Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01316:Greb1'

73848

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Greb1

Ensembl Gene

ENSMUSG00000036523

Gene Name

gene regulated by estrogen in breast cancer protein

Synonyms

5730583K22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01316

Quality Score

Status

Chromosome

Chromosomal Location

16720616-16850887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16748587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1102 (H1102L)

Ref Sequence

ENSEMBL: ENSMUSP00000125339 (fasta)

Gene Model

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

AlphaFold

Q3UHK3

Predicted Effect

probably benign
Transcript: ENSMUST00000048064
AA Change: H1130L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000044454
Gene: ENSMUSG00000036523
AA Change: H1130L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159120
AA Change: H1102L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125339
Gene: ENSMUSG00000036523
AA Change: H1102L

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: ENSMUST00000160575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161036

Predicted Effect

probably benign
Transcript: ENSMUST00000162112
AA Change: H1130L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000124348
Gene: ENSMUSG00000036523
AA Change: H1130L

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,935,404 (GRCm39)	V326A	probably damaging	Het
Aldh1l1	A	G	6: 90,575,362 (GRCm39)	D883G	probably damaging	Het
Ankk1	A	G	9: 49,331,784 (GRCm39)		probably benign	Het
Cacna1s	T	C	1: 136,046,702 (GRCm39)	V1796A	probably benign	Het
Ccdc186	A	C	19: 56,801,845 (GRCm39)	C91G	probably benign	Het
Clec5a	T	C	6: 40,559,196 (GRCm39)	T63A	probably benign	Het
Cyp3a11	T	A	5: 145,791,961 (GRCm39)	K477N	possibly damaging	Het
Dram2	T	A	3: 106,480,296 (GRCm39)	V116E	possibly damaging	Het
Dram2	T	C	3: 106,478,950 (GRCm39)	Y181H	probably benign	Het
Eps15l1	A	T	8: 73,143,258 (GRCm39)	F184L	possibly damaging	Het
Inpp5f	G	A	7: 128,292,430 (GRCm39)		probably benign	Het
Kcng1	T	C	2: 168,110,960 (GRCm39)	N68S	probably damaging	Het
Klhl41	A	G	2: 69,505,068 (GRCm39)	D457G	probably benign	Het
Krt1c	T	C	15: 101,719,646 (GRCm39)	R675G	probably benign	Het
Med13l	T	A	5: 118,900,846 (GRCm39)	V2200D	probably damaging	Het
Mme	T	A	3: 63,247,580 (GRCm39)		probably benign	Het
Nexn	A	T	3: 151,952,870 (GRCm39)	F283L	probably benign	Het
Noxa1	T	C	2: 24,976,023 (GRCm39)	D389G	probably benign	Het
Or2n1c	A	G	17: 38,519,388 (GRCm39)	N84S	probably damaging	Het
Or7g21	A	G	9: 19,032,718 (GRCm39)	I156V	probably benign	Het
Parp1	A	G	1: 180,420,500 (GRCm39)		probably benign	Het
Pirt	T	C	11: 66,816,772 (GRCm39)	S28P	probably damaging	Het
Ros1	A	G	10: 51,963,975 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,758,791 (GRCm39)	T478A	probably benign	Het
Secisbp2	T	C	13: 51,808,552 (GRCm39)	S106P	probably benign	Het
Shroom1	C	T	11: 53,356,385 (GRCm39)	A416V	probably damaging	Het
Ski	C	T	4: 155,306,143 (GRCm39)	A279T	probably damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tab2	A	G	10: 7,800,468 (GRCm39)	V28A	probably damaging	Het
Tmem126a	G	A	7: 90,101,927 (GRCm39)	P91S	probably damaging	Het
Ucma	T	C	2: 4,986,042 (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
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
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

Posted On

2013-10-07