Mutagenetix > Incidental Mutation

Incidental Mutation 'R0563:Greb1'

46024

Institutional Source

Beutler Lab

Gene Symbol

Greb1

Ensembl Gene

ENSMUSG00000036523

Gene Name

gene regulated by estrogen in breast cancer protein

Synonyms

5730583K22Rik

MMRRC Submission

038754-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0563 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16720616-16850887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16730268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1720 (C1720S)

Ref Sequence

ENSEMBL: ENSMUSP00000124348 (fasta)

Gene Model

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

AlphaFold

Q3UHK3

Predicted Effect

probably benign
Transcript: ENSMUST00000048064
AA Change: C1720S

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000044454
Gene: ENSMUSG00000036523
AA Change: C1720S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159120
AA Change: C1692S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125339
Gene: ENSMUSG00000036523
AA Change: C1692S

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 benign
Transcript: ENSMUST00000162112
AA Change: C1720S

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124348
Gene: ENSMUSG00000036523
AA Change: C1720S

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

0.5529

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	G	T	1: 25,586,635 (GRCm39)	P146T	probably damaging	Het
Ambn	A	C	5: 88,611,309 (GRCm39)	N163T	probably benign	Het
Ankrd36	A	T	11: 5,579,322 (GRCm39)	E870D	probably benign	Het
Cdc123	T	C	2: 5,803,212 (GRCm39)	N269S	probably benign	Het
Cdc7	A	T	5: 107,120,776 (GRCm39)		probably benign	Het
Cdh2	A	T	18: 16,762,738 (GRCm39)	V402D	possibly damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Dcdc5	G	A	2: 106,180,035 (GRCm39)		noncoding transcript	Het
Eif4g3	T	C	4: 137,903,151 (GRCm39)		probably benign	Het
Elovl4	C	T	9: 83,667,087 (GRCm39)		probably null	Het
Fhl5	T	G	4: 25,213,610 (GRCm39)	I109L	probably damaging	Het
Gm16181	A	G	17: 35,442,872 (GRCm39)		probably benign	Het
Gna14	A	G	19: 16,585,483 (GRCm39)	Y287C	probably benign	Het
Gypa	T	A	8: 81,236,089 (GRCm39)	S165T	probably benign	Het
Hephl1	T	C	9: 14,993,241 (GRCm39)	D531G	probably damaging	Het
Hsf2bp	A	T	17: 32,226,692 (GRCm39)	L221Q	probably damaging	Het
Itsn1	A	G	16: 91,617,684 (GRCm39)		probably benign	Het
Kif7	T	C	7: 79,352,020 (GRCm39)	E914G	probably benign	Het
Lrp1b	T	C	2: 40,640,926 (GRCm39)	D3506G	probably benign	Het
Lrrc28	T	C	7: 67,195,135 (GRCm39)	N225S	probably damaging	Het
Lysmd4	T	A	7: 66,875,925 (GRCm39)	L196Q	probably benign	Het
Megf8	T	C	7: 25,041,820 (GRCm39)	C1245R	probably damaging	Het
Mgat4f	A	G	1: 134,317,777 (GRCm39)	K183R	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mindy2	T	A	9: 70,538,334 (GRCm39)	I334L	possibly damaging	Het
Mrm1	A	G	11: 84,705,539 (GRCm39)	S287P	probably damaging	Het
Ncor1	A	G	11: 62,234,056 (GRCm39)	I382T	probably damaging	Het
Nectin1	A	G	9: 43,702,342 (GRCm39)	T30A	probably benign	Het
Nelfe	A	G	17: 35,073,215 (GRCm39)	E250G	possibly damaging	Het
Nsd1	C	A	13: 55,394,391 (GRCm39)	T767K	possibly damaging	Het
Or1i2	G	A	10: 78,448,467 (GRCm39)	P3S	probably benign	Het
Or1j18	A	T	2: 36,625,013 (GRCm39)	K227*	probably null	Het
Or4e5	T	A	14: 52,727,714 (GRCm39)	K236*	probably null	Het
Or5b111	A	G	19: 13,291,112 (GRCm39)	I179T	probably benign	Het
Pcnx1	A	G	12: 81,964,718 (GRCm39)	D295G	probably damaging	Het
Pex14	A	G	4: 149,046,003 (GRCm39)	V309A	possibly damaging	Het
Phf14	C	T	6: 11,933,600 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,573,333 (GRCm39)	D399G	possibly damaging	Het
Prim1	A	G	10: 127,862,423 (GRCm39)	D340G	probably damaging	Het
Rb1	A	G	14: 73,454,207 (GRCm39)	F564L	probably damaging	Het
Rcc1l	G	C	5: 134,205,394 (GRCm39)	R54G	probably benign	Het
Rnf151	G	A	17: 24,936,430 (GRCm39)		probably benign	Het
Rnf40	T	C	7: 127,192,048 (GRCm39)	L398P	probably damaging	Het
Robo1	C	T	16: 72,769,174 (GRCm39)	T531I	probably benign	Het
Rps6ka2	A	T	17: 7,521,836 (GRCm39)	I198F	probably damaging	Het
Sgk2	T	C	2: 162,846,164 (GRCm39)	L264P	probably damaging	Het
Slc26a6	T	A	9: 108,734,869 (GRCm39)	I281N	probably damaging	Het
Tnxb	A	T	17: 34,935,921 (GRCm39)	K2657N	probably benign	Het
Tor1aip1	G	A	1: 155,911,554 (GRCm39)	T143M	probably damaging	Het
Tpr	A	G	1: 150,284,609 (GRCm39)	D358G	probably benign	Het
Vstm2b	T	C	7: 40,551,899 (GRCm39)	S76P	probably damaging	Het
Wdr33	A	G	18: 32,019,792 (GRCm39)	K488R	possibly damaging	Het
Ythdc2	T	A	18: 44,997,915 (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
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
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'- AGCACAGTGTTGCAGGTTCAGG -3'
(R):5'- TGCAATTAGGAAGCCATGCCCG -3'

Sequencing Primer
(F):5'- TGCAGGTTCAGGGGAGG -3'
(R):5'- CTTGTCATCCAGGGACGTTG -3'

Posted On

2013-06-11