Mutagenetix > Incidental Mutation

Incidental Mutation 'R0939:Rreb1'

81330

Institutional Source

Beutler Lab

Gene Symbol

Rreb1

Ensembl Gene

ENSMUSG00000039087

Gene Name

ras responsive element binding protein 1

Synonyms

1110037N09Rik, B930013M22Rik

MMRRC Submission

039078-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R0939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37962376-38135981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38116207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1189 (M1189V)

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: M1189V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000049265
Gene: ENSMUSG00000039087
AA Change: M1189V

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: M1189V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105866
Gene: ENSMUSG00000039087
AA Change: M1189V

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: M1189V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105867
Gene: ENSMUSG00000039087
AA Change: M1189V

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: M1189V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000115599
Gene: ENSMUSG00000039087
AA Change: M1189V

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: M1189V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000121211
Gene: ENSMUSG00000039087
AA Change: M1189V

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: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.7%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,902,969 (GRCm39)	V419M	probably damaging	Het
Cdcp1	A	G	9: 123,012,755 (GRCm39)	V264A	probably damaging	Het
Cfap53	A	G	18: 74,438,801 (GRCm39)	D326G	probably null	Het
Dach1	A	G	14: 98,153,360 (GRCm39)	V436A	probably damaging	Het
Dnah11	C	T	12: 118,024,142 (GRCm39)	G1870S	probably damaging	Het
Dst	C	A	1: 34,283,464 (GRCm39)	H5324N	probably damaging	Het
Eapp	TTTCTTCTTCTTCTTCTT	TTTCTTCTTCTTCTT	12: 54,732,734 (GRCm39)		probably benign	Het
Esd	C	A	14: 74,973,467 (GRCm39)	H21N	probably damaging	Het
Gnmt	A	G	17: 47,037,271 (GRCm39)	L171P	probably damaging	Het
Igdcc4	T	A	9: 65,038,755 (GRCm39)		probably null	Het
Mug1	A	T	6: 121,861,308 (GRCm39)	I1310F	possibly damaging	Het
Mybpc2	T	C	7: 44,156,311 (GRCm39)	K834R	probably benign	Het
Or10a3b	T	A	7: 108,444,440 (GRCm39)	Y259F	probably damaging	Het
Or10h5	T	C	17: 33,434,635 (GRCm39)	K231E	possibly damaging	Het
Or9g19	T	A	2: 85,600,997 (GRCm39)	L284*	probably null	Het
Pcdh17	A	G	14: 84,685,195 (GRCm39)	D554G	probably damaging	Het
Plcxd3	T	A	15: 4,546,344 (GRCm39)	L116*	probably null	Het
Prss1	A	C	6: 41,440,522 (GRCm39)	D199A	probably damaging	Het
Rbms3	C	T	9: 116,939,028 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Slc25a39	T	C	11: 102,295,877 (GRCm39)	E118G	probably damaging	Het
Slfn5	G	T	11: 82,852,164 (GRCm39)	M763I	probably benign	Het
Speer4f2	A	G	5: 17,579,402 (GRCm39)	E67G	probably damaging	Het
Spef2	A	T	15: 9,704,636 (GRCm39)		probably null	Het
Spocd1	A	T	4: 129,842,663 (GRCm39)	D26V	possibly damaging	Het
Ssh1	A	G	5: 114,108,497 (GRCm39)	L50P	probably damaging	Het
Tle1	A	G	4: 72,036,771 (GRCm39)	L728P	probably damaging	Het
Trio	A	G	15: 27,741,336 (GRCm39)		probably null	Het
Tubb1	G	A	2: 174,297,549 (GRCm39)	E53K	probably damaging	Het
Vmn2r71	A	T	7: 85,272,889 (GRCm39)	T568S	possibly damaging	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
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
R7621:Rreb1	UTSW	13	38,133,042 (GRCm39)	missense
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'- CTGAGGAAGCCTTGCCTACTGAAC -3'
(R):5'- CAGATAAGCCTTGGTGGCTCAGAC -3'

Sequencing Primer
(F):5'- CCTACTGAACAAGGGCCG -3'
(R):5'- AACAGCCTGTGACTTCTGAG -3'

Posted On

2013-11-07