Incidental Mutation 'R3887:Rreb1'
ID 309707
Institutional Source Beutler Lab
Gene Symbol Rreb1
Ensembl Gene ENSMUSG00000039087
Gene Name ras responsive element binding protein 1
Synonyms 1110037N09Rik, B930013M22Rik
MMRRC Submission 040799-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R3887 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 37962376-38135981 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 38077941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 51 (R51L)
Ref Sequence ENSEMBL: ENSMUSP00000118420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037232] [ENSMUST00000110237] [ENSMUST00000110238] [ENSMUST00000122842] [ENSMUST00000124373] [ENSMUST00000128570] [ENSMUST00000149745] [ENSMUST00000138043] [ENSMUST00000138110]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000037232
AA Change: R51L

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000049265
Gene: ENSMUSG00000039087
AA Change: R51L

DomainStartEndE-ValueType
ZnF_C2H2 66 88 5.14e-3 SMART
ZnF_C2H2 97 119 6.42e-4 SMART
ZnF_C2H2 125 147 3.49e-5 SMART
low complexity region 156 175 N/A INTRINSIC
ZnF_C2H2 206 228 1.01e-1 SMART
ZnF_C2H2 233 256 3.78e-1 SMART
ZnF_C2H2 314 336 2.05e-2 SMART
ZnF_C2H2 641 663 2.71e-2 SMART
ZnF_C2H2 669 691 2.27e-4 SMART
ZnF_C2H2 697 720 5.81e-2 SMART
ZnF_C2H2 751 773 9.44e-2 SMART
ZnF_C2H2 788 811 2.14e0 SMART
low complexity region 916 927 N/A INTRINSIC
low complexity region 968 977 N/A INTRINSIC
low complexity region 995 1003 N/A INTRINSIC
low complexity region 1032 1062 N/A INTRINSIC
low complexity region 1071 1083 N/A INTRINSIC
low complexity region 1119 1146 N/A INTRINSIC
low complexity region 1154 1171 N/A INTRINSIC
ZnF_C2H2 1251 1273 1.5e-4 SMART
ZnF_C2H2 1279 1302 1.01e-1 SMART
low complexity region 1324 1339 N/A INTRINSIC
low complexity region 1370 1403 N/A INTRINSIC
ZnF_C2H2 1454 1476 6.13e-1 SMART
low complexity region 1501 1516 N/A INTRINSIC
low complexity region 1535 1548 N/A INTRINSIC
ZnF_C2H2 1574 1596 2.24e-3 SMART
ZnF_C2H2 1602 1624 4.47e-3 SMART
low complexity region 1636 1651 N/A INTRINSIC
low complexity region 1692 1714 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110237
AA Change: R51L

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105866
Gene: ENSMUSG00000039087
AA Change: R51L

DomainStartEndE-ValueType
ZnF_C2H2 66 88 5.14e-3 SMART
ZnF_C2H2 97 119 6.42e-4 SMART
ZnF_C2H2 125 147 3.49e-5 SMART
low complexity region 156 175 N/A INTRINSIC
ZnF_C2H2 206 228 1.01e-1 SMART
ZnF_C2H2 233 256 3.78e-1 SMART
ZnF_C2H2 314 336 2.05e-2 SMART
ZnF_C2H2 641 663 2.71e-2 SMART
ZnF_C2H2 669 691 2.27e-4 SMART
ZnF_C2H2 697 720 5.81e-2 SMART
ZnF_C2H2 751 773 9.44e-2 SMART
ZnF_C2H2 788 811 2.14e0 SMART
low complexity region 916 927 N/A INTRINSIC
low complexity region 968 977 N/A INTRINSIC
low complexity region 995 1003 N/A INTRINSIC
low complexity region 1032 1062 N/A INTRINSIC
low complexity region 1071 1083 N/A INTRINSIC
low complexity region 1119 1146 N/A INTRINSIC
low complexity region 1154 1171 N/A INTRINSIC
ZnF_C2H2 1251 1273 1.5e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110238
AA Change: R51L

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105867
Gene: ENSMUSG00000039087
AA Change: R51L

DomainStartEndE-ValueType
ZnF_C2H2 66 88 5.14e-3 SMART
ZnF_C2H2 97 119 6.42e-4 SMART
ZnF_C2H2 125 147 3.49e-5 SMART
low complexity region 156 175 N/A INTRINSIC
ZnF_C2H2 206 228 1.01e-1 SMART
ZnF_C2H2 233 256 3.78e-1 SMART
ZnF_C2H2 314 336 2.05e-2 SMART
ZnF_C2H2 641 663 2.71e-2 SMART
ZnF_C2H2 669 691 2.27e-4 SMART
ZnF_C2H2 697 720 5.81e-2 SMART
ZnF_C2H2 751 773 9.44e-2 SMART
ZnF_C2H2 788 811 2.14e0 SMART
low complexity region 916 927 N/A INTRINSIC
low complexity region 968 977 N/A INTRINSIC
low complexity region 995 1003 N/A INTRINSIC
low complexity region 1032 1062 N/A INTRINSIC
low complexity region 1071 1083 N/A INTRINSIC
low complexity region 1119 1146 N/A INTRINSIC
low complexity region 1154 1171 N/A INTRINSIC
ZnF_C2H2 1251 1273 1.5e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124268
Predicted Effect probably damaging
Transcript: ENSMUST00000124373
AA Change: R51L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000128570
AA Change: R51L

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000115599
Gene: ENSMUSG00000039087
AA Change: R51L

DomainStartEndE-ValueType
ZnF_C2H2 66 88 5.14e-3 SMART
ZnF_C2H2 97 119 6.42e-4 SMART
ZnF_C2H2 125 147 3.49e-5 SMART
low complexity region 156 175 N/A INTRINSIC
ZnF_C2H2 206 228 1.01e-1 SMART
ZnF_C2H2 233 256 3.78e-1 SMART
ZnF_C2H2 314 336 2.05e-2 SMART
ZnF_C2H2 641 663 2.71e-2 SMART
ZnF_C2H2 669 691 2.27e-4 SMART
ZnF_C2H2 697 720 5.81e-2 SMART
ZnF_C2H2 751 773 9.44e-2 SMART
ZnF_C2H2 788 811 2.14e0 SMART
low complexity region 916 927 N/A INTRINSIC
low complexity region 968 977 N/A INTRINSIC
low complexity region 995 1003 N/A INTRINSIC
low complexity region 1032 1062 N/A INTRINSIC
low complexity region 1071 1083 N/A INTRINSIC
low complexity region 1119 1146 N/A INTRINSIC
low complexity region 1154 1171 N/A INTRINSIC
ZnF_C2H2 1251 1273 1.5e-4 SMART
ZnF_C2H2 1279 1302 1.01e-1 SMART
low complexity region 1324 1339 N/A INTRINSIC
low complexity region 1370 1403 N/A INTRINSIC
ZnF_C2H2 1454 1476 6.13e-1 SMART
low complexity region 1501 1516 N/A INTRINSIC
low complexity region 1535 1548 N/A INTRINSIC
ZnF_C2H2 1574 1596 2.24e-3 SMART
ZnF_C2H2 1602 1624 4.47e-3 SMART
low complexity region 1636 1651 N/A INTRINSIC
low complexity region 1692 1714 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149745
AA Change: R51L

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121211
Gene: ENSMUSG00000039087
AA Change: R51L

DomainStartEndE-ValueType
ZnF_C2H2 66 88 5.14e-3 SMART
ZnF_C2H2 97 119 6.42e-4 SMART
ZnF_C2H2 125 147 3.49e-5 SMART
low complexity region 156 175 N/A INTRINSIC
ZnF_C2H2 206 228 1.01e-1 SMART
ZnF_C2H2 233 256 3.78e-1 SMART
ZnF_C2H2 314 336 2.05e-2 SMART
ZnF_C2H2 641 663 2.71e-2 SMART
ZnF_C2H2 669 691 2.27e-4 SMART
ZnF_C2H2 697 720 5.81e-2 SMART
ZnF_C2H2 751 773 9.44e-2 SMART
ZnF_C2H2 788 811 2.14e0 SMART
low complexity region 916 927 N/A INTRINSIC
low complexity region 968 977 N/A INTRINSIC
low complexity region 995 1003 N/A INTRINSIC
low complexity region 1032 1062 N/A INTRINSIC
low complexity region 1071 1083 N/A INTRINSIC
low complexity region 1119 1146 N/A INTRINSIC
low complexity region 1154 1171 N/A INTRINSIC
ZnF_C2H2 1251 1273 1.5e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138043
Predicted Effect probably benign
Transcript: ENSMUST00000138110
Meta Mutation Damage Score 0.3070 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (40/40)
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 a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,868,273 (GRCm39) probably null Het
Ankdd1a C A 9: 65,409,530 (GRCm39) G469W probably damaging Het
Ano6 A C 15: 95,792,330 (GRCm39) T65P possibly damaging Het
Arhgap26 G A 18: 39,363,019 (GRCm39) probably null Het
Ccdc175 A G 12: 72,182,822 (GRCm39) I399T possibly damaging Het
Ceacam14 T A 7: 17,548,063 (GRCm39) V51D probably damaging Het
Cerk A T 15: 86,033,532 (GRCm39) I297N possibly damaging Het
Cps1 C A 1: 67,204,659 (GRCm39) T493K possibly damaging Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Efcab14 T A 4: 115,595,857 (GRCm39) M1K probably null Het
Etl4 C T 2: 20,534,772 (GRCm39) Q76* probably null Het
Fmc1 T C 6: 38,516,223 (GRCm39) S90P probably benign Het
Fn1 T C 1: 71,679,465 (GRCm39) Y511C probably damaging Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Hk2 C T 6: 82,711,942 (GRCm39) D548N possibly damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Mapk12 A T 15: 89,019,840 (GRCm39) H122Q possibly damaging Het
Mdfic C T 6: 15,799,710 (GRCm39) T279I probably damaging Het
Mycbp2 A G 14: 103,412,233 (GRCm39) V2580A probably damaging Het
Mylk3 A G 8: 86,078,676 (GRCm39) I476T probably damaging Het
Ncapg G A 5: 45,831,705 (GRCm39) V184I probably benign Het
Or4a71 T A 2: 89,358,076 (GRCm39) H226L possibly damaging Het
Pla2g15 A G 8: 106,887,767 (GRCm39) Y185C probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm45 A G 2: 76,205,768 (GRCm39) S207G probably benign Het
Reln T C 5: 22,115,847 (GRCm39) I3054V possibly damaging Het
Scube2 A T 7: 109,442,383 (GRCm39) probably benign Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slc17a8 G T 10: 89,427,000 (GRCm39) probably benign Het
Snapc4 G A 2: 26,255,510 (GRCm39) Q1005* probably null Het
Stag3 A G 5: 138,297,101 (GRCm39) I550M probably damaging Het
Steap4 G T 5: 8,030,494 (GRCm39) R450L probably damaging Het
Strn4 T C 7: 16,556,923 (GRCm39) probably benign Het
Stxbp3 C T 3: 108,712,549 (GRCm39) probably null Het
Syngr1 A G 15: 80,000,240 (GRCm39) D117G probably damaging Het
Tbc1d10b A T 7: 126,798,967 (GRCm39) I513N possibly damaging Het
Other mutations in Rreb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Rreb1 APN 13 38,100,472 (GRCm39) missense probably benign 0.09
IGL00336:Rreb1 APN 13 38,113,622 (GRCm39) nonsense probably null
IGL00473:Rreb1 APN 13 38,114,767 (GRCm39) nonsense probably null
IGL01338:Rreb1 APN 13 38,115,010 (GRCm39) missense probably damaging 1.00
IGL01836:Rreb1 APN 13 38,115,433 (GRCm39) missense probably damaging 1.00
IGL02066:Rreb1 APN 13 38,115,482 (GRCm39) missense probably benign 0.16
IGL02661:Rreb1 APN 13 38,114,778 (GRCm39) nonsense probably null
IGL02739:Rreb1 APN 13 38,077,797 (GRCm39) missense probably damaging 1.00
IGL03267:Rreb1 APN 13 38,116,169 (GRCm39) missense probably benign 0.30
IGL03332:Rreb1 APN 13 38,114,892 (GRCm39) missense probably benign 0.42
IGL03403:Rreb1 APN 13 38,113,550 (GRCm39) missense possibly damaging 0.78
R0039:Rreb1 UTSW 13 38,083,613 (GRCm39) missense probably damaging 1.00
R0039:Rreb1 UTSW 13 38,083,613 (GRCm39) missense probably damaging 1.00
R0101:Rreb1 UTSW 13 38,115,518 (GRCm39) missense probably benign 0.04
R0265:Rreb1 UTSW 13 38,100,131 (GRCm39) nonsense probably null
R0635:Rreb1 UTSW 13 38,125,540 (GRCm39) missense possibly damaging 0.92
R0939:Rreb1 UTSW 13 38,116,207 (GRCm39) missense probably benign 0.09
R1099:Rreb1 UTSW 13 38,132,867 (GRCm39) missense probably benign 0.16
R1438:Rreb1 UTSW 13 38,114,581 (GRCm39) missense probably benign 0.16
R1457:Rreb1 UTSW 13 38,130,904 (GRCm39) missense possibly damaging 0.52
R1510:Rreb1 UTSW 13 38,115,860 (GRCm39) missense probably benign 0.04
R1672:Rreb1 UTSW 13 38,114,513 (GRCm39) missense probably benign 0.09
R1772:Rreb1 UTSW 13 38,114,899 (GRCm39) missense probably benign 0.09
R2171:Rreb1 UTSW 13 38,114,822 (GRCm39) missense probably benign 0.00
R2371:Rreb1 UTSW 13 38,100,513 (GRCm39) missense probably benign 0.09
R2566:Rreb1 UTSW 13 38,113,768 (GRCm39) missense possibly damaging 0.62
R2571:Rreb1 UTSW 13 38,083,613 (GRCm39) missense probably damaging 1.00
R2862:Rreb1 UTSW 13 38,116,429 (GRCm39) missense probably benign 0.02
R2874:Rreb1 UTSW 13 38,100,484 (GRCm39) missense probably benign 0.09
R2911:Rreb1 UTSW 13 38,132,896 (GRCm39) missense probably benign 0.00
R3722:Rreb1 UTSW 13 38,131,074 (GRCm39) missense probably benign 0.01
R3767:Rreb1 UTSW 13 38,113,579 (GRCm39) missense possibly damaging 0.95
R3770:Rreb1 UTSW 13 38,113,579 (GRCm39) missense possibly damaging 0.95
R3885:Rreb1 UTSW 13 38,077,941 (GRCm39) missense probably damaging 1.00
R3886:Rreb1 UTSW 13 38,082,482 (GRCm39) splice site probably null
R3888:Rreb1 UTSW 13 38,077,941 (GRCm39) missense probably damaging 1.00
R3889:Rreb1 UTSW 13 38,077,941 (GRCm39) missense probably damaging 1.00
R4064:Rreb1 UTSW 13 38,114,293 (GRCm39) missense probably benign 0.42
R4134:Rreb1 UTSW 13 38,131,099 (GRCm39) missense probably damaging 1.00
R4135:Rreb1 UTSW 13 38,131,099 (GRCm39) missense probably damaging 1.00
R4174:Rreb1 UTSW 13 38,114,126 (GRCm39) missense possibly damaging 0.95
R4250:Rreb1 UTSW 13 38,077,869 (GRCm39) missense possibly damaging 0.63
R4287:Rreb1 UTSW 13 38,115,907 (GRCm39) missense probably benign 0.03
R4396:Rreb1 UTSW 13 38,114,419 (GRCm39) nonsense probably null
R4658:Rreb1 UTSW 13 38,132,777 (GRCm39) missense probably damaging 1.00
R4841:Rreb1 UTSW 13 38,100,502 (GRCm39) missense probably benign 0.09
R4856:Rreb1 UTSW 13 38,115,034 (GRCm39) missense possibly damaging 0.62
R4886:Rreb1 UTSW 13 38,115,034 (GRCm39) missense possibly damaging 0.62
R5092:Rreb1 UTSW 13 38,112,254 (GRCm39) missense probably benign 0.09
R5122:Rreb1 UTSW 13 38,114,744 (GRCm39) missense probably benign 0.02
R5405:Rreb1 UTSW 13 38,133,087 (GRCm39) missense probably damaging 0.99
R5408:Rreb1 UTSW 13 38,115,320 (GRCm39) missense probably benign 0.01
R5446:Rreb1 UTSW 13 38,082,473 (GRCm39) missense possibly damaging 0.78
R5641:Rreb1 UTSW 13 38,131,397 (GRCm39) missense probably benign 0.00
R5859:Rreb1 UTSW 13 38,131,385 (GRCm39) missense probably benign 0.06
R5859:Rreb1 UTSW 13 38,131,384 (GRCm39) missense probably benign 0.24
R6429:Rreb1 UTSW 13 38,116,105 (GRCm39) missense probably benign 0.03
R6678:Rreb1 UTSW 13 38,083,675 (GRCm39) missense probably damaging 1.00
R7130:Rreb1 UTSW 13 38,083,724 (GRCm39) missense probably damaging 1.00
R7186:Rreb1 UTSW 13 38,125,608 (GRCm39) missense probably benign 0.02
R7188:Rreb1 UTSW 13 38,100,544 (GRCm39) missense possibly damaging 0.79
R7387:Rreb1 UTSW 13 38,131,040 (GRCm39) missense unknown
R7453:Rreb1 UTSW 13 38,125,545 (GRCm39) missense probably damaging 0.98
R7492:Rreb1 UTSW 13 38,115,724 (GRCm39) missense probably benign 0.00
R7585:Rreb1 UTSW 13 38,077,874 (GRCm39) missense probably benign 0.07
R7621:Rreb1 UTSW 13 38,133,042 (GRCm39) missense
R7645:Rreb1 UTSW 13 38,115,010 (GRCm39) missense probably damaging 1.00
R7653:Rreb1 UTSW 13 38,114,362 (GRCm39) missense probably benign 0.19
R7670:Rreb1 UTSW 13 38,115,548 (GRCm39) missense probably benign 0.00
R7701:Rreb1 UTSW 13 38,114,092 (GRCm39) missense possibly damaging 0.60
R7708:Rreb1 UTSW 13 38,113,546 (GRCm39) missense probably benign 0.18
R7874:Rreb1 UTSW 13 38,131,100 (GRCm39) missense probably damaging 1.00
R8103:Rreb1 UTSW 13 38,125,677 (GRCm39) missense probably benign 0.16
R8129:Rreb1 UTSW 13 38,113,775 (GRCm39) missense probably benign 0.00
R8239:Rreb1 UTSW 13 38,077,848 (GRCm39) missense probably damaging 1.00
R8324:Rreb1 UTSW 13 38,131,597 (GRCm39) missense probably damaging 1.00
R8824:Rreb1 UTSW 13 38,114,492 (GRCm39) missense probably damaging 0.99
R8910:Rreb1 UTSW 13 38,132,741 (GRCm39) missense
R8992:Rreb1 UTSW 13 38,114,352 (GRCm39) missense probably benign 0.30
R9064:Rreb1 UTSW 13 38,115,326 (GRCm39) missense possibly damaging 0.94
R9087:Rreb1 UTSW 13 38,115,644 (GRCm39) missense probably benign 0.33
R9130:Rreb1 UTSW 13 38,114,282 (GRCm39) missense probably benign 0.29
R9582:Rreb1 UTSW 13 38,114,734 (GRCm39) missense probably benign 0.29
R9602:Rreb1 UTSW 13 38,114,477 (GRCm39) missense probably damaging 0.99
R9774:Rreb1 UTSW 13 38,114,185 (GRCm39) missense probably benign 0.18
X0024:Rreb1 UTSW 13 38,115,556 (GRCm39) missense probably benign 0.09
X0026:Rreb1 UTSW 13 38,115,968 (GRCm39) missense probably benign 0.17
Z1088:Rreb1 UTSW 13 38,132,913 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCATAAAACCCTGTCCCGATG -3'
(R):5'- CTCCCTGAAAGATACCATGGC -3'

Sequencing Primer
(F):5'- GATGACGTCGAATTCGCCCATTG -3'
(R):5'- CACAAAGGGTTTTCTCCATGCAAGG -3'
Posted On 2015-04-17