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TGGACTCCGAATTATGTGCTC -3'
(R):5'- GAATCTCAAACTGACTTAGCAGTAGC -3'

Sequencing Primer
(F):5'- AACTTTATCTGCCTCAGTACAGGGG -3'
(R):5'- GCAGTAGCTGAAGTTCCAGTC -3'
Posted On 2015-05-15