Incidental Mutation 'R9013:Greb1'
ID 685783
Institutional Source Beutler Lab
Gene Symbol Greb1
Ensembl Gene ENSMUSG00000036523
Gene Name gene regulated by estrogen in breast cancer protein
Synonyms 5730583K22Rik
MMRRC Submission 068843-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9013 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 16720616-16850887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16789970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 26 (L26S)
Ref Sequence ENSEMBL: ENSMUSP00000044454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048064] [ENSMUST00000159120] [ENSMUST00000161998] [ENSMUST00000162112]
AlphaFold Q3UHK3
Predicted Effect probably damaging
Transcript: ENSMUST00000048064
AA Change: L26S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044454
Gene: ENSMUSG00000036523
AA Change: L26S

DomainStartEndE-ValueType
Pfam:GREB1 1 1954 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159120
AA Change: L26S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125339
Gene: ENSMUSG00000036523
AA Change: L26S

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000161998
AA Change: L26S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124275
Gene: ENSMUSG00000036523
AA Change: L26S

DomainStartEndE-ValueType
low complexity region 52 71 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162112
AA Change: L26S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124348
Gene: ENSMUSG00000036523
AA Change: L26S

DomainStartEndE-ValueType
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: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik G T 14: 70,394,176 (GRCm39) L200I probably damaging Het
Afap1 G A 5: 36,133,932 (GRCm39) D456N possibly damaging Het
Afm A T 5: 90,671,594 (GRCm39) D92V probably damaging Het
Ahi1 T C 10: 20,883,658 (GRCm39) I841T probably benign Het
Asb1 T C 1: 91,480,163 (GRCm39) probably null Het
Astn1 A T 1: 158,348,070 (GRCm39) I507F probably damaging Het
Astn2 A G 4: 65,910,584 (GRCm39) M468T probably benign Het
C030006K11Rik T C 15: 76,608,004 (GRCm39) S5G probably benign Het
C9 A T 15: 6,516,193 (GRCm39) D332V probably damaging Het
Cacna1c A T 6: 118,719,266 (GRCm39) S423T probably damaging Het
Cbx8 T C 11: 118,929,649 (GRCm39) I315V possibly damaging Het
Ccdc50 T A 16: 27,228,106 (GRCm39) I91N probably damaging Het
Col4a1 T A 8: 11,272,270 (GRCm39) I707L probably benign Het
Cyc1 T C 15: 76,229,019 (GRCm39) V154A possibly damaging Het
Cyp4f40 A T 17: 32,890,173 (GRCm39) H281L probably benign Het
D130052B06Rik T G 11: 33,573,491 (GRCm39) C74W unknown Het
Dap G A 15: 31,273,344 (GRCm39) G66D probably damaging Het
Dclk3 A T 9: 111,297,566 (GRCm39) H370L probably benign Het
Dgka C A 10: 128,566,071 (GRCm39) E360* probably null Het
Dst A G 1: 34,217,165 (GRCm39) I1202V possibly damaging Het
Fzd10 C G 5: 128,679,369 (GRCm39) P363R probably damaging Het
Gpx2 A G 12: 76,842,118 (GRCm39) L11P probably damaging Het
Gtpbp2 A G 17: 46,475,740 (GRCm39) K163R probably benign Het
Hsd3b1 A T 3: 98,759,977 (GRCm39) L338Q probably damaging Het
Il15ra A G 2: 11,732,576 (GRCm39) S67G probably benign Het
Kcnc2 C T 10: 112,107,723 (GRCm39) A38V probably damaging Het
Kif19b A T 5: 140,449,368 (GRCm39) Y180F probably damaging Het
Klk1b16 A G 7: 43,790,332 (GRCm39) D169G probably benign Het
Kmt2a T C 9: 44,761,208 (GRCm39) K214E probably damaging Het
Lcor T A 19: 41,573,189 (GRCm39) V648D probably damaging Het
Lrriq1 C T 10: 103,050,931 (GRCm39) G607D probably damaging Het
Lysmd3 T A 13: 81,817,580 (GRCm39) S186T probably damaging Het
Meis1 G T 11: 18,966,354 (GRCm39) D6E probably benign Het
Mfsd4b2 T G 10: 39,798,062 (GRCm39) T98P probably benign Het
Muc16 T A 9: 18,424,069 (GRCm39) E8193V possibly damaging Het
Nr1i3 A G 1: 171,042,026 (GRCm39) T37A probably damaging Het
Nr5a2 A T 1: 136,872,745 (GRCm39) D112E probably damaging Het
Oas1c A G 5: 120,943,497 (GRCm39) I214T probably damaging Het
Omp A G 7: 97,794,552 (GRCm39) M25T probably benign Het
Or12d17 G A 17: 37,777,441 (GRCm39) V115M probably benign Het
Or12j4 A T 7: 140,046,179 (GRCm39) R22W probably benign Het
Or13c9 C A 4: 52,935,900 (GRCm39) A128S probably benign Het
Or5p58 A G 7: 107,694,471 (GRCm39) I102T probably benign Het
Or6c210 T C 10: 129,495,702 (GRCm39) F9S probably damaging Het
Or7g12 A T 9: 18,899,874 (GRCm39) I197F possibly damaging Het
Paf1 A G 7: 28,098,133 (GRCm39) E381G unknown Het
Pcdhga8 A G 18: 37,858,997 (GRCm39) T18A probably benign Het
Pclo T C 5: 14,727,627 (GRCm39) S2162P unknown Het
Psg25 T C 7: 18,258,690 (GRCm39) I329V probably benign Het
Ptov1 A G 7: 44,514,985 (GRCm39) S209P possibly damaging Het
Ralgapb A G 2: 158,279,060 (GRCm39) K397E probably damaging Het
Ryr2 T A 13: 11,618,618 (GRCm39) T3866S probably damaging Het
Sdccag8 G A 1: 176,652,371 (GRCm39) V41I probably benign Het
Sdf2l1 T A 16: 16,948,630 (GRCm39) D136V possibly damaging Het
Slc26a7 A T 4: 14,506,514 (GRCm39) S612T probably damaging Het
Snf8 T C 11: 95,930,126 (GRCm39) F43L probably benign Het
Snta1 A T 2: 154,245,809 (GRCm39) M104K probably damaging Het
Sox2 T A 3: 34,704,746 (GRCm39) M61K probably damaging Het
Spata31e3 T C 13: 50,401,588 (GRCm39) H246R possibly damaging Het
Spats2 T A 15: 99,097,128 (GRCm39) D293E probably damaging Het
Spta1 A G 1: 174,050,174 (GRCm39) D1738G probably damaging Het
Sqstm1 A T 11: 50,098,684 (GRCm39) Y89N probably damaging Het
Stat4 T A 1: 52,050,957 (GRCm39) N5K probably benign Het
Syne4 A G 7: 30,017,418 (GRCm39) H294R probably damaging Het
Tbc1d7 A C 13: 43,322,310 (GRCm39) F45V probably damaging Het
Tekt3 T A 11: 62,974,684 (GRCm39) N334K probably damaging Het
Tgfbr3l A G 8: 4,300,620 (GRCm39) H266R possibly damaging Het
Trav7-6 A G 14: 53,954,604 (GRCm39) K65E probably benign Het
Trip11 A G 12: 101,851,377 (GRCm39) S896P probably damaging Het
Tubb6 T C 18: 67,526,046 (GRCm39) V66A possibly damaging Het
Tyk2 A G 9: 21,016,403 (GRCm39) L1189P probably damaging Het
Usp34 T G 11: 23,320,302 (GRCm39) V911G Het
Wdr53 C T 16: 32,075,413 (GRCm39) A206V probably damaging Het
Xrn1 A G 9: 95,920,981 (GRCm39) E1364G probably benign Het
Ywhag T C 5: 135,940,217 (GRCm39) M126V probably damaging Het
Zfp383 C T 7: 29,614,717 (GRCm39) P324L probably damaging Het
Other mutations in Greb1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGACTCTAGATCTTCTGAATAGGGC -3'
(R):5'- TAATTGCCTGGCAGGAGCTG -3'

Sequencing Primer
(F):5'- CTGTCGTTAACGGTAGCCACAC -3'
(R):5'- CTCCTGTCTGGTGCTGAGC -3'
Posted On 2021-10-11