Incidental Mutation 'IGL01824:Greb1'
ID |
154629 |
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 |
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01824
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
16670615-16800886 bp(-) (GRCm38) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 16711716 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 554
(C554*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124348
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048064]
[ENSMUST00000159120]
[ENSMUST00000162112]
|
AlphaFold |
Q3UHK3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000048064
AA Change: C554*
|
SMART Domains |
Protein: ENSMUSP00000044454 Gene: ENSMUSG00000036523 AA Change: C554*
Domain | Start | End | E-Value | Type |
Pfam:GREB1
|
1 |
1954 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159044
|
Predicted Effect |
probably null
Transcript: ENSMUST00000159120
AA Change: C554*
|
SMART Domains |
Protein: ENSMUSP00000125339 Gene: ENSMUSG00000036523 AA Change: C554*
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: ENSMUST00000160347
|
SMART Domains |
Protein: ENSMUSP00000124897 Gene: ENSMUSG00000036523
Domain | Start | End | E-Value | Type |
Pfam:GREB1
|
1 |
121 |
4.5e-61 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160575
|
Predicted Effect |
probably null
Transcript: ENSMUST00000160627
AA Change: C19*
|
SMART Domains |
Protein: ENSMUSP00000124922 Gene: ENSMUSG00000036523 AA Change: C19*
Domain | Start | End | E-Value | Type |
Pfam:GREB1
|
1 |
122 |
1.8e-41 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161036
|
Predicted Effect |
probably null
Transcript: ENSMUST00000162112
AA Change: C554*
|
SMART Domains |
Protein: ENSMUSP00000124348 Gene: ENSMUSG00000036523 AA Change: C554*
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17c |
G |
A |
7: 84,151,289 |
R186C |
probably benign |
Het |
Ankar |
A |
G |
1: 72,651,727 |
V1196A |
probably benign |
Het |
Asah1 |
A |
T |
8: 41,349,543 |
|
probably benign |
Het |
Chrm1 |
T |
C |
19: 8,679,130 |
W400R |
probably damaging |
Het |
Cyp27a1 |
G |
T |
1: 74,735,881 |
E290* |
probably null |
Het |
Dnah7a |
T |
C |
1: 53,504,270 |
D2247G |
probably benign |
Het |
Gins4 |
G |
A |
8: 23,234,768 |
Q57* |
probably null |
Het |
Gli1 |
T |
C |
10: 127,336,527 |
D219G |
probably benign |
Het |
Gtf2ird2 |
T |
C |
5: 134,197,282 |
|
probably benign |
Het |
Ifna15 |
T |
C |
4: 88,557,783 |
R155G |
probably benign |
Het |
Lck |
T |
A |
4: 129,558,146 |
M14L |
probably benign |
Het |
Megf6 |
A |
G |
4: 154,252,234 |
D322G |
probably damaging |
Het |
Olfr1272 |
T |
A |
2: 90,281,919 |
I219F |
probably damaging |
Het |
Pcdh18 |
A |
T |
3: 49,754,774 |
D697E |
probably damaging |
Het |
Pnp |
C |
T |
14: 50,951,413 |
T221I |
probably damaging |
Het |
Ppl |
A |
G |
16: 5,087,889 |
I1514T |
probably damaging |
Het |
Scnn1g |
A |
G |
7: 121,766,293 |
M523V |
probably benign |
Het |
Sema4c |
A |
G |
1: 36,553,029 |
Y246H |
possibly damaging |
Het |
Slco1a5 |
T |
A |
6: 142,253,037 |
I301F |
probably benign |
Het |
Srebf1 |
A |
G |
11: 60,204,131 |
S446P |
probably benign |
Het |
Sys1 |
T |
G |
2: 164,463,305 |
L56R |
probably damaging |
Het |
Trpc7 |
G |
T |
13: 56,789,722 |
Y585* |
probably null |
Het |
Vmn2r110 |
T |
A |
17: 20,574,667 |
Y580F |
probably benign |
Het |
Zmym6 |
G |
T |
4: 127,108,706 |
V485F |
probably damaging |
Het |
|
Other mutations in Greb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00155:Greb1
|
APN |
12 |
16711961 |
missense |
probably damaging |
1.00 |
IGL01316:Greb1
|
APN |
12 |
16698586 |
missense |
probably benign |
0.04 |
IGL01464:Greb1
|
APN |
12 |
16714826 |
missense |
probably damaging |
0.99 |
IGL01474:Greb1
|
APN |
12 |
16684501 |
missense |
probably benign |
|
IGL01522:Greb1
|
APN |
12 |
16701201 |
missense |
probably damaging |
1.00 |
IGL01837:Greb1
|
APN |
12 |
16684451 |
missense |
probably benign |
0.19 |
IGL01991:Greb1
|
APN |
12 |
16699681 |
missense |
probably damaging |
1.00 |
IGL01996:Greb1
|
APN |
12 |
16690845 |
missense |
possibly damaging |
0.70 |
IGL02213:Greb1
|
APN |
12 |
16706232 |
missense |
probably damaging |
1.00 |
IGL02267:Greb1
|
APN |
12 |
16717208 |
missense |
probably benign |
0.00 |
IGL02512:Greb1
|
APN |
12 |
16692712 |
missense |
possibly damaging |
0.79 |
IGL02583:Greb1
|
APN |
12 |
16706295 |
splice site |
probably benign |
|
IGL02613:Greb1
|
APN |
12 |
16739888 |
critical splice donor site |
probably null |
|
IGL02648:Greb1
|
APN |
12 |
16708682 |
missense |
probably damaging |
1.00 |
IGL02679:Greb1
|
APN |
12 |
16708723 |
missense |
probably damaging |
1.00 |
begraben
|
UTSW |
12 |
16684373 |
missense |
possibly damaging |
0.51 |
Eared
|
UTSW |
12 |
16673863 |
missense |
probably damaging |
1.00 |
Humpback
|
UTSW |
12 |
16701171 |
missense |
probably damaging |
1.00 |
pied_billed
|
UTSW |
12 |
16724857 |
missense |
possibly damaging |
0.79 |
rednecked
|
UTSW |
12 |
16682152 |
missense |
probably damaging |
0.99 |
G1patch:Greb1
|
UTSW |
12 |
16688567 |
missense |
probably damaging |
1.00 |
IGL03048:Greb1
|
UTSW |
12 |
16733331 |
missense |
probably damaging |
1.00 |
R0083:Greb1
|
UTSW |
12 |
16696451 |
missense |
probably benign |
|
R0100:Greb1
|
UTSW |
12 |
16680224 |
missense |
probably benign |
0.41 |
R0100:Greb1
|
UTSW |
12 |
16680224 |
missense |
probably benign |
0.41 |
R0220:Greb1
|
UTSW |
12 |
16682286 |
missense |
probably damaging |
1.00 |
R0245:Greb1
|
UTSW |
12 |
16696456 |
missense |
probably damaging |
1.00 |
R0540:Greb1
|
UTSW |
12 |
16682193 |
missense |
probably damaging |
1.00 |
R0547:Greb1
|
UTSW |
12 |
16723411 |
missense |
probably benign |
|
R0563:Greb1
|
UTSW |
12 |
16680267 |
missense |
probably benign |
0.23 |
R0607:Greb1
|
UTSW |
12 |
16682193 |
missense |
probably damaging |
1.00 |
R0610:Greb1
|
UTSW |
12 |
16696442 |
missense |
probably benign |
|
R0652:Greb1
|
UTSW |
12 |
16696456 |
missense |
probably damaging |
1.00 |
R0659:Greb1
|
UTSW |
12 |
16680212 |
missense |
probably damaging |
0.99 |
R0945:Greb1
|
UTSW |
12 |
16673802 |
missense |
probably benign |
0.31 |
R1055:Greb1
|
UTSW |
12 |
16682251 |
missense |
probably damaging |
0.98 |
R1445:Greb1
|
UTSW |
12 |
16707851 |
missense |
probably damaging |
1.00 |
R1471:Greb1
|
UTSW |
12 |
16711774 |
missense |
probably damaging |
0.97 |
R1503:Greb1
|
UTSW |
12 |
16724819 |
nonsense |
probably null |
|
R1566:Greb1
|
UTSW |
12 |
16711828 |
missense |
possibly damaging |
0.94 |
R1614:Greb1
|
UTSW |
12 |
16701171 |
missense |
probably damaging |
1.00 |
R1623:Greb1
|
UTSW |
12 |
16674770 |
missense |
probably damaging |
1.00 |
R1751:Greb1
|
UTSW |
12 |
16723438 |
splice site |
probably benign |
|
R1778:Greb1
|
UTSW |
12 |
16690894 |
missense |
probably benign |
|
R1842:Greb1
|
UTSW |
12 |
16696243 |
missense |
probably damaging |
1.00 |
R2040:Greb1
|
UTSW |
12 |
16702650 |
missense |
probably damaging |
1.00 |
R2153:Greb1
|
UTSW |
12 |
16699532 |
missense |
probably damaging |
1.00 |
R2178:Greb1
|
UTSW |
12 |
16696387 |
missense |
probably damaging |
1.00 |
R2194:Greb1
|
UTSW |
12 |
16690908 |
missense |
probably benign |
0.08 |
R2248:Greb1
|
UTSW |
12 |
16680378 |
missense |
possibly damaging |
0.90 |
R2474:Greb1
|
UTSW |
12 |
16714953 |
missense |
possibly damaging |
0.93 |
R2509:Greb1
|
UTSW |
12 |
16724922 |
missense |
probably damaging |
1.00 |
R2860:Greb1
|
UTSW |
12 |
16711745 |
missense |
probably benign |
0.28 |
R2861:Greb1
|
UTSW |
12 |
16711745 |
missense |
probably benign |
0.28 |
R2862:Greb1
|
UTSW |
12 |
16711745 |
missense |
probably benign |
0.28 |
R2866:Greb1
|
UTSW |
12 |
16699550 |
missense |
probably damaging |
1.00 |
R2890:Greb1
|
UTSW |
12 |
16704478 |
missense |
probably damaging |
1.00 |
R3056:Greb1
|
UTSW |
12 |
16688591 |
missense |
probably damaging |
0.96 |
R3863:Greb1
|
UTSW |
12 |
16702420 |
missense |
probably damaging |
1.00 |
R3864:Greb1
|
UTSW |
12 |
16702420 |
missense |
probably damaging |
1.00 |
R3956:Greb1
|
UTSW |
12 |
16682299 |
missense |
probably damaging |
1.00 |
R4493:Greb1
|
UTSW |
12 |
16698610 |
missense |
probably benign |
0.14 |
R4548:Greb1
|
UTSW |
12 |
16699675 |
missense |
probably damaging |
1.00 |
R4683:Greb1
|
UTSW |
12 |
16711773 |
missense |
possibly damaging |
0.75 |
R4739:Greb1
|
UTSW |
12 |
16696328 |
missense |
probably damaging |
1.00 |
R4770:Greb1
|
UTSW |
12 |
16681356 |
missense |
probably benign |
0.03 |
R4838:Greb1
|
UTSW |
12 |
16684360 |
critical splice donor site |
probably null |
|
R4925:Greb1
|
UTSW |
12 |
16681471 |
missense |
probably damaging |
1.00 |
R4982:Greb1
|
UTSW |
12 |
16724761 |
missense |
probably damaging |
0.98 |
R5009:Greb1
|
UTSW |
12 |
16724857 |
missense |
possibly damaging |
0.79 |
R5086:Greb1
|
UTSW |
12 |
16708022 |
intron |
probably benign |
|
R5213:Greb1
|
UTSW |
12 |
16714790 |
nonsense |
probably null |
|
R5310:Greb1
|
UTSW |
12 |
16716759 |
missense |
probably benign |
0.09 |
R5353:Greb1
|
UTSW |
12 |
16688566 |
nonsense |
probably null |
|
R5544:Greb1
|
UTSW |
12 |
16673796 |
missense |
probably damaging |
1.00 |
R5605:Greb1
|
UTSW |
12 |
16708726 |
missense |
probably damaging |
0.96 |
R5708:Greb1
|
UTSW |
12 |
16673842 |
missense |
probably benign |
0.11 |
R5837:Greb1
|
UTSW |
12 |
16688585 |
missense |
probably damaging |
1.00 |
R5890:Greb1
|
UTSW |
12 |
16733421 |
missense |
possibly damaging |
0.90 |
R5938:Greb1
|
UTSW |
12 |
16717258 |
missense |
probably damaging |
1.00 |
R6049:Greb1
|
UTSW |
12 |
16681394 |
missense |
probably damaging |
0.99 |
R6093:Greb1
|
UTSW |
12 |
16684486 |
missense |
probably benign |
|
R6120:Greb1
|
UTSW |
12 |
16708621 |
missense |
probably damaging |
0.99 |
R6175:Greb1
|
UTSW |
12 |
16674770 |
missense |
probably damaging |
1.00 |
R6247:Greb1
|
UTSW |
12 |
16716675 |
missense |
probably damaging |
1.00 |
R6274:Greb1
|
UTSW |
12 |
16735151 |
missense |
probably damaging |
0.97 |
R6376:Greb1
|
UTSW |
12 |
16699579 |
missense |
probably damaging |
0.97 |
R6523:Greb1
|
UTSW |
12 |
16684373 |
missense |
possibly damaging |
0.51 |
R6557:Greb1
|
UTSW |
12 |
16710383 |
missense |
probably benign |
0.00 |
R6602:Greb1
|
UTSW |
12 |
16709440 |
missense |
probably benign |
0.44 |
R6621:Greb1
|
UTSW |
12 |
16692717 |
missense |
probably damaging |
1.00 |
R6645:Greb1
|
UTSW |
12 |
16698579 |
missense |
probably benign |
0.07 |
R6725:Greb1
|
UTSW |
12 |
16688567 |
missense |
probably damaging |
1.00 |
R6750:Greb1
|
UTSW |
12 |
16688583 |
missense |
probably benign |
0.05 |
R6863:Greb1
|
UTSW |
12 |
16684420 |
missense |
probably damaging |
1.00 |
R6914:Greb1
|
UTSW |
12 |
16707902 |
missense |
probably damaging |
0.97 |
R6996:Greb1
|
UTSW |
12 |
16723354 |
missense |
probably benign |
0.00 |
R7083:Greb1
|
UTSW |
12 |
16723314 |
missense |
probably benign |
|
R7147:Greb1
|
UTSW |
12 |
16733427 |
missense |
probably damaging |
1.00 |
R7238:Greb1
|
UTSW |
12 |
16674672 |
missense |
probably damaging |
0.99 |
R7290:Greb1
|
UTSW |
12 |
16711738 |
missense |
probably damaging |
1.00 |
R7358:Greb1
|
UTSW |
12 |
16724881 |
missense |
probably damaging |
1.00 |
R7395:Greb1
|
UTSW |
12 |
16709430 |
critical splice donor site |
probably null |
|
R7526:Greb1
|
UTSW |
12 |
16716765 |
missense |
probably benign |
0.00 |
R7530:Greb1
|
UTSW |
12 |
16717206 |
missense |
probably benign |
0.02 |
R7536:Greb1
|
UTSW |
12 |
16682185 |
missense |
probably damaging |
1.00 |
R7643:Greb1
|
UTSW |
12 |
16711996 |
missense |
probably damaging |
0.99 |
R7732:Greb1
|
UTSW |
12 |
16673863 |
missense |
probably damaging |
1.00 |
R7740:Greb1
|
UTSW |
12 |
16740121 |
start gained |
probably benign |
|
R7747:Greb1
|
UTSW |
12 |
16674795 |
missense |
probably benign |
0.01 |
R7760:Greb1
|
UTSW |
12 |
16723416 |
missense |
probably benign |
|
R7937:Greb1
|
UTSW |
12 |
16716669 |
missense |
probably damaging |
0.99 |
R8043:Greb1
|
UTSW |
12 |
16711789 |
missense |
probably damaging |
1.00 |
R8259:Greb1
|
UTSW |
12 |
16724924 |
nonsense |
probably null |
|
R8553:Greb1
|
UTSW |
12 |
16723327 |
missense |
probably benign |
0.00 |
R8559:Greb1
|
UTSW |
12 |
16696435 |
missense |
probably damaging |
1.00 |
R8690:Greb1
|
UTSW |
12 |
16696547 |
missense |
probably benign |
0.03 |
R8830:Greb1
|
UTSW |
12 |
16688519 |
missense |
probably benign |
0.35 |
R8911:Greb1
|
UTSW |
12 |
16690902 |
missense |
possibly damaging |
0.84 |
R8963:Greb1
|
UTSW |
12 |
16724884 |
missense |
probably damaging |
1.00 |
R8986:Greb1
|
UTSW |
12 |
16684456 |
missense |
probably damaging |
0.99 |
R9013:Greb1
|
UTSW |
12 |
16739969 |
missense |
probably damaging |
1.00 |
R9279:Greb1
|
UTSW |
12 |
16682152 |
missense |
probably damaging |
0.99 |
R9360:Greb1
|
UTSW |
12 |
16740036 |
missense |
probably damaging |
1.00 |
R9563:Greb1
|
UTSW |
12 |
16724823 |
missense |
probably benign |
0.06 |
R9616:Greb1
|
UTSW |
12 |
16740037 |
missense |
probably damaging |
1.00 |
R9627:Greb1
|
UTSW |
12 |
16706166 |
missense |
probably damaging |
1.00 |
R9731:Greb1
|
UTSW |
12 |
16688597 |
missense |
probably damaging |
1.00 |
R9761:Greb1
|
UTSW |
12 |
16701274 |
missense |
probably benign |
0.05 |
Z1176:Greb1
|
UTSW |
12 |
16696756 |
missense |
probably benign |
0.00 |
Z1177:Greb1
|
UTSW |
12 |
16702491 |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |