Mutagenetix > Incidental Mutation

Incidental Mutation 'R7621:Rreb1'

589161

Institutional Source

Beutler Lab

Gene Symbol

Rreb1

Ensembl Gene

ENSMUSG00000039087

Gene Name

ras responsive element binding protein 1

Synonyms

1110037N09Rik, B930013M22Rik

MMRRC Submission

045688-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R7621 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37962376-38135981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 38133042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 304 (P304Q)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000037232
AA Change: P1739Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049265
Gene: ENSMUSG00000039087
AA Change: P1739Q

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 benign
Transcript: ENSMUST00000128570
AA Change: P1739Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115599
Gene: ENSMUSG00000039087
AA Change: P1739Q

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

SMART Domains

Protein: ENSMUSP00000124802
Gene: ENSMUSG00000039087
AA Change: P304Q

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (45/45)

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
Abca9	T	A	11: 110,051,359 (GRCm39)	K112N	probably benign	Het
Brwd1	A	G	16: 95,866,087 (GRCm39)	S232P	probably damaging	Het
Calm5	A	T	13: 3,904,629 (GRCm39)	M108L	possibly damaging	Het
Ces1g	A	T	8: 94,055,094 (GRCm39)	V201D	probably damaging	Het
Cltc	C	A	11: 86,598,312 (GRCm39)	V1017L	probably benign	Het
Cpt1c	C	T	7: 44,616,516 (GRCm39)	R245Q	probably damaging	Het
Csrnp1	C	A	9: 119,806,158 (GRCm39)	A39S	probably benign	Het
Elf1	A	G	14: 79,808,322 (GRCm39)	D258G	possibly damaging	Het
Entrep1	A	C	19: 23,972,168 (GRCm39)	S179A	possibly damaging	Het
Glipr1l1	A	T	10: 111,896,300 (GRCm39)	D29V	probably benign	Het
Gm4340	T	C	10: 104,031,820 (GRCm39)	V188A	probably benign	Het
Gsdma2	T	C	11: 98,540,375 (GRCm39)	M98T	probably benign	Het
Hars1	A	T	18: 36,903,476 (GRCm39)	D315E	probably benign	Het
Hsph1	A	C	5: 149,555,540 (GRCm39)	Y89D	probably damaging	Het
Ighv11-2	T	A	12: 114,012,008 (GRCm39)	D69V	probably benign	Het
Kirrel1	C	T	3: 86,995,528 (GRCm39)	G438D	possibly damaging	Het
Krt6a	G	T	15: 101,600,187 (GRCm39)	T355K	possibly damaging	Het
Lce1m	T	C	3: 92,925,177 (GRCm39)		probably null	Het
Lmbrd1	A	T	1: 24,767,625 (GRCm39)		probably null	Het
Lmtk3	A	G	7: 45,442,841 (GRCm39)	E508G	probably damaging	Het
Lrrc2	G	A	9: 110,809,899 (GRCm39)	V312I	probably benign	Het
Lyn	A	T	4: 3,789,834 (GRCm39)	K477*	probably null	Het
Nfe2l2	T	C	2: 75,509,757 (GRCm39)	D21G	probably damaging	Het
Or14c45	G	A	7: 86,176,280 (GRCm39)	C105Y	probably benign	Het
Or4f14d	T	C	2: 111,960,926 (GRCm39)	T77A	probably benign	Het
Or55b3	G	A	7: 102,126,472 (GRCm39)	R202C	possibly damaging	Het
Or8c15	T	C	9: 38,120,447 (GRCm39)	F31L	probably benign	Het
Pgap6	C	A	17: 26,336,865 (GRCm39)	P261Q	probably benign	Het
Pkm	T	A	9: 59,585,441 (GRCm39)	C474*	probably null	Het
Prr36	T	A	8: 4,263,150 (GRCm39)	I839F	unknown	Het
Qtrt2	A	G	16: 43,689,303 (GRCm39)		probably null	Het
Ripk4	A	T	16: 97,547,125 (GRCm39)	V379E	probably damaging	Het
Saxo2	A	T	7: 82,297,625 (GRCm39)	C5S	possibly damaging	Het
Scart2	G	A	7: 139,876,742 (GRCm39)	G711D	probably damaging	Het
Sema5a	C	A	15: 32,609,378 (GRCm39)	T428N	possibly damaging	Het
Setd5	C	A	6: 113,121,010 (GRCm39)	P1073Q	possibly damaging	Het
Sh2d5	T	G	4: 137,984,150 (GRCm39)	C173G	probably benign	Het
Slc4a10	T	G	2: 62,080,823 (GRCm39)	V350G	probably damaging	Het
Slco1a6	A	G	6: 142,106,743 (GRCm39)	C15R	probably damaging	Het
Smg7	A	T	1: 152,717,295 (GRCm39)	F940Y	possibly damaging	Het
Spata17	T	A	1: 186,854,833 (GRCm39)		probably null	Het
Specc1	A	G	11: 62,019,210 (GRCm39)	N603S	possibly damaging	Het
Tbc1d1	A	G	5: 64,421,673 (GRCm39)	D355G	probably damaging	Het
Thbs2	T	C	17: 14,894,426 (GRCm39)	D807G	probably benign	Het
Usp53	T	C	3: 122,754,934 (GRCm39)	T174A	probably benign	Het
Vmn2r52	A	G	7: 9,907,274 (GRCm39)	Y151H	probably benign	Het
Wdr12	G	A	1: 60,136,748 (GRCm39)		probably benign	Het

Other mutations in Rreb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7874:Rreb1	UTSW	13	38,131,100 (GRCm39)	missense	probably damaging	1.00
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'- GGAAAGAGAGCTTGTCCACTTC -3'
(R):5'- TACTGGGTAAGGCTATGGCAC -3'

Sequencing Primer
(F):5'- TCCACTTCTGGGAAGGAATGTAGC -3'
(R):5'- TAAGGCTATGGCACGAGCTG -3'

Posted On

2019-10-24