Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00336:Rreb1'

5944

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rreb1

Ensembl Gene

ENSMUSG00000039087

Gene Name

ras responsive element binding protein 1

Synonyms

1110037N09Rik, B930013M22Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.956) question?

Stock #

IGL00336

Quality Score

Status

Chromosome

Chromosomal Location

37778400-37952005 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 37929646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 327 (S327*)

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 null
Transcript: ENSMUST00000037232
AA Change: S327*

SMART Domains

Protein: ENSMUSP00000049265
Gene: ENSMUSG00000039087
AA Change: S327*

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 null
Transcript: ENSMUST00000110237
AA Change: S327*

SMART Domains

Protein: ENSMUSP00000105866
Gene: ENSMUSG00000039087
AA Change: S327*

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 null
Transcript: ENSMUST00000110238
AA Change: S327*

SMART Domains

Protein: ENSMUSP00000105867
Gene: ENSMUSG00000039087
AA Change: S327*

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 null
Transcript: ENSMUST00000128570
AA Change: S327*

SMART Domains

Protein: ENSMUSP00000115599
Gene: ENSMUSG00000039087
AA Change: S327*

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 null
Transcript: ENSMUST00000149745
AA Change: S327*

SMART Domains

Protein: ENSMUSP00000121211
Gene: ENSMUSG00000039087
AA Change: S327*

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

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,015,423	D86V	possibly damaging	Het
A430033K04Rik	A	G	5: 138,647,104	Y417C	probably damaging	Het
Adam28	T	A	14: 68,622,120	H548L	possibly damaging	Het
AF529169	T	C	9: 89,603,143	D67G	probably damaging	Het
Agbl3	A	T	6: 34,846,836	D812V	probably damaging	Het
Aox1	T	A	1: 58,059,044	L305Q	probably damaging	Het
Arhgef38	A	G	3: 133,132,051	V706A	probably benign	Het
Arl15	A	G	13: 114,154,752	I171V	probably benign	Het
Cacna1s	C	A	1: 136,084,273	Y237*	probably null	Het
Ccnt1	T	C	15: 98,565,109	T61A	possibly damaging	Het
Col25a1	T	A	3: 130,181,784		probably benign	Het
Col4a1	T	A	8: 11,240,077		probably benign	Het
Dcun1d1	T	C	3: 35,916,306	E130G	possibly damaging	Het
Dnah7b	G	A	1: 46,142,149	M1065I	probably benign	Het
Ephb2	T	G	4: 136,657,484	K872T	probably damaging	Het
Fga	G	A	3: 83,031,674	G452D	probably damaging	Het
Flrt1	T	A	19: 7,096,912	N90I	probably damaging	Het
Fut10	T	A	8: 31,195,291		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr137b	T	C	13: 13,374,415		probably benign	Het
Gprc5d	G	A	6: 135,116,490	Q140*	probably null	Het
Ifi27l2b	T	C	12: 103,451,217	K237R	unknown	Het
Ipo8	A	T	6: 148,782,786	M836K	possibly damaging	Het
Kcnq4	G	A	4: 120,698,016	Q657*	probably null	Het
Lama1	A	T	17: 67,813,948	H2693L	probably benign	Het
Lrrc23	A	G	6: 124,778,926	W40R	probably damaging	Het
Morn2	C	A	17: 80,295,504		probably benign	Het
Ms4a6b	T	A	19: 11,529,490	N214K	possibly damaging	Het
Nags	A	T	11: 102,149,066	S527C	probably damaging	Het
Ndst1	C	T	18: 60,707,956	G218D	probably damaging	Het
Olfr1097	C	T	2: 86,890,245	C310Y	probably benign	Het
Olfr1442	T	A	19: 12,674,560	Y118*	probably null	Het
Olfr16	G	A	1: 172,957,478	V228M	probably benign	Het
Oxa1l	G	T	14: 54,363,345	G92*	probably null	Het
Parp16	A	T	9: 65,229,963	E157V	probably damaging	Het
Pcdh17	A	T	14: 84,447,544	I484F	probably damaging	Het
Pex16	A	G	2: 92,379,235	R263G	probably benign	Het
Pkd1l3	G	A	8: 109,630,237	E765K	possibly damaging	Het
Plce1	T	C	19: 38,651,906	V532A	probably damaging	Het
Polq	A	G	16: 37,065,247		probably benign	Het
Pramel5	T	C	4: 144,271,621	T351A	probably damaging	Het
Prokr1	A	T	6: 87,588,611	I84N	probably damaging	Het
Prss30	A	T	17: 23,973,721	S162T	probably benign	Het
Ranbp2	A	G	10: 58,451,984	K25E	probably damaging	Het
Rapsn	A	G	2: 91,035,860	T22A	probably damaging	Het
Rhoj	G	T	12: 75,308,906	G9V	probably damaging	Het
Rnf213	A	G	11: 119,449,343	R3467G	probably benign	Het
Scn5a	G	A	9: 119,486,224	P1806L	probably damaging	Het
Sema6a	C	A	18: 47,289,975		probably null	Het
Stag3	G	A	5: 138,297,659	E416K	probably benign	Het
Stpg1	T	A	4: 135,529,545	S216T	possibly damaging	Het
Tfeb	C	A	17: 47,791,664	N426K	probably benign	Het
Trp53bp1	G	T	2: 121,256,579	Q199K	possibly damaging	Het
Ubr4	A	G	4: 139,428,566	D2234G	probably damaging	Het
Ush1c	T	G	7: 46,196,770	Q866P	probably benign	Het
Vdr	T	A	15: 97,884,854	D29V	probably damaging	Het
Vps13c	T	C	9: 67,945,942	V2439A	probably benign	Het
Xirp2	T	C	2: 67,512,598	S1728P	possibly damaging	Het
Zfp9	A	G	6: 118,464,475	S409P	probably damaging	Het

Other mutations in Rreb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Rreb1	APN	13	37916496	missense	probably benign	0.09
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
R4287:Rreb1	UTSW	13	37931931	missense	probably benign	0.03
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
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

Posted On

2012-04-20