Incidental Mutation 'R7874:Rreb1'
ID 608342
Institutional Source Beutler Lab
Gene Symbol Rreb1
Ensembl Gene ENSMUSG00000039087
Gene Name ras responsive element binding protein 1
Synonyms 1110037N09Rik, B930013M22Rik
MMRRC Submission 045926-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R7874 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 37962376-38135981 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38131100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 36 (N36S)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037232] [ENSMUST00000124373] [ENSMUST00000128570]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000037232
AA Change: N1418S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000049265
Gene: ENSMUSG00000039087
AA Change: N1418S

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: ENSMUST00000124373
Predicted Effect possibly damaging
Transcript: ENSMUST00000128570
AA Change: N1418S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115599
Gene: ENSMUSG00000039087
AA Change: N1418S

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 damaging
Transcript: ENSMUST00000162849
AA Change: N36S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124802
Gene: ENSMUSG00000039087
AA Change: N36S

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
ZnF_C2H2 73 95 6.13e-1 SMART
low complexity region 120 135 N/A INTRINSIC
low complexity region 154 165 N/A INTRINSIC
ZnF_C2H2 168 190 4.47e-3 SMART
low complexity region 202 217 N/A INTRINSIC
low complexity region 258 280 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (57/58)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008P02Rik C A 3: 6,685,201 (GRCm39) K84N probably damaging Het
Aacs T C 5: 125,583,271 (GRCm39) F276L possibly damaging Het
Aicda T A 6: 122,538,908 (GRCm39) I179N probably damaging Het
Anks6 T A 4: 47,049,275 (GRCm39) H210L unknown Het
Ano1 G A 7: 144,175,461 (GRCm39) R486W probably damaging Het
Aoc1l3 A G 6: 48,965,600 (GRCm39) N536S possibly damaging Het
Atp8b1 A G 18: 64,704,095 (GRCm39) V341A probably benign Het
Btn1a1 T C 13: 23,643,385 (GRCm39) T355A possibly damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Ceacam19 A T 7: 19,620,363 (GRCm39) D89E probably damaging Het
Cerkl T A 2: 79,168,981 (GRCm39) R407S probably damaging Het
Chl1 A G 6: 103,667,224 (GRCm39) T389A probably benign Het
Dcn A G 10: 97,346,056 (GRCm39) probably null Het
Defa39 C A 8: 22,192,812 (GRCm39) R61S possibly damaging Het
Dhtkd1 T C 2: 5,922,485 (GRCm39) Q558R possibly damaging Het
Dhx36 C A 3: 62,396,052 (GRCm39) V452L probably benign Het
Dlg5 A G 14: 24,185,687 (GRCm39) V1906A probably damaging Het
Emc4 T C 2: 112,194,178 (GRCm39) T159A probably damaging Het
Fstl5 C A 3: 76,569,093 (GRCm39) P582Q probably benign Het
Izumo1r T A 9: 14,811,875 (GRCm39) Y171F probably benign Het
Jag2 C T 12: 112,879,566 (GRCm39) V401M probably damaging Het
Jph2 C T 2: 163,217,762 (GRCm39) G305S probably damaging Het
Kbtbd13 C A 9: 65,297,584 (GRCm39) V451L probably benign Het
Map3k12 T C 15: 102,409,077 (GRCm39) T813A possibly damaging Het
Mast4 A G 13: 102,875,783 (GRCm39) L1295P probably damaging Het
Mia2 T A 12: 59,155,374 (GRCm39) D362E probably damaging Het
Mospd3 T C 5: 137,598,290 (GRCm39) Y77C probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Mup8 T A 4: 60,222,420 (GRCm39) H17L probably damaging Het
Naip2 C T 13: 100,291,459 (GRCm39) D1160N probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Ndnf A T 6: 65,680,413 (GRCm39) M231L probably benign Het
Obscn T G 11: 59,024,102 (GRCm39) T523P probably damaging Het
Or2t46 T C 11: 58,472,573 (GRCm39) V301A possibly damaging Het
P4htm G T 9: 108,474,148 (GRCm39) A130E probably benign Het
Phc3 A T 3: 30,990,863 (GRCm39) D439E probably benign Het
Phlpp1 A G 1: 106,317,603 (GRCm39) I1275V probably benign Het
Poln A T 5: 34,181,694 (GRCm39) I719N probably damaging Het
Ptch2 T A 4: 116,963,161 (GRCm39) L216Q possibly damaging Het
Rarres2 T A 6: 48,549,079 (GRCm39) K41N probably benign Het
Rasal3 C T 17: 32,615,681 (GRCm39) E386K possibly damaging Het
Rev3l T C 10: 39,698,491 (GRCm39) I996T possibly damaging Het
Serpinb9d T A 13: 33,386,654 (GRCm39) probably null Het
Slc14a2 A G 18: 78,203,983 (GRCm39) V526A probably benign Het
Slc45a4 T C 15: 73,456,184 (GRCm39) probably null Het
Srrm2 G A 17: 24,034,652 (GRCm39) R432H unknown Het
Th G A 7: 142,449,308 (GRCm39) R266* probably null Het
Tln1 T C 4: 43,538,041 (GRCm39) Y1853C probably damaging Het
Tln1 A T 4: 43,555,606 (GRCm39) D169E probably damaging Het
Tmcc3 G A 10: 94,386,889 (GRCm39) probably null Het
Tnxb A G 17: 34,930,417 (GRCm39) E2034G probably damaging Het
Top6bl C T 19: 4,708,451 (GRCm39) C347Y probably damaging Het
Ttc4 T C 4: 106,522,881 (GRCm39) T346A probably benign Het
Vmn2r5 A T 3: 64,398,453 (GRCm39) V842E probably damaging Het
Vmn2r82 T G 10: 79,232,345 (GRCm39) N781K probably damaging Het
Zdhhc17 A T 10: 110,817,978 (GRCm39) Y67N possibly damaging Het
Zfp273 A G 13: 67,973,558 (GRCm39) T229A probably benign Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Zswim8 A G 14: 20,773,217 (GRCm39) H1769R probably damaging Het
Zzef1 T C 11: 72,750,479 (GRCm39) V929A 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
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'- TGAGATCAGTCCGGCTTCAC -3'
(R):5'- GGTTTCTCTTCAGGCTCAGG -3'

Sequencing Primer
(F):5'- TTCACAGGACCTTGCTATCAAAGAG -3'
(R):5'- TCTCTTCAGGCTCAGGGGAAG -3'
Posted On 2019-12-20