Mutagenetix > Incidental Mutation

Incidental Mutation 'R7645:Rreb1'

590494

Institutional Source

Beutler Lab

Gene Symbol

Rreb1

Ensembl Gene

ENSMUSG00000039087

Gene Name

ras responsive element binding protein 1

Synonyms

1110037N09Rik, B930013M22Rik

MMRRC Submission

045701-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R7645 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37778400-37952005 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37931034 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 790 (C790R)

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 damaging
Transcript: ENSMUST00000037232
AA Change: C790R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049265
Gene: ENSMUSG00000039087
AA Change: C790R

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 damaging
Transcript: ENSMUST00000110237
AA Change: C790R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105866
Gene: ENSMUSG00000039087
AA Change: C790R

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 damaging
Transcript: ENSMUST00000110238
AA Change: C790R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105867
Gene: ENSMUSG00000039087
AA Change: C790R

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 damaging
Transcript: ENSMUST00000128570
AA Change: C790R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115599
Gene: ENSMUSG00000039087
AA Change: C790R

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 damaging
Transcript: ENSMUST00000149745
AA Change: C790R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121211
Gene: ENSMUSG00000039087
AA Change: C790R

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (46/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,256,255	C375S	probably benign	Het
Adgrg3	A	G	8: 95,034,764		probably benign	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Atg2b	T	C	12: 105,623,430	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,587,963	N290K	probably benign	Het
Ccdc39	T	C	3: 33,825,169		probably null	Het
Cnot10	T	C	9: 114,613,637	S501G	probably benign	Het
Col6a6	A	G	9: 105,767,198		probably null	Het
Coq2	A	C	5: 100,660,250	C228W	probably damaging	Het
Cpt2	A	T	4: 107,906,974	M531K	possibly damaging	Het
Dennd1a	A	G	2: 38,021,363	L204P	probably damaging	Het
Dirc2	T	A	16: 35,734,068		probably null	Het
Dock9	C	T	14: 121,597,663	V1305M	probably benign	Het
Dusp16	A	G	6: 134,725,925	I201T	probably damaging	Het
Esco2	T	C	14: 65,827,181	D370G	probably benign	Het
Fbxl4	T	C	4: 22,377,037	S158P	probably damaging	Het
Fut10	A	G	8: 31,236,204	H329R	possibly damaging	Het
Gm10436	T	C	12: 88,176,258	T392A	probably damaging	Het
Gpr3	A	G	4: 133,211,329	W11R	probably damaging	Het
H2-M3	T	A	17: 37,270,729	I94N	probably damaging	Het
Krt7	T	C	15: 101,412,643	I57T	probably damaging	Het
Ltc4s	T	C	11: 50,238,546		probably benign	Het
Ms4a6b	A	T	19: 11,523,940	T105S	probably damaging	Het
Muc6	T	C	7: 141,648,658	H592R	probably benign	Het
Ncam1	T	C	9: 49,565,003	E262G	probably benign	Het
Olfr1265	T	A	2: 90,037,747	I276K	possibly damaging	Het
Olfr1462	T	C	19: 13,191,573	V302A	probably benign	Het
Plxnb1	T	A	9: 109,114,412	S1908T	probably damaging	Het
Polg2	A	T	11: 106,775,593	M242K	probably benign	Het
Polr3g	T	C	13: 81,694,444	T151A	unknown	Het
Psmb8	T	C	17: 34,200,212	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,681,391	A176V	possibly damaging	Het
Rufy3	A	G	5: 88,640,617	T506A	probably benign	Het
Samd11	T	C	4: 156,255,183		probably benign	Het
Slc12a2	T	C	18: 57,896,378	F279L	possibly damaging	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,295		probably benign	Het
Srgn	C	T	10: 62,494,978	W116*	probably null	Het
Svil	A	G	18: 5,099,663	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,235,541	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,242,553	K490M	probably damaging	Het
Tcte1	A	G	17: 45,534,989	N173S	probably benign	Het
Tmco6	C	T	18: 36,735,393	R31W	probably damaging	Het
Ttn	C	A	2: 76,899,681	A5155S	unknown	Het
Tyro3	T	C	2: 119,816,906	Y839H	probably damaging	Het
Zc3h12d	A	G	10: 7,867,576	D370G	probably benign	Het
Zc3h7b	T	C	15: 81,780,602	L554P	probably damaging	Het
Zfp352	C	T	4: 90,224,777	P385S	probably benign	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
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
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'- AACATAGAGTACGTGAGCAGCC -3'
(R):5'- TTTTGGGGCTCCAGGAAAG -3'

Sequencing Primer
(F):5'- TACGTGAGCAGCCCCACC -3'
(R):5'- TTGCACTCCGCGAAAGTGAC -3'

Posted On

2019-10-24