Mutagenetix > Incidental Mutation

Incidental Mutation 'R7832:Greb1l'

605746

Institutional Source

Beutler Lab

Gene Symbol

Greb1l

Ensembl Gene

ENSMUSG00000042942

Gene Name

growth regulation by estrogen in breast cancer-like

Synonyms

AK220484, mKIAA4095

MMRRC Submission

045886-MU

Accession Numbers

Genbank: NM_001083628; MGI: 3576497

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7832 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10325177-10562934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 10542056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 1268 (E1268Q)

Ref Sequence

ENSEMBL: ENSMUSP00000049003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048977] [ENSMUST00000172532] [ENSMUST00000172680]

AlphaFold

B9EJV3

Predicted Effect

probably benign
Transcript: ENSMUST00000048977
AA Change: E1268Q

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: E1268Q

Domain	Start	End	E-Value	Type
Pfam:GREB1	1	1172	N/A	PFAM
Pfam:GREB1	1154	1913	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172532

SMART Domains

Protein: ENSMUSP00000134090
Gene: ENSMUSG00000042942

Domain	Start	End	E-Value	Type
low complexity region	83	100	N/A	INTRINSIC
low complexity region	282	301	N/A	INTRINSIC
low complexity region	606	617	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172680

SMART Domains

Protein: ENSMUSP00000134314
Gene: ENSMUSG00000042942

Domain	Start	End	E-Value	Type
low complexity region	116	129	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (78/80)

Allele List at MGI

All alleles(5) : Targeted, other(2) Gene trapped(3)

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	G	A	5: 135,009,800 (GRCm38)	C30Y	probably benign	Het
Akr1c20	C	T	13: 4,512,672 (GRCm38)	V95M	probably damaging	Het
Ano7	A	G	1: 93,394,473 (GRCm38)	D401G	probably benign	Het
Arhgef10l	G	A	4: 140,578,305 (GRCm38)	T176I	possibly damaging	Het
Armc2	A	C	10: 41,966,796 (GRCm38)	V337G	probably damaging	Het
Atp6v0d2	T	A	4: 19,922,400 (GRCm38)	Y33F	probably benign	Het
Banp	A	G	8: 122,020,552 (GRCm38)	S447G	probably benign	Het
Car8	T	A	4: 8,238,860 (GRCm38)	Y32F	possibly damaging	Het
Ccdc188	C	T	16: 18,218,675 (GRCm38)	P124S	probably damaging	Het
Cdc23	A	T	18: 34,647,019 (GRCm38)	D85E	probably benign	Het
Cnot6l	T	C	5: 96,094,225 (GRCm38)	E213G	possibly damaging	Het
Cntnap4	A	G	8: 112,757,481 (GRCm38)	T389A	probably benign	Het
Cramp1l	A	T	17: 24,983,222 (GRCm38)	C429S	probably damaging	Het
Crygn	T	C	5: 24,756,074 (GRCm38)	H78R	probably benign	Het
D630003M21Rik	T	A	2: 158,217,668 (GRCm38)	D104V	probably damaging	Het
Dcaf10	T	G	4: 45,348,196 (GRCm38)	H217Q	probably damaging	Het
Dmrtb1	C	T	4: 107,683,982 (GRCm38)	V61M	probably benign	Het
Dnaic1	A	G	4: 41,605,823 (GRCm38)	E271G	probably benign	Het
Efr3a	G	A	15: 65,829,830 (GRCm38)	V198I	probably benign	Het
Emsy	G	A	7: 98,639,853 (GRCm38)	T79M	probably damaging	Het
Ergic1	A	G	17: 26,634,475 (GRCm38)	D145G	probably damaging	Het
Fah	A	G	7: 84,595,478 (GRCm38)	V229A	probably damaging	Het
Fam196b	A	G	11: 34,403,034 (GRCm38)	T359A	probably benign	Het
Fam76a	G	A	4: 132,902,031 (GRCm38)	T270I	probably damaging	Het
Fat4	A	T	3: 39,001,204 (GRCm38)	M4191L	probably benign	Het
Fbxl22	G	T	9: 66,511,717 (GRCm38)	R213S	probably benign	Het
Fktn	T	C	4: 53,734,859 (GRCm38)	F127L	probably benign	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203 (GRCm38)		probably benign	Het
Gabbr2	A	T	4: 46,734,096 (GRCm38)	S541T	probably benign	Het
Gm7489	A	G	15: 53,886,006 (GRCm38)	H158R	unknown	Het
H2-D1	A	G	17: 35,263,872 (GRCm38)	D126G	probably damaging	Het
Ikzf3	T	A	11: 98,518,699 (GRCm38)	T13S	probably benign	Het
Il23r	T	C	6: 67,423,862 (GRCm38)	T495A	probably benign	Het
Irf5	A	G	6: 29,535,462 (GRCm38)	T230A	probably benign	Het
Itga2b	A	T	11: 102,457,282 (GRCm38)	I831N	probably damaging	Het
Itgb4	A	G	11: 116,000,261 (GRCm38)	D1168G	probably damaging	Het
Kcnma1	G	T	14: 23,390,923 (GRCm38)	P605Q	probably benign	Het
Larp7	A	T	3: 127,544,267 (GRCm38)	M381K	possibly damaging	Het
Lfng	G	A	5: 140,612,833 (GRCm38)	G269D	probably benign	Het
Liph	T	C	16: 21,962,236 (GRCm38)	I335V	probably benign	Het
Map2k2	A	T	10: 81,118,206 (GRCm38)	I169F	possibly damaging	Het
Mmrn1	T	A	6: 60,987,060 (GRCm38)		probably null	Het
Nod2	A	G	8: 88,660,797 (GRCm38)		probably null	Het
Olfr1413	T	C	1: 92,573,497 (GRCm38)	F109L	probably benign	Het
Olfr1453	T	A	19: 13,027,996 (GRCm38)	Y111F	probably benign	Het
Olfr610	A	C	7: 103,506,379 (GRCm38)	L189R	probably damaging	Het
Pcdh20	G	T	14: 88,469,707 (GRCm38)	F52L	probably null	Het
Pkhd1	A	T	1: 20,502,999 (GRCm38)	N1894K	probably damaging	Het
Pla2r1	T	A	2: 60,504,192 (GRCm38)	D412V	possibly damaging	Het
Pole	T	G	5: 110,317,797 (GRCm38)	M1197R	probably benign	Het
Pom121l2	C	T	13: 21,983,878 (GRCm38)	T773I	possibly damaging	Het
Ppp2r5d	A	T	17: 46,684,546 (GRCm38)	M497K	probably benign	Het
Rbm45	G	T	2: 76,376,453 (GRCm38)	V270F	possibly damaging	Het
Ros1	A	T	10: 52,144,861 (GRCm38)	F673I	probably damaging	Het
Rtn4	T	A	11: 29,741,048 (GRCm38)	L1113*	probably null	Het
Scn4a	A	G	11: 106,322,015 (GRCm38)	I1388T	probably benign	Het
Sema3c	G	A	5: 17,694,847 (GRCm38)	V446I	probably damaging	Het
Six4	T	C	12: 73,112,634 (GRCm38)	Y176C	probably damaging	Het
Slc35a5	T	A	16: 45,144,207 (GRCm38)	K221M	possibly damaging	Het
Slc6a19	A	G	13: 73,693,063 (GRCm38)	I76T	probably damaging	Het
Slfn4	A	G	11: 83,186,593 (GRCm38)	D69G	probably damaging	Het
Smc6	T	C	12: 11,317,843 (GRCm38)	F1085L	probably benign	Het
Spatc1l	A	G	10: 76,562,390 (GRCm38)	S9G	probably benign	Het
Stx8	T	A	11: 68,109,280 (GRCm38)	I182N	probably damaging	Het
Sult2a8	A	T	7: 14,413,671 (GRCm38)	C232S	probably benign	Het
Susd4	G	A	1: 182,858,505 (GRCm38)	A207T	probably benign	Het
Svep1	G	A	4: 58,054,539 (GRCm38)	P3350S	probably benign	Het
Tbx20	A	T	9: 24,773,812 (GRCm38)	S12T	probably damaging	Het
Tfrc	A	G	16: 32,619,167 (GRCm38)	K346R	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157 (GRCm38)		probably null	Het
Umodl1	A	T	17: 30,973,692 (GRCm38)		probably null	Het
Vmn1r201	T	C	13: 22,475,368 (GRCm38)	F251L	possibly damaging	Het
Vmn1r230	A	G	17: 20,846,671 (GRCm38)	T41A	probably benign	Het
Vmn2r20	A	G	6: 123,385,923 (GRCm38)	L634P	probably damaging	Het
Vmn2r81	A	T	10: 79,293,830 (GRCm38)	R852W	probably damaging	Het
Wdr41	A	T	13: 95,015,193 (GRCm38)	N287I	probably benign	Het
Zfp202	A	G	9: 40,210,462 (GRCm38)	D285G	possibly damaging	Het

Other mutations in Greb1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Greb1l	APN	18	10,555,962 (GRCm38)	missense	possibly damaging	0.90
IGL01554:Greb1l	APN	18	10,522,144 (GRCm38)	missense	probably benign	0.01
IGL01563:Greb1l	APN	18	10,469,399 (GRCm38)	missense	probably damaging	0.99
IGL01944:Greb1l	APN	18	10,557,280 (GRCm38)	missense	possibly damaging	0.91
IGL02110:Greb1l	APN	18	10,515,271 (GRCm38)	missense	probably damaging	1.00
IGL02249:Greb1l	APN	18	10,532,961 (GRCm38)	missense	probably damaging	1.00
IGL02318:Greb1l	APN	18	10,469,388 (GRCm38)	missense	possibly damaging	0.91
IGL02340:Greb1l	APN	18	10,515,200 (GRCm38)	missense	probably damaging	0.99
IGL02516:Greb1l	APN	18	10,537,064 (GRCm38)	missense	probably benign	0.31
IGL02566:Greb1l	APN	18	10,503,299 (GRCm38)	missense	probably damaging	0.99
IGL02583:Greb1l	APN	18	10,542,362 (GRCm38)	missense	probably damaging	1.00
IGL02838:Greb1l	APN	18	10,560,430 (GRCm38)	missense	probably damaging	1.00
A4554:Greb1l	UTSW	18	10,532,862 (GRCm38)	missense	possibly damaging	0.58
PIT4453001:Greb1l	UTSW	18	10,533,032 (GRCm38)	missense	probably benign	0.08
PIT4453001:Greb1l	UTSW	18	10,533,031 (GRCm38)	missense	probably damaging	0.98
R0099:Greb1l	UTSW	18	10,509,158 (GRCm38)	missense	probably damaging	1.00
R0226:Greb1l	UTSW	18	10,522,076 (GRCm38)	intron	probably benign
R0234:Greb1l	UTSW	18	10,560,331 (GRCm38)	missense	probably damaging	1.00
R0234:Greb1l	UTSW	18	10,560,331 (GRCm38)	missense	probably damaging	1.00
R0239:Greb1l	UTSW	18	10,458,567 (GRCm38)	splice site	probably benign
R0316:Greb1l	UTSW	18	10,547,420 (GRCm38)	missense	probably damaging	1.00
R0369:Greb1l	UTSW	18	10,469,375 (GRCm38)	missense	possibly damaging	0.80
R0394:Greb1l	UTSW	18	10,523,374 (GRCm38)	missense	probably damaging	0.99
R0478:Greb1l	UTSW	18	10,509,281 (GRCm38)	missense	probably damaging	1.00
R0555:Greb1l	UTSW	18	10,458,781 (GRCm38)	splice site	probably benign
R0671:Greb1l	UTSW	18	10,474,303 (GRCm38)	missense	probably damaging	1.00
R1282:Greb1l	UTSW	18	10,547,289 (GRCm38)	missense	probably benign	0.13
R1574:Greb1l	UTSW	18	10,554,997 (GRCm38)	missense	possibly damaging	0.95
R1574:Greb1l	UTSW	18	10,554,997 (GRCm38)	missense	possibly damaging	0.95
R1607:Greb1l	UTSW	18	10,529,703 (GRCm38)	missense	possibly damaging	0.85
R1666:Greb1l	UTSW	18	10,529,708 (GRCm38)	critical splice donor site	probably null
R1666:Greb1l	UTSW	18	10,501,080 (GRCm38)	critical splice donor site	probably null
R1720:Greb1l	UTSW	18	10,553,848 (GRCm38)	missense	probably benign	0.19
R1808:Greb1l	UTSW	18	10,542,143 (GRCm38)	missense	probably benign
R1829:Greb1l	UTSW	18	10,509,314 (GRCm38)	missense	probably damaging	1.00
R1897:Greb1l	UTSW	18	10,498,992 (GRCm38)	missense	probably benign	0.00
R1967:Greb1l	UTSW	18	10,501,049 (GRCm38)	missense	possibly damaging	0.91
R2025:Greb1l	UTSW	18	10,515,221 (GRCm38)	missense	possibly damaging	0.71
R2086:Greb1l	UTSW	18	10,523,281 (GRCm38)	missense	probably damaging	1.00
R2125:Greb1l	UTSW	18	10,511,422 (GRCm38)	missense	probably damaging	0.98
R2139:Greb1l	UTSW	18	10,555,011 (GRCm38)	missense	probably damaging	1.00
R2255:Greb1l	UTSW	18	10,554,857 (GRCm38)	missense	probably damaging	1.00
R2256:Greb1l	UTSW	18	10,503,307 (GRCm38)	missense	possibly damaging	0.91
R2257:Greb1l	UTSW	18	10,503,307 (GRCm38)	missense	possibly damaging	0.91
R2880:Greb1l	UTSW	18	10,547,288 (GRCm38)	missense	possibly damaging	0.93
R3623:Greb1l	UTSW	18	10,542,380 (GRCm38)	missense	probably damaging	0.99
R3778:Greb1l	UTSW	18	10,469,444 (GRCm38)	missense	possibly damaging	0.60
R3975:Greb1l	UTSW	18	10,522,247 (GRCm38)	missense	possibly damaging	0.71
R4038:Greb1l	UTSW	18	10,515,209 (GRCm38)	missense	possibly damaging	0.93
R4062:Greb1l	UTSW	18	10,522,150 (GRCm38)	missense	probably damaging	0.99
R4134:Greb1l	UTSW	18	10,529,708 (GRCm38)	critical splice donor site	probably null
R4342:Greb1l	UTSW	18	10,544,561 (GRCm38)	missense	probably benign	0.12
R4409:Greb1l	UTSW	18	10,503,182 (GRCm38)	missense	possibly damaging	0.70
R4600:Greb1l	UTSW	18	10,553,705 (GRCm38)	missense	probably damaging	1.00
R4618:Greb1l	UTSW	18	10,498,965 (GRCm38)	missense	probably benign	0.00
R4683:Greb1l	UTSW	18	10,529,563 (GRCm38)	splice site	probably null
R4686:Greb1l	UTSW	18	10,522,112 (GRCm38)	missense	probably damaging	0.98
R4707:Greb1l	UTSW	18	10,532,922 (GRCm38)	missense	probably benign	0.02
R4780:Greb1l	UTSW	18	10,541,792 (GRCm38)	missense	probably benign	0.00
R4819:Greb1l	UTSW	18	10,458,358 (GRCm38)	missense	probably damaging	1.00
R4925:Greb1l	UTSW	18	10,547,447 (GRCm38)	missense	possibly damaging	0.79
R4960:Greb1l	UTSW	18	10,547,306 (GRCm38)	missense	probably damaging	0.99
R5150:Greb1l	UTSW	18	10,555,950 (GRCm38)	frame shift	probably null
R5154:Greb1l	UTSW	18	10,458,312 (GRCm38)	missense	probably benign	0.02
R5269:Greb1l	UTSW	18	10,511,409 (GRCm38)	missense	probably benign
R5290:Greb1l	UTSW	18	10,542,427 (GRCm38)	missense	probably damaging	1.00
R5310:Greb1l	UTSW	18	10,542,427 (GRCm38)	missense	probably damaging	1.00
R5328:Greb1l	UTSW	18	10,553,720 (GRCm38)	missense	probably damaging	1.00
R5337:Greb1l	UTSW	18	10,509,143 (GRCm38)	missense	probably damaging	1.00
R5393:Greb1l	UTSW	18	10,458,312 (GRCm38)	missense	probably benign	0.02
R5402:Greb1l	UTSW	18	10,537,169 (GRCm38)	missense	probably benign	0.26
R5718:Greb1l	UTSW	18	10,542,427 (GRCm38)	missense	probably damaging	1.00
R5719:Greb1l	UTSW	18	10,542,427 (GRCm38)	missense	probably damaging	1.00
R5720:Greb1l	UTSW	18	10,542,427 (GRCm38)	missense	probably damaging	1.00
R5721:Greb1l	UTSW	18	10,542,427 (GRCm38)	missense	probably damaging	1.00
R5902:Greb1l	UTSW	18	10,538,302 (GRCm38)	missense	probably benign	0.00
R5993:Greb1l	UTSW	18	10,544,455 (GRCm38)	missense	probably benign	0.10
R6035:Greb1l	UTSW	18	10,501,025 (GRCm38)	missense	possibly damaging	0.91
R6035:Greb1l	UTSW	18	10,501,025 (GRCm38)	missense	possibly damaging	0.91
R6045:Greb1l	UTSW	18	10,547,068 (GRCm38)	missense	probably damaging	1.00
R6063:Greb1l	UTSW	18	10,557,340 (GRCm38)	missense	probably damaging	1.00
R6297:Greb1l	UTSW	18	10,469,494 (GRCm38)	missense	probably damaging	1.00
R6405:Greb1l	UTSW	18	10,501,076 (GRCm38)	missense	probably benign	0.30
R6552:Greb1l	UTSW	18	10,541,814 (GRCm38)	missense	probably benign	0.00
R6572:Greb1l	UTSW	18	10,522,131 (GRCm38)	missense	probably benign	0.07
R6575:Greb1l	UTSW	18	10,547,347 (GRCm38)	missense	possibly damaging	0.88
R6922:Greb1l	UTSW	18	10,547,482 (GRCm38)	missense	possibly damaging	0.88
R6957:Greb1l	UTSW	18	10,558,786 (GRCm38)	missense	probably benign	0.23
R6962:Greb1l	UTSW	18	10,547,327 (GRCm38)	missense	probably damaging	1.00
R7012:Greb1l	UTSW	18	10,529,707 (GRCm38)	critical splice donor site	probably null
R7179:Greb1l	UTSW	18	10,544,576 (GRCm38)	missense	probably benign	0.00
R7251:Greb1l	UTSW	18	10,515,319 (GRCm38)	missense	probably damaging	1.00
R7275:Greb1l	UTSW	18	10,544,561 (GRCm38)	missense	probably benign	0.12
R7301:Greb1l	UTSW	18	10,544,970 (GRCm38)	missense	probably damaging	1.00
R7307:Greb1l	UTSW	18	10,538,142 (GRCm38)	missense	probably damaging	0.99
R7455:Greb1l	UTSW	18	10,554,915 (GRCm38)	missense	probably damaging	1.00
R7934:Greb1l	UTSW	18	10,474,371 (GRCm38)	nonsense	probably null
R8137:Greb1l	UTSW	18	10,474,357 (GRCm38)	missense	possibly damaging	0.77
R8138:Greb1l	UTSW	18	10,533,060 (GRCm38)	missense	probably benign	0.13
R8208:Greb1l	UTSW	18	10,510,703 (GRCm38)	missense	probably damaging	1.00
R8227:Greb1l	UTSW	18	10,515,371 (GRCm38)	missense	probably damaging	1.00
R8312:Greb1l	UTSW	18	10,511,587 (GRCm38)	intron	probably benign
R8331:Greb1l	UTSW	18	10,458,706 (GRCm38)	missense	possibly damaging	0.96
R8364:Greb1l	UTSW	18	10,529,687 (GRCm38)	missense	possibly damaging	0.85
R8389:Greb1l	UTSW	18	10,529,613 (GRCm38)	missense	probably benign	0.00
R8695:Greb1l	UTSW	18	10,544,450 (GRCm38)	missense	probably benign	0.01
R8795:Greb1l	UTSW	18	10,553,739 (GRCm38)	missense	probably damaging	0.98
R8836:Greb1l	UTSW	18	10,509,257 (GRCm38)	missense	probably benign	0.30
R8862:Greb1l	UTSW	18	10,555,042 (GRCm38)	missense	possibly damaging	0.90
R8872:Greb1l	UTSW	18	10,529,684 (GRCm38)	missense	probably benign	0.18
R8874:Greb1l	UTSW	18	10,544,896 (GRCm38)	missense	probably benign	0.01
R8886:Greb1l	UTSW	18	10,553,843 (GRCm38)	missense	probably benign	0.21
R8921:Greb1l	UTSW	18	10,541,825 (GRCm38)	missense	probably benign	0.01
R8997:Greb1l	UTSW	18	10,510,747 (GRCm38)	missense	probably damaging	1.00
R9015:Greb1l	UTSW	18	10,541,675 (GRCm38)	missense	probably benign	0.00
R9018:Greb1l	UTSW	18	10,542,004 (GRCm38)	missense	possibly damaging	0.76
R9074:Greb1l	UTSW	18	10,558,795 (GRCm38)	missense	probably damaging	1.00
R9074:Greb1l	UTSW	18	10,532,797 (GRCm38)	missense	probably damaging	1.00
R9117:Greb1l	UTSW	18	10,542,422 (GRCm38)	missense	probably benign	0.31
R9189:Greb1l	UTSW	18	10,499,983 (GRCm38)	missense	probably benign
R9332:Greb1l	UTSW	18	10,532,796 (GRCm38)	missense	possibly damaging	0.92
R9367:Greb1l	UTSW	18	10,522,130 (GRCm38)	missense	probably benign	0.00
R9497:Greb1l	UTSW	18	10,458,600 (GRCm38)	missense	probably benign	0.00
R9796:Greb1l	UTSW	18	10,538,233 (GRCm38)	missense	possibly damaging	0.69
Z1176:Greb1l	UTSW	18	10,515,305 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAAGCAGGAGTGTGACTC -3'
(R):5'- TTACAGCCAAGACAGGGTCC -3'

Sequencing Primer
(F):5'- AGTGTGACTCCTTGGACCC -3'
(R):5'- GGTCCACCCTGCACTATCTG -3'

Posted On

2019-12-20