Mutagenetix > Incidental Mutation

Incidental Mutation 'R8910:Rreb1'

678576

Institutional Source

Beutler Lab

Gene Symbol

Rreb1

Ensembl Gene

ENSMUSG00000039087

Gene Name

ras responsive element binding protein 1

Synonyms

1110037N09Rik, B930013M22Rik

MMRRC Submission

068701-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R8910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37962376-38135981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38132741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 204 (K204E)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037232
AA Change: K1639E

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049265
Gene: ENSMUSG00000039087
AA Change: K1639E

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

possibly damaging
Transcript: ENSMUST00000128570
AA Change: K1639E

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115599
Gene: ENSMUSG00000039087
AA Change: K1639E

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: K204E

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,768 (GRCm39)	I1058V	probably benign	Het
Abca5	T	C	11: 110,189,030 (GRCm39)	E809G	probably damaging	Het
Akap12	A	T	10: 4,263,822 (GRCm39)	Q77L	probably benign	Het
Aldh5a1	A	G	13: 25,102,599 (GRCm39)	V288A	probably damaging	Het
Alox5	C	A	6: 116,389,510 (GRCm39)	E586*	probably null	Het
Anxa2r1	T	A	13: 120,508,356 (GRCm39)		probably benign	Het
Arid5b	A	G	10: 67,934,108 (GRCm39)	F598S		Het
Btc	A	C	5: 91,508,671 (GRCm39)	M157R	probably benign	Het
Cadps2	T	C	6: 23,344,223 (GRCm39)	N908S	probably benign	Het
Cd244a	C	A	1: 171,386,941 (GRCm39)	H17N	probably damaging	Het
Cdh15	T	C	8: 123,575,240 (GRCm39)	L5P	probably benign	Het
Cep15	A	G	14: 12,285,444 (GRCm38)	H10R	probably benign	Het
Cept1	A	C	3: 106,446,565 (GRCm39)	S94A	probably benign	Het
Cntn4	T	C	6: 106,632,497 (GRCm39)	M507T	probably benign	Het
Cpne4	A	G	9: 104,799,706 (GRCm39)		probably benign	Het
Dffb	T	C	4: 154,057,416 (GRCm39)	D87G	possibly damaging	Het
Dlgap1	C	T	17: 71,093,815 (GRCm39)	T712I	probably damaging	Het
Dnhd1	A	C	7: 105,332,904 (GRCm39)	H155P	possibly damaging	Het
Dpyd	A	G	3: 118,404,167 (GRCm39)	K38R	probably benign	Het
Evx1	C	T	6: 52,293,746 (GRCm39)	R305C	probably damaging	Het
Ezr	A	G	17: 7,023,299 (GRCm39)	L47P	probably damaging	Het
Fabp6	C	T	11: 43,492,335 (GRCm39)	A2T	possibly damaging	Het
Fam78a	G	A	2: 31,959,681 (GRCm39)	T143M	probably damaging	Het
Fam83h	C	T	15: 75,874,844 (GRCm39)	G831D	probably benign	Het
Fermt2	G	A	14: 45,702,389 (GRCm39)	A465V	probably damaging	Het
Fras1	T	C	5: 96,715,855 (GRCm39)	S358P	probably benign	Het
Frem1	C	A	4: 82,868,694 (GRCm39)	G1429V	probably benign	Het
Fst	T	A	13: 114,590,245 (GRCm39)		probably benign	Het
Gfpt1	T	C	6: 87,030,787 (GRCm39)	I57T	probably benign	Het
Gimap6	A	G	6: 48,679,388 (GRCm39)	I216T	probably damaging	Het
Gm10267	T	A	18: 44,289,511 (GRCm39)	N73I	possibly damaging	Het
H2-M2	G	A	17: 37,792,413 (GRCm39)	T286I	probably damaging	Het
Hgs	T	C	11: 120,369,202 (GRCm39)		probably null	Het
Klra6	T	C	6: 129,993,647 (GRCm39)	E208G	probably benign	Het
L3mbtl1	A	T	2: 162,812,213 (GRCm39)	T753S	probably benign	Het
Larp6	A	G	9: 60,620,526 (GRCm39)	E13G	probably benign	Het
Mroh2b	A	G	15: 4,960,855 (GRCm39)	I806V	probably benign	Het
Myo1g	T	C	11: 6,468,009 (GRCm39)	N142S	possibly damaging	Het
Myo3a	A	G	2: 22,464,280 (GRCm39)	T1112A	probably benign	Het
Or4b1b	C	A	2: 90,126,848 (GRCm39)	R119L	possibly damaging	Het
Pelp1	A	T	11: 70,287,461 (GRCm39)	M449K	probably damaging	Het
Ppp4r1	T	C	17: 66,144,768 (GRCm39)	V795A	probably damaging	Het
Ppp4r3b	G	T	11: 29,146,290 (GRCm39)	M372I	probably null	Het
Ptprk	T	C	10: 28,368,993 (GRCm39)	V655A	possibly damaging	Het
Rad51d	T	C	11: 82,773,793 (GRCm39)	R166G	probably damaging	Het
Rbm19	T	A	5: 120,271,844 (GRCm39)	Y650N	probably damaging	Het
Ryr1	A	G	7: 28,771,340 (GRCm39)	L2567P	probably damaging	Het
Scn3a	T	A	2: 65,338,883 (GRCm39)	S599C	probably damaging	Het
Slc7a15	T	A	12: 8,589,117 (GRCm39)		probably benign	Het
Taf6	T	C	5: 138,182,716 (GRCm39)	T12A	probably benign	Het
Tbc1d10b	T	C	7: 126,806,938 (GRCm39)	T200A	probably benign	Het
Tex21	C	T	12: 76,263,533 (GRCm39)		probably benign	Het
Thap4	T	C	1: 93,642,666 (GRCm39)	H515R	probably damaging	Het
Tmem94	A	G	11: 115,688,252 (GRCm39)	Q1237R	probably damaging	Het
Tppp3	A	G	8: 106,194,924 (GRCm39)	V69A	probably benign	Het
Unc5a	A	G	13: 55,151,401 (GRCm39)	E695G	possibly damaging	Het
Wtip	G	A	7: 33,832,063 (GRCm39)	P141L	possibly damaging	Het
Wwp1	A	T	4: 19,627,741 (GRCm39)	M718K	possibly damaging	Het
Zbtb25	A	C	12: 76,395,908 (GRCm39)	V438G	probably damaging	Het
Zfp444	T	C	7: 6,187,026 (GRCm39)	L46P	probably damaging	Het
Zfp521	T	C	18: 13,977,233 (GRCm39)	H1060R	probably benign	Het
Zkscan14	A	G	5: 145,132,190 (GRCm39)	F447S	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
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
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'- AACCAGTGGCCTTTGTGTTAATG -3'
(R):5'- GGTCTGTTTCACCTGGAGAC -3'

Sequencing Primer
(F):5'- TGTGTTAATGGACGTCTCCC -3'
(R):5'- TGTTTCACCTGGAGACGCCTG -3'

Posted On

2021-08-02