Incidental Mutation 'R8333:Rhno1'
ID 644477
Institutional Source Beutler Lab
Gene Symbol Rhno1
Ensembl Gene ENSMUSG00000048668
Gene Name RAD9-HUS1-RAD1 interacting nuclear orphan 1
Synonyms 5930416I19Rik, 2510047L19Rik
MMRRC Submission 067861-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R8333 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 128333963-128339874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 128334728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 198 (D198E)
Ref Sequence ENSEMBL: ENSMUSP00000054573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001562] [ENSMUST00000057421] [ENSMUST00000112151] [ENSMUST00000112152] [ENSMUST00000133134] [ENSMUST00000155573] [ENSMUST00000157005] [ENSMUST00000203719] [ENSMUST00000223237]
AlphaFold no structure available at present
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: D198E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054573
Gene: ENSMUSG00000048668
AA Change: D198E

DomainStartEndE-ValueType
Pfam:RHINO 1 233 1.1e-96 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112151
AA Change: D198E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107778
Gene: ENSMUSG00000048668
AA Change: D198E

DomainStartEndE-ValueType
Pfam:RHINO 1 233 1.4e-107 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112152
AA Change: D198E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107779
Gene: ENSMUSG00000048668
AA Change: D198E

DomainStartEndE-ValueType
Pfam:RHINO 1 233 1.4e-107 PFAM
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 probably benign
Transcript: ENSMUST00000155573
SMART Domains Protein: ENSMUSP00000114836
Gene: ENSMUSG00000048668

DomainStartEndE-ValueType
Pfam:RHINO 1 121 3.6e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000157005
Predicted Effect probably benign
Transcript: ENSMUST00000203719
Predicted Effect probably damaging
Transcript: ENSMUST00000223237
AA Change: D198E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.1899 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo2 T C 15: 97,143,166 (GRCm39) T419A probably damaging Het
Baiap2l1 A C 5: 144,217,691 (GRCm39) I298M possibly damaging Het
BC005624 G T 2: 30,863,748 (GRCm39) A245D probably benign Het
Cdh23 T A 10: 60,150,390 (GRCm39) I2527F probably damaging Het
Celsr1 T C 15: 85,915,615 (GRCm39) H786R possibly damaging Het
Cerkl A G 2: 79,168,922 (GRCm39) V427A possibly damaging Het
Cfap43 G T 19: 47,885,765 (GRCm39) C283* probably null Het
Chfr G A 5: 110,302,803 (GRCm39) A455T probably benign Het
Cldn13 T A 5: 134,943,850 (GRCm39) I112F possibly damaging Het
Cyb5rl T A 4: 106,925,875 (GRCm39) V19E probably benign Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Dlgap2 T A 8: 14,828,295 (GRCm39) C568S probably benign Het
Ecm2 T C 13: 49,671,859 (GRCm39) L120P probably damaging Het
Gpr156 T C 16: 37,812,416 (GRCm39) S251P probably damaging Het
Gpr182 T C 10: 127,585,790 (GRCm39) N387S probably benign Het
Grid1 T C 14: 35,291,595 (GRCm39) V834A possibly damaging Het
Igkv8-34 T C 6: 70,021,337 (GRCm39) S42G probably benign Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lrrc19 T A 4: 94,527,587 (GRCm39) D208V probably benign Het
Lrrc9 C T 12: 72,528,317 (GRCm39) T872I probably benign Het
Macf1 T C 4: 123,279,245 (GRCm39) probably null Het
Mrpl13 A G 15: 55,420,679 (GRCm39) M1T probably null Het
Ncapg C T 5: 45,831,805 (GRCm39) T217I probably damaging Het
Nim1k G A 13: 120,174,022 (GRCm39) P291S probably damaging Het
Or8c11 G A 9: 38,289,912 (GRCm39) G239D probably damaging Het
Or8k31-ps1 A T 2: 86,356,415 (GRCm39) Y35* probably null Het
Padi6 T C 4: 140,464,687 (GRCm39) M181V probably damaging Het
Pax7 T A 4: 139,557,514 (GRCm39) I86F probably damaging Het
Pbk T A 14: 66,054,680 (GRCm39) Y271N probably benign Het
Rabgap1 C T 2: 37,385,710 (GRCm39) P492L probably benign Het
Scn2a A C 2: 65,514,191 (GRCm39) I292L probably benign Het
Slc40a1 T C 1: 45,950,439 (GRCm39) S338G probably damaging Het
Slc45a3 A G 1: 131,905,928 (GRCm39) Y317C probably damaging Het
Stard9 T A 2: 120,532,270 (GRCm39) S2842R probably benign Het
Tle2 C T 10: 81,413,518 (GRCm39) T119I probably damaging Het
Ttn C T 2: 76,553,938 (GRCm39) V30922I possibly damaging Het
Usp33 C T 3: 152,080,297 (GRCm39) P476L probably damaging Het
Wdr38 T C 2: 38,889,361 (GRCm39) Y51H probably damaging Het
Other mutations in Rhno1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01601:Rhno1 APN 6 128,335,021 (GRCm39) missense probably damaging 0.98
R0574:Rhno1 UTSW 6 128,335,113 (GRCm39) splice site probably null
R1688:Rhno1 UTSW 6 128,334,897 (GRCm39) missense probably benign
R1754:Rhno1 UTSW 6 128,334,822 (GRCm39) missense probably benign 0.01
R9762:Rhno1 UTSW 6 128,336,119 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGGATGACTTGCGAAACC -3'
(R):5'- GGCCTTTAGTGCCATTGTTC -3'

Sequencing Primer
(F):5'- GATGACTTGCGAAACCTCCCC -3'
(R):5'- GAGAACTGTCAGTGCATGTACCTC -3'
Posted On 2020-09-02