Mutagenetix > Incidental Mutation

Incidental Mutation 'R4287:Rreb1'

322074

Institutional Source

Beutler Lab

Gene Symbol

Rreb1

Ensembl Gene

ENSMUSG00000039087

Gene Name

ras responsive element binding protein 1

Synonyms

1110037N09Rik, B930013M22Rik

MMRRC Submission

041652-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R4287 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37778400-37952005 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37931931 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1089 (T1089S)

Ref Sequence

ENSEMBL: ENSMUSP00000121211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037232] [ENSMUST00000110237] [ENSMUST00000110238] [ENSMUST00000124373] [ENSMUST00000128570] [ENSMUST00000149745]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000037232
AA Change: T1089S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000049265
Gene: ENSMUSG00000039087
AA Change: T1089S

Domain	Start	End	E-Value	Type
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: T1089S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105866
Gene: ENSMUSG00000039087
AA Change: T1089S

Domain	Start	End	E-Value	Type
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: T1089S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105867
Gene: ENSMUSG00000039087
AA Change: T1089S

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000124268

Predicted Effect

probably benign
Transcript: ENSMUST00000124373

Predicted Effect

probably benign
Transcript: ENSMUST00000128570
AA Change: T1089S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000115599
Gene: ENSMUSG00000039087
AA Change: T1089S

Domain	Start	End	E-Value	Type
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: T1089S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000121211
Gene: ENSMUSG00000039087
AA Change: T1089S

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0923

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (40/41)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc5	A	G	5: 122,800,601	V362A	probably benign	Het
Ash1l	T	A	3: 89,066,415	C2594S	probably damaging	Het
Ccdc82	C	A	9: 13,253,418	Q303K	probably benign	Het
Cog1	A	G	11: 113,654,027	Y345C	probably damaging	Het
Fpgt	T	C	3: 155,091,360		probably benign	Het
Glrb	A	T	3: 80,845,232	V408D	possibly damaging	Het
Gm7135	A	G	1: 97,400,398		noncoding transcript	Het
Il1rn	T	C	2: 24,349,545	L151P	probably damaging	Het
Itgav	G	T	2: 83,724,840	E36*	probably null	Het
Kidins220	G	A	12: 25,056,846	E1433K	possibly damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klra3	A	G	6: 130,334,302	C39R	probably benign	Het
Lce1i	A	G	3: 92,777,435	S145P	unknown	Het
Memo1	T	C	17: 74,255,298		probably null	Het
Mpp3	G	A	11: 102,023,463	A102V	probably damaging	Het
Mug2	T	A	6: 122,063,673	D727E	probably benign	Het
Ndufb8	T	C	19: 44,552,691	I107V	probably benign	Het
Olfr186	A	T	16: 59,027,613	M98K	probably benign	Het
Pnn	C	T	12: 59,072,170	T513I	possibly damaging	Het
Ric8a	A	G	7: 140,861,422	Y210C	probably damaging	Het
Ripor2	G	A	13: 24,725,009	V1037M	probably damaging	Het
Rrs1	C	T	1: 9,546,215	S231L	probably damaging	Het
Rrs1	C	T	1: 9,546,223	R234C	possibly damaging	Het
Sec23ip	A	G	7: 128,777,333	D838G	probably benign	Het
Setbp1	T	C	18: 78,859,061	I464V	probably benign	Het
Slc25a51	C	T	4: 45,399,768	V141M	probably benign	Het
Slc41a3	A	T	6: 90,640,922	H310L	probably benign	Het
Smurf1	A	G	5: 144,891,458	S363P	probably benign	Het
Tln1	C	T	4: 43,543,509	R1269Q	probably benign	Het
Tmed3	A	G	9: 89,704,898	S10P	probably benign	Het
Tomm70a	T	G	16: 57,140,622	Y313D	probably damaging	Het
Umodl1	A	G	17: 30,988,065	E810G	probably benign	Het
Unc5c	T	C	3: 141,714,674	I52T	probably damaging	Het
Unc5d	T	A	8: 28,719,796	Y432F	probably benign	Het
Vmn2r97	A	T	17: 18,948,075		probably benign	Het
Zfp629	T	C	7: 127,611,938	Y233C	probably damaging	Het
Zfp986	T	C	4: 145,892,518		probably null	Het

Other mutations in Rreb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Rreb1	APN	13	37916496	missense	probably benign	0.09
IGL00336:Rreb1	APN	13	37929646	nonsense	probably null
IGL00473:Rreb1	APN	13	37930791	nonsense	probably null
IGL01338:Rreb1	APN	13	37931034	missense	probably damaging	1.00
IGL01836:Rreb1	APN	13	37931457	missense	probably damaging	1.00
IGL02066:Rreb1	APN	13	37931506	missense	probably benign	0.16
IGL02661:Rreb1	APN	13	37930802	nonsense	probably null
IGL02739:Rreb1	APN	13	37893821	missense	probably damaging	1.00
IGL03267:Rreb1	APN	13	37932193	missense	probably benign	0.30
IGL03332:Rreb1	APN	13	37930916	missense	probably benign	0.42
IGL03403:Rreb1	APN	13	37929574	missense	possibly damaging	0.78
R0039:Rreb1	UTSW	13	37899637	missense	probably damaging	1.00
R0039:Rreb1	UTSW	13	37899637	missense	probably damaging	1.00
R0101:Rreb1	UTSW	13	37931542	missense	probably benign	0.04
R0265:Rreb1	UTSW	13	37916155	nonsense	probably null
R0635:Rreb1	UTSW	13	37941564	missense	possibly damaging	0.92
R0939:Rreb1	UTSW	13	37932231	missense	probably benign	0.09
R1099:Rreb1	UTSW	13	37948891	missense	probably benign	0.16
R1438:Rreb1	UTSW	13	37930605	missense	probably benign	0.16
R1457:Rreb1	UTSW	13	37946928	missense	possibly damaging	0.52
R1510:Rreb1	UTSW	13	37931884	missense	probably benign	0.04
R1672:Rreb1	UTSW	13	37930537	missense	probably benign	0.09
R1772:Rreb1	UTSW	13	37930923	missense	probably benign	0.09
R2171:Rreb1	UTSW	13	37930846	missense	probably benign	0.00
R2371:Rreb1	UTSW	13	37916537	missense	probably benign	0.09
R2566:Rreb1	UTSW	13	37929792	missense	possibly damaging	0.62
R2571:Rreb1	UTSW	13	37899637	missense	probably damaging	1.00
R2862:Rreb1	UTSW	13	37932453	missense	probably benign	0.02
R2874:Rreb1	UTSW	13	37916508	missense	probably benign	0.09
R2911:Rreb1	UTSW	13	37948920	missense	probably benign	0.00
R3722:Rreb1	UTSW	13	37947098	missense	probably benign	0.01
R3767:Rreb1	UTSW	13	37929603	missense	possibly damaging	0.95
R3770:Rreb1	UTSW	13	37929603	missense	possibly damaging	0.95
R3885:Rreb1	UTSW	13	37893965	missense	probably damaging	1.00
R3886:Rreb1	UTSW	13	37898506	splice site	probably null
R3887:Rreb1	UTSW	13	37893965	missense	probably damaging	1.00
R3888:Rreb1	UTSW	13	37893965	missense	probably damaging	1.00
R3889:Rreb1	UTSW	13	37893965	missense	probably damaging	1.00
R4064:Rreb1	UTSW	13	37930317	missense	probably benign	0.42
R4134:Rreb1	UTSW	13	37947123	missense	probably damaging	1.00
R4135:Rreb1	UTSW	13	37947123	missense	probably damaging	1.00
R4174:Rreb1	UTSW	13	37930150	missense	possibly damaging	0.95
R4250:Rreb1	UTSW	13	37893893	missense	possibly damaging	0.63
R4396:Rreb1	UTSW	13	37930443	nonsense	probably null
R4658:Rreb1	UTSW	13	37948801	missense	probably damaging	1.00
R4841:Rreb1	UTSW	13	37916526	missense	probably benign	0.09
R4856:Rreb1	UTSW	13	37931058	missense	possibly damaging	0.62
R4886:Rreb1	UTSW	13	37931058	missense	possibly damaging	0.62
R5092:Rreb1	UTSW	13	37928278	missense	probably benign	0.09
R5122:Rreb1	UTSW	13	37930768	missense	probably benign	0.02
R5405:Rreb1	UTSW	13	37949111	missense	probably damaging	0.99
R5408:Rreb1	UTSW	13	37931344	missense	probably benign	0.01
R5446:Rreb1	UTSW	13	37898497	missense	possibly damaging	0.78
R5641:Rreb1	UTSW	13	37947421	missense	probably benign	0.00
R5859:Rreb1	UTSW	13	37947408	missense	probably benign	0.24
R5859:Rreb1	UTSW	13	37947409	missense	probably benign	0.06
R6429:Rreb1	UTSW	13	37932129	missense	probably benign	0.03
R6678:Rreb1	UTSW	13	37899699	missense	probably damaging	1.00
R7130:Rreb1	UTSW	13	37899748	missense	probably damaging	1.00
R7186:Rreb1	UTSW	13	37941632	missense	probably benign	0.02
R7188:Rreb1	UTSW	13	37916568	missense	possibly damaging	0.79
R7387:Rreb1	UTSW	13	37947064	missense	unknown
R7453:Rreb1	UTSW	13	37941569	missense	probably damaging	0.98
R7492:Rreb1	UTSW	13	37931748	missense	probably benign	0.00
R7585:Rreb1	UTSW	13	37893898	missense	probably benign	0.07
R7621:Rreb1	UTSW	13	37949066	missense
R7645:Rreb1	UTSW	13	37931034	missense	probably damaging	1.00
R7653:Rreb1	UTSW	13	37930386	missense	probably benign	0.19
R7670:Rreb1	UTSW	13	37931572	missense	probably benign	0.00
R7701:Rreb1	UTSW	13	37930116	missense	possibly damaging	0.60
R7708:Rreb1	UTSW	13	37929570	missense	probably benign	0.18
R7874:Rreb1	UTSW	13	37947124	missense	probably damaging	1.00
R8103:Rreb1	UTSW	13	37941701	missense	probably benign	0.16
R8129:Rreb1	UTSW	13	37929799	missense	probably benign	0.00
R8239:Rreb1	UTSW	13	37893872	missense	probably damaging	1.00
R8324:Rreb1	UTSW	13	37947621	missense	probably damaging	1.00
R8824:Rreb1	UTSW	13	37930516	missense	probably damaging	0.99
R8910:Rreb1	UTSW	13	37948765	missense
R8992:Rreb1	UTSW	13	37930376	missense	probably benign	0.30
R9064:Rreb1	UTSW	13	37931350	missense	possibly damaging	0.94
R9087:Rreb1	UTSW	13	37931668	missense	probably benign	0.33
R9130:Rreb1	UTSW	13	37930306	missense	probably benign	0.29
R9582:Rreb1	UTSW	13	37930758	missense	probably benign	0.29
R9602:Rreb1	UTSW	13	37930501	missense	probably damaging	0.99
R9774:Rreb1	UTSW	13	37930209	missense	probably benign	0.18
X0024:Rreb1	UTSW	13	37931580	missense	probably benign	0.09
X0026:Rreb1	UTSW	13	37931992	missense	probably benign	0.17
Z1088:Rreb1	UTSW	13	37948937	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGCAATACTCCCCTCTTGG -3'
(R):5'- TCGATGCTAGCAAACTCCC -3'

Sequencing Primer
(F):5'- CTTGAACAACCCAGCCTT -3'
(R):5'- GGCCCTTGTTCAGTAGGCAAG -3'

Posted On

2015-06-20