Incidental Mutation 'R2444:Rec114'
ID 249920
Institutional Source Beutler Lab
Gene Symbol Rec114
Ensembl Gene ENSMUSG00000074269
Gene Name REC114 meiotic recombination protein
Synonyms 4930527A11Rik, 2410076I21Rik
MMRRC Submission 040402-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R2444 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 58560133-58651247 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 58567602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 128 (A128E)
Ref Sequence ENSEMBL: ENSMUSP00000096271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098674] [ENSMUST00000176916]
AlphaFold Q9CWH4
Predicted Effect probably damaging
Transcript: ENSMUST00000098674
AA Change: A128E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096271
Gene: ENSMUSG00000074269
AA Change: A128E

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 possibly damaging
Transcript: ENSMUST00000186592
AA Change: A16E

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187632
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A T 10: 78,904,561 (GRCm39) D112E possibly damaging Het
Abca15 A G 7: 119,965,120 (GRCm39) Y794C probably damaging Het
Bicd2 T C 13: 49,532,500 (GRCm39) V362A probably benign Het
Cep126 G A 9: 8,101,307 (GRCm39) T409M probably damaging Het
Cep131 A G 11: 119,961,321 (GRCm39) F610S probably damaging Het
Cfap61 T C 2: 145,877,239 (GRCm39) probably null Het
Chd1l A G 3: 97,497,882 (GRCm39) Y320H probably damaging Het
Dnajc30 A G 5: 135,093,439 (GRCm39) D112G probably damaging Het
Dync2i1 T C 12: 116,196,289 (GRCm39) D486G possibly damaging Het
Fam184a A C 10: 53,517,045 (GRCm39) L410R probably damaging Het
Fat2 T C 11: 55,172,799 (GRCm39) N2638S probably damaging Het
Fgf15 A G 7: 144,453,429 (GRCm39) D134G probably benign Het
Flywch2 A T 17: 23,996,024 (GRCm39) S124R possibly damaging Het
Gabra5 G A 7: 57,058,623 (GRCm39) T375I probably benign Het
Gpat3 C T 5: 101,005,039 (GRCm39) P58L probably benign Het
Hltf T A 3: 20,118,071 (GRCm39) N44K possibly damaging Het
Hoatz A G 9: 51,011,298 (GRCm39) probably null Het
Kcnb2 A T 1: 15,779,791 (GRCm39) N221I probably benign Het
Marco G A 1: 120,422,499 (GRCm39) T61M probably damaging Het
Med13 A G 11: 86,222,786 (GRCm39) I180T probably damaging Het
Mei1 C T 15: 81,997,142 (GRCm39) T626M probably damaging Het
Mtnr1a C T 8: 45,540,695 (GRCm39) Q219* probably null Het
Nav3 A G 10: 109,600,776 (GRCm39) S1284P probably benign Het
Or1j10 T C 2: 36,267,625 (GRCm39) V279A possibly damaging Het
Or7g30 T A 9: 19,352,311 (GRCm39) I34K possibly damaging Het
Pcdh9 T A 14: 94,124,227 (GRCm39) T648S probably benign Het
Proz A T 8: 13,111,027 (GRCm39) probably benign Het
Rspry1 G T 8: 95,349,735 (GRCm39) G41V probably damaging Het
Sbf2 A T 7: 109,929,905 (GRCm39) M1388K probably benign Het
Spice1 C T 16: 44,186,931 (GRCm39) Q143* probably null Het
Tcstv3 A T 13: 120,779,365 (GRCm39) K88M probably damaging Het
Terb2 T A 2: 122,023,788 (GRCm39) probably null Het
Tmx3 A T 18: 90,558,307 (GRCm39) K453M probably damaging Het
Tnc T C 4: 63,933,200 (GRCm39) Y688C probably damaging Het
Tshz2 T G 2: 169,726,726 (GRCm39) S441A probably benign Het
Usp45 A T 4: 21,817,528 (GRCm39) M399L probably benign Het
Vmn2r82 A T 10: 79,213,702 (GRCm39) H96L possibly damaging Het
Wls G A 3: 159,612,867 (GRCm39) R261Q probably 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
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'- ACGCTCCGAGTTATCAGCAC -3'
(R):5'- CATCCAGTTTGCTAGTGTCATTGC -3'

Sequencing Primer
(F):5'- GAGTTATCAGCACTCACCCCCTG -3'
(R):5'- GTCATTGCCTGGGGGAAATAAATTC -3'
Posted On 2014-11-12