Mutagenetix > Incidental Mutation

Incidental Mutation 'R8824:Rreb1'

673344

Institutional Source

Beutler Lab

Gene Symbol

Rreb1

Ensembl Gene

ENSMUSG00000039087

Gene Name

ras responsive element binding protein 1

Synonyms

1110037N09Rik, B930013M22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R8824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37778400-37952005 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37930516 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 617 (T617I)

Ref Sequence

ENSEMBL: ENSMUSP00000105867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037232] [ENSMUST00000110237] [ENSMUST00000110238] [ENSMUST00000124373] [ENSMUST00000128570] [ENSMUST00000149745]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000037232
AA Change: T617I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049265
Gene: ENSMUSG00000039087
AA Change: T617I

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 damaging
Transcript: ENSMUST00000110237
AA Change: T617I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105866
Gene: ENSMUSG00000039087
AA Change: T617I

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 damaging
Transcript: ENSMUST00000110238
AA Change: T617I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105867
Gene: ENSMUSG00000039087
AA Change: T617I

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: ENSMUST00000124373

Predicted Effect

probably damaging
Transcript: ENSMUST00000128570
AA Change: T617I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115599
Gene: ENSMUSG00000039087
AA Change: T617I

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 damaging
Transcript: ENSMUST00000149745
AA Change: T617I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121211
Gene: ENSMUSG00000039087
AA Change: T617I

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

0.2528

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,862,850	V260D	probably damaging	Het
Adora2a	G	A	10: 75,326,179	A51T	probably damaging	Het
Afg1l	G	A	10: 42,438,387	P128S	possibly damaging	Het
Ago4	C	A	4: 126,507,184	V623L	probably benign	Het
Akap11	A	T	14: 78,516,347	N112K		Het
C1ra	A	T	6: 124,517,695	I306F	probably damaging	Het
Ccdc73	A	G	2: 104,991,877	N724D	possibly damaging	Het
Cd248	A	G	19: 5,069,617	I498V	probably benign	Het
Clrn1	A	T	3: 58,884,893	S50T	probably benign	Het
Col7a1	A	G	9: 108,967,025	K1553R	unknown	Het
Cxcr6	A	C	9: 123,810,941	T343P	probably benign	Het
Cyp11b2	T	A	15: 74,856,065	Q56L	probably damaging	Het
Dip2a	A	G	10: 76,278,486		probably null	Het
Dnmbp	A	G	19: 43,849,837	V742A	probably benign	Het
Dusp16	A	T	6: 134,739,769	S192T	probably benign	Het
Ehbp1	A	T	11: 22,232,053	D87E	probably damaging	Het
Fgl1	A	G	8: 41,199,711	V150A	probably benign	Het
Flt3	T	C	5: 147,334,863	D873G	probably damaging	Het
Gart	T	C	16: 91,630,703	D469G	possibly damaging	Het
Gm28168	T	G	1: 117,947,895	S85A	probably benign	Het
Golgb1	A	G	16: 36,915,689	D1807G	probably benign	Het
Grm8	A	G	6: 27,761,352	L291S	probably damaging	Het
Gucy2d	C	T	7: 98,443,469	P18S	possibly damaging	Het
Ifna15	C	T	4: 88,557,761	C162Y	probably damaging	Het
Iqub	C	A	6: 24,479,308	E412*	probably null	Het
Krt4	T	A	15: 101,920,642	D312V		Het
Krtap26-1	A	T	16: 88,647,415	I106N	probably damaging	Het
Krtap26-1	T	C	16: 88,647,436	Y99C	probably damaging	Het
Lipn	T	C	19: 34,084,716	I357T	probably benign	Het
Lrrc14b	A	G	13: 74,363,949	L4P	probably damaging	Het
Mrgpra9	A	T	7: 47,235,293	C209S	probably benign	Het
Myh7b	A	G	2: 155,630,381	N1291D	probably benign	Het
Myo5a	A	G	9: 75,167,046	T746A	probably damaging	Het
Myom2	A	C	8: 15,114,169	E1021D	possibly damaging	Het
Ncoa2	C	T	1: 13,177,185	R338H	probably benign	Het
Ncor2	A	G	5: 125,118,757	F91L		Het
Neb	C	G	2: 52,216,911	A4407P	probably damaging	Het
Olfr1135	T	C	2: 87,671,960	M136V	possibly damaging	Het
Olfr1272	A	G	2: 90,296,012	I283T	probably damaging	Het
Olfr347	A	T	2: 36,735,191	Y290F	probably damaging	Het
Olfr502	T	G	7: 108,523,143	Y269S	probably benign	Het
Olfr74	A	G	2: 87,974,003	F221L	probably benign	Het
Olfr819	C	T	10: 129,965,792	V297M	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451		probably benign	Het
Piwil4	C	A	9: 14,727,475	K298N	probably benign	Het
Prkcz	G	A	4: 155,344,828		probably benign	Het
Prkg2	G	A	5: 98,942,208	P691L	possibly damaging	Het
Ptprc	T	A	1: 138,113,708	K89*	probably null	Het
Rapgef3	C	T	15: 97,766,908	A25T	probably benign	Het
Rsph1	A	C	17: 31,273,376	V72G	possibly damaging	Het
Shc2	A	G	10: 79,637,702	V50A	probably benign	Het
Slc38a9	G	A	13: 112,701,487	R262H	probably benign	Het
Slco6c1	T	A	1: 97,128,159	N6Y	possibly damaging	Het
Smarca5	A	G	8: 80,705,332	F886L	probably benign	Het
Tas1r2	A	G	4: 139,653,763		probably benign	Het
Tnrc6c	T	A	11: 117,739,854		probably benign	Het
Trim30b	T	A	7: 104,357,906		probably benign	Het
Trim55	T	C	3: 19,672,962	S398P	probably benign	Het
Ttc39c	T	A	18: 12,686,946		probably benign	Het
Ubxn10	A	G	4: 138,735,867		probably null	Het
Usf3	A	G	16: 44,215,613	N152S	probably benign	Het
Vps13b	T	A	15: 35,533,299	V839E	probably damaging	Het
Zeb1	T	A	18: 5,748,680		probably benign	Het
Zfp780b	T	C	7: 27,963,468	Y554C	probably benign	Het
Zhx2	C	T	15: 57,821,280	T15I	probably damaging	Het

Other mutations in Rreb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Rreb1	APN	13	37916496	missense	probably benign	0.09
IGL00336:Rreb1	APN	13	37929646	nonsense	probably null
IGL00473:Rreb1	APN	13	37930791	nonsense	probably null
IGL01338:Rreb1	APN	13	37931034	missense	probably damaging	1.00
IGL01836:Rreb1	APN	13	37931457	missense	probably damaging	1.00
IGL02066:Rreb1	APN	13	37931506	missense	probably benign	0.16
IGL02661:Rreb1	APN	13	37930802	nonsense	probably null
IGL02739:Rreb1	APN	13	37893821	missense	probably damaging	1.00
IGL03267:Rreb1	APN	13	37932193	missense	probably benign	0.30
IGL03332:Rreb1	APN	13	37930916	missense	probably benign	0.42
IGL03403:Rreb1	APN	13	37929574	missense	possibly damaging	0.78
R0039:Rreb1	UTSW	13	37899637	missense	probably damaging	1.00
R0039:Rreb1	UTSW	13	37899637	missense	probably damaging	1.00
R0101:Rreb1	UTSW	13	37931542	missense	probably benign	0.04
R0265:Rreb1	UTSW	13	37916155	nonsense	probably null
R0635:Rreb1	UTSW	13	37941564	missense	possibly damaging	0.92
R0939:Rreb1	UTSW	13	37932231	missense	probably benign	0.09
R1099:Rreb1	UTSW	13	37948891	missense	probably benign	0.16
R1438:Rreb1	UTSW	13	37930605	missense	probably benign	0.16
R1457:Rreb1	UTSW	13	37946928	missense	possibly damaging	0.52
R1510:Rreb1	UTSW	13	37931884	missense	probably benign	0.04
R1672:Rreb1	UTSW	13	37930537	missense	probably benign	0.09
R1772:Rreb1	UTSW	13	37930923	missense	probably benign	0.09
R2171:Rreb1	UTSW	13	37930846	missense	probably benign	0.00
R2371:Rreb1	UTSW	13	37916537	missense	probably benign	0.09
R2566:Rreb1	UTSW	13	37929792	missense	possibly damaging	0.62
R2571:Rreb1	UTSW	13	37899637	missense	probably damaging	1.00
R2862:Rreb1	UTSW	13	37932453	missense	probably benign	0.02
R2874:Rreb1	UTSW	13	37916508	missense	probably benign	0.09
R2911:Rreb1	UTSW	13	37948920	missense	probably benign	0.00
R3722:Rreb1	UTSW	13	37947098	missense	probably benign	0.01
R3767:Rreb1	UTSW	13	37929603	missense	possibly damaging	0.95
R3770:Rreb1	UTSW	13	37929603	missense	possibly damaging	0.95
R3885:Rreb1	UTSW	13	37893965	missense	probably damaging	1.00
R3886:Rreb1	UTSW	13	37898506	splice site	probably null
R3887:Rreb1	UTSW	13	37893965	missense	probably damaging	1.00
R3888:Rreb1	UTSW	13	37893965	missense	probably damaging	1.00
R3889:Rreb1	UTSW	13	37893965	missense	probably damaging	1.00
R4064:Rreb1	UTSW	13	37930317	missense	probably benign	0.42
R4134:Rreb1	UTSW	13	37947123	missense	probably damaging	1.00
R4135:Rreb1	UTSW	13	37947123	missense	probably damaging	1.00
R4174:Rreb1	UTSW	13	37930150	missense	possibly damaging	0.95
R4250:Rreb1	UTSW	13	37893893	missense	possibly damaging	0.63
R4287:Rreb1	UTSW	13	37931931	missense	probably benign	0.03
R4396:Rreb1	UTSW	13	37930443	nonsense	probably null
R4658:Rreb1	UTSW	13	37948801	missense	probably damaging	1.00
R4841:Rreb1	UTSW	13	37916526	missense	probably benign	0.09
R4856:Rreb1	UTSW	13	37931058	missense	possibly damaging	0.62
R4886:Rreb1	UTSW	13	37931058	missense	possibly damaging	0.62
R5092:Rreb1	UTSW	13	37928278	missense	probably benign	0.09
R5122:Rreb1	UTSW	13	37930768	missense	probably benign	0.02
R5405:Rreb1	UTSW	13	37949111	missense	probably damaging	0.99
R5408:Rreb1	UTSW	13	37931344	missense	probably benign	0.01
R5446:Rreb1	UTSW	13	37898497	missense	possibly damaging	0.78
R5641:Rreb1	UTSW	13	37947421	missense	probably benign	0.00
R5859:Rreb1	UTSW	13	37947408	missense	probably benign	0.24
R5859:Rreb1	UTSW	13	37947409	missense	probably benign	0.06
R6429:Rreb1	UTSW	13	37932129	missense	probably benign	0.03
R6678:Rreb1	UTSW	13	37899699	missense	probably damaging	1.00
R7130:Rreb1	UTSW	13	37899748	missense	probably damaging	1.00
R7186:Rreb1	UTSW	13	37941632	missense	probably benign	0.02
R7188:Rreb1	UTSW	13	37916568	missense	possibly damaging	0.79
R7387:Rreb1	UTSW	13	37947064	missense	unknown
R7453:Rreb1	UTSW	13	37941569	missense	probably damaging	0.98
R7492:Rreb1	UTSW	13	37931748	missense	probably benign	0.00
R7585:Rreb1	UTSW	13	37893898	missense	probably benign	0.07
R7621:Rreb1	UTSW	13	37949066	missense
R7645:Rreb1	UTSW	13	37931034	missense	probably damaging	1.00
R7653:Rreb1	UTSW	13	37930386	missense	probably benign	0.19
R7670:Rreb1	UTSW	13	37931572	missense	probably benign	0.00
R7701:Rreb1	UTSW	13	37930116	missense	possibly damaging	0.60
R7708:Rreb1	UTSW	13	37929570	missense	probably benign	0.18
R7874:Rreb1	UTSW	13	37947124	missense	probably damaging	1.00
R8103:Rreb1	UTSW	13	37941701	missense	probably benign	0.16
R8129:Rreb1	UTSW	13	37929799	missense	probably benign	0.00
R8239:Rreb1	UTSW	13	37893872	missense	probably damaging	1.00
R8324:Rreb1	UTSW	13	37947621	missense	probably damaging	1.00
R8910:Rreb1	UTSW	13	37948765	missense
R8992:Rreb1	UTSW	13	37930376	missense	probably benign	0.30
R9064:Rreb1	UTSW	13	37931350	missense	possibly damaging	0.94
R9087:Rreb1	UTSW	13	37931668	missense	probably benign	0.33
R9130:Rreb1	UTSW	13	37930306	missense	probably benign	0.29
R9582:Rreb1	UTSW	13	37930758	missense	probably benign	0.29
R9602:Rreb1	UTSW	13	37930501	missense	probably damaging	0.99
R9774:Rreb1	UTSW	13	37930209	missense	probably benign	0.18
X0024:Rreb1	UTSW	13	37931580	missense	probably benign	0.09
X0026:Rreb1	UTSW	13	37931992	missense	probably benign	0.17
Z1088:Rreb1	UTSW	13	37948937	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAAGTTCCTCAAGGGGTCG -3'
(R):5'- CAGCAATATAGTCACAGATGTTGC -3'

Sequencing Primer
(F):5'- AGGCAGTGTCCAATGTTCATC -3'
(R):5'- ATAGTCACAGATGTTGCATTGGTAG -3'

Posted On

2021-07-15