Mutagenetix > Incidental Mutation

Incidental Mutation 'R7760:Greb1'

597811

Institutional Source

Beutler Lab

Gene Symbol

Greb1

Ensembl Gene

ENSMUSG00000036523

Gene Name

gene regulated by estrogen in breast cancer protein

Synonyms

5730583K22Rik

MMRRC Submission

045816-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7760 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16670615-16800886 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16723416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 219 (N219S)

Ref Sequence

ENSEMBL: ENSMUSP00000044454 (fasta)

Gene Model

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

AlphaFold

Q3UHK3

Predicted Effect

probably benign
Transcript: ENSMUST00000048064
AA Change: N219S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044454
Gene: ENSMUSG00000036523
AA Change: N219S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159120
AA Change: N219S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125339
Gene: ENSMUSG00000036523
AA Change: N219S

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: ENSMUST00000162112
AA Change: N219S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124348
Gene: ENSMUSG00000036523
AA Change: N219S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	C	T	14: 25,872,827 (GRCm38)	Q162*	probably null	Het
Arg1	T	G	10: 24,927,463 (GRCm38)		probably benign	Het
Arl6	T	C	16: 59,618,806 (GRCm38)	D175G	probably damaging	Het
Capg	A	G	6: 72,557,786 (GRCm38)	R199G	probably damaging	Het
Ceacam1	T	A	7: 25,472,025 (GRCm38)	E338V	probably damaging	Het
Clec4d	A	G	6: 123,270,341 (GRCm38)	N148D	probably benign	Het
Ctr9	T	G	7: 111,046,601 (GRCm38)	I653R	probably damaging	Het
Dmwd	C	T	7: 19,080,735 (GRCm38)	L437F	probably damaging	Het
Dnah7b	T	A	1: 46,201,253 (GRCm38)	L1510Q	probably damaging	Het
Efcab5	T	A	11: 77,151,926 (GRCm38)	E136D	probably benign	Het
Elfn2	C	T	15: 78,673,841 (GRCm38)	A169T	probably benign	Het
Esrp2	T	A	8: 106,133,470 (GRCm38)	E326D	probably benign	Het
Fbrs	T	C	7: 127,489,400 (GRCm38)	V718A	probably damaging	Het
Fbxl21	C	T	13: 56,537,003 (GRCm38)	R307C	probably benign	Het
Fbxl21	T	C	13: 56,526,934 (GRCm38)	S33P	probably benign	Het
Gatad2b	C	T	3: 90,354,469 (GRCm38)	R461W	probably damaging	Het
Gm19410	T	A	8: 35,802,337 (GRCm38)	C1109S	probably damaging	Het
Gm6882	T	A	7: 21,427,484 (GRCm38)	D153V	probably damaging	Het
Gm7075	T	C	10: 63,421,537 (GRCm38)	K68R	probably damaging	Het
Golga3	A	G	5: 110,205,850 (GRCm38)	E918G	probably benign	Het
Grpel1	G	T	5: 36,470,642 (GRCm38)	R89L	probably damaging	Het
Ighv5-12	T	A	12: 113,702,175 (GRCm38)	Q101L	probably benign	Het
Ikbkap	A	G	4: 56,790,892 (GRCm38)	V287A	probably benign	Het
Ldb3	T	A	14: 34,542,503 (GRCm38)	N590I	probably damaging	Het
Man2c1	T	C	9: 57,139,363 (GRCm38)	V636A	probably benign	Het
Mblac2	G	T	13: 81,711,877 (GRCm38)	V117L	probably benign	Het
Muc6	T	A	7: 141,651,057 (GRCm38)		probably null	Het
Nfatc3	A	G	8: 106,108,341 (GRCm38)	E773G	possibly damaging	Het
Ngef	T	C	1: 87,540,773 (GRCm38)	D88G	probably benign	Het
Nipbl	T	C	15: 8,358,702 (GRCm38)	E478G	probably damaging	Het
Olfr720	T	C	14: 14,175,905 (GRCm38)	Y59C	probably damaging	Het
Pbx4	C	A	8: 69,832,795 (GRCm38)	D29E	probably benign	Het
Pcdhgb5	A	G	18: 37,731,637 (GRCm38)	I162V	not run	Het
Pdcd11	G	A	19: 47,113,198 (GRCm38)	V941M	possibly damaging	Het
Pigr	A	T	1: 130,846,631 (GRCm38)	R449S	possibly damaging	Het
Plcb2	T	C	2: 118,711,388 (GRCm38)	T914A	probably benign	Het
Ppp5c	A	G	7: 17,006,349 (GRCm38)	S387P	probably damaging	Het
Rtkn2	T	G	10: 68,005,609 (GRCm38)	S196A	probably damaging	Het
Sec31a	A	G	5: 100,392,628 (GRCm38)	F400L	probably damaging	Het
Senp7	A	T	16: 56,139,079 (GRCm38)	M251L	probably benign	Het
Slc6a5	T	C	7: 49,946,617 (GRCm38)	F612L	probably benign	Het
Slc7a9	T	C	7: 35,457,075 (GRCm38)	I314T	possibly damaging	Het
Smc5	A	C	19: 23,235,890 (GRCm38)	S553A	probably benign	Het
Spaca3	T	A	11: 80,864,563 (GRCm38)	V133D	probably damaging	Het
Taco1	T	A	11: 106,073,112 (GRCm38)	D232E	possibly damaging	Het
Tarbp1	C	T	8: 126,452,807 (GRCm38)	R664H	not run	Het
Tlk2	T	C	11: 105,279,167 (GRCm38)	I674T	probably damaging	Het
Tnxb	A	T	17: 34,712,937 (GRCm38)	E2148V	probably damaging	Het
Tom1l2	T	C	11: 60,274,965 (GRCm38)	S59G	probably benign	Het
Traj46	T	G	14: 54,172,357 (GRCm38)	H7Q		Het
Traj46	A	T	14: 54,172,356 (GRCm38)	H7L		Het
Trav6-4	T	A	14: 53,454,646 (GRCm38)	L70Q	possibly damaging	Het
Trmt1l	C	T	1: 151,442,674 (GRCm38)	T245I	possibly damaging	Het
Wac	T	A	18: 7,921,913 (GRCm38)	C601S	probably benign	Het
Wnt3	T	A	11: 103,811,440 (GRCm38)	H145Q	probably benign	Het
Zfp948	T	C	17: 21,588,366 (GRCm38)	C607R	probably damaging	Het

Other mutations in Greb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Greb1	APN	12	16,711,961 (GRCm38)	missense	probably damaging	1.00
IGL01316:Greb1	APN	12	16,698,586 (GRCm38)	missense	probably benign	0.04
IGL01464:Greb1	APN	12	16,714,826 (GRCm38)	missense	probably damaging	0.99
IGL01474:Greb1	APN	12	16,684,501 (GRCm38)	missense	probably benign
IGL01522:Greb1	APN	12	16,701,201 (GRCm38)	missense	probably damaging	1.00
IGL01824:Greb1	APN	12	16,711,716 (GRCm38)	nonsense	probably null
IGL01837:Greb1	APN	12	16,684,451 (GRCm38)	missense	probably benign	0.19
IGL01991:Greb1	APN	12	16,699,681 (GRCm38)	missense	probably damaging	1.00
IGL01996:Greb1	APN	12	16,690,845 (GRCm38)	missense	possibly damaging	0.70
IGL02213:Greb1	APN	12	16,706,232 (GRCm38)	missense	probably damaging	1.00
IGL02267:Greb1	APN	12	16,717,208 (GRCm38)	missense	probably benign	0.00
IGL02512:Greb1	APN	12	16,692,712 (GRCm38)	missense	possibly damaging	0.79
IGL02583:Greb1	APN	12	16,706,295 (GRCm38)	splice site	probably benign
IGL02613:Greb1	APN	12	16,739,888 (GRCm38)	critical splice donor site	probably null
IGL02648:Greb1	APN	12	16,708,682 (GRCm38)	missense	probably damaging	1.00
IGL02679:Greb1	APN	12	16,708,723 (GRCm38)	missense	probably damaging	1.00
begraben	UTSW	12	16,684,373 (GRCm38)	missense	possibly damaging	0.51
Eared	UTSW	12	16,673,863 (GRCm38)	missense	probably damaging	1.00
Humpback	UTSW	12	16,701,171 (GRCm38)	missense	probably damaging	1.00
pied_billed	UTSW	12	16,724,857 (GRCm38)	missense	possibly damaging	0.79
rednecked	UTSW	12	16,682,152 (GRCm38)	missense	probably damaging	0.99
G1patch:Greb1	UTSW	12	16,688,567 (GRCm38)	missense	probably damaging	1.00
IGL03048:Greb1	UTSW	12	16,733,331 (GRCm38)	missense	probably damaging	1.00
R0083:Greb1	UTSW	12	16,696,451 (GRCm38)	missense	probably benign
R0100:Greb1	UTSW	12	16,680,224 (GRCm38)	missense	probably benign	0.41
R0100:Greb1	UTSW	12	16,680,224 (GRCm38)	missense	probably benign	0.41
R0220:Greb1	UTSW	12	16,682,286 (GRCm38)	missense	probably damaging	1.00
R0245:Greb1	UTSW	12	16,696,456 (GRCm38)	missense	probably damaging	1.00
R0540:Greb1	UTSW	12	16,682,193 (GRCm38)	missense	probably damaging	1.00
R0547:Greb1	UTSW	12	16,723,411 (GRCm38)	missense	probably benign
R0563:Greb1	UTSW	12	16,680,267 (GRCm38)	missense	probably benign	0.23
R0607:Greb1	UTSW	12	16,682,193 (GRCm38)	missense	probably damaging	1.00
R0610:Greb1	UTSW	12	16,696,442 (GRCm38)	missense	probably benign
R0652:Greb1	UTSW	12	16,696,456 (GRCm38)	missense	probably damaging	1.00
R0659:Greb1	UTSW	12	16,680,212 (GRCm38)	missense	probably damaging	0.99
R0945:Greb1	UTSW	12	16,673,802 (GRCm38)	missense	probably benign	0.31
R1055:Greb1	UTSW	12	16,682,251 (GRCm38)	missense	probably damaging	0.98
R1445:Greb1	UTSW	12	16,707,851 (GRCm38)	missense	probably damaging	1.00
R1471:Greb1	UTSW	12	16,711,774 (GRCm38)	missense	probably damaging	0.97
R1503:Greb1	UTSW	12	16,724,819 (GRCm38)	nonsense	probably null
R1566:Greb1	UTSW	12	16,711,828 (GRCm38)	missense	possibly damaging	0.94
R1614:Greb1	UTSW	12	16,701,171 (GRCm38)	missense	probably damaging	1.00
R1623:Greb1	UTSW	12	16,674,770 (GRCm38)	missense	probably damaging	1.00
R1751:Greb1	UTSW	12	16,723,438 (GRCm38)	splice site	probably benign
R1778:Greb1	UTSW	12	16,690,894 (GRCm38)	missense	probably benign
R1842:Greb1	UTSW	12	16,696,243 (GRCm38)	missense	probably damaging	1.00
R2040:Greb1	UTSW	12	16,702,650 (GRCm38)	missense	probably damaging	1.00
R2153:Greb1	UTSW	12	16,699,532 (GRCm38)	missense	probably damaging	1.00
R2178:Greb1	UTSW	12	16,696,387 (GRCm38)	missense	probably damaging	1.00
R2194:Greb1	UTSW	12	16,690,908 (GRCm38)	missense	probably benign	0.08
R2248:Greb1	UTSW	12	16,680,378 (GRCm38)	missense	possibly damaging	0.90
R2474:Greb1	UTSW	12	16,714,953 (GRCm38)	missense	possibly damaging	0.93
R2509:Greb1	UTSW	12	16,724,922 (GRCm38)	missense	probably damaging	1.00
R2860:Greb1	UTSW	12	16,711,745 (GRCm38)	missense	probably benign	0.28
R2861:Greb1	UTSW	12	16,711,745 (GRCm38)	missense	probably benign	0.28
R2862:Greb1	UTSW	12	16,711,745 (GRCm38)	missense	probably benign	0.28
R2866:Greb1	UTSW	12	16,699,550 (GRCm38)	missense	probably damaging	1.00
R2890:Greb1	UTSW	12	16,704,478 (GRCm38)	missense	probably damaging	1.00
R3056:Greb1	UTSW	12	16,688,591 (GRCm38)	missense	probably damaging	0.96
R3863:Greb1	UTSW	12	16,702,420 (GRCm38)	missense	probably damaging	1.00
R3864:Greb1	UTSW	12	16,702,420 (GRCm38)	missense	probably damaging	1.00
R3956:Greb1	UTSW	12	16,682,299 (GRCm38)	missense	probably damaging	1.00
R4493:Greb1	UTSW	12	16,698,610 (GRCm38)	missense	probably benign	0.14
R4548:Greb1	UTSW	12	16,699,675 (GRCm38)	missense	probably damaging	1.00
R4683:Greb1	UTSW	12	16,711,773 (GRCm38)	missense	possibly damaging	0.75
R4739:Greb1	UTSW	12	16,696,328 (GRCm38)	missense	probably damaging	1.00
R4770:Greb1	UTSW	12	16,681,356 (GRCm38)	missense	probably benign	0.03
R4838:Greb1	UTSW	12	16,684,360 (GRCm38)	critical splice donor site	probably null
R4925:Greb1	UTSW	12	16,681,471 (GRCm38)	missense	probably damaging	1.00
R4982:Greb1	UTSW	12	16,724,761 (GRCm38)	missense	probably damaging	0.98
R5009:Greb1	UTSW	12	16,724,857 (GRCm38)	missense	possibly damaging	0.79
R5086:Greb1	UTSW	12	16,708,022 (GRCm38)	intron	probably benign
R5213:Greb1	UTSW	12	16,714,790 (GRCm38)	nonsense	probably null
R5310:Greb1	UTSW	12	16,716,759 (GRCm38)	missense	probably benign	0.09
R5353:Greb1	UTSW	12	16,688,566 (GRCm38)	nonsense	probably null
R5544:Greb1	UTSW	12	16,673,796 (GRCm38)	missense	probably damaging	1.00
R5605:Greb1	UTSW	12	16,708,726 (GRCm38)	missense	probably damaging	0.96
R5708:Greb1	UTSW	12	16,673,842 (GRCm38)	missense	probably benign	0.11
R5837:Greb1	UTSW	12	16,688,585 (GRCm38)	missense	probably damaging	1.00
R5890:Greb1	UTSW	12	16,733,421 (GRCm38)	missense	possibly damaging	0.90
R5938:Greb1	UTSW	12	16,717,258 (GRCm38)	missense	probably damaging	1.00
R6049:Greb1	UTSW	12	16,681,394 (GRCm38)	missense	probably damaging	0.99
R6093:Greb1	UTSW	12	16,684,486 (GRCm38)	missense	probably benign
R6120:Greb1	UTSW	12	16,708,621 (GRCm38)	missense	probably damaging	0.99
R6175:Greb1	UTSW	12	16,674,770 (GRCm38)	missense	probably damaging	1.00
R6247:Greb1	UTSW	12	16,716,675 (GRCm38)	missense	probably damaging	1.00
R6274:Greb1	UTSW	12	16,735,151 (GRCm38)	missense	probably damaging	0.97
R6376:Greb1	UTSW	12	16,699,579 (GRCm38)	missense	probably damaging	0.97
R6523:Greb1	UTSW	12	16,684,373 (GRCm38)	missense	possibly damaging	0.51
R6557:Greb1	UTSW	12	16,710,383 (GRCm38)	missense	probably benign	0.00
R6602:Greb1	UTSW	12	16,709,440 (GRCm38)	missense	probably benign	0.44
R6621:Greb1	UTSW	12	16,692,717 (GRCm38)	missense	probably damaging	1.00
R6645:Greb1	UTSW	12	16,698,579 (GRCm38)	missense	probably benign	0.07
R6725:Greb1	UTSW	12	16,688,567 (GRCm38)	missense	probably damaging	1.00
R6750:Greb1	UTSW	12	16,688,583 (GRCm38)	missense	probably benign	0.05
R6863:Greb1	UTSW	12	16,684,420 (GRCm38)	missense	probably damaging	1.00
R6914:Greb1	UTSW	12	16,707,902 (GRCm38)	missense	probably damaging	0.97
R6996:Greb1	UTSW	12	16,723,354 (GRCm38)	missense	probably benign	0.00
R7083:Greb1	UTSW	12	16,723,314 (GRCm38)	missense	probably benign
R7147:Greb1	UTSW	12	16,733,427 (GRCm38)	missense	probably damaging	1.00
R7238:Greb1	UTSW	12	16,674,672 (GRCm38)	missense	probably damaging	0.99
R7290:Greb1	UTSW	12	16,711,738 (GRCm38)	missense	probably damaging	1.00
R7358:Greb1	UTSW	12	16,724,881 (GRCm38)	missense	probably damaging	1.00
R7395:Greb1	UTSW	12	16,709,430 (GRCm38)	critical splice donor site	probably null
R7526:Greb1	UTSW	12	16,716,765 (GRCm38)	missense	probably benign	0.00
R7530:Greb1	UTSW	12	16,717,206 (GRCm38)	missense	probably benign	0.02
R7536:Greb1	UTSW	12	16,682,185 (GRCm38)	missense	probably damaging	1.00
R7643:Greb1	UTSW	12	16,711,996 (GRCm38)	missense	probably damaging	0.99
R7732:Greb1	UTSW	12	16,673,863 (GRCm38)	missense	probably damaging	1.00
R7740:Greb1	UTSW	12	16,740,121 (GRCm38)	start gained	probably benign
R7747:Greb1	UTSW	12	16,674,795 (GRCm38)	missense	probably benign	0.01
R7937:Greb1	UTSW	12	16,716,669 (GRCm38)	missense	probably damaging	0.99
R8043:Greb1	UTSW	12	16,711,789 (GRCm38)	missense	probably damaging	1.00
R8259:Greb1	UTSW	12	16,724,924 (GRCm38)	nonsense	probably null
R8553:Greb1	UTSW	12	16,723,327 (GRCm38)	missense	probably benign	0.00
R8559:Greb1	UTSW	12	16,696,435 (GRCm38)	missense	probably damaging	1.00
R8690:Greb1	UTSW	12	16,696,547 (GRCm38)	missense	probably benign	0.03
R8830:Greb1	UTSW	12	16,688,519 (GRCm38)	missense	probably benign	0.35
R8911:Greb1	UTSW	12	16,690,902 (GRCm38)	missense	possibly damaging	0.84
R8963:Greb1	UTSW	12	16,724,884 (GRCm38)	missense	probably damaging	1.00
R8986:Greb1	UTSW	12	16,684,456 (GRCm38)	missense	probably damaging	0.99
R9013:Greb1	UTSW	12	16,739,969 (GRCm38)	missense	probably damaging	1.00
R9279:Greb1	UTSW	12	16,682,152 (GRCm38)	missense	probably damaging	0.99
R9360:Greb1	UTSW	12	16,740,036 (GRCm38)	missense	probably damaging	1.00
R9563:Greb1	UTSW	12	16,724,823 (GRCm38)	missense	probably benign	0.06
R9616:Greb1	UTSW	12	16,740,037 (GRCm38)	missense	probably damaging	1.00
R9627:Greb1	UTSW	12	16,706,166 (GRCm38)	missense	probably damaging	1.00
R9731:Greb1	UTSW	12	16,688,597 (GRCm38)	missense	probably damaging	1.00
R9761:Greb1	UTSW	12	16,701,274 (GRCm38)	missense	probably benign	0.05
Z1176:Greb1	UTSW	12	16,696,756 (GRCm38)	missense	probably benign	0.00
Z1177:Greb1	UTSW	12	16,702,491 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAAGAATGCCGACGCCAG -3'
(R):5'- GGTTAGAGTCTTGGCCATCAGG -3'

Sequencing Primer
(F):5'- CAGGTGTGTGGCTTTAGCACC -3'
(R):5'- TGGAACATGGCACCTCTGC -3'

Posted On

2019-11-26