Incidental Mutation 'R4459:Rmnd5a'
ID 330056
Institutional Source Beutler Lab
Gene Symbol Rmnd5a
Ensembl Gene ENSMUSG00000002222
Gene Name required for meiotic nuclear division 5 homolog A
Synonyms 1110007A06Rik, Gid2
MMRRC Submission 041579-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # R4459 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 71365618-71417621 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 71373865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 310 (G310R)
Ref Sequence ENSEMBL: ENSMUSP00000002292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002292]
AlphaFold Q80YQ8
Predicted Effect probably damaging
Transcript: ENSMUST00000002292
AA Change: G310R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002292
Gene: ENSMUSG00000002222
AA Change: G310R

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: G136R
SMART Domains Protein: ENSMUSP00000115130
Gene: ENSMUSG00000002222
AA Change: G136R

DomainStartEndE-ValueType
CRA 35 129 7.07e-17 SMART
Pfam:zf-RING_UBOX 163 202 4e-20 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 C T 14: 118,836,805 (GRCm39) R652Q probably benign Het
Anks1b G A 10: 90,346,706 (GRCm39) V669I probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ash1l G A 3: 88,873,541 (GRCm39) R108Q probably damaging Het
BC049715 G A 6: 136,817,050 (GRCm39) A97T probably damaging Het
Cyp11b1 T A 15: 74,708,208 (GRCm39) E422D probably damaging Het
Dmxl1 A T 18: 50,094,283 (GRCm39) I2920F possibly damaging Het
Dnaaf6rt A G 1: 31,262,405 (GRCm39) D129G probably damaging Het
Efcab6 C T 15: 83,788,490 (GRCm39) G935S probably damaging Het
Esp3 C G 17: 40,944,478 (GRCm39) T40S probably null Het
Gc T C 5: 89,589,146 (GRCm39) M206V probably benign Het
Gm15446 A T 5: 110,091,107 (GRCm39) H453L probably benign Het
Hes6 A G 1: 91,340,061 (GRCm39) S132P probably damaging Het
Ighg2b T C 12: 113,270,578 (GRCm39) Y184C unknown Het
Itga2 C G 13: 114,980,019 (GRCm39) D1061H probably damaging Het
Kcnj5 A G 9: 32,233,691 (GRCm39) I208T probably damaging Het
Klhl26 T C 8: 70,904,194 (GRCm39) Y538C probably damaging Het
Letm2 A G 8: 26,076,715 (GRCm39) C296R probably damaging Het
Lrfn4 C T 19: 4,662,662 (GRCm39) V452I probably benign Het
Mypn A G 10: 63,028,211 (GRCm39) V284A probably damaging Het
Or14j9 G A 17: 37,874,365 (GRCm39) T279I probably damaging Het
Or2y1e A T 11: 49,218,703 (GRCm39) N155I probably damaging Het
Or5aq1 T C 2: 86,966,005 (GRCm39) H220R probably benign Het
Or8c20 T A 9: 38,261,288 (GRCm39) V297D probably damaging Het
Pcdhgb6 C T 18: 37,875,759 (GRCm39) P156S probably benign Het
Pou2f1 A G 1: 165,722,575 (GRCm39) F337L probably damaging Het
Prl7a2 A G 13: 27,849,979 (GRCm39) V31A probably benign Het
Rasal2 A G 1: 157,003,402 (GRCm39) F419S possibly damaging Het
Rrm2b T A 15: 37,945,397 (GRCm39) probably null Het
Smg8 T C 11: 86,976,396 (GRCm39) D395G probably benign Het
Snx30 A T 4: 59,885,022 (GRCm39) R221* probably null Het
Tyk2 T C 9: 21,035,711 (GRCm39) E157G probably damaging Het
Wdr90 T A 17: 26,079,976 (GRCm39) T120S possibly damaging Het
Zfp747l1 A G 7: 126,983,917 (GRCm39) L395P probably damaging Het
Zfp804b A T 5: 6,821,481 (GRCm39) D491E probably damaging Het
Other mutations in Rmnd5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02892:Rmnd5a APN 6 71,391,798 (GRCm39) missense probably benign 0.00
IGL03264:Rmnd5a APN 6 71,370,119 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TTAACCCTCCGGCATCTGTG -3'
(R):5'- CCTAGGGTTATGTGACAGTGC -3'

Sequencing Primer
(F):5'- GTGCTGAGACTAGACTCAAAGCTTC -3'
(R):5'- CTAGGGTTATGTGACAGTGCTAGAAG -3'
Posted On 2015-07-21