Mutagenetix > Incidental Mutation

Incidental Mutation 'R3956:Greb1'

310716

Institutional Source

Beutler Lab

Gene Symbol

Greb1

Ensembl Gene

ENSMUSG00000036523

Gene Name

gene regulated by estrogen in breast cancer protein

Synonyms

5730583K22Rik

MMRRC Submission

040833-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3956 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

16720616-16850887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 16732300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 1554 (P1554T)

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: P1554T

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

SMART Domains

Protein: ENSMUSP00000044454
Gene: ENSMUSG00000036523
AA Change: P1554T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000159120
AA Change: P1526T

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

SMART Domains

Protein: ENSMUSP00000125339
Gene: ENSMUSG00000036523
AA Change: P1526T

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

noncoding transcript
Transcript: ENSMUST00000160755

Predicted Effect

probably damaging
Transcript: ENSMUST00000162112
AA Change: P1554T

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

SMART Domains

Protein: ENSMUSP00000124348
Gene: ENSMUSG00000036523
AA Change: P1554T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223113

Meta Mutation Damage Score

0.5904

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.5%

Validation Efficiency

100% (56/56)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,100,805 (GRCm39)	K393E	possibly damaging	Het
Aagab	A	G	9: 63,526,442 (GRCm39)	E155G	probably damaging	Het
Abca16	A	G	7: 120,126,975 (GRCm39)	N1221S	probably damaging	Het
Acad11	A	G	9: 103,963,351 (GRCm39)		probably benign	Het
Acsl1	T	A	8: 46,987,495 (GRCm39)	L693Q	probably damaging	Het
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
B3gat1	A	G	9: 26,668,324 (GRCm39)	T305A	possibly damaging	Het
BC051076	A	G	5: 88,112,110 (GRCm39)		noncoding transcript	Het
Ccni	A	G	5: 93,331,263 (GRCm39)	L236S	probably damaging	Het
Ccnq	C	A	11: 78,641,849 (GRCm39)	E214*	probably null	Het
Cdc45	A	G	16: 18,624,180 (GRCm39)	V119A	probably benign	Het
Clspn	ACGGCGGCGGC	A	4: 126,460,230 (GRCm39)		probably null	Het
Creld1	A	G	6: 113,469,190 (GRCm39)	D340G	possibly damaging	Het
Cyrib	T	C	15: 63,813,823 (GRCm39)	Y158C	probably damaging	Het
Dipk1b	C	T	2: 26,525,579 (GRCm39)	P171L	probably benign	Het
Dnah2	T	A	11: 69,374,847 (GRCm39)	I1417L	probably benign	Het
Efhc1	A	C	1: 21,048,890 (GRCm39)	K434N	probably damaging	Het
Evi5l	T	C	8: 4,241,358 (GRCm39)	V297A	possibly damaging	Het
Fkbp8	T	G	8: 70,987,517 (GRCm39)	S376A	probably damaging	Het
Gfod1	A	T	13: 43,354,538 (GRCm39)	C146S	probably damaging	Het
Grip1	A	T	10: 119,765,931 (GRCm39)	I88F	probably damaging	Het
Hbq1a	T	C	11: 32,250,214 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2e	A	G	5: 23,701,023 (GRCm39)	T121A	probably benign	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Mfsd2b	A	T	12: 4,916,848 (GRCm39)	F194Y	probably damaging	Het
Mtmr3	A	T	11: 4,441,138 (GRCm39)	V504E	probably damaging	Het
Neb	C	T	2: 52,091,975 (GRCm39)	V5030M	possibly damaging	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Or5ac17	G	A	16: 59,036,428 (GRCm39)	Q183*	probably null	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Or5al5	C	T	2: 85,961,363 (GRCm39)	V215I	probably benign	Het
Pmfbp1	A	G	8: 110,256,801 (GRCm39)	S502G	probably benign	Het
Prb1c	G	T	6: 132,338,814 (GRCm39)	Q135K	unknown	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Qng1	A	G	13: 58,532,203 (GRCm39)	S118P	probably damaging	Het
Ralgapa2	C	T	2: 146,277,884 (GRCm39)	V426I	probably damaging	Het
Rasgrf2	A	G	13: 92,130,974 (GRCm39)	S696P	probably damaging	Het
Riok3	T	A	18: 12,276,031 (GRCm39)	Y242*	probably null	Het
Robo2	T	G	16: 73,758,755 (GRCm39)	Y672S	probably damaging	Het
Rsbn1	A	G	3: 103,835,991 (GRCm39)	H343R	probably damaging	Het
Sar1a	A	T	10: 61,522,172 (GRCm39)	N88I	possibly damaging	Het
Sgcz	A	G	8: 37,993,346 (GRCm39)		probably benign	Het
Spmip9	A	G	6: 70,890,469 (GRCm39)	Y108H	possibly damaging	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tlcd5	C	A	9: 43,022,808 (GRCm39)	C182F	probably damaging	Het
Tmem131l	C	A	3: 83,817,726 (GRCm39)	C1257F	probably damaging	Het
Top6bl	T	A	19: 4,742,525 (GRCm39)	T214S	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Umodl1	A	G	17: 31,221,837 (GRCm39)	T1280A	probably benign	Het
Xpnpep3	A	G	15: 81,335,230 (GRCm39)		probably benign	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
R2040:Greb1	UTSW	12	16,752,651 (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
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'- GACACCAGCACTGTTAAAGATGC -3'
(R):5'- GAGAAGTCACACTCTGCTGG -3'

Sequencing Primer
(F):5'- CCAGCACTGTTAAAGATGCTTGGG -3'
(R):5'- TGGGACAGAAGAATTTCCCTC -3'

Posted On

2015-04-29