Incidental Mutation 'R9582:Rreb1'
ID 722620
Institutional Source Beutler Lab
Gene Symbol Rreb1
Ensembl Gene ENSMUSG00000039087
Gene Name ras responsive element binding protein 1
Synonyms 1110037N09Rik, B930013M22Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R9582 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 37962376-38135981 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38114734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 698 (I698V)
Ref Sequence ENSEMBL: ENSMUSP00000105867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037232] [ENSMUST00000110237] [ENSMUST00000110238] [ENSMUST00000124373] [ENSMUST00000128570] [ENSMUST00000149745]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000037232
AA Change: I698V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049265
Gene: ENSMUSG00000039087
AA Change: I698V

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: I698V

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105866
Gene: ENSMUSG00000039087
AA Change: I698V

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: I698V

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105867
Gene: ENSMUSG00000039087
AA Change: I698V

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: ENSMUST00000124373
Predicted Effect probably damaging
Transcript: ENSMUST00000128570
AA Change: I698V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115599
Gene: ENSMUSG00000039087
AA Change: I698V

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: I698V

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121211
Gene: ENSMUSG00000039087
AA Change: I698V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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 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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,772,766 (GRCm39) F652I probably damaging Het
Adam17 A T 12: 21,386,665 (GRCm39) I457K probably benign Het
Arpin T C 7: 79,585,038 (GRCm39) probably benign Het
Bhlhe40 A G 6: 108,638,467 (GRCm39) E51G probably benign Het
Ces1a C T 8: 93,766,156 (GRCm39) D153N probably benign Het
Cog7 T C 7: 121,536,200 (GRCm39) M547V probably benign Het
Csrnp2 C T 15: 100,386,067 (GRCm39) R57K possibly damaging Het
Dact1 A T 12: 71,365,619 (GRCm39) K763M probably damaging Het
Ddost A T 4: 138,035,583 (GRCm39) I101F possibly damaging Het
Dyrk1b C T 7: 27,882,028 (GRCm39) R130W probably damaging Het
Ep400 A C 5: 110,824,315 (GRCm39) probably null Het
Fam227a A G 15: 79,501,978 (GRCm39) V532A probably benign Het
Flnc C A 6: 29,460,736 (GRCm39) T2609K probably damaging Het
Gbp10 A G 5: 105,372,256 (GRCm39) V168A probably benign Het
Gp5 A G 16: 30,127,057 (GRCm39) V539A probably benign Het
H2-T13 T A 17: 36,392,375 (GRCm39) R33S unknown Het
Itih5 A G 2: 10,195,013 (GRCm39) E135G probably benign Het
L2hgdh A G 12: 69,739,172 (GRCm39) V433A probably benign Het
Leng9 A G 7: 4,152,263 (GRCm39) S138P probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Ly6g6e T C 17: 35,296,159 (GRCm39) V10A probably benign Het
Lypla1 C T 1: 4,911,248 (GRCm39) P178S probably benign Het
Mark1 A G 1: 184,651,858 (GRCm39) F216L possibly damaging Het
Mertk G A 2: 128,624,527 (GRCm39) R646Q possibly damaging Het
Mmp9 A C 2: 164,791,235 (GRCm39) D135A probably benign Het
Nefl A G 14: 68,324,849 (GRCm39) K529E unknown Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nwd1 A G 8: 73,421,917 (GRCm39) T988A probably damaging Het
P4ha2 T A 11: 54,022,065 (GRCm39) C529* probably null Het
Pcdhb4 T A 18: 37,441,417 (GRCm39) F242L probably damaging Het
Pced1b A G 15: 97,282,450 (GRCm39) N163S probably damaging Het
Pde8b A G 13: 95,169,369 (GRCm39) V585A probably damaging Het
Pknox2 T A 9: 36,804,252 (GRCm39) T432S probably damaging Het
Rad18 A G 6: 112,658,298 (GRCm39) probably null Het
Rpgrip1l C T 8: 91,996,886 (GRCm39) V665I probably benign Het
Schip1 TCTGGCC TC 3: 68,525,060 (GRCm39) probably null Het
Slc2a4 C T 11: 69,837,450 (GRCm39) V32M probably damaging Het
Slc40a1 A G 1: 45,950,499 (GRCm39) Y318H probably damaging Het
Spag16 A G 1: 69,897,717 (GRCm39) T156A probably benign Het
Srebf1 C A 11: 60,097,868 (GRCm39) A103S probably benign Het
Sspn C T 6: 145,899,334 (GRCm39) probably benign Het
Stoml2 A T 4: 43,030,238 (GRCm39) probably null Het
Stra6 T A 9: 58,054,770 (GRCm39) V319E probably damaging Het
Syt7 T C 19: 10,416,780 (GRCm39) F414L probably damaging Het
Tet3 G T 6: 83,381,226 (GRCm39) P314Q probably damaging Het
Tnrc18 A T 5: 142,757,128 (GRCm39) L1313Q Het
Topors A T 4: 40,260,460 (GRCm39) D941E unknown Het
Txnip T A 3: 96,465,659 (GRCm39) C36* probably null Het
Uba3 A T 6: 97,168,491 (GRCm39) M178K probably damaging Het
Vmn1r6 A G 6: 56,979,925 (GRCm39) T196A probably benign Het
Vwc2 T A 11: 11,066,129 (GRCm39) S72R probably benign Het
Wnk2 A G 13: 49,210,975 (GRCm39) S1627P probably benign 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
R3887:Rreb1 UTSW 13 38,077,941 (GRCm39) missense probably damaging 1.00
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
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'- TCAAGGCCATCATGACAGGC -3'
(R):5'- TCGGTAGTGCTTCAGATCCTCC -3'

Sequencing Primer
(F):5'- ATGCGCAAGGTGCTCTAC -3'
(R):5'- TTCAGATCCTCCCCGCACAG -3'
Posted On 2022-08-09