Mutagenetix > Incidental Mutation

Incidental Mutation 'R8324:Rreb1'

644007

Institutional Source

Beutler Lab

Gene Symbol

Rreb1

Ensembl Gene

ENSMUSG00000039087

Gene Name

ras responsive element binding protein 1

Synonyms

1110037N09Rik, B930013M22Rik

MMRRC Submission

067725-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R8324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37778400-37952005 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37947621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1584 (W1584R)

Ref Sequence

ENSEMBL: ENSMUSP00000049265 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000037232
AA Change: W1584R

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

SMART Domains

Protein: ENSMUSP00000049265
Gene: ENSMUSG00000039087
AA Change: W1584R

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: ENSMUST00000124373

Predicted Effect

probably damaging
Transcript: ENSMUST00000128570
AA Change: W1584R

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

SMART Domains

Protein: ENSMUSP00000115599
Gene: ENSMUSG00000039087
AA Change: W1584R

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: ENSMUST00000162849

SMART Domains

Protein: ENSMUSP00000124802
Gene: ENSMUSG00000039087

Domain	Start	End	E-Value	Type
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: 99.6%
20x: 98.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,290,395	S753P	probably damaging	Het
Acan	A	G	7: 79,091,056	E390G	probably damaging	Het
Antxr2	T	C	5: 97,938,509	N413S	probably damaging	Het
Bace2	C	T	16: 97,356,908	A36V	possibly damaging	Het
Caprin1	G	A	2: 103,783,181	R79*	probably null	Het
Cdan1	A	G	2: 120,727,325	V507A	probably benign	Het
Cdkl3	T	A	11: 52,022,879		probably null	Het
Chst5	A	T	8: 111,890,508	L160Q	probably benign	Het
Col11a1	C	G	3: 114,164,410	P1111R	probably damaging	Het
Col6a6	T	A	9: 105,755,654	E1470D	probably benign	Het
Cpped1	T	A	16: 11,805,476	T274S	probably benign	Het
Ctnnbl1	G	A	2: 157,779,815	E75K	probably damaging	Het
Cyp4f40	T	C	17: 32,659,528	S15P	probably benign	Het
Ddx46	T	C	13: 55,663,914	S643P	probably damaging	Het
Defb34	A	G	8: 19,123,798	Q16R	probably null	Het
Dhrs2	T	A	14: 55,238,764	V147E	probably damaging	Het
Dnah5	G	T	15: 28,346,865	R2498L	probably damaging	Het
Dpp10	T	A	1: 123,854,172	I93F	probably benign	Het
Eef1e1	T	A	13: 38,655,069	D104V	probably damaging	Het
Egfr	A	G	11: 16,858,971	Y55C	probably damaging	Het
Egfr	A	C	11: 16,908,885	I955L	probably damaging	Het
Ehbp1l1	C	A	19: 5,719,998	V426F	possibly damaging	Het
Fam234a	C	T	17: 26,218,698	V108I	probably benign	Het
Fzd8	T	A	18: 9,214,688	M590K	probably damaging	Het
Gm13287	T	C	4: 88,803,638	S129P	probably damaging	Het
Heatr5b	A	G	17: 78,755,364	S1919P	possibly damaging	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Ikbkap	C	T	4: 56,772,491	E877K	probably damaging	Het
Itpr2	T	C	6: 146,328,398	E1233G	probably damaging	Het
Kcnmb4	A	G	10: 116,418,314	L186P	probably damaging	Het
Krt72	T	A	15: 101,782,145	Y224F	probably damaging	Het
Loxhd1	T	C	18: 77,339,579		probably null	Het
Lrguk	A	G	6: 34,102,571	T914A	probably benign	Het
Lrrtm4	A	G	6: 80,021,991	T129A	probably damaging	Het
Mmp13	A	T	9: 7,276,636	I244F	possibly damaging	Het
Mob1a	T	A	6: 83,329,974	L41Q	probably damaging	Het
Mtcl1	T	C	17: 66,436,217	R426G	probably damaging	Het
Mybbp1a	T	C	11: 72,445,288		probably null	Het
Myh9	A	G	15: 77,788,917		probably null	Het
Myo1d	T	A	11: 80,557,521	D926V	probably damaging	Het
Ncapg	T	G	5: 45,695,668	H825Q	probably damaging	Het
Olfml1	T	C	7: 107,590,363	S212P	probably benign	Het
Olfr656	G	A	7: 104,618,114	R145H	probably benign	Het
Pak2	T	C	16: 32,052,211	N51S	probably benign	Het
Papln	T	C	12: 83,786,619	Y1132H	probably damaging	Het
Pax3	T	A	1: 78,193,789	R134S	probably damaging	Het
Pdzrn4	A	G	15: 92,770,937	E990G	probably damaging	Het
Peak1	A	T	9: 56,207,476	W1394R	probably damaging	Het
Pkn2	T	C	3: 142,829,010	N285D	probably benign	Het
Pramef12	A	C	4: 144,395,857	L39R	probably damaging	Het
Prrc2a	A	G	17: 35,156,984	S897P	possibly damaging	Het
Rad51	A	G	2: 119,123,831	T131A	possibly damaging	Het
Rc3h2	T	A	2: 37,400,726	T255S	possibly damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rictor	T	A	15: 6,745,562	V125E	probably damaging	Het
Rps6ka5	C	T	12: 100,558,487	D664N	possibly damaging	Het
Rxra	T	C	2: 27,741,183	I142T	probably damaging	Het
Sall2	T	C	14: 52,312,886	T951A	probably benign	Het
Slc15a2	T	G	16: 36,759,307	N359T	probably damaging	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc6a13	T	C	6: 121,337,414	*603Q	probably null	Het
Sptb	T	C	12: 76,619,162	D894G	possibly damaging	Het
Srgn	A	G	10: 62,507,665	L17P	probably damaging	Het
Tmprss9	T	C	10: 80,897,371		probably null	Het
Trav9n-4	T	C	14: 53,294,946	F86L	probably benign	Het
Trp63	A	G	16: 25,876,734	Y482C	unknown	Het
Ttc9b	G	T	7: 27,653,969	A15S	probably damaging	Het
Urb1	A	T	16: 90,791,190	I410N	probably damaging	Het
Vmn2r82	A	T	10: 79,378,893	K237*	probably null	Het
Wwox	G	A	8: 114,489,005		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
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
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'- CTCAGTGGCGAAACAGAATG -3'
(R):5'- TGCCCTGTAGAAGGCTTGTG -3'

Sequencing Primer
(F):5'- TGAAGAAACAGAGGGTCCCACTG -3'
(R):5'- AAGGCTTGTGGCATTCCAAG -3'

Posted On

2020-09-02