Incidental Mutation 'R1217:Rec114'
ID 99751
Institutional Source Beutler Lab
Gene Symbol Rec114
Ensembl Gene ENSMUSG00000074269
Gene Name REC114 meiotic recombination protein
Synonyms 4930527A11Rik, 2410076I21Rik
MMRRC Submission 039286-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R1217 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 58560133-58651247 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 58573103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098674] [ENSMUST00000186960]
AlphaFold Q9CWH4
Predicted Effect probably benign
Transcript: ENSMUST00000098674
SMART Domains Protein: ENSMUSP00000096271
Gene: ENSMUSG00000074269

DomainStartEndE-ValueType
Pfam:REC114-like 20 254 6.5e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187632
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.6%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is orthologous to the mouse meiotic recombination protein REC114, which is involved in DNA double-strand break formation during meiosis. The encoded protein is conserved in most eukaryotes and was first discovered and characterized in yeast. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2a A T 10: 75,169,049 (GRCm39) Y171F probably damaging Het
Agpat4 C T 17: 12,429,203 (GRCm39) R152W probably damaging Het
Aldh1a2 A G 9: 71,188,964 (GRCm39) N293D possibly damaging Het
Ash2l T C 8: 26,312,913 (GRCm39) N441S probably damaging Het
Asrgl1 A T 19: 9,093,864 (GRCm39) probably null Het
Capn3 C A 2: 120,316,902 (GRCm39) S277* probably null Het
Ccdc168 A T 1: 44,096,339 (GRCm39) S1586R possibly damaging Het
Ccp110 T C 7: 118,329,167 (GRCm39) probably benign Het
Cdh17 T C 4: 11,799,676 (GRCm39) V491A probably benign Het
Cep170b T C 12: 112,707,339 (GRCm39) S362P probably damaging Het
Cfap57 A G 4: 118,463,849 (GRCm39) S335P possibly damaging Het
Cmklr1 A T 5: 113,752,107 (GRCm39) L298Q probably damaging Het
Col4a4 A T 1: 82,466,730 (GRCm39) probably null Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cyp2d26 A G 15: 82,677,068 (GRCm39) probably benign Het
Cyth3 T C 5: 143,688,575 (GRCm39) Y240H probably damaging Het
Dhx9 G A 1: 153,334,109 (GRCm39) T1017I probably damaging Het
Edar T C 10: 58,464,453 (GRCm39) Y62C probably damaging Het
Esyt3 C T 9: 99,200,097 (GRCm39) G699D possibly damaging Het
Fgb T C 3: 82,950,564 (GRCm39) T397A probably damaging Het
Foxc1 C A 13: 31,992,668 (GRCm39) A493E unknown Het
Grid1 T C 14: 34,542,186 (GRCm39) M1T probably null Het
Ipo4 T C 14: 55,871,816 (GRCm39) K113R probably damaging Het
Kif21b A G 1: 136,080,114 (GRCm39) E550G probably damaging Het
Krt1 T C 15: 101,757,416 (GRCm39) K265E possibly damaging Het
Lmx1a G A 1: 167,618,968 (GRCm39) R109H probably damaging Het
Mcm5 A G 8: 75,852,919 (GRCm39) K677R probably benign Het
Metap1 A T 3: 138,180,791 (GRCm39) L130* probably null Het
Mrgpra4 A G 7: 47,631,085 (GRCm39) L172P probably benign Het
Mylip G A 13: 45,560,178 (GRCm39) E205K probably damaging Het
Myo3b A C 2: 70,161,224 (GRCm39) E1128A probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Nlrp4d T C 7: 10,098,194 (GRCm39) I823V probably benign Het
Odad1 C T 7: 45,592,182 (GRCm39) probably benign Het
Rimbp2 C T 5: 128,865,351 (GRCm39) A666T probably benign Het
Siva1 C T 12: 112,613,355 (GRCm39) Q68* probably null Het
Slc22a27 T A 19: 7,904,033 (GRCm39) I35F probably benign Het
Slco1a5 T A 6: 142,200,100 (GRCm39) N228I probably damaging Het
St8sia4 G A 1: 95,581,464 (GRCm39) R93C probably damaging Het
Tprg1 T C 16: 25,231,593 (GRCm39) S190P probably damaging Het
Trpc6 A G 9: 8,658,287 (GRCm39) probably null Het
Vmn2r70 C T 7: 85,208,269 (GRCm39) C736Y probably damaging Het
Zfp629 C T 7: 127,211,916 (GRCm39) probably benign Het
Zswim4 A G 8: 84,946,601 (GRCm39) V685A possibly damaging Het
Other mutations in Rec114
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4453001:Rec114 UTSW 9 58,567,653 (GRCm39) missense probably benign 0.00
R0365:Rec114 UTSW 9 58,648,822 (GRCm39) missense probably benign 0.00
R0441:Rec114 UTSW 9 58,565,053 (GRCm39) missense probably benign 0.06
R1732:Rec114 UTSW 9 58,560,389 (GRCm39) missense probably damaging 0.98
R2061:Rec114 UTSW 9 58,560,188 (GRCm39) utr 3 prime probably benign
R2444:Rec114 UTSW 9 58,567,602 (GRCm39) missense probably damaging 1.00
R5405:Rec114 UTSW 9 58,567,624 (GRCm39) missense probably benign 0.02
R8025:Rec114 UTSW 9 58,567,605 (GRCm39) missense possibly damaging 0.56
R9195:Rec114 UTSW 9 58,567,534 (GRCm39) missense probably benign 0.01
R9335:Rec114 UTSW 9 58,565,041 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- TAAGCAGACACACTGTGCCAGC -3'
(R):5'- GGTCACTTCGGCAAATCTGGAAGC -3'

Sequencing Primer
(F):5'- TCCCAGTGCTCAGAGCAG -3'
(R):5'- AAGCCGGTCTTTAAATGAGTGC -3'
Posted On 2014-01-15