Incidental Mutation 'R6256:Ocel1'
ID 506118
Institutional Source Beutler Lab
Gene Symbol Ocel1
Ensembl Gene ENSMUSG00000002396
Gene Name occludin/ELL domain containing 1
Synonyms 9430098E02Rik
MMRRC Submission 044373-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R6256 (G1)
Quality Score 85.0076
Status Validated
Chromosome 8
Chromosomal Location 71823942-71826333 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 71824472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002466] [ENSMUST00000002469] [ENSMUST00000019169] [ENSMUST00000110051] [ENSMUST00000110052] [ENSMUST00000110053] [ENSMUST00000110054] [ENSMUST00000137058] [ENSMUST00000139541]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002466
SMART Domains Protein: ENSMUSP00000002466
Gene: ENSMUSG00000002393

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
ZnF_C4 54 125 1.48e-38 SMART
low complexity region 173 185 N/A INTRINSIC
HOLI 191 351 1.07e-39 SMART
Predicted Effect unknown
Transcript: ENSMUST00000002469
AA Change: S52P
SMART Domains Protein: ENSMUSP00000002469
Gene: ENSMUSG00000002396
AA Change: S52P

DomainStartEndE-ValueType
low complexity region 5 23 N/A INTRINSIC
low complexity region 29 62 N/A INTRINSIC
Pfam:Occludin_ELL 106 207 8.7e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000019169
SMART Domains Protein: ENSMUSP00000019169
Gene: ENSMUSG00000002395

DomainStartEndE-ValueType
Pfam:Use1 15 266 9.7e-110 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000110051
AA Change: S52P
SMART Domains Protein: ENSMUSP00000105678
Gene: ENSMUSG00000002396
AA Change: S52P

DomainStartEndE-ValueType
low complexity region 5 23 N/A INTRINSIC
low complexity region 29 62 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000110052
AA Change: S52P
SMART Domains Protein: ENSMUSP00000105679
Gene: ENSMUSG00000002396
AA Change: S52P

DomainStartEndE-ValueType
low complexity region 5 23 N/A INTRINSIC
low complexity region 29 62 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110053
SMART Domains Protein: ENSMUSP00000105680
Gene: ENSMUSG00000002395

DomainStartEndE-ValueType
Pfam:Use1 30 280 4.6e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136368
Predicted Effect probably benign
Transcript: ENSMUST00000110054
SMART Domains Protein: ENSMUSP00000105681
Gene: ENSMUSG00000002395

DomainStartEndE-ValueType
Pfam:Use1 15 266 9.7e-110 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137137
Predicted Effect probably benign
Transcript: ENSMUST00000124732
SMART Domains Protein: ENSMUSP00000116498
Gene: ENSMUSG00000002393

DomainStartEndE-ValueType
ZnF_C4 38 80 4.35e-4 SMART
low complexity region 128 140 N/A INTRINSIC
HOLI 146 254 2.72e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127517
Predicted Effect probably benign
Transcript: ENSMUST00000137058
SMART Domains Protein: ENSMUSP00000121648
Gene: ENSMUSG00000002393

DomainStartEndE-ValueType
low complexity region 39 62 N/A INTRINSIC
ZnF_C4 76 118 4.35e-4 SMART
Pfam:Hormone_recep 175 270 9.4e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137734
Predicted Effect probably benign
Transcript: ENSMUST00000139541
SMART Domains Protein: ENSMUSP00000122406
Gene: ENSMUSG00000002395

DomainStartEndE-ValueType
Pfam:Use1 15 74 2e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142685
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 73,205,272 (GRCm39) Q361L probably damaging Het
Abca7 A G 10: 79,838,456 (GRCm39) T577A probably damaging Het
Acad12 A T 5: 121,752,149 (GRCm39) V54E probably benign Het
Ago4 A G 4: 126,414,019 (GRCm39) Y91H probably damaging Het
Akr1b10 T C 6: 34,364,623 (GRCm39) V28A probably damaging Het
Ccdc33 T A 9: 58,009,201 (GRCm39) probably null Het
Ccdc7a T C 8: 129,662,074 (GRCm39) probably null Het
Ces1f A T 8: 93,992,422 (GRCm39) V343E probably damaging Het
Cftr T C 6: 18,274,660 (GRCm39) L896P probably damaging Het
Csmd3 G A 15: 47,533,125 (GRCm39) P2375S probably damaging Het
Dnajb14 C T 3: 137,614,124 (GRCm39) A345V probably damaging Het
Dnajb14 G C 3: 137,614,123 (GRCm39) A345P probably damaging Het
Dnase1 G A 16: 3,855,485 (GRCm39) R24K probably benign Het
Dnmbp C T 19: 43,840,720 (GRCm39) V560M probably damaging Het
Dop1b T A 16: 93,604,102 (GRCm39) I1981N possibly damaging Het
Eif3a A C 19: 60,759,464 (GRCm39) S770A possibly damaging Het
Fbxl7 A T 15: 26,553,088 (GRCm39) C60S probably benign Het
Fras1 A T 5: 96,881,702 (GRCm39) D2478V possibly damaging Het
Hrnr A G 3: 93,229,918 (GRCm39) D52G probably damaging Het
Jmjd1c T A 10: 67,056,187 (GRCm39) L823M probably damaging Het
Kdm1a G T 4: 136,295,911 (GRCm39) C172* probably null Het
Kdm6b C T 11: 69,297,555 (GRCm39) E295K probably damaging Het
Mepe A T 5: 104,484,940 (GRCm39) M27L probably benign Het
Mogat2 A T 7: 98,869,102 (GRCm39) H305Q probably damaging Het
Mst1r T A 9: 107,794,465 (GRCm39) Y1215N probably damaging Het
Muc5ac A T 7: 141,343,532 (GRCm39) H48L possibly damaging Het
Myo7b T C 18: 32,116,748 (GRCm39) D953G probably damaging Het
Pcdhb6 A G 18: 37,468,978 (GRCm39) D633G probably damaging Het
Ppm1l A G 3: 69,405,230 (GRCm39) I176V probably benign Het
Sall3 C T 18: 81,013,076 (GRCm39) R1120H possibly damaging Het
Sbf1 G A 15: 89,185,070 (GRCm39) P1018S probably benign Het
Setbp1 T C 18: 78,900,472 (GRCm39) Y1065C probably damaging Het
Slc25a2 T C 18: 37,770,776 (GRCm39) probably null Het
Slc4a2 C A 5: 24,640,888 (GRCm39) T729K probably damaging Het
Sptlc2 T C 12: 87,402,305 (GRCm39) E207G probably damaging Het
Sult6b1 A T 17: 79,214,343 (GRCm39) F27I probably benign Het
Syf2 A T 4: 134,661,889 (GRCm39) K84N probably damaging Het
Tmem209 A T 6: 30,497,166 (GRCm39) N183K probably benign Het
Tmem232 G T 17: 65,785,397 (GRCm39) Q188K possibly damaging Het
Tomm70a A T 16: 56,973,055 (GRCm39) T598S probably benign Het
Ttll13 A G 7: 79,908,052 (GRCm39) T556A probably benign Het
Vmn2r120 A T 17: 57,831,700 (GRCm39) L363* probably null Het
Xpo6 G T 7: 125,707,791 (GRCm39) Q872K probably damaging Het
Xrra1 A C 7: 99,563,671 (GRCm39) S553R probably damaging Het
Zfy1 A T Y: 738,765 (GRCm39) V147E unknown Homo
Zfy2 T C Y: 2,116,267 (GRCm39) I258V probably benign Homo
Other mutations in Ocel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1084:Ocel1 UTSW 8 71,824,632 (GRCm39) splice site probably null
R4744:Ocel1 UTSW 8 71,825,397 (GRCm39) missense probably damaging 1.00
R5560:Ocel1 UTSW 8 71,825,122 (GRCm39) missense probably damaging 0.99
R7653:Ocel1 UTSW 8 71,824,560 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCCGGTTTCAAGAATGGGGC -3'
(R):5'- TCTTACAACGAGTGGGCAC -3'

Sequencing Primer
(F):5'- AGCCACTCTCGAGCATGACG -3'
(R):5'- CTCACAGCTCGTAGTCAGGTAC -3'
Posted On 2018-02-28