Incidental Mutation 'IGL03264:Rmnd5a'
ID 414991
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rmnd5a
Ensembl Gene ENSMUSG00000002222
Gene Name required for meiotic nuclear division 5 homolog A
Synonyms 1110007A06Rik, Gid2
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # IGL03264
Quality Score
Status
Chromosome 6
Chromosomal Location 71365618-71417621 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71370119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 389 (I389T)
Ref Sequence ENSEMBL: ENSMUSP00000002292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002292]
AlphaFold Q80YQ8
Predicted Effect probably damaging
Transcript: ENSMUST00000002292
AA Change: I389T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002292
Gene: ENSMUSG00000002222
AA Change: I389T

DomainStartEndE-ValueType
LisH 114 146 5.54e-5 SMART
CTLH 153 210 9.86e-11 SMART
CRA 208 302 7.07e-17 SMART
Pfam:zf-RING_UBOX 336 375 3.5e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144081
Predicted Effect unknown
Transcript: ENSMUST00000149415
AA Change: I215T
SMART Domains Protein: ENSMUSP00000115130
Gene: ENSMUSG00000002222
AA Change: I215T

DomainStartEndE-ValueType
CRA 35 129 7.07e-17 SMART
Pfam:zf-RING_UBOX 163 202 4e-20 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T G 17: 31,283,428 (GRCm39) S38A probably benign Het
Alkbh1 T G 12: 87,478,197 (GRCm39) D238A probably damaging Het
Arhgef17 A T 7: 100,529,220 (GRCm39) D1531E probably benign Het
Bltp1 A T 3: 37,056,784 (GRCm39) I3152F probably damaging Het
Cacng3 G T 7: 122,271,180 (GRCm39) G62W probably damaging Het
Cdh22 T C 2: 164,958,093 (GRCm39) I625V probably benign Het
Ces5a T C 8: 94,228,898 (GRCm39) N444S possibly damaging Het
Chst13 A T 6: 90,286,193 (GRCm39) Y256* probably null Het
Clcn5 T A X: 7,044,613 (GRCm39) H177L probably benign Het
Dars1 G A 1: 128,341,427 (GRCm39) R63C probably damaging Het
Dcun1d4 A G 5: 73,677,572 (GRCm39) S84G probably benign Het
Dcxr T C 11: 120,617,298 (GRCm39) N82D probably damaging Het
Eef1a2 C A 2: 180,790,527 (GRCm39) K376N possibly damaging Het
Efhc1 G A 1: 21,037,715 (GRCm39) M297I probably benign Het
Etfb G T 7: 43,101,897 (GRCm39) V64F probably damaging Het
Fam135b A C 15: 71,334,637 (GRCm39) N852K probably benign Het
Gigyf2 T C 1: 87,376,790 (GRCm39) probably benign Het
Gria4 T C 9: 4,513,288 (GRCm39) K274E probably benign Het
Irag1 A T 7: 110,525,553 (GRCm39) S200T probably benign Het
Itgae A G 11: 73,006,400 (GRCm39) E356G possibly damaging Het
Med12l C T 3: 59,208,788 (GRCm39) Q2139* probably null Het
Plxna4 A G 6: 32,155,337 (GRCm39) F1536L possibly damaging Het
Pramel19 A T 4: 101,798,329 (GRCm39) Q100L probably damaging Het
Rnf128 T G X: 138,511,985 (GRCm39) V144G probably damaging Het
Rpgrip1 A G 14: 52,378,109 (GRCm39) T486A possibly damaging Het
Rps6kc1 T C 1: 190,604,026 (GRCm39) T199A probably benign Het
Skint5 T A 4: 113,343,854 (GRCm39) D1338V unknown Het
Slc35g2 A T 9: 100,434,699 (GRCm39) I324K possibly damaging Het
Slc4a5 G A 6: 83,238,507 (GRCm39) R225H probably damaging Het
Srgap3 A T 6: 112,793,636 (GRCm39) H113Q probably damaging Het
Stpg2 A C 3: 139,014,970 (GRCm39) K378N possibly damaging Het
Svep1 A G 4: 58,066,422 (GRCm39) probably benign Het
Utp11 T C 4: 124,573,521 (GRCm39) K218E probably damaging Het
Vmn2r53 T A 7: 12,315,819 (GRCm39) I667F possibly damaging Het
Wdfy3 A G 5: 102,048,016 (GRCm39) L1763P probably damaging Het
Wnt2 A G 6: 17,989,959 (GRCm39) Y313H probably benign Het
Zfp638 T C 6: 83,923,229 (GRCm39) S676P probably benign Het
Zfp747l1 A G 7: 126,984,811 (GRCm39) probably benign Het
Other mutations in Rmnd5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02892:Rmnd5a APN 6 71,391,798 (GRCm39) missense probably benign 0.00
R0046:Rmnd5a UTSW 6 71,376,215 (GRCm39) missense probably damaging 0.98
R0046:Rmnd5a UTSW 6 71,376,215 (GRCm39) missense probably damaging 0.98
R1295:Rmnd5a UTSW 6 71,375,439 (GRCm39) missense probably benign 0.45
R1296:Rmnd5a UTSW 6 71,375,439 (GRCm39) missense probably benign 0.45
R1840:Rmnd5a UTSW 6 71,375,439 (GRCm39) missense probably benign 0.45
R3149:Rmnd5a UTSW 6 71,406,085 (GRCm39) missense probably benign 0.02
R3735:Rmnd5a UTSW 6 71,373,846 (GRCm39) missense possibly damaging 0.75
R3736:Rmnd5a UTSW 6 71,373,846 (GRCm39) missense possibly damaging 0.75
R4459:Rmnd5a UTSW 6 71,373,865 (GRCm39) missense probably damaging 0.98
R4532:Rmnd5a UTSW 6 71,376,109 (GRCm39) critical splice donor site probably null
R4782:Rmnd5a UTSW 6 71,390,333 (GRCm39) missense probably damaging 0.98
R5587:Rmnd5a UTSW 6 71,371,603 (GRCm39) splice site probably benign
R6442:Rmnd5a UTSW 6 71,371,659 (GRCm39) nonsense probably null
Posted On 2016-08-02