Incidental Mutation 'IGL02827:Rmnd5b'
ID 361260
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rmnd5b
Ensembl Gene ENSMUSG00000001054
Gene Name required for meiotic nuclear division 5 homolog B
Synonyms 0610039K22Rik, Gid2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02827
Quality Score
Status
Chromosome 11
Chromosomal Location 51514500-51526723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51518849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 48 (L48P)
Ref Sequence ENSEMBL: ENSMUSP00000120636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001081] [ENSMUST00000127405] [ENSMUST00000136020]
AlphaFold Q91YQ7
Predicted Effect probably benign
Transcript: ENSMUST00000001081
AA Change: L48P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000001081
Gene: ENSMUSG00000001054
AA Change: L48P

DomainStartEndE-ValueType
LisH 116 148 3.6e-4 SMART
CTLH 155 212 7.82e-14 SMART
CRA 210 304 1.63e-21 SMART
Pfam:zf-RING_UBOX 338 377 3.7e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000001083
Predicted Effect probably benign
Transcript: ENSMUST00000127405
SMART Domains Protein: ENSMUSP00000120014
Gene: ENSMUSG00000001056

DomainStartEndE-ValueType
Pfam:Ribosomal_L7Ae 45 139 1.1e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132854
Predicted Effect possibly damaging
Transcript: ENSMUST00000136020
AA Change: L48P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120636
Gene: ENSMUSG00000001054
AA Change: L48P

DomainStartEndE-ValueType
LisH 116 148 3.6e-4 SMART
CTLH 155 212 7.82e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147009
SMART Domains Protein: ENSMUSP00000118594
Gene: ENSMUSG00000001054

DomainStartEndE-ValueType
Pfam:CLTH 1 91 1.4e-11 PFAM
Pfam:zf-RING_UBOX 130 169 3.1e-19 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,845,699 (GRCm39) S1554P probably damaging Het
Actn2 A T 13: 12,290,085 (GRCm39) L152Q probably damaging Het
Afg3l2 T C 18: 67,559,015 (GRCm39) I369V probably damaging Het
Aqp6 G A 15: 99,500,892 (GRCm39) G199S probably damaging Het
Asgr2 A G 11: 69,987,723 (GRCm39) I74V probably benign Het
Cebpz T C 17: 79,236,760 (GRCm39) R702G probably damaging Het
Cers1 C T 8: 70,774,177 (GRCm39) P145S probably damaging Het
Ddx21 T C 10: 62,434,153 (GRCm39) K202R probably benign Het
Gphn A T 12: 78,655,994 (GRCm39) D407V probably damaging Het
Hnf1b A G 11: 83,746,752 (GRCm39) K123E probably damaging Het
Ifitm10 T C 7: 141,882,317 (GRCm39) D151G unknown Het
Ifna14 T A 4: 88,489,601 (GRCm39) K145N probably benign Het
Lamc2 C T 1: 153,015,527 (GRCm39) C602Y probably damaging Het
Mrps25 T C 6: 92,152,163 (GRCm39) E119G probably benign Het
Or10ak9 A T 4: 118,726,157 (GRCm39) M60L probably damaging Het
Or1f12 A G 13: 21,721,528 (GRCm39) S216P probably benign Het
Pgm5 C A 19: 24,686,659 (GRCm39) R516L probably benign Het
Pramel31 C T 4: 144,090,331 (GRCm39) A457V probably damaging Het
Samd4b G A 7: 28,113,546 (GRCm39) R140C probably damaging Het
Sema3d T C 5: 12,635,085 (GRCm39) I717T probably benign Het
Sh3tc2 G A 18: 62,146,230 (GRCm39) S1203N probably benign Het
Smpdl3a A G 10: 57,678,592 (GRCm39) T132A probably damaging Het
Stard13 T C 5: 150,986,591 (GRCm39) I188M probably benign Het
Stk17b T C 1: 53,815,701 (GRCm39) T33A probably benign Het
Stxbp3 A T 3: 108,717,211 (GRCm39) I264N probably damaging Het
Tmem60 T A 5: 21,091,622 (GRCm39) F129Y probably damaging Het
Trpm1 A G 7: 63,868,908 (GRCm39) D404G probably null Het
Unc79 A C 12: 103,041,105 (GRCm39) S713R possibly damaging Het
Uox A C 3: 146,302,951 (GRCm39) probably benign Het
Vmn2r68 T C 7: 84,886,800 (GRCm39) D38G probably damaging Het
Vps13a T C 19: 16,618,998 (GRCm39) D2856G possibly damaging Het
Vsig10l T C 7: 43,114,293 (GRCm39) L205P probably damaging Het
Other mutations in Rmnd5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01669:Rmnd5b APN 11 51,518,727 (GRCm39) missense probably damaging 1.00
R0092:Rmnd5b UTSW 11 51,520,419 (GRCm39) missense possibly damaging 0.90
R1886:Rmnd5b UTSW 11 51,518,465 (GRCm39) missense probably damaging 1.00
R4556:Rmnd5b UTSW 11 51,517,732 (GRCm39) splice site probably null
R4996:Rmnd5b UTSW 11 51,518,735 (GRCm39) missense probably damaging 0.99
R5283:Rmnd5b UTSW 11 51,517,887 (GRCm39) missense probably damaging 1.00
R5590:Rmnd5b UTSW 11 51,518,789 (GRCm39) missense probably damaging 1.00
R6119:Rmnd5b UTSW 11 51,516,536 (GRCm39) missense probably benign 0.21
R6993:Rmnd5b UTSW 11 51,515,427 (GRCm39) intron probably benign
R7128:Rmnd5b UTSW 11 51,515,364 (GRCm39) missense possibly damaging 0.91
R8779:Rmnd5b UTSW 11 51,518,459 (GRCm39) missense possibly damaging 0.64
R8971:Rmnd5b UTSW 11 51,515,322 (GRCm39) missense probably benign 0.02
R9080:Rmnd5b UTSW 11 51,515,055 (GRCm39) critical splice donor site probably null
R9610:Rmnd5b UTSW 11 51,517,869 (GRCm39) missense probably damaging 0.97
R9611:Rmnd5b UTSW 11 51,517,869 (GRCm39) missense probably damaging 0.97
R9690:Rmnd5b UTSW 11 51,518,511 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18