Incidental Mutation 'IGL02393:Rogdi'
ID293899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rogdi
Ensembl Gene ENSMUSG00000022540
Gene Namerogdi homolog
Synonyms0610011C19Rik, Lzf
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.298) question?
Stock #IGL02393
Quality Score
Status
Chromosome16
Chromosomal Location5008730-5013553 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 5009224 bp
ZygosityHeterozygous
Amino Acid Change Serine to Phenylalanine at position 306 (S306F)
Ref Sequence ENSEMBL: ENSMUSP00000023191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023189] [ENSMUST00000023191] [ENSMUST00000090453] [ENSMUST00000115844] [ENSMUST00000178155] [ENSMUST00000184256] [ENSMUST00000184439] [ENSMUST00000185147] [ENSMUST00000201077] [ENSMUST00000202281]
Predicted Effect probably benign
Transcript: ENSMUST00000023189
SMART Domains Protein: ENSMUSP00000023189
Gene: ENSMUSG00000022536

DomainStartEndE-ValueType
Pfam:PWWP 6 89 1.4e-24 PFAM
low complexity region 109 122 N/A INTRINSIC
AT_hook 167 179 3.21e-1 SMART
Pfam:NAD_binding_2 266 422 1.2e-36 PFAM
Pfam:F420_oxidored 268 355 2e-6 PFAM
Pfam:NAD_binding_11 423 544 2.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000023191
AA Change: S306F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023191
Gene: ENSMUSG00000022540
AA Change: S306F

DomainStartEndE-ValueType
Pfam:Rogdi_lz 18 298 9.7e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090453
SMART Domains Protein: ENSMUSP00000087938
Gene: ENSMUSG00000022540

DomainStartEndE-ValueType
Pfam:Rogdi_lz 18 210 1.2e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115844
SMART Domains Protein: ENSMUSP00000111510
Gene: ENSMUSG00000022536

DomainStartEndE-ValueType
Pfam:PWWP 6 89 1.8e-24 PFAM
low complexity region 109 122 N/A INTRINSIC
AT_hook 167 179 3.21e-1 SMART
Pfam:NAD_binding_2 266 428 2.6e-41 PFAM
Pfam:F420_oxidored 268 361 3.2e-9 PFAM
Pfam:NAD_binding_11 429 550 3.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178155
SMART Domains Protein: ENSMUSP00000137083
Gene: ENSMUSG00000096215

DomainStartEndE-ValueType
Pfam:DUF4713 10 65 5.1e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183821
Predicted Effect probably benign
Transcript: ENSMUST00000184256
SMART Domains Protein: ENSMUSP00000138990
Gene: ENSMUSG00000096215

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184439
SMART Domains Protein: ENSMUSP00000139370
Gene: ENSMUSG00000096215

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185147
SMART Domains Protein: ENSMUSP00000139067
Gene: ENSMUSG00000096215

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201077
SMART Domains Protein: ENSMUSP00000144166
Gene: ENSMUSG00000022540

DomainStartEndE-ValueType
Pfam:Rogdi_lz 12 134 7.7e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201726
Predicted Effect probably benign
Transcript: ENSMUST00000202281
AA Change: S284F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144481
Gene: ENSMUSG00000022540
AA Change: S284F

DomainStartEndE-ValueType
Pfam:Rogdi_lz 18 276 4.4e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202998
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik A G 1: 105,687,368 I253M probably damaging Het
Adam32 A T 8: 24,920,053 Y129N probably damaging Het
Afap1l2 T C 19: 56,914,440 K695R probably damaging Het
Arhgap18 T G 10: 26,877,183 S357R probably benign Het
Camsap1 T C 2: 25,938,322 H1130R probably benign Het
Cdkl4 A G 17: 80,560,415 F35L probably damaging Het
Crnn A G 3: 93,149,368 H487R probably damaging Het
Dcaf4 C T 12: 83,530,031 P95L probably damaging Het
Deaf1 A T 7: 141,313,333 V382E possibly damaging Het
Dph7 T G 2: 24,966,597 V187G possibly damaging Het
Fat3 G T 9: 15,988,412 C3108* probably null Het
Ggt5 T C 10: 75,610,237 probably benign Het
Kif26a G A 12: 112,172,664 V396M probably damaging Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mterf4 C T 1: 93,302,879 V182I possibly damaging Het
Nsg1 T C 5: 38,158,911 D32G probably damaging Het
Olfr175-ps1 A G 16: 58,824,046 I221T probably damaging Het
Olfr788 T C 10: 129,473,195 S168P probably damaging Het
Olfr808 T A 10: 129,767,793 V99E probably benign Het
P3h2 T C 16: 25,992,825 Y216C probably damaging Het
Pdzd9 A C 7: 120,662,983 Y85* probably null Het
Prkdc T A 16: 15,816,758 V3589D probably benign Het
Qars A G 9: 108,514,329 T26A probably benign Het
Rhd T C 4: 134,884,095 S189P probably benign Het
Rhobtb1 A T 10: 69,288,987 H555L probably damaging Het
Slc25a25 C T 2: 32,417,843 V259I probably benign Het
Srrm1 A T 4: 135,321,414 probably benign Het
Stkld1 T C 2: 26,950,142 V408A probably benign Het
Thbs1 T C 2: 118,123,099 V999A possibly damaging Het
Tmprss11d T A 5: 86,303,612 *280L probably null Het
Trim54 A G 5: 31,131,980 probably benign Het
Tspear G A 10: 77,836,573 R202H probably damaging Het
Vwa8 G A 14: 79,182,977 G1706D probably damaging Het
Other mutations in Rogdi
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1778:Rogdi UTSW 16 5010505 missense probably benign 0.38
R2973:Rogdi UTSW 16 5011662 missense probably damaging 1.00
R2974:Rogdi UTSW 16 5011662 missense probably damaging 1.00
R4753:Rogdi UTSW 16 5010499 missense probably damaging 0.99
R5340:Rogdi UTSW 16 5013361 missense probably benign 0.32
R5893:Rogdi UTSW 16 5013394 nonsense probably null
R5976:Rogdi UTSW 16 5013311 missense probably benign 0.11
R6341:Rogdi UTSW 16 5013377 splice site probably null
R7069:Rogdi UTSW 16 5013498 unclassified probably benign
R7709:Rogdi UTSW 16 5009234 missense probably damaging 1.00
Posted On2015-04-16