Incidental Mutation 'IGL02892:Rmnd5a'
ID 363229
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
Is this an essential gene? Probably essential (E-score: 0.934) question?
Stock # IGL02892
Quality Score
Status
Chromosome 6
Chromosomal Location 71388634-71440637 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71414814 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 131 (M131L)
Ref Sequence ENSEMBL: ENSMUSP00000002292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002292]
AlphaFold Q80YQ8
Predicted Effect probably benign
Transcript: ENSMUST00000002292
AA Change: M131L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000002292
Gene: ENSMUSG00000002222
AA Change: M131L

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 A T 12: 84,604,997 L493* probably null Het
Adam32 T A 8: 24,878,711 probably benign Het
Alpk1 T C 3: 127,680,122 D744G possibly damaging Het
Arhgef12 A G 9: 43,000,972 V530A possibly damaging Het
Baz2b A T 2: 59,900,736 N2095K probably damaging Het
Btnl2 A T 17: 34,362,668 Q240L possibly damaging Het
Cd96 T C 16: 46,049,797 probably null Het
Cep350 G A 1: 155,868,806 T2089I possibly damaging Het
Chd9 T C 8: 90,976,915 probably benign Het
Cib4 C T 5: 30,544,707 probably benign Het
Cilp2 T C 8: 69,884,320 T280A probably benign Het
Coq5 T A 5: 115,294,817 probably benign Het
Cyth3 A G 5: 143,707,437 I339V possibly damaging Het
Dcaf7 T C 11: 106,046,692 V47A possibly damaging Het
Dcdc2c A G 12: 28,535,545 I151T probably benign Het
Defb7 T A 8: 19,497,662 F61Y probably benign Het
Diaph3 T A 14: 86,866,630 K773* probably null Het
Dmxl1 A G 18: 49,859,120 N311S probably damaging Het
Dnah7b G A 1: 46,119,298 R347H possibly damaging Het
Egflam C T 15: 7,289,796 V234I probably benign Het
Emilin3 C T 2: 160,909,149 V180M possibly damaging Het
Fam76b A T 9: 13,828,821 E50V probably null Het
Fat3 A T 9: 16,377,562 Y222N probably damaging Het
Grm7 A G 6: 111,254,020 N468S probably damaging Het
Gucy1a2 G T 9: 3,634,471 G172C probably damaging Het
Hmcn1 A C 1: 150,675,974 probably null Het
Hydin G A 8: 110,598,959 V4667M possibly damaging Het
Idh2 T C 7: 80,095,670 S408G probably benign Het
Kcng4 T C 8: 119,633,082 Q185R probably benign Het
Lamp3 A G 16: 19,676,052 V301A probably damaging Het
Lrrc23 T C 6: 124,774,436 N220S probably benign Het
Lrrc41 T A 4: 116,088,835 M249K possibly damaging Het
Ltbp4 T A 7: 27,310,649 D1162V probably damaging Het
Mlh1 T C 9: 111,252,969 I229V probably benign Het
Olfr108 T C 17: 37,446,034 L160P probably damaging Het
Plekhg2 T A 7: 28,362,917 D525V probably damaging Het
Plin4 T C 17: 56,105,108 K641R probably damaging Het
Plxnb2 A G 15: 89,161,222 probably null Het
Polr1a T C 6: 71,931,696 S502P possibly damaging Het
Prss16 A G 13: 22,003,050 V450A probably benign Het
Prss42 G A 9: 110,799,390 V201M probably damaging Het
Pus7 A T 5: 23,754,556 N322K probably damaging Het
Riok1 G T 13: 38,040,065 probably benign Het
Rmdn3 T A 2: 119,154,080 T64S probably benign Het
Rtbdn C T 8: 84,955,089 R170C probably damaging Het
Sesn3 T C 9: 14,314,734 probably null Het
Slc2a6 A G 2: 27,024,293 Y271H probably benign Het
Slc5a5 T G 8: 70,892,517 T49P probably damaging Het
Slc7a10 T C 7: 35,195,168 V84A possibly damaging Het
Slc9a4 A G 1: 40,584,044 T148A possibly damaging Het
Smg1 T A 7: 118,167,955 probably benign Het
Snx19 T A 9: 30,428,364 V266E probably damaging Het
Synm T A 7: 67,735,056 I511F probably damaging Het
Tango6 T A 8: 106,742,010 probably benign Het
Tie1 T A 4: 118,486,282 D128V probably damaging Het
Timeless T C 10: 128,244,251 L423P probably damaging Het
Tln1 A G 4: 43,555,679 L145P probably damaging Het
Tmem8 A G 17: 26,119,120 Y466C probably damaging Het
Trp53i13 A T 11: 77,508,295 D376E probably damaging Het
Ubr4 A T 4: 139,417,331 I1484F probably damaging Het
Unc13a C T 8: 71,649,910 V943M probably damaging Het
Usp50 T C 2: 126,769,902 K301R probably damaging Het
Vmn1r62 G T 7: 5,676,203 M294I probably benign Het
Vps39 A G 2: 120,323,171 probably benign Het
Vwa8 T A 14: 79,103,700 probably benign Het
Wdr27 A T 17: 14,876,176 W748R possibly damaging Het
Other mutations in Rmnd5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03264:Rmnd5a APN 6 71393135 missense probably damaging 0.99
R0046:Rmnd5a UTSW 6 71399231 missense probably damaging 0.98
R0046:Rmnd5a UTSW 6 71399231 missense probably damaging 0.98
R1295:Rmnd5a UTSW 6 71398455 missense probably benign 0.45
R1296:Rmnd5a UTSW 6 71398455 missense probably benign 0.45
R1840:Rmnd5a UTSW 6 71398455 missense probably benign 0.45
R3149:Rmnd5a UTSW 6 71429101 missense probably benign 0.02
R3735:Rmnd5a UTSW 6 71396862 missense possibly damaging 0.75
R3736:Rmnd5a UTSW 6 71396862 missense possibly damaging 0.75
R4459:Rmnd5a UTSW 6 71396881 missense probably damaging 0.98
R4532:Rmnd5a UTSW 6 71399125 critical splice donor site probably null
R4782:Rmnd5a UTSW 6 71413349 missense probably damaging 0.98
R5587:Rmnd5a UTSW 6 71394619 splice site probably benign
R6442:Rmnd5a UTSW 6 71394675 nonsense probably null
Posted On 2015-12-18