Incidental Mutation 'R5405:Rec114'
ID 428676
Institutional Source Beutler Lab
Gene Symbol Rec114
Ensembl Gene ENSMUSG00000074269
Gene Name REC114 meiotic recombination protein
Synonyms 4930527A11Rik, 2410076I21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R5405 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 58560133-58651247 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58567624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 121 (S121G)
Ref Sequence ENSEMBL: ENSMUSP00000096271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098674] [ENSMUST00000176916]
AlphaFold Q9CWH4
Predicted Effect probably benign
Transcript: ENSMUST00000098674
AA Change: S121G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000096271
Gene: ENSMUSG00000074269
AA Change: S121G

DomainStartEndE-ValueType
Pfam:REC114-like 20 254 6.5e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175792
Predicted Effect probably benign
Transcript: ENSMUST00000176916
SMART Domains Protein: ENSMUSP00000134977
Gene: ENSMUSG00000032336

DomainStartEndE-ValueType
IGc2 23 96 2.34e-4 SMART
transmembrane domain 111 133 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000186592
AA Change: S9G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187632
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A T 6: 86,078,179 (GRCm39) T298S probably benign Het
Atad2b G A 12: 4,990,098 (GRCm39) R141Q possibly damaging Het
B3glct A G 5: 149,632,818 (GRCm39) Q56R probably damaging Het
Cdc42bpa A G 1: 179,894,894 (GRCm39) Y358C probably damaging Het
Cdc42bpa A G 1: 179,966,085 (GRCm39) E1136G possibly damaging Het
Ceacam1 A T 7: 25,163,290 (GRCm39) N314K probably benign Het
Ces1g A T 8: 94,032,496 (GRCm39) I488N probably benign Het
Chd6 C T 2: 160,807,310 (GRCm39) R1968K probably benign Het
Cyp27b1 C T 10: 126,886,255 (GRCm39) T312I possibly damaging Het
Cyp39a1 C T 17: 43,987,831 (GRCm39) A99V probably damaging Het
Dipk1a C T 5: 108,057,827 (GRCm39) V199I probably benign Het
Dnaaf9 A G 2: 130,554,380 (GRCm39) S890P probably damaging Het
Efcab3 A T 11: 104,612,018 (GRCm39) D620V probably benign Het
Elapor1 A T 3: 108,375,102 (GRCm39) C588* probably null Het
Erc1 A T 6: 119,801,905 (GRCm39) S37R probably damaging Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Gm14443 T C 2: 175,013,644 (GRCm39) I43V possibly damaging Het
Ins2 C T 7: 142,233,134 (GRCm39) R46H probably damaging Het
Krt77 T C 15: 101,769,523 (GRCm39) I413V probably damaging Het
Lpin3 A G 2: 160,745,849 (GRCm39) D660G probably damaging Het
Mpp3 T C 11: 101,901,047 (GRCm39) Q318R probably benign Het
Mpzl2 T C 9: 44,958,503 (GRCm39) S80P probably damaging Het
Mrpl2 T C 17: 46,960,036 (GRCm39) probably null Het
Mrpl48 T C 7: 100,209,000 (GRCm39) Y108C probably damaging Het
Ndufaf7 C A 17: 79,246,044 (GRCm39) F92L probably damaging Het
Or14c43 T C 7: 86,115,383 (GRCm39) Y255H probably damaging Het
Or6c8 T A 10: 128,915,265 (GRCm39) D189V probably damaging Het
Rnase10 A T 14: 51,247,317 (GRCm39) I195F probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rreb1 A G 13: 38,133,087 (GRCm39) E1754G probably damaging Het
Sec31a G T 5: 100,531,657 (GRCm39) C238* probably null Het
Slc12a6 T C 2: 112,169,724 (GRCm39) V337A probably damaging Het
Slc25a37 A G 14: 69,482,344 (GRCm39) V319A possibly damaging Het
Slc26a10 T C 10: 127,010,864 (GRCm39) Y456C probably benign Het
Slc27a3 G A 3: 90,294,382 (GRCm39) T463I probably benign Het
Slc66a3 A G 12: 17,043,315 (GRCm39) probably benign Het
Stard9 T A 2: 120,524,149 (GRCm39) D781E probably benign Het
Tle1 T C 4: 72,057,208 (GRCm39) probably benign Het
Tmem229b-ps T C 10: 53,351,325 (GRCm39) noncoding transcript Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r71 A G 7: 85,268,622 (GRCm39) D275G probably benign Het
Wdr1 T C 5: 38,692,543 (GRCm39) T121A probably benign Het
Zdhhc19 C T 16: 32,325,869 (GRCm39) R240C 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
R1217:Rec114 UTSW 9 58,573,103 (GRCm39) unclassified probably benign
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
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'- CTCCGAGTTATCAGCACTCAC -3'
(R):5'- ACCATCCAGTTTGCTAGTGTC -3'

Sequencing Primer
(F):5'- GAGTTATCAGCACTCACCCCCTG -3'
(R):5'- GTCATTGCCTGGGGGAAATAAATTC -3'
Posted On 2016-09-06