Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02739:Rreb1'

305792

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rreb1

Ensembl Gene

ENSMUSG00000039087

Gene Name

ras responsive element binding protein 1

Synonyms

1110037N09Rik, B930013M22Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

IGL02739

Quality Score

Status

Chromosome

Chromosomal Location

37778400-37952005 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37893821 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 3 (S3L)

Ref Sequence

ENSEMBL: ENSMUSP00000121211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037232] [ENSMUST00000110237] [ENSMUST00000110238] [ENSMUST00000122842] [ENSMUST00000124373] [ENSMUST00000128570] [ENSMUST00000138043] [ENSMUST00000138110] [ENSMUST00000149745]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000037232
AA Change: S3L

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

SMART Domains

Protein: ENSMUSP00000049265
Gene: ENSMUSG00000039087
AA Change: S3L

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: S3L

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

SMART Domains

Protein: ENSMUSP00000105866
Gene: ENSMUSG00000039087
AA Change: S3L

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: S3L

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

SMART Domains

Protein: ENSMUSP00000105867
Gene: ENSMUSG00000039087
AA Change: S3L

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: ENSMUST00000122842
AA Change: S3L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124268

Predicted Effect

probably damaging
Transcript: ENSMUST00000124373
AA Change: S3L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000128570
AA Change: S3L

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

SMART Domains

Protein: ENSMUSP00000115599
Gene: ENSMUSG00000039087
AA Change: S3L

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

possibly damaging
Transcript: ENSMUST00000138043
AA Change: S3L

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138110
AA Change: S3L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000149745
AA Change: S3L

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

SMART Domains

Protein: ENSMUSP00000121211
Gene: ENSMUSG00000039087
AA Change: S3L

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 76,878,517 (GRCm38)	C887S	possibly damaging	Het
Adamdec1	C	A	14: 68,570,156 (GRCm38)	E352*	probably null	Het
Bglap2	A	T	3: 88,378,012 (GRCm38)		probably null	Het
Bsn	A	T	9: 108,112,546 (GRCm38)	H2002Q	probably benign	Het
Chtop	T	A	3: 90,502,250 (GRCm38)	Q165L	possibly damaging	Het
Clcn1	A	T	6: 42,286,780 (GRCm38)		probably null	Het
Ctsr	T	C	13: 61,161,844 (GRCm38)	T184A	probably benign	Het
Defb36	T	C	2: 152,604,519 (GRCm38)	L11P	unknown	Het
Dock8	A	G	19: 25,188,488 (GRCm38)	E1912G	probably damaging	Het
Dpp3	A	G	19: 4,923,728 (GRCm38)	Y106H	probably damaging	Het
Epas1	A	G	17: 86,805,282 (GRCm38)	T103A	probably damaging	Het
Epcam	A	T	17: 87,640,494 (GRCm38)	T131S	probably benign	Het
Fam169a	A	G	13: 97,094,055 (GRCm38)		probably benign	Het
Gh	T	A	11: 106,301,733 (GRCm38)		probably benign	Het
Kif20a	A	T	18: 34,628,943 (GRCm38)	K399*	probably null	Het
Lrp1b	A	G	2: 41,498,215 (GRCm38)	I466T	probably damaging	Het
Nlk	A	G	11: 78,574,851 (GRCm38)	V409A	probably benign	Het
Nomo1	A	G	7: 46,044,307 (GRCm38)		probably null	Het
Nr2c1	T	A	10: 94,156,972 (GRCm38)	M16K	probably damaging	Het
Nxph2	A	T	2: 23,399,900 (GRCm38)	Q88L	probably benign	Het
Olfr33	A	G	7: 102,714,314 (GRCm38)	I33T	possibly damaging	Het
Pkdrej	T	A	15: 85,819,694 (GRCm38)	R680S	probably benign	Het
Pkhd1l1	A	T	15: 44,540,950 (GRCm38)	N2325I	probably benign	Het
Pnliprp2	T	C	19: 58,760,509 (GRCm38)		probably null	Het
Ppp1r42	T	A	1: 9,968,853 (GRCm38)	K347N	probably benign	Het
Prtg	T	C	9: 72,851,585 (GRCm38)	V407A	possibly damaging	Het
Psmb8	C	A	17: 34,200,754 (GRCm38)	S194*	probably null	Het
Rnf214	T	C	9: 45,869,474 (GRCm38)	I406V	probably benign	Het
Sdad1	C	T	5: 92,290,072 (GRCm38)	A539T	probably benign	Het
Sema3a	A	G	5: 13,451,161 (GRCm38)	Y57C	probably damaging	Het
Susd5	A	G	9: 114,096,033 (GRCm38)	E328G	possibly damaging	Het
Syngr3	T	C	17: 24,686,398 (GRCm38)	T175A	probably damaging	Het
Tcf20	T	A	15: 82,856,080 (GRCm38)	Q390L	probably damaging	Het
Tex15	A	G	8: 33,581,693 (GRCm38)	T2423A	possibly damaging	Het
Tlr1	T	C	5: 64,927,126 (GRCm38)	N36S	probably benign	Het
Uchl4	C	T	9: 64,235,537 (GRCm38)	T100M	probably damaging	Het
Uhrf1	A	G	17: 56,305,129 (GRCm38)	K11R	probably benign	Het
Vps13b	T	A	15: 35,879,900 (GRCm38)	D3040E	probably damaging	Het
Wdr62	A	T	7: 30,242,460 (GRCm38)	Y640*	probably null	Het
Zkscan17	T	G	11: 59,503,526 (GRCm38)	E83A	probably damaging	Het

Other mutations in Rreb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Rreb1	APN	13	37,916,496 (GRCm38)	missense	probably benign	0.09
IGL00336:Rreb1	APN	13	37,929,646 (GRCm38)	nonsense	probably null
IGL00473:Rreb1	APN	13	37,930,791 (GRCm38)	nonsense	probably null
IGL01338:Rreb1	APN	13	37,931,034 (GRCm38)	missense	probably damaging	1.00
IGL01836:Rreb1	APN	13	37,931,457 (GRCm38)	missense	probably damaging	1.00
IGL02066:Rreb1	APN	13	37,931,506 (GRCm38)	missense	probably benign	0.16
IGL02661:Rreb1	APN	13	37,930,802 (GRCm38)	nonsense	probably null
IGL03267:Rreb1	APN	13	37,932,193 (GRCm38)	missense	probably benign	0.30
IGL03332:Rreb1	APN	13	37,930,916 (GRCm38)	missense	probably benign	0.42
IGL03403:Rreb1	APN	13	37,929,574 (GRCm38)	missense	possibly damaging	0.78
R0039:Rreb1	UTSW	13	37,899,637 (GRCm38)	missense	probably damaging	1.00
R0039:Rreb1	UTSW	13	37,899,637 (GRCm38)	missense	probably damaging	1.00
R0101:Rreb1	UTSW	13	37,931,542 (GRCm38)	missense	probably benign	0.04
R0265:Rreb1	UTSW	13	37,916,155 (GRCm38)	nonsense	probably null
R0635:Rreb1	UTSW	13	37,941,564 (GRCm38)	missense	possibly damaging	0.92
R0939:Rreb1	UTSW	13	37,932,231 (GRCm38)	missense	probably benign	0.09
R1099:Rreb1	UTSW	13	37,948,891 (GRCm38)	missense	probably benign	0.16
R1438:Rreb1	UTSW	13	37,930,605 (GRCm38)	missense	probably benign	0.16
R1457:Rreb1	UTSW	13	37,946,928 (GRCm38)	missense	possibly damaging	0.52
R1510:Rreb1	UTSW	13	37,931,884 (GRCm38)	missense	probably benign	0.04
R1672:Rreb1	UTSW	13	37,930,537 (GRCm38)	missense	probably benign	0.09
R1772:Rreb1	UTSW	13	37,930,923 (GRCm38)	missense	probably benign	0.09
R2171:Rreb1	UTSW	13	37,930,846 (GRCm38)	missense	probably benign	0.00
R2371:Rreb1	UTSW	13	37,916,537 (GRCm38)	missense	probably benign	0.09
R2566:Rreb1	UTSW	13	37,929,792 (GRCm38)	missense	possibly damaging	0.62
R2571:Rreb1	UTSW	13	37,899,637 (GRCm38)	missense	probably damaging	1.00
R2862:Rreb1	UTSW	13	37,932,453 (GRCm38)	missense	probably benign	0.02
R2874:Rreb1	UTSW	13	37,916,508 (GRCm38)	missense	probably benign	0.09
R2911:Rreb1	UTSW	13	37,948,920 (GRCm38)	missense	probably benign	0.00
R3722:Rreb1	UTSW	13	37,947,098 (GRCm38)	missense	probably benign	0.01
R3767:Rreb1	UTSW	13	37,929,603 (GRCm38)	missense	possibly damaging	0.95
R3770:Rreb1	UTSW	13	37,929,603 (GRCm38)	missense	possibly damaging	0.95
R3885:Rreb1	UTSW	13	37,893,965 (GRCm38)	missense	probably damaging	1.00
R3886:Rreb1	UTSW	13	37,898,506 (GRCm38)	splice site	probably null
R3887:Rreb1	UTSW	13	37,893,965 (GRCm38)	missense	probably damaging	1.00
R3888:Rreb1	UTSW	13	37,893,965 (GRCm38)	missense	probably damaging	1.00
R3889:Rreb1	UTSW	13	37,893,965 (GRCm38)	missense	probably damaging	1.00
R4064:Rreb1	UTSW	13	37,930,317 (GRCm38)	missense	probably benign	0.42
R4134:Rreb1	UTSW	13	37,947,123 (GRCm38)	missense	probably damaging	1.00
R4135:Rreb1	UTSW	13	37,947,123 (GRCm38)	missense	probably damaging	1.00
R4174:Rreb1	UTSW	13	37,930,150 (GRCm38)	missense	possibly damaging	0.95
R4250:Rreb1	UTSW	13	37,893,893 (GRCm38)	missense	possibly damaging	0.63
R4287:Rreb1	UTSW	13	37,931,931 (GRCm38)	missense	probably benign	0.03
R4396:Rreb1	UTSW	13	37,930,443 (GRCm38)	nonsense	probably null
R4658:Rreb1	UTSW	13	37,948,801 (GRCm38)	missense	probably damaging	1.00
R4841:Rreb1	UTSW	13	37,916,526 (GRCm38)	missense	probably benign	0.09
R4856:Rreb1	UTSW	13	37,931,058 (GRCm38)	missense	possibly damaging	0.62
R4886:Rreb1	UTSW	13	37,931,058 (GRCm38)	missense	possibly damaging	0.62
R5092:Rreb1	UTSW	13	37,928,278 (GRCm38)	missense	probably benign	0.09
R5122:Rreb1	UTSW	13	37,930,768 (GRCm38)	missense	probably benign	0.02
R5405:Rreb1	UTSW	13	37,949,111 (GRCm38)	missense	probably damaging	0.99
R5408:Rreb1	UTSW	13	37,931,344 (GRCm38)	missense	probably benign	0.01
R5446:Rreb1	UTSW	13	37,898,497 (GRCm38)	missense	possibly damaging	0.78
R5641:Rreb1	UTSW	13	37,947,421 (GRCm38)	missense	probably benign	0.00
R5859:Rreb1	UTSW	13	37,947,409 (GRCm38)	missense	probably benign	0.06
R5859:Rreb1	UTSW	13	37,947,408 (GRCm38)	missense	probably benign	0.24
R6429:Rreb1	UTSW	13	37,932,129 (GRCm38)	missense	probably benign	0.03
R6678:Rreb1	UTSW	13	37,899,699 (GRCm38)	missense	probably damaging	1.00
R7130:Rreb1	UTSW	13	37,899,748 (GRCm38)	missense	probably damaging	1.00
R7186:Rreb1	UTSW	13	37,941,632 (GRCm38)	missense	probably benign	0.02
R7188:Rreb1	UTSW	13	37,916,568 (GRCm38)	missense	possibly damaging	0.79
R7387:Rreb1	UTSW	13	37,947,064 (GRCm38)	missense	unknown
R7453:Rreb1	UTSW	13	37,941,569 (GRCm38)	missense	probably damaging	0.98
R7492:Rreb1	UTSW	13	37,931,748 (GRCm38)	missense	probably benign	0.00
R7585:Rreb1	UTSW	13	37,893,898 (GRCm38)	missense	probably benign	0.07
R7621:Rreb1	UTSW	13	37,949,066 (GRCm38)	missense
R7645:Rreb1	UTSW	13	37,931,034 (GRCm38)	missense	probably damaging	1.00
R7653:Rreb1	UTSW	13	37,930,386 (GRCm38)	missense	probably benign	0.19
R7670:Rreb1	UTSW	13	37,931,572 (GRCm38)	missense	probably benign	0.00
R7701:Rreb1	UTSW	13	37,930,116 (GRCm38)	missense	possibly damaging	0.60
R7708:Rreb1	UTSW	13	37,929,570 (GRCm38)	missense	probably benign	0.18
R7874:Rreb1	UTSW	13	37,947,124 (GRCm38)	missense	probably damaging	1.00
R8103:Rreb1	UTSW	13	37,941,701 (GRCm38)	missense	probably benign	0.16
R8129:Rreb1	UTSW	13	37,929,799 (GRCm38)	missense	probably benign	0.00
R8239:Rreb1	UTSW	13	37,893,872 (GRCm38)	missense	probably damaging	1.00
R8324:Rreb1	UTSW	13	37,947,621 (GRCm38)	missense	probably damaging	1.00
R8824:Rreb1	UTSW	13	37,930,516 (GRCm38)	missense	probably damaging	0.99
R8910:Rreb1	UTSW	13	37,948,765 (GRCm38)	missense
R8992:Rreb1	UTSW	13	37,930,376 (GRCm38)	missense	probably benign	0.30
R9064:Rreb1	UTSW	13	37,931,350 (GRCm38)	missense	possibly damaging	0.94
R9087:Rreb1	UTSW	13	37,931,668 (GRCm38)	missense	probably benign	0.33
R9130:Rreb1	UTSW	13	37,930,306 (GRCm38)	missense	probably benign	0.29
R9582:Rreb1	UTSW	13	37,930,758 (GRCm38)	missense	probably benign	0.29
R9602:Rreb1	UTSW	13	37,930,501 (GRCm38)	missense	probably damaging	0.99
R9774:Rreb1	UTSW	13	37,930,209 (GRCm38)	missense	probably benign	0.18
X0024:Rreb1	UTSW	13	37,931,580 (GRCm38)	missense	probably benign	0.09
X0026:Rreb1	UTSW	13	37,931,992 (GRCm38)	missense	probably benign	0.17
Z1088:Rreb1	UTSW	13	37,948,937 (GRCm38)	missense	probably benign

Posted On

2015-04-16