Mutagenetix > Incidental Mutation

Incidental Mutation 'R2178:Greb1'

237014

Institutional Source

Beutler Lab

Gene Symbol

Greb1

Ensembl Gene

ENSMUSG00000036523

Gene Name

gene regulated by estrogen in breast cancer protein

Synonyms

5730583K22Rik

MMRRC Submission

040180-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2178 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16720616-16850887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16746388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1294 (V1294A)

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: V1294A

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

SMART Domains

Protein: ENSMUSP00000044454
Gene: ENSMUSG00000036523
AA Change: V1294A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000159120
AA Change: V1266A

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

SMART Domains

Protein: ENSMUSP00000125339
Gene: ENSMUSG00000036523
AA Change: V1266A

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: ENSMUST00000161036

Predicted Effect

probably damaging
Transcript: ENSMUST00000162112
AA Change: V1294A

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

SMART Domains

Protein: ENSMUSP00000124348
Gene: ENSMUSG00000036523
AA Change: V1294A

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: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	A	T	15: 98,492,236 (GRCm39)	N1007K	probably damaging	Het
Apon	C	A	10: 128,090,634 (GRCm39)	A104E	probably benign	Het
Cdh15	T	A	8: 123,591,715 (GRCm39)		probably null	Het
Cep135	T	C	5: 76,779,297 (GRCm39)	V769A	probably benign	Het
Cep152	A	T	2: 125,421,954 (GRCm39)		probably null	Het
Clca3a1	T	C	3: 144,711,863 (GRCm39)	N711D	probably damaging	Het
Col1a2	T	C	6: 4,531,143 (GRCm39)	F731L	unknown	Het
Cpt1b	T	C	15: 89,303,246 (GRCm39)	E603G	probably damaging	Het
Cspp1	T	G	1: 10,174,471 (GRCm39)	D641E	possibly damaging	Het
Ddr2	C	T	1: 169,822,251 (GRCm39)	R399Q	probably benign	Het
Dzip1	T	C	14: 119,126,816 (GRCm39)		probably null	Het
Hmgb4	A	G	4: 128,154,275 (GRCm39)	S98P	probably damaging	Het
Kif12	G	A	4: 63,085,196 (GRCm39)	P515L	probably benign	Het
Kmt5b	A	C	19: 3,865,372 (GRCm39)	E789A	possibly damaging	Het
Lama1	G	T	17: 68,076,510 (GRCm39)	V1095F	probably benign	Het
Leprot	T	C	4: 101,513,308 (GRCm39)	V32A	probably benign	Het
Mcoln1	A	G	8: 3,558,766 (GRCm39)	T255A	probably damaging	Het
Mertk	G	A	2: 128,634,984 (GRCm39)	E765K	probably damaging	Het
Muc5b	A	G	7: 141,417,853 (GRCm39)	T3600A	possibly damaging	Het
Ncapd3	A	T	9: 26,999,845 (GRCm39)	E1395V	probably benign	Het
Ntrk2	T	C	13: 58,956,616 (GRCm39)	F25S	probably benign	Het
Or2a5	A	G	6: 42,873,732 (GRCm39)	M116V	probably benign	Het
Or6z1	G	T	7: 6,504,487 (GRCm39)	A246D	probably damaging	Het
Or7c70	T	A	10: 78,683,612 (GRCm39)	I46F	probably damaging	Het
Pappa	C	A	4: 65,269,924 (GRCm39)	H1613N	probably benign	Het
Polq	T	C	16: 36,883,191 (GRCm39)	V1785A	probably damaging	Het
Pramel23	A	T	4: 143,424,612 (GRCm39)	I277K	possibly damaging	Het
Prkar2a	T	C	9: 108,617,737 (GRCm39)		probably null	Het
Qrich2	T	C	11: 116,334,603 (GRCm39)	D2194G	probably damaging	Het
Rnf183	T	C	4: 62,346,333 (GRCm39)	N155S	probably benign	Het
S1pr5	T	C	9: 21,155,760 (GRCm39)	N222S	probably benign	Het
Scnn1a	C	T	6: 125,307,965 (GRCm39)	R170C	probably damaging	Het
Slc25a2	T	C	18: 37,771,311 (GRCm39)	T73A	probably benign	Het
Tgfb1	A	G	7: 25,404,234 (GRCm39)	N347S	probably damaging	Het
Ticrr	T	C	7: 79,315,433 (GRCm39)	V229A	probably benign	Het
Tjp3	T	C	10: 81,115,941 (GRCm39)	E313G	probably benign	Het
Tnfsf11	A	G	14: 78,521,682 (GRCm39)	S176P	probably benign	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Vps39	C	A	2: 120,154,160 (GRCm39)	E612*	probably null	Het
Vwf	T	A	6: 125,619,095 (GRCm39)	Y1258N	possibly damaging	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
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'- AAAACTGAAGACGACCCTGG -3'
(R):5'- TCATCATCCACATGTGCGGTG -3'

Sequencing Primer
(F):5'- AGGCATGATACCCACCTGAGG -3'
(R):5'- TGCCCACTGCCAATGTG -3'

Posted On

2014-10-02