Mutagenetix > Incidental Mutation

Incidental Mutation 'R4287:Rreb1'

322074

Institutional Source

Beutler Lab

Gene Symbol

Rreb1

Ensembl Gene

ENSMUSG00000039087

Gene Name

ras responsive element binding protein 1

Synonyms

1110037N09Rik, B930013M22Rik

MMRRC Submission

041652-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R4287 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37962376-38135981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38115907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1089 (T1089S)

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: T1089S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000049265
Gene: ENSMUSG00000039087
AA Change: T1089S

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: T1089S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105866
Gene: ENSMUSG00000039087
AA Change: T1089S

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: T1089S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105867
Gene: ENSMUSG00000039087
AA Change: T1089S

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: T1089S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000115599
Gene: ENSMUSG00000039087
AA Change: T1089S

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: T1089S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000121211
Gene: ENSMUSG00000039087
AA Change: T1089S

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

Meta Mutation Damage Score

0.0923

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (40/41)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc5	A	G	5: 122,938,664 (GRCm39)	V362A	probably benign	Het
Ash1l	T	A	3: 88,973,722 (GRCm39)	C2594S	probably damaging	Het
Ccdc82	C	A	9: 13,253,043 (GRCm39)	Q303K	probably benign	Het
Cog1	A	G	11: 113,544,853 (GRCm39)	Y345C	probably damaging	Het
Fpgt	T	C	3: 154,796,997 (GRCm39)		probably benign	Het
Glrb	A	T	3: 80,752,539 (GRCm39)	V408D	possibly damaging	Het
Gm7135	A	G	1: 97,328,123 (GRCm39)		noncoding transcript	Het
Il1rn	T	C	2: 24,239,557 (GRCm39)	L151P	probably damaging	Het
Itgav	G	T	2: 83,555,184 (GRCm39)	E36*	probably null	Het
Kidins220	G	A	12: 25,106,845 (GRCm39)	E1433K	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klra3	A	G	6: 130,311,265 (GRCm39)	C39R	probably benign	Het
Lce1i	A	G	3: 92,684,742 (GRCm39)	S145P	unknown	Het
Memo1	T	C	17: 74,562,293 (GRCm39)		probably null	Het
Mpp3	G	A	11: 101,914,289 (GRCm39)	A102V	probably damaging	Het
Mug2	T	A	6: 122,040,632 (GRCm39)	D727E	probably benign	Het
Ndufb8	T	C	19: 44,541,130 (GRCm39)	I107V	probably benign	Het
Or5h18	A	T	16: 58,847,976 (GRCm39)	M98K	probably benign	Het
Pnn	C	T	12: 59,118,956 (GRCm39)	T513I	possibly damaging	Het
Ric8a	A	G	7: 140,441,335 (GRCm39)	Y210C	probably damaging	Het
Ripor2	G	A	13: 24,908,992 (GRCm39)	V1037M	probably damaging	Het
Rrs1	C	T	1: 9,616,440 (GRCm39)	S231L	probably damaging	Het
Rrs1	C	T	1: 9,616,448 (GRCm39)	R234C	possibly damaging	Het
Sec23ip	A	G	7: 128,379,057 (GRCm39)	D838G	probably benign	Het
Setbp1	T	C	18: 78,902,276 (GRCm39)	I464V	probably benign	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
Slc41a3	A	T	6: 90,617,904 (GRCm39)	H310L	probably benign	Het
Smurf1	A	G	5: 144,828,268 (GRCm39)	S363P	probably benign	Het
Tln1	C	T	4: 43,543,509 (GRCm39)	R1269Q	probably benign	Het
Tmed3	A	G	9: 89,586,951 (GRCm39)	S10P	probably benign	Het
Tomm70a	T	G	16: 56,960,985 (GRCm39)	Y313D	probably damaging	Het
Umodl1	A	G	17: 31,207,039 (GRCm39)	E810G	probably benign	Het
Unc5c	T	C	3: 141,420,435 (GRCm39)	I52T	probably damaging	Het
Unc5d	T	A	8: 29,209,824 (GRCm39)	Y432F	probably benign	Het
Vmn2r97	A	T	17: 19,168,337 (GRCm39)		probably benign	Het
Zfp629	T	C	7: 127,211,110 (GRCm39)	Y233C	probably damaging	Het
Zfp986	T	C	4: 145,619,088 (GRCm39)		probably null	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
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'- CAGCAATACTCCCCTCTTGG -3'
(R):5'- TCGATGCTAGCAAACTCCC -3'

Sequencing Primer
(F):5'- CTTGAACAACCCAGCCTT -3'
(R):5'- GGCCCTTGTTCAGTAGGCAAG -3'

Posted On

2015-06-20