Mutagenetix > Incidental Mutation

Incidental Mutation 'R2040:Greb1'

225560

Institutional Source

Beutler Lab

Gene Symbol

Greb1

Ensembl Gene

ENSMUSG00000036523

Gene Name

gene regulated by estrogen in breast cancer protein

Synonyms

5730583K22Rik

MMRRC Submission

040047-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2040 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16720616-16850887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16752651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 897 (H897R)

Ref Sequence

ENSEMBL: ENSMUSP00000124348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048064] [ENSMUST00000159120] [ENSMUST00000162112]

AlphaFold

Q3UHK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000048064
AA Change: H897R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044454
Gene: ENSMUSG00000036523
AA Change: H897R

Domain	Start	End	E-Value	Type
Pfam:GREB1	1	1954	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159044

Predicted Effect

probably damaging
Transcript: ENSMUST00000159120
AA Change: H869R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125339
Gene: ENSMUSG00000036523
AA Change: H869R

Domain	Start	End	E-Value	Type
low complexity region	52	71	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	437	453	N/A	INTRINSIC
low complexity region	480	503	N/A	INTRINSIC
low complexity region	631	643	N/A	INTRINSIC
low complexity region	1100	1118	N/A	INTRINSIC
low complexity region	1196	1207	N/A	INTRINSIC
low complexity region	1251	1265	N/A	INTRINSIC
low complexity region	1596	1607	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160347

SMART Domains

Protein: ENSMUSP00000124897
Gene: ENSMUSG00000036523

Domain	Start	End	E-Value	Type
Pfam:GREB1	1	121	4.5e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161036

Predicted Effect

probably damaging
Transcript: ENSMUST00000162112
AA Change: H897R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124348
Gene: ENSMUSG00000036523
AA Change: H897R

Domain	Start	End	E-Value	Type
low complexity region	52	71	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	437	453	N/A	INTRINSIC
low complexity region	480	503	N/A	INTRINSIC
low complexity region	631	643	N/A	INTRINSIC
low complexity region	1128	1146	N/A	INTRINSIC
low complexity region	1224	1235	N/A	INTRINSIC
low complexity region	1279	1293	N/A	INTRINSIC
low complexity region	1624	1635	N/A	INTRINSIC

Meta Mutation Damage Score

0.8200

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,693,607 (GRCm39)	I75L	probably benign	Het
Abca2	T	C	2: 25,333,817 (GRCm39)	L1755P	probably damaging	Het
Adam6b	A	T	12: 113,454,364 (GRCm39)	I394L	probably benign	Het
Ano2	T	A	6: 126,016,471 (GRCm39)	N1001K	probably benign	Het
Arap2	A	T	5: 62,906,259 (GRCm39)	N253K	probably damaging	Het
Ascc3	T	C	10: 50,604,227 (GRCm39)	C1316R	probably benign	Het
Atox1	T	C	11: 55,341,343 (GRCm39)	Y64C	probably benign	Het
Atp13a1	A	G	8: 70,259,702 (GRCm39)	T1098A	possibly damaging	Het
Casr	T	C	16: 36,330,728 (GRCm39)	E202G	possibly damaging	Het
Cct2	T	C	10: 116,889,018 (GRCm39)	T494A	probably benign	Het
Cd209e	T	A	8: 3,899,158 (GRCm39)	N185Y	probably damaging	Het
Celsr1	A	G	15: 85,917,088 (GRCm39)	L295P	probably damaging	Het
Cyp26a1	A	G	19: 37,686,499 (GRCm39)	T48A	possibly damaging	Het
Elovl3	A	G	19: 46,121,567 (GRCm39)	S37G	probably benign	Het
Fbh1	T	G	2: 11,774,706 (GRCm39)	D13A	possibly damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Frem3	G	T	8: 81,342,455 (GRCm39)	V1583L	possibly damaging	Het
Gm21863	C	A	12: 20,004,515 (GRCm39)	Q4K	possibly damaging	Het
Gm266	T	C	12: 111,452,132 (GRCm39)	T25A	possibly damaging	Het
Gm8674	T	C	13: 50,055,705 (GRCm39)		noncoding transcript	Het
Hells	A	G	19: 38,943,474 (GRCm39)	D565G	probably damaging	Het
Hfm1	C	T	5: 107,049,684 (GRCm39)	V426I	probably damaging	Het
Ints6	G	A	14: 62,951,138 (GRCm39)	T297I	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kmt2b	A	T	7: 30,268,845 (GRCm39)	M2628K	probably damaging	Het
Ktn1	T	G	14: 47,938,069 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,815,807 (GRCm39)	D1230E	probably benign	Het
Mboat1	T	C	13: 30,425,300 (GRCm39)		probably null	Het
Moxd2	T	C	6: 40,861,887 (GRCm39)		probably null	Het
Mtmr4	T	C	11: 87,495,916 (GRCm39)	M527T	probably damaging	Het
Myt1	T	A	2: 181,467,717 (GRCm39)	N1050K	probably damaging	Het
Ncoa6	A	T	2: 155,248,000 (GRCm39)	V1768E	probably damaging	Het
Nelfcd	G	A	2: 174,261,875 (GRCm39)	C48Y	probably damaging	Het
Opn3	G	A	1: 175,491,145 (GRCm39)	A296V	possibly damaging	Het
Or13a22	T	C	7: 140,073,295 (GRCm39)	I248T	probably benign	Het
Or2z8	T	A	8: 72,811,607 (GRCm39)	F28I	possibly damaging	Het
Pam	T	C	1: 97,792,167 (GRCm39)	E418G	possibly damaging	Het
Prrc2c	A	T	1: 162,525,126 (GRCm39)	N493K	probably damaging	Het
Ptpn18	A	G	1: 34,509,300 (GRCm39)	Q165R	probably damaging	Het
Ptpro	C	A	6: 137,363,162 (GRCm39)		probably benign	Het
Ralgapa1	A	G	12: 55,833,107 (GRCm39)	F132S	probably damaging	Het
Robo1	T	C	16: 72,730,630 (GRCm39)	C244R	probably damaging	Het
Robo3	A	C	9: 37,338,760 (GRCm39)	V316G	probably damaging	Het
Rsl1	T	C	13: 67,330,145 (GRCm39)	S198P	probably damaging	Het
Rsph9	T	C	17: 46,445,910 (GRCm39)	D220G	probably damaging	Het
Rxfp2	A	C	5: 149,993,677 (GRCm39)	I580L	probably benign	Het
Septin7	G	A	9: 25,199,532 (GRCm39)	A144T	possibly damaging	Het
Sfn	T	C	4: 133,328,603 (GRCm39)	K160E	probably benign	Het
Ski	A	G	4: 155,306,029 (GRCm39)	Y317H	probably damaging	Het
Skic3	A	C	13: 76,328,222 (GRCm39)	R1423S	probably damaging	Het
Slc22a22	A	T	15: 57,110,936 (GRCm39)	Y430*	probably null	Het
Src	A	G	2: 157,299,030 (GRCm39)	K9R	probably benign	Het
Srm	C	T	4: 148,678,453 (GRCm39)	P255L	possibly damaging	Het
Stpg4	T	A	17: 87,730,075 (GRCm39)	N90I	probably damaging	Het
Sytl2	T	A	7: 90,031,069 (GRCm39)		probably benign	Het
Tbpl2	T	C	2: 23,984,871 (GRCm39)	K92R	probably benign	Het
Tlcd4	G	T	3: 121,024,975 (GRCm39)		probably benign	Het
Tmem38a	T	A	8: 73,335,096 (GRCm39)	N178K	probably damaging	Het
Tnfaip3	T	C	10: 18,883,900 (GRCm39)	D160G	possibly damaging	Het
Vegfb	T	A	19: 6,963,407 (GRCm39)	H119L	possibly damaging	Het
Vmn2r111	T	A	17: 22,767,395 (GRCm39)	I701F	probably damaging	Het
Vmn2r95	C	T	17: 18,661,561 (GRCm39)	L436F	probably damaging	Het
Wdr47	T	C	3: 108,530,688 (GRCm39)	C394R	probably benign	Het
Ythdc2	T	A	18: 44,988,241 (GRCm39)	Y16*	probably null	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp353-ps	A	G	8: 42,535,333 (GRCm39)		noncoding transcript	Het

Other mutations in Greb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Greb1	APN	12	16,761,962 (GRCm39)	missense	probably damaging	1.00
IGL01316:Greb1	APN	12	16,748,587 (GRCm39)	missense	probably benign	0.04
IGL01464:Greb1	APN	12	16,764,827 (GRCm39)	missense	probably damaging	0.99
IGL01474:Greb1	APN	12	16,734,502 (GRCm39)	missense	probably benign
IGL01522:Greb1	APN	12	16,751,202 (GRCm39)	missense	probably damaging	1.00
IGL01824:Greb1	APN	12	16,761,717 (GRCm39)	nonsense	probably null
IGL01837:Greb1	APN	12	16,734,452 (GRCm39)	missense	probably benign	0.19
IGL01991:Greb1	APN	12	16,749,682 (GRCm39)	missense	probably damaging	1.00
IGL01996:Greb1	APN	12	16,740,846 (GRCm39)	missense	possibly damaging	0.70
IGL02213:Greb1	APN	12	16,756,233 (GRCm39)	missense	probably damaging	1.00
IGL02267:Greb1	APN	12	16,767,209 (GRCm39)	missense	probably benign	0.00
IGL02512:Greb1	APN	12	16,742,713 (GRCm39)	missense	possibly damaging	0.79
IGL02583:Greb1	APN	12	16,756,296 (GRCm39)	splice site	probably benign
IGL02613:Greb1	APN	12	16,789,889 (GRCm39)	critical splice donor site	probably null
IGL02648:Greb1	APN	12	16,758,683 (GRCm39)	missense	probably damaging	1.00
IGL02679:Greb1	APN	12	16,758,724 (GRCm39)	missense	probably damaging	1.00
begraben	UTSW	12	16,734,374 (GRCm39)	missense	possibly damaging	0.51
Eared	UTSW	12	16,723,864 (GRCm39)	missense	probably damaging	1.00
Humpback	UTSW	12	16,751,172 (GRCm39)	missense	probably damaging	1.00
pied_billed	UTSW	12	16,774,858 (GRCm39)	missense	possibly damaging	0.79
rednecked	UTSW	12	16,732,153 (GRCm39)	missense	probably damaging	0.99
G1patch:Greb1	UTSW	12	16,738,568 (GRCm39)	missense	probably damaging	1.00
IGL03048:Greb1	UTSW	12	16,783,332 (GRCm39)	missense	probably damaging	1.00
R0083:Greb1	UTSW	12	16,746,452 (GRCm39)	missense	probably benign
R0100:Greb1	UTSW	12	16,730,225 (GRCm39)	missense	probably benign	0.41
R0100:Greb1	UTSW	12	16,730,225 (GRCm39)	missense	probably benign	0.41
R0220:Greb1	UTSW	12	16,732,287 (GRCm39)	missense	probably damaging	1.00
R0245:Greb1	UTSW	12	16,746,457 (GRCm39)	missense	probably damaging	1.00
R0540:Greb1	UTSW	12	16,732,194 (GRCm39)	missense	probably damaging	1.00
R0547:Greb1	UTSW	12	16,773,412 (GRCm39)	missense	probably benign
R0563:Greb1	UTSW	12	16,730,268 (GRCm39)	missense	probably benign	0.23
R0607:Greb1	UTSW	12	16,732,194 (GRCm39)	missense	probably damaging	1.00
R0610:Greb1	UTSW	12	16,746,443 (GRCm39)	missense	probably benign
R0652:Greb1	UTSW	12	16,746,457 (GRCm39)	missense	probably damaging	1.00
R0659:Greb1	UTSW	12	16,730,213 (GRCm39)	missense	probably damaging	0.99
R0945:Greb1	UTSW	12	16,723,803 (GRCm39)	missense	probably benign	0.31
R1055:Greb1	UTSW	12	16,732,252 (GRCm39)	missense	probably damaging	0.98
R1445:Greb1	UTSW	12	16,757,852 (GRCm39)	missense	probably damaging	1.00
R1471:Greb1	UTSW	12	16,761,775 (GRCm39)	missense	probably damaging	0.97
R1503:Greb1	UTSW	12	16,774,820 (GRCm39)	nonsense	probably null
R1566:Greb1	UTSW	12	16,761,829 (GRCm39)	missense	possibly damaging	0.94
R1614:Greb1	UTSW	12	16,751,172 (GRCm39)	missense	probably damaging	1.00
R1623:Greb1	UTSW	12	16,724,771 (GRCm39)	missense	probably damaging	1.00
R1751:Greb1	UTSW	12	16,773,439 (GRCm39)	splice site	probably benign
R1778:Greb1	UTSW	12	16,740,895 (GRCm39)	missense	probably benign
R1842:Greb1	UTSW	12	16,746,244 (GRCm39)	missense	probably damaging	1.00
R2153:Greb1	UTSW	12	16,749,533 (GRCm39)	missense	probably damaging	1.00
R2178:Greb1	UTSW	12	16,746,388 (GRCm39)	missense	probably damaging	1.00
R2194:Greb1	UTSW	12	16,740,909 (GRCm39)	missense	probably benign	0.08
R2248:Greb1	UTSW	12	16,730,379 (GRCm39)	missense	possibly damaging	0.90
R2474:Greb1	UTSW	12	16,764,954 (GRCm39)	missense	possibly damaging	0.93
R2509:Greb1	UTSW	12	16,774,923 (GRCm39)	missense	probably damaging	1.00
R2860:Greb1	UTSW	12	16,761,746 (GRCm39)	missense	probably benign	0.28
R2861:Greb1	UTSW	12	16,761,746 (GRCm39)	missense	probably benign	0.28
R2862:Greb1	UTSW	12	16,761,746 (GRCm39)	missense	probably benign	0.28
R2866:Greb1	UTSW	12	16,749,551 (GRCm39)	missense	probably damaging	1.00
R2890:Greb1	UTSW	12	16,754,479 (GRCm39)	missense	probably damaging	1.00
R3056:Greb1	UTSW	12	16,738,592 (GRCm39)	missense	probably damaging	0.96
R3863:Greb1	UTSW	12	16,752,421 (GRCm39)	missense	probably damaging	1.00
R3864:Greb1	UTSW	12	16,752,421 (GRCm39)	missense	probably damaging	1.00
R3956:Greb1	UTSW	12	16,732,300 (GRCm39)	missense	probably damaging	1.00
R4493:Greb1	UTSW	12	16,748,611 (GRCm39)	missense	probably benign	0.14
R4548:Greb1	UTSW	12	16,749,676 (GRCm39)	missense	probably damaging	1.00
R4683:Greb1	UTSW	12	16,761,774 (GRCm39)	missense	possibly damaging	0.75
R4739:Greb1	UTSW	12	16,746,329 (GRCm39)	missense	probably damaging	1.00
R4770:Greb1	UTSW	12	16,731,357 (GRCm39)	missense	probably benign	0.03
R4838:Greb1	UTSW	12	16,734,361 (GRCm39)	critical splice donor site	probably null
R4925:Greb1	UTSW	12	16,731,472 (GRCm39)	missense	probably damaging	1.00
R4982:Greb1	UTSW	12	16,774,762 (GRCm39)	missense	probably damaging	0.98
R5009:Greb1	UTSW	12	16,774,858 (GRCm39)	missense	possibly damaging	0.79
R5086:Greb1	UTSW	12	16,758,023 (GRCm39)	intron	probably benign
R5213:Greb1	UTSW	12	16,764,791 (GRCm39)	nonsense	probably null
R5310:Greb1	UTSW	12	16,766,760 (GRCm39)	missense	probably benign	0.09
R5353:Greb1	UTSW	12	16,738,567 (GRCm39)	nonsense	probably null
R5544:Greb1	UTSW	12	16,723,797 (GRCm39)	missense	probably damaging	1.00
R5605:Greb1	UTSW	12	16,758,727 (GRCm39)	missense	probably damaging	0.96
R5708:Greb1	UTSW	12	16,723,843 (GRCm39)	missense	probably benign	0.11
R5837:Greb1	UTSW	12	16,738,586 (GRCm39)	missense	probably damaging	1.00
R5890:Greb1	UTSW	12	16,783,422 (GRCm39)	missense	possibly damaging	0.90
R5938:Greb1	UTSW	12	16,767,259 (GRCm39)	missense	probably damaging	1.00
R6049:Greb1	UTSW	12	16,731,395 (GRCm39)	missense	probably damaging	0.99
R6093:Greb1	UTSW	12	16,734,487 (GRCm39)	missense	probably benign
R6120:Greb1	UTSW	12	16,758,622 (GRCm39)	missense	probably damaging	0.99
R6175:Greb1	UTSW	12	16,724,771 (GRCm39)	missense	probably damaging	1.00
R6247:Greb1	UTSW	12	16,766,676 (GRCm39)	missense	probably damaging	1.00
R6274:Greb1	UTSW	12	16,785,152 (GRCm39)	missense	probably damaging	0.97
R6376:Greb1	UTSW	12	16,749,580 (GRCm39)	missense	probably damaging	0.97
R6523:Greb1	UTSW	12	16,734,374 (GRCm39)	missense	possibly damaging	0.51
R6557:Greb1	UTSW	12	16,760,384 (GRCm39)	missense	probably benign	0.00
R6602:Greb1	UTSW	12	16,759,441 (GRCm39)	missense	probably benign	0.44
R6621:Greb1	UTSW	12	16,742,718 (GRCm39)	missense	probably damaging	1.00
R6645:Greb1	UTSW	12	16,748,580 (GRCm39)	missense	probably benign	0.07
R6725:Greb1	UTSW	12	16,738,568 (GRCm39)	missense	probably damaging	1.00
R6750:Greb1	UTSW	12	16,738,584 (GRCm39)	missense	probably benign	0.05
R6863:Greb1	UTSW	12	16,734,421 (GRCm39)	missense	probably damaging	1.00
R6914:Greb1	UTSW	12	16,757,903 (GRCm39)	missense	probably damaging	0.97
R6996:Greb1	UTSW	12	16,773,355 (GRCm39)	missense	probably benign	0.00
R7083:Greb1	UTSW	12	16,773,315 (GRCm39)	missense	probably benign
R7147:Greb1	UTSW	12	16,783,428 (GRCm39)	missense	probably damaging	1.00
R7238:Greb1	UTSW	12	16,724,673 (GRCm39)	missense	probably damaging	0.99
R7290:Greb1	UTSW	12	16,761,739 (GRCm39)	missense	probably damaging	1.00
R7358:Greb1	UTSW	12	16,774,882 (GRCm39)	missense	probably damaging	1.00
R7395:Greb1	UTSW	12	16,759,431 (GRCm39)	critical splice donor site	probably null
R7526:Greb1	UTSW	12	16,766,766 (GRCm39)	missense	probably benign	0.00
R7530:Greb1	UTSW	12	16,767,207 (GRCm39)	missense	probably benign	0.02
R7536:Greb1	UTSW	12	16,732,186 (GRCm39)	missense	probably damaging	1.00
R7643:Greb1	UTSW	12	16,761,997 (GRCm39)	missense	probably damaging	0.99
R7732:Greb1	UTSW	12	16,723,864 (GRCm39)	missense	probably damaging	1.00
R7740:Greb1	UTSW	12	16,790,122 (GRCm39)	start gained	probably benign
R7747:Greb1	UTSW	12	16,724,796 (GRCm39)	missense	probably benign	0.01
R7760:Greb1	UTSW	12	16,773,417 (GRCm39)	missense	probably benign
R7937:Greb1	UTSW	12	16,766,670 (GRCm39)	missense	probably damaging	0.99
R8043:Greb1	UTSW	12	16,761,790 (GRCm39)	missense	probably damaging	1.00
R8259:Greb1	UTSW	12	16,774,925 (GRCm39)	nonsense	probably null
R8553:Greb1	UTSW	12	16,773,328 (GRCm39)	missense	probably benign	0.00
R8559:Greb1	UTSW	12	16,746,436 (GRCm39)	missense	probably damaging	1.00
R8690:Greb1	UTSW	12	16,746,548 (GRCm39)	missense	probably benign	0.03
R8830:Greb1	UTSW	12	16,738,520 (GRCm39)	missense	probably benign	0.35
R8911:Greb1	UTSW	12	16,740,903 (GRCm39)	missense	possibly damaging	0.84
R8963:Greb1	UTSW	12	16,774,885 (GRCm39)	missense	probably damaging	1.00
R8986:Greb1	UTSW	12	16,734,457 (GRCm39)	missense	probably damaging	0.99
R9013:Greb1	UTSW	12	16,789,970 (GRCm39)	missense	probably damaging	1.00
R9279:Greb1	UTSW	12	16,732,153 (GRCm39)	missense	probably damaging	0.99
R9360:Greb1	UTSW	12	16,790,037 (GRCm39)	missense	probably damaging	1.00
R9563:Greb1	UTSW	12	16,774,824 (GRCm39)	missense	probably benign	0.06
R9616:Greb1	UTSW	12	16,790,038 (GRCm39)	missense	probably damaging	1.00
R9627:Greb1	UTSW	12	16,756,167 (GRCm39)	missense	probably damaging	1.00
R9731:Greb1	UTSW	12	16,738,598 (GRCm39)	missense	probably damaging	1.00
R9761:Greb1	UTSW	12	16,751,275 (GRCm39)	missense	probably benign	0.05
Z1176:Greb1	UTSW	12	16,746,757 (GRCm39)	missense	probably benign	0.00
Z1177:Greb1	UTSW	12	16,752,492 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGTTCCTCCAGAGCCAAG -3'
(R):5'- TGGTTCCTAAAGTCCCCAGC -3'

Sequencing Primer
(F):5'- AGTCGCTCATAGGCCACG -3'
(R):5'- CCGCTACAGTAGTGATTATCAGTCTG -3'

Posted On

2014-08-25