Incidental Mutation 'R0441:Rec114'
ID 39168
Institutional Source Beutler Lab
Gene Symbol Rec114
Ensembl Gene ENSMUSG00000074269
Gene Name REC114 meiotic recombination protein
Synonyms 4930527A11Rik, 2410076I21Rik
MMRRC Submission 038642-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R0441 (G1)
Quality Score 127
Status Validated
Chromosome 9
Chromosomal Location 58560133-58651247 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58565053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 201 (T201I)
Ref Sequence ENSEMBL: ENSMUSP00000096271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085651] [ENSMUST00000098674] [ENSMUST00000176250] [ENSMUST00000176557] [ENSMUST00000176916]
AlphaFold Q9CWH4
Predicted Effect probably benign
Transcript: ENSMUST00000085651
SMART Domains Protein: ENSMUSP00000082793
Gene: ENSMUSG00000032336

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 38 118 1.1e-3 SMART
IGc2 133 206 9.3e-7 SMART
transmembrane domain 221 243 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098674
AA Change: T201I

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000096271
Gene: ENSMUSG00000074269
AA Change: T201I

DomainStartEndE-ValueType
Pfam:REC114-like 20 254 6.5e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175792
Predicted Effect probably benign
Transcript: ENSMUST00000176250
SMART Domains Protein: ENSMUSP00000135250
Gene: ENSMUSG00000032336

DomainStartEndE-ValueType
IGc2 23 96 2.34e-4 SMART
transmembrane domain 111 133 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176557
SMART Domains Protein: ENSMUSP00000135541
Gene: ENSMUSG00000032336

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 38 118 2.56e-1 SMART
IGc2 133 206 2.34e-4 SMART
transmembrane domain 221 243 N/A INTRINSIC
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 noncoding transcript
Transcript: ENSMUST00000187632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177020
Predicted Effect probably benign
Transcript: ENSMUST00000186592
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 100% (71/71)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,689 (GRCm39) probably benign Het
Adgrv1 G A 13: 81,545,345 (GRCm39) R5647* probably null Het
Agbl2 C T 2: 90,627,827 (GRCm39) R211* probably null Het
Akap9 A G 5: 4,011,714 (GRCm39) K806E probably benign Het
Ampd1 C G 3: 102,995,794 (GRCm39) L235V probably benign Het
Atcay T C 10: 81,060,294 (GRCm39) D14G possibly damaging Het
Atp8b4 C T 2: 126,220,626 (GRCm39) probably benign Het
Bmp8b T C 4: 123,018,308 (GRCm39) V393A probably damaging Het
Brca2 T A 5: 150,465,322 (GRCm39) D1695E probably damaging Het
Cdh15 A G 8: 123,587,705 (GRCm39) I210V probably damaging Het
Cep250 T C 2: 155,813,924 (GRCm39) L564P possibly damaging Het
Cmpk1 T C 4: 114,822,220 (GRCm39) T110A probably benign Het
Cpsf3 T G 12: 21,350,085 (GRCm39) I268S probably damaging Het
Csmd2 C T 4: 128,414,023 (GRCm39) A2621V probably benign Het
Cyp2c40 T C 19: 39,795,607 (GRCm39) probably benign Het
D430041D05Rik T A 2: 103,998,292 (GRCm39) Y1837F probably damaging Het
Degs2 A G 12: 108,668,469 (GRCm39) F10S probably damaging Het
Dytn T A 1: 63,717,933 (GRCm39) probably benign Het
Elfn2 G C 15: 78,557,795 (GRCm39) P251A probably benign Het
Epg5 T C 18: 78,066,486 (GRCm39) probably benign Het
Evc2 A G 5: 37,574,811 (GRCm39) D1022G probably damaging Het
Fat3 A G 9: 15,856,304 (GRCm39) probably benign Het
Fbn1 A T 2: 125,151,675 (GRCm39) probably null Het
Gm15217 T C 14: 46,620,676 (GRCm39) probably null Het
Gm17611 A T 13: 50,130,435 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,146,303 (GRCm39) W182* probably null Het
Gsc T C 12: 104,439,353 (GRCm39) I8V probably damaging Het
Hck A G 2: 152,976,052 (GRCm39) K197R probably benign Het
Kat6b T C 14: 21,720,301 (GRCm39) L1551P probably damaging Het
Lrch1 C T 14: 75,184,985 (GRCm39) G39D possibly damaging Het
Macf1 T C 4: 123,259,148 (GRCm39) probably null Het
Mroh9 A T 1: 162,888,331 (GRCm39) V248E probably damaging Het
Mrps15 C A 4: 125,945,210 (GRCm39) probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ndufa5 T C 6: 24,522,750 (GRCm39) T31A probably benign Het
Nfyb A G 10: 82,586,594 (GRCm39) V190A possibly damaging Het
Nos2 A G 11: 78,819,409 (GRCm39) I40M probably benign Het
Or2f2 T C 6: 42,767,108 (GRCm39) I45T probably damaging Het
Or5ar1 A T 2: 85,671,859 (GRCm39) I92N probably damaging Het
Or8k37 A T 2: 86,469,674 (GRCm39) I126K probably damaging Het
Otog T C 7: 45,955,301 (GRCm39) S564P probably damaging Het
Pak5 C T 2: 135,958,549 (GRCm39) A180T probably benign Het
Pappa2 T C 1: 158,590,628 (GRCm39) probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Plxnc1 T A 10: 94,632,344 (GRCm39) N1431I probably damaging Het
Prph A T 15: 98,955,319 (GRCm39) I429L probably damaging Het
Prrc2a A G 17: 35,368,664 (GRCm39) probably benign Het
Pwwp3a A T 10: 80,064,859 (GRCm39) N30Y probably damaging Het
Rad54b A T 4: 11,563,394 (GRCm39) T18S probably benign Het
Ranbp2 A G 10: 58,321,590 (GRCm39) E2629G probably benign Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
Sec23b A G 2: 144,423,917 (GRCm39) E522G probably damaging Het
Sgsm3 G A 15: 80,893,971 (GRCm39) R502H possibly damaging Het
Sh3pxd2b C A 11: 32,373,023 (GRCm39) A730D possibly damaging Het
Spag4 A G 2: 155,909,899 (GRCm39) D187G probably damaging Het
Srgap2 G A 1: 131,264,175 (GRCm39) T465I probably damaging Het
St3gal6 G T 16: 58,293,818 (GRCm39) A237E probably damaging Het
St3gal6 C A 16: 58,293,816 (GRCm39) A238S probably damaging Het
Tecpr1 C A 5: 144,132,759 (GRCm39) R1159L probably benign Het
Tmem63b A T 17: 45,977,241 (GRCm39) probably null Het
Tmtc1 T A 6: 148,317,256 (GRCm39) D78V probably damaging Het
Tpp2 A G 1: 44,029,722 (GRCm39) N68D possibly damaging Het
Ttn C A 2: 76,770,269 (GRCm39) A2641S probably benign Het
Uimc1 T C 13: 55,241,032 (GRCm39) K19E probably damaging Het
Utrn T A 10: 12,564,038 (GRCm39) E1274V probably null Het
Vmn2r102 A T 17: 19,914,630 (GRCm39) I732F probably damaging Het
Wrn A T 8: 33,758,778 (GRCm39) M792K probably benign Het
Zfp451 A G 1: 33,816,126 (GRCm39) I608T 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
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
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'- TGACTTCCTCACAGCACATGAAGC -3'
(R):5'- GAGCTAAACTGATAGGCAGCCCAC -3'

Sequencing Primer
(F):5'- CACTGCTAACCTGTGTGATCTAAG -3'
(R):5'- AGGCACCAGAGTTTGACTTC -3'
Posted On 2013-05-23