Mutagenetix > Incidental Mutation

Incidental Mutation 'R9497:Greb1l'

717333

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9497 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10325177-10562934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10458600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 60 (D60E)

Ref Sequence

ENSEMBL: ENSMUSP00000049003 (fasta)

Gene Model

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

AlphaFold

B9EJV3

Predicted Effect

probably benign
Transcript: ENSMUST00000048977
AA Change: D60E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: D60E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172532
AA Change: D60E

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134090
Gene: ENSMUSG00000042942
AA Change: D60E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	A	C	1: 86,046,171 (GRCm38)	E70A	possibly damaging	Het
4933425L06Rik	G	T	13: 105,100,479 (GRCm38)	L79F	probably damaging	Het
Abcb5	C	A	12: 118,936,115 (GRCm38)	Q272H	probably damaging	Het
Acoxl	T	C	2: 127,877,786 (GRCm38)	Y156H	probably damaging	Het
Alg9	T	C	9: 50,800,136 (GRCm38)	F305L	probably damaging	Het
Apobec4	T	C	1: 152,757,196 (GRCm38)	V325A	probably benign	Het
Aqp9	T	G	9: 71,162,369 (GRCm38)	D46A	probably benign	Het
Atp13a4	T	A	16: 29,469,312 (GRCm38)		probably null	Het
BC051019	A	G	7: 109,716,259 (GRCm38)	F263S	probably damaging	Het
Bicc1	A	T	10: 70,940,998 (GRCm38)		probably null	Het
Birc3	G	A	9: 7,861,027 (GRCm38)	Q97*	probably null	Het
Capn13	G	T	17: 73,326,367 (GRCm38)	T533N	probably benign	Het
Casp6	G	A	3: 129,905,910 (GRCm38)	V13M	probably benign	Het
Cdh10	A	T	15: 18,964,181 (GRCm38)	E143V	probably damaging	Het
Cobl	T	A	11: 12,253,501 (GRCm38)	Q1067L	probably benign	Het
Cr2	A	G	1: 195,168,435 (GRCm38)	V241A	probably damaging	Het
Cyp2c23	C	T	19: 44,021,646 (GRCm38)	V87M	probably damaging	Het
Cyp2j9	G	A	4: 96,571,974 (GRCm38)	Q431*	probably null	Het
Cyp2t4	G	A	7: 27,155,292 (GRCm38)	V66M	possibly damaging	Het
Cyp4a12b	A	T	4: 115,414,571 (GRCm38)	M160L	probably benign	Het
Ddhd2	T	A	8: 25,727,704 (GRCm38)	K715N	possibly damaging	Het
Ecscr	T	C	18: 35,718,383 (GRCm38)	Y32C	probably damaging	Het
Ednra	A	T	8: 77,720,305 (GRCm38)	L48Q	probably benign	Het
Eya4	C	T	10: 23,111,559 (GRCm38)		probably null	Het
F13a1	C	A	13: 36,898,144 (GRCm38)	V529L	probably benign	Het
Fam151b	A	T	13: 92,474,113 (GRCm38)	I56K	probably damaging	Het
Fam19a4	T	A	6: 96,843,870 (GRCm38)	I93F	possibly damaging	Het
Fam212a	A	G	9: 107,984,739 (GRCm38)	V128A	probably benign	Het
Fat3	A	G	9: 15,992,208 (GRCm38)	I2997T	probably damaging	Het
Fgfr2	A	T	7: 130,164,033 (GRCm38)	F817I	probably damaging	Het
Fras1	G	T	5: 96,737,036 (GRCm38)	C2591F	probably damaging	Het
Fryl	T	C	5: 73,057,791 (GRCm38)	D2214G		Het
Galntl6	A	T	8: 57,837,376 (GRCm38)	D394E	probably damaging	Het
Ggcx	C	A	6: 72,429,207 (GRCm38)	N605K	probably damaging	Het
Gja5	A	G	3: 97,051,485 (GRCm38)	N286S		Het
Gm4553	A	T	7: 142,165,561 (GRCm38)	C43*	probably null	Het
Gpr158	T	C	2: 21,827,014 (GRCm38)	V975A	probably benign	Het
Hao2	A	T	3: 98,877,146 (GRCm38)	L301H	probably damaging	Het
Hic1	A	G	11: 75,169,305 (GRCm38)	L72P	possibly damaging	Het
Hs3st5	A	C	10: 36,833,374 (GRCm38)	N302H	probably benign	Het
Htr1d	A	G	4: 136,442,352 (GRCm38)		probably benign	Het
Kdm7a	T	C	6: 39,151,319 (GRCm38)	D526G	probably damaging	Het
Kif5a	T	C	10: 127,243,484 (GRCm38)	S282G	probably damaging	Het
Klhdc7b	T	C	15: 89,388,260 (GRCm38)	V457A	possibly damaging	Het
Lcorl	A	G	5: 45,733,997 (GRCm38)	V421A	probably benign	Het
Ltc4s	A	G	11: 50,236,559 (GRCm38)	S150P	unknown	Het
Mdfic	T	G	6: 15,770,509 (GRCm38)	D171E	probably benign	Het
Mdfic	C	T	6: 15,720,853 (GRCm38)	R18W	unknown	Het
Meis2	T	C	2: 115,864,243 (GRCm38)	D473G	possibly damaging	Het
Mettl17	A	T	14: 51,891,572 (GRCm38)	Q433L	unknown	Het
Mettl25	T	C	10: 105,841,229 (GRCm38)	R31G	probably damaging	Het
Mroh2b	T	A	15: 4,921,363 (GRCm38)	I581N	probably damaging	Het
Myh7	A	T	14: 54,980,384 (GRCm38)	N1091K	probably benign	Het
Mysm1	T	C	4: 94,960,398 (GRCm38)	D466G	probably benign	Het
Ncoa6	T	C	2: 155,406,318 (GRCm38)	T1689A	probably damaging	Het
Ndfip2	A	G	14: 105,304,811 (GRCm38)	T332A	probably benign	Het
Nfkbil1	G	A	17: 35,220,629 (GRCm38)	P303S	probably damaging	Het
Nfx1	T	G	4: 40,994,104 (GRCm38)	N604K	probably benign	Het
Npb	T	C	11: 120,608,647 (GRCm38)	F47L	probably benign	Het
Nr2c2	C	T	6: 92,156,692 (GRCm38)	T259I	possibly damaging	Het
Obsl1	C	T	1: 75,490,840 (GRCm38)	C1430Y	probably damaging	Het
Olfr121	T	A	17: 37,752,051 (GRCm38)	Y66N	probably damaging	Het
Olfr1358	A	G	10: 78,519,904 (GRCm38)	I99V	probably benign	Het
Olfr308	G	A	7: 86,321,781 (GRCm38)	T57M	probably damaging	Het
Olfr733	C	T	14: 50,298,905 (GRCm38)	V135I	probably benign	Het
Olfr771	C	A	10: 129,160,595 (GRCm38)	V130L	probably benign	Het
Olfr981	A	T	9: 40,023,320 (GRCm38)	H309L	probably benign	Het
Olfr984	G	A	9: 40,100,639 (GRCm38)	P284S	probably damaging	Het
Pdcd6	A	T	13: 74,305,576 (GRCm38)	F148I	probably damaging	Het
Pih1d1	A	T	7: 45,154,365 (GRCm38)	Q16L	unknown	Het
Ppp1r10	T	C	17: 35,924,894 (GRCm38)	S123P	probably damaging	Het
Ppp1r13b	A	T	12: 111,841,012 (GRCm38)	M305K	probably benign	Het
Prg2	A	G	2: 84,981,341 (GRCm38)	K2E	possibly damaging	Het
Prkd1	A	T	12: 50,391,324 (GRCm38)		probably null	Het
Rfx7	T	A	9: 72,619,141 (GRCm38)	H1204Q	probably benign	Het
Serpina3k	A	C	12: 104,343,171 (GRCm38)	Q291H	probably benign	Het
Tas2r107	G	T	6: 131,659,586 (GRCm38)	Q167K	probably benign	Het
Tle1	A	C	4: 72,152,898 (GRCm38)		probably benign	Het
Tm7sf3	C	T	6: 146,623,681 (GRCm38)	D89N	possibly damaging	Het
Trpa1	C	T	1: 14,918,802 (GRCm38)	E12K	probably benign	Het
Vmn2r7	T	C	3: 64,707,053 (GRCm38)	T447A	probably benign	Het
Wdr86	T	C	5: 24,715,540 (GRCm38)	Y283C	probably benign	Het
Zfp329	A	T	7: 12,810,288 (GRCm38)	Y436*	probably null	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
R7832:Greb1l	UTSW	18	10,542,056 (GRCm38)	missense	probably benign	0.38
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
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'- TCTCCACTGCAGGTAAGTTTC -3'
(R):5'- TGTCGTGCAAGATCCTTCTGG -3'

Sequencing Primer
(F):5'- GCAGGTAAGTTTCTCAATTACAGGCC -3'
(R):5'- TGCAAGATCCTTCTGGGGCAG -3'

Posted On

2022-07-18