Incidental Mutation 'IGL01601:Rhno1'
ID91783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhno1
Ensembl Gene ENSMUSG00000048668
Gene NameRAD9-HUS1-RAD1 interacting nuclear orphan 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL01601
Quality Score
Status
Chromosome6
Chromosomal Location128357000-128362911 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 128358058 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 101 (S101T)
Ref Sequence ENSEMBL: ENSMUSP00000152251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001562] [ENSMUST00000057421] [ENSMUST00000073316] [ENSMUST00000112151] [ENSMUST00000112152] [ENSMUST00000133134] [ENSMUST00000155573] [ENSMUST00000157005] [ENSMUST00000203719] [ENSMUST00000223237]
Predicted Effect probably benign
Transcript: ENSMUST00000001562
SMART Domains Protein: ENSMUSP00000001562
Gene: ENSMUSG00000001521

DomainStartEndE-ValueType
Pfam:Tub_N 30 84 1.7e-23 PFAM
Pfam:Tub_N 76 198 5.5e-16 PFAM
Pfam:Tub 213 454 1e-87 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000057421
AA Change: S101T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054573
Gene: ENSMUSG00000048668
AA Change: S101T

DomainStartEndE-ValueType
Pfam:RHINO 1 233 1.1e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073316
SMART Domains Protein: ENSMUSP00000073041
Gene: ENSMUSG00000001517

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
low complexity region 35 55 N/A INTRINSIC
low complexity region 110 126 N/A INTRINSIC
low complexity region 140 158 N/A INTRINSIC
FH 232 319 2.86e-42 SMART
low complexity region 429 454 N/A INTRINSIC
low complexity region 504 515 N/A INTRINSIC
low complexity region 533 546 N/A INTRINSIC
low complexity region 685 702 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112151
AA Change: S101T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107778
Gene: ENSMUSG00000048668
AA Change: S101T

DomainStartEndE-ValueType
Pfam:RHINO 1 233 1.4e-107 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112152
AA Change: S101T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107779
Gene: ENSMUSG00000048668
AA Change: S101T

DomainStartEndE-ValueType
Pfam:RHINO 1 233 1.4e-107 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132604
Predicted Effect probably benign
Transcript: ENSMUST00000133134
SMART Domains Protein: ENSMUSP00000145180
Gene: ENSMUSG00000001521

DomainStartEndE-ValueType
Pfam:Tub_N 35 76 2.5e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138313
Predicted Effect probably damaging
Transcript: ENSMUST00000155573
AA Change: S101T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114836
Gene: ENSMUSG00000048668
AA Change: S101T

DomainStartEndE-ValueType
Pfam:RHINO 1 121 3.6e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000157005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180586
Predicted Effect probably benign
Transcript: ENSMUST00000203719
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204148
Predicted Effect probably damaging
Transcript: ENSMUST00000223237
AA Change: S101T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,193,478 C104S unknown Het
Adgrf2 T C 17: 42,710,049 D628G probably benign Het
Aldh1l1 T A 6: 90,591,841 I708N probably damaging Het
Ank3 T A 10: 70,004,725 F985I possibly damaging Het
Arap2 A G 5: 62,641,342 W1315R probably damaging Het
Arhgef33 C A 17: 80,347,683 Q106K probably damaging Het
Atad5 G A 11: 80,095,517 G477S probably benign Het
Chgb T A 2: 132,793,491 I451K probably benign Het
Cln6 T A 9: 62,846,970 I98N probably damaging Het
Commd1 T C 11: 22,899,981 E234G probably damaging Het
Dock2 C A 11: 34,239,528 probably null Het
Flrt2 T C 12: 95,779,595 S236P probably damaging Het
Garnl3 G A 2: 32,997,689 Q770* probably null Het
Gpr22 C T 12: 31,710,045 probably benign Het
Hmcn1 A T 1: 150,627,413 D3880E probably benign Het
Lgals8 T C 13: 12,456,338 probably benign Het
Mccc1 A G 3: 35,989,952 V214A probably benign Het
Nat8l T C 5: 33,998,465 L155P probably damaging Het
Nckipsd A G 9: 108,813,955 S359G probably benign Het
Pex6 A C 17: 46,723,724 N785T probably damaging Het
Ptprz1 T A 6: 23,000,438 H842Q probably damaging Het
Rnf103 T G 6: 71,509,183 V266G probably damaging Het
Slc25a39 T C 11: 102,405,718 D100G probably damaging Het
Sspo T C 6: 48,486,379 L3746P probably benign Het
Svep1 C T 4: 58,084,872 G1822E probably damaging Het
Tbl3 T A 17: 24,702,317 D500V probably damaging Het
Tmc5 T C 7: 118,623,824 probably benign Het
Usp20 C T 2: 31,011,794 R524W probably benign Het
Wnk2 G T 13: 49,076,562 P829T probably damaging Het
Zmiz1 A G 14: 25,581,644 N84S possibly damaging Het
Other mutations in Rhno1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0574:Rhno1 UTSW 6 128358150 unclassified probably null
R1688:Rhno1 UTSW 6 128357934 missense probably benign
R1754:Rhno1 UTSW 6 128357859 missense probably benign 0.01
Posted On2013-12-09