Mutagenetix > Incidental Mutation

Incidental Mutation 'R4135:Rreb1'

314864

Institutional Source

Beutler Lab

Gene Symbol

Rreb1

Ensembl Gene

ENSMUSG00000039087

Gene Name

ras responsive element binding protein 1

Synonyms

1110037N09Rik, B930013M22Rik

MMRRC Submission

040995-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R4135 (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 38131099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 1418 (N1418Y)

Ref Sequence

ENSEMBL: ENSMUSP00000115599 (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: N1418Y

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

SMART Domains

Protein: ENSMUSP00000049265
Gene: ENSMUSG00000039087
AA Change: N1418Y

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

noncoding transcript
Transcript: ENSMUST00000124268

Predicted Effect

probably benign
Transcript: ENSMUST00000124373

Predicted Effect

probably damaging
Transcript: ENSMUST00000128570
AA Change: N1418Y

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

SMART Domains

Protein: ENSMUSP00000115599
Gene: ENSMUSG00000039087
AA Change: N1418Y

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

unknown
Transcript: ENSMUST00000162849
AA Change: N36Y

SMART Domains

Protein: ENSMUSP00000124802
Gene: ENSMUSG00000039087
AA Change: N36Y

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

Meta Mutation Damage Score

0.1640

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (47/48)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 159,905,092 (GRCm39)		probably benign	Het
Bak1	T	A	17: 27,240,244 (GRCm39)	T148S	possibly damaging	Het
Cdc25a	C	A	9: 109,710,585 (GRCm39)	H157Q	possibly damaging	Het
Chst5	T	C	8: 112,616,816 (GRCm39)	Y268C	probably damaging	Het
Csnk1g2	T	C	10: 80,474,130 (GRCm39)	I145T	possibly damaging	Het
Ctsr	T	C	13: 61,309,084 (GRCm39)	T224A	probably benign	Het
Cux1	T	C	5: 136,336,750 (GRCm39)	K921E	probably damaging	Het
Dcaf12l1	T	C	X: 43,878,330 (GRCm39)	N156S	probably damaging	Het
Dennd2d	T	A	3: 106,389,977 (GRCm39)	D2E	probably benign	Het
Dock2	T	C	11: 34,605,328 (GRCm39)	K264E	possibly damaging	Het
Eif3c	C	G	7: 126,165,471 (GRCm39)		probably benign	Het
Gabrb3	G	T	7: 57,241,036 (GRCm39)	A5S	probably benign	Het
Gcnt2	T	A	13: 41,041,283 (GRCm39)	N147K	probably damaging	Het
Gm6987	T	A	X: 93,068,216 (GRCm39)		noncoding transcript	Het
Hbp1	A	T	12: 31,984,421 (GRCm39)	L262Q	probably damaging	Het
Hsd11b2	T	C	8: 106,249,798 (GRCm39)	V303A	probably benign	Het
Htr5a	A	G	5: 28,047,690 (GRCm39)	M82V	probably benign	Het
Mcc	T	C	18: 44,857,707 (GRCm39)	D136G	probably benign	Het
Mrpl32	C	T	13: 14,787,564 (GRCm39)	V14M	probably damaging	Het
Msl1	A	G	11: 98,687,126 (GRCm39)	D157G	possibly damaging	Het
Mthfd1	G	A	12: 76,329,648 (GRCm39)		probably null	Het
Nkx6-1	T	A	5: 101,807,371 (GRCm39)	D337V	probably damaging	Het
Nlrp5	T	C	7: 23,117,823 (GRCm39)	W516R	possibly damaging	Het
Or2ag1	A	G	7: 106,313,210 (GRCm39)	L226P	probably damaging	Het
Or2l13b	T	A	16: 19,349,452 (GRCm39)	I73F	possibly damaging	Het
Or2y3	A	G	17: 38,393,248 (GRCm39)	V207A	possibly damaging	Het
Or4l1	T	C	14: 50,166,272 (GRCm39)	H243R	probably damaging	Het
Or5af1	C	A	11: 58,722,820 (GRCm39)	T280K	probably damaging	Het
Pate5	A	G	9: 35,750,724 (GRCm39)	S33P	possibly damaging	Het
Pold3	T	A	7: 99,749,854 (GRCm39)	R104*	probably null	Het
Rapsn	A	T	2: 90,867,162 (GRCm39)	N155Y	probably damaging	Het
Rorc	C	A	3: 94,296,826 (GRCm39)	Q269K	probably damaging	Het
Rusc2	G	A	4: 43,425,563 (GRCm39)	D1223N	possibly damaging	Het
Sema6d	T	C	2: 124,506,040 (GRCm39)	I616T	probably damaging	Het
Ttc6	T	A	12: 57,679,581 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,338,810 (GRCm39)	Y58F	probably damaging	Het
Vmn2r129	T	G	4: 156,691,085 (GRCm39)		noncoding transcript	Het
Vwa5b1	A	T	4: 138,321,641 (GRCm39)	M384K	possibly damaging	Het
Washc3	G	A	10: 88,055,142 (GRCm39)	E111K	probably benign	Het
Xirp2	A	G	2: 67,355,741 (GRCm39)	S3501G	probably benign	Het
Zfp1004	A	T	2: 150,023,788 (GRCm39)		probably benign	Het
Zfp352	C	T	4: 90,113,261 (GRCm39)	T467M	probably damaging	Het
Zfp729a	C	A	13: 67,767,925 (GRCm39)	C768F	probably damaging	Het
Zfp810	T	C	9: 22,190,369 (GRCm39)	K180E	probably 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
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
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'- AGATCAGTCCGGCTTCACAG -3'
(R):5'- GTTTCTCTTCAGGCTCAGGG -3'

Sequencing Primer
(F):5'- GGACCTTGCTATCAAAGAGGCC -3'
(R):5'- CCTCATTCTCCAGCGAAGG -3'

Posted On

2015-05-14