Incidental Mutation 'R7260:Rmnd1'
ID 580596
Institutional Source Beutler Lab
Gene Symbol Rmnd1
Ensembl Gene ENSMUSG00000019763
Gene Name required for meiotic nuclear division 1 homolog
Synonyms 0610042C05Rik
MMRRC Submission 045352-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.603) question?
Stock # R7260 (G1)
Quality Score 131.008
Status Validated
Chromosome 10
Chromosomal Location 4353168-4382583 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 4364803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000043355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042251]
AlphaFold Q8CI78
Predicted Effect probably null
Transcript: ENSMUST00000042251
SMART Domains Protein: ENSMUSP00000043355
Gene: ENSMUSG00000019763

DomainStartEndE-ValueType
Pfam:DUF155 227 404 3.2e-49 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (78/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A G 10: 28,849,882 (GRCm39) S293P probably benign Het
Actn2 T C 13: 12,291,376 (GRCm39) N676S probably benign Het
Amfr C T 8: 94,702,776 (GRCm39) M463I possibly damaging Het
Ankdd1a G T 9: 65,411,834 (GRCm39) A325D probably damaging Het
Apba2 A G 7: 64,389,493 (GRCm39) D463G probably damaging Het
Arid5b A G 10: 67,933,637 (GRCm39) V755A probably damaging Het
Boc A T 16: 44,310,533 (GRCm39) F796I Het
Ccnt1 G A 15: 98,463,005 (GRCm39) Q56* probably null Het
Cd248 T A 19: 5,119,383 (GRCm39) Y410* probably null Het
Chd9 T A 8: 91,721,171 (GRCm39) N986K unknown Het
Col6a6 T C 9: 105,661,168 (GRCm39) T314A probably benign Het
Cpped1 A G 16: 11,646,327 (GRCm39) F142L possibly damaging Het
Csmd1 C T 8: 16,050,574 (GRCm39) A2221T probably damaging Het
Cyp2c69 C A 19: 39,831,344 (GRCm39) V490L probably benign Het
Cyrib A T 15: 63,829,438 (GRCm39) F23L possibly damaging Het
Dcst2 T C 3: 89,273,593 (GRCm39) F157S probably damaging Het
Ddx54 G T 5: 120,764,985 (GRCm39) R788L probably benign Het
Dnah1 T C 14: 30,991,343 (GRCm39) Y3145C probably damaging Het
Dnah14 A T 1: 181,534,309 (GRCm39) R2320W probably damaging Het
Dnai3 T A 3: 145,752,295 (GRCm39) M794L probably benign Het
Emilin2 T C 17: 71,581,785 (GRCm39) T314A probably benign Het
Eml2 A G 7: 18,934,515 (GRCm39) S405G probably benign Het
Ephb2 A G 4: 136,498,885 (GRCm39) F65L probably damaging Het
Fbn2 T C 18: 58,199,188 (GRCm39) D1360G probably benign Het
Fbxo22 A G 9: 55,125,754 (GRCm39) T206A probably benign Het
Filip1l A G 16: 57,391,287 (GRCm39) E625G probably damaging Het
Gen1 A C 12: 11,306,849 (GRCm39) M172R probably damaging Het
Gk5 A G 9: 96,001,663 (GRCm39) K54E probably benign Het
Glis3 T C 19: 28,508,802 (GRCm39) E394G probably benign Het
Helq T A 5: 100,939,793 (GRCm39) E373D probably damaging Het
Ighv1-74 A G 12: 115,766,372 (GRCm39) F83L probably benign Het
Ints15 A G 5: 143,297,594 (GRCm39) V151A probably benign Het
Iqcn T C 8: 71,161,397 (GRCm39) Y197H probably benign Het
Kdm4d T C 9: 14,374,454 (GRCm39) D468G probably benign Het
Kif20b A G 19: 34,927,610 (GRCm39) I957M probably damaging Het
Ldhal6b A G 17: 5,468,535 (GRCm39) F133S possibly damaging Het
Loxhd1 T C 18: 77,420,338 (GRCm39) Y321H possibly damaging Het
Ltbp1 A T 17: 75,373,139 (GRCm39) M261L probably benign Het
Mical2 A T 7: 111,919,001 (GRCm39) Q430L probably benign Het
Mroh4 A T 15: 74,479,978 (GRCm39) N885K possibly damaging Het
Ms4a7 A G 19: 11,299,710 (GRCm39) Y231H probably damaging Het
Msh2 G T 17: 88,025,047 (GRCm39) V642F probably damaging Het
Muc5b G T 7: 141,396,385 (GRCm39) A166S unknown Het
Myo18b T C 5: 112,923,154 (GRCm39) I1868V probably benign Het
Nfatc3 T C 8: 106,835,578 (GRCm39) S975P probably benign Het
Oacyl T C 18: 65,831,438 (GRCm39) L25P probably damaging Het
Or12e10 A G 2: 87,640,731 (GRCm39) N189S probably damaging Het
Or5b109 T C 19: 13,212,388 (GRCm39) F258S probably damaging Het
Or5w15 T C 2: 87,568,852 (GRCm39) probably null Het
Or6c69 T A 10: 129,748,156 (GRCm39) probably benign Het
Or8a1 T A 9: 37,642,049 (GRCm39) I77F probably damaging Het
Patj A G 4: 98,304,970 (GRCm39) I275V possibly damaging Het
Pdcd11 G A 19: 47,117,673 (GRCm39) R1674Q possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phkb T A 8: 86,604,759 (GRCm39) Y55N probably benign Het
Pias4 A G 10: 80,993,302 (GRCm39) V207A possibly damaging Het
Plxna4 C A 6: 32,216,455 (GRCm39) R540L possibly damaging Het
Psapl1 G A 5: 36,362,556 (GRCm39) V383M probably benign Het
Rars1 C A 11: 35,725,281 (GRCm39) A10S probably benign Het
Rhobtb1 A T 10: 69,106,610 (GRCm39) K454* probably null Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Rngtt T C 4: 33,356,176 (GRCm39) S338P possibly damaging Het
Sh3bgr A G 16: 96,025,681 (GRCm39) E189G unknown Het
Slc30a3 G A 5: 31,245,690 (GRCm39) T281I probably damaging Het
Smok3c T A 5: 138,063,885 (GRCm39) D457E possibly damaging Het
Stard9 C A 2: 120,537,419 (GRCm39) Q4274K possibly damaging Het
Syne2 G T 12: 75,991,853 (GRCm39) L1938F probably damaging Het
Tmem70 C A 1: 16,735,590 (GRCm39) T20K possibly damaging Het
Tnrc6a A G 7: 122,785,813 (GRCm39) E1502G probably benign Het
Tpp1 A T 7: 105,396,704 (GRCm39) S438T probably benign Het
Tubb2a T A 13: 34,259,397 (GRCm39) Q131L probably damaging Het
Ube2v1 A G 2: 167,471,114 (GRCm39) S26P probably benign Het
Unc13a G T 8: 72,113,229 (GRCm39) S207R possibly damaging Het
Usp35 T G 7: 96,969,286 (GRCm39) D362A probably damaging Het
Utp20 A G 10: 88,587,334 (GRCm39) I2487T probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r117 T A 17: 23,694,359 (GRCm39) H496L probably benign Het
Vmn2r92 C T 17: 18,387,138 (GRCm39) A159V probably damaging Het
Wiz T C 17: 32,578,085 (GRCm39) K467E probably damaging Het
Zfp534 T C 4: 147,759,461 (GRCm39) T403A probably benign Het
Zswim5 T C 4: 116,819,843 (GRCm39) L416P probably damaging Het
Other mutations in Rmnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:Rmnd1 APN 10 4,377,290 (GRCm39) missense probably benign 0.43
IGL01018:Rmnd1 APN 10 4,377,392 (GRCm39) missense probably benign
IGL01112:Rmnd1 APN 10 4,360,793 (GRCm39) splice site probably null
R0418:Rmnd1 UTSW 10 4,377,693 (GRCm39) critical splice acceptor site probably null
R2036:Rmnd1 UTSW 10 4,357,884 (GRCm39) missense probably damaging 1.00
R2312:Rmnd1 UTSW 10 4,377,466 (GRCm39) missense probably benign
R2319:Rmnd1 UTSW 10 4,372,099 (GRCm39) missense possibly damaging 0.62
R4191:Rmnd1 UTSW 10 4,360,809 (GRCm39) unclassified probably benign
R5077:Rmnd1 UTSW 10 4,377,488 (GRCm39) missense possibly damaging 0.66
R5620:Rmnd1 UTSW 10 4,372,159 (GRCm39) missense probably damaging 1.00
R5659:Rmnd1 UTSW 10 4,377,382 (GRCm39) missense probably benign 0.04
R6291:Rmnd1 UTSW 10 4,372,135 (GRCm39) missense probably damaging 1.00
R7089:Rmnd1 UTSW 10 4,353,873 (GRCm39) missense probably damaging 1.00
R7214:Rmnd1 UTSW 10 4,360,753 (GRCm39) missense probably benign
R7540:Rmnd1 UTSW 10 4,353,989 (GRCm39) missense probably damaging 1.00
R7599:Rmnd1 UTSW 10 4,363,404 (GRCm39) missense probably benign 0.11
R7719:Rmnd1 UTSW 10 4,377,496 (GRCm39) missense probably benign
R7777:Rmnd1 UTSW 10 4,361,713 (GRCm39) missense probably damaging 1.00
R7809:Rmnd1 UTSW 10 4,357,848 (GRCm39) missense probably damaging 1.00
R8397:Rmnd1 UTSW 10 4,377,278 (GRCm39) nonsense probably null
R8993:Rmnd1 UTSW 10 4,357,918 (GRCm39) missense probably benign 0.40
R9058:Rmnd1 UTSW 10 4,363,398 (GRCm39) missense probably benign 0.05
X0026:Rmnd1 UTSW 10 4,377,676 (GRCm39) start codon destroyed probably null 0.99
Predicted Primers PCR Primer
(F):5'- CACGTGCTTCATCTAGGAGAG -3'
(R):5'- GGGACCATTTTCTAGACCTTCG -3'

Sequencing Primer
(F):5'- AGAAGGGCATTCGCTTGC -3'
(R):5'- TAAACTCTACTGTTAGGAGTG -3'
Posted On 2019-10-10