Mutagenetix > Incidental Mutation

Incidental Mutation 'R2255:Greb1l'

241992

Institutional Source

Beutler Lab

Gene Symbol

Greb1l

Ensembl Gene

ENSMUSG00000042942

Gene Name

growth regulation by estrogen in breast cancer-like

Synonyms

mKIAA4095, AK220484

MMRRC Submission

040255-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10325177-10562940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10554857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1634 (N1634K)

Ref Sequence

ENSEMBL: ENSMUSP00000049003 (fasta)

Gene Model

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

AlphaFold

B9EJV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000048977
AA Change: N1634K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: N1634K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173261

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	A	17: 46,616,561 (GRCm39)	T1210I	probably benign	Het
Agbl1	T	C	7: 76,071,932 (GRCm39)	F581S	probably damaging	Het
Ambra1	A	T	2: 91,747,806 (GRCm39)	N1061Y	probably damaging	Het
Aoc1l1	G	A	6: 48,952,891 (GRCm39)	R272H	possibly damaging	Het
Arl6ip5	T	C	6: 97,209,361 (GRCm39)	L132S	probably damaging	Het
Atp10b	G	A	11: 43,125,207 (GRCm39)	V1058I	probably damaging	Het
B3gnt4	A	C	5: 123,649,342 (GRCm39)	I236L	probably damaging	Het
Bmper	T	A	9: 23,292,759 (GRCm39)	I356N	possibly damaging	Het
Bpifa6	T	A	2: 153,832,815 (GRCm39)	I310N	probably damaging	Het
Btnl9	A	T	11: 49,060,143 (GRCm39)	L535*	probably null	Het
Capn3	A	G	2: 120,331,732 (GRCm39)	E614G	probably benign	Het
Catip	T	C	1: 74,408,159 (GRCm39)		probably benign	Het
Ccdc180	T	A	4: 45,921,996 (GRCm39)	S1023R	probably damaging	Het
Ces2g	G	A	8: 105,694,046 (GRCm39)	E461K	probably damaging	Het
Chad	C	A	11: 94,456,523 (GRCm39)	H200Q	possibly damaging	Het
Crbn	C	T	6: 106,772,159 (GRCm39)		probably null	Het
Crip3	G	C	17: 46,740,298 (GRCm39)	E33Q	probably damaging	Het
D130043K22Rik	A	T	13: 25,040,894 (GRCm39)	R105S	probably damaging	Het
Dmxl1	C	T	18: 49,979,706 (GRCm39)	H114Y	probably benign	Het
Dpp3	T	C	19: 4,968,347 (GRCm39)	N242D	probably benign	Het
Dtx3l	T	C	16: 35,756,949 (GRCm39)	N78S	probably benign	Het
Dync2h1	A	G	9: 6,955,905 (GRCm39)		probably null	Het
Esrp1	A	G	4: 11,365,211 (GRCm39)	V260A	probably damaging	Het
Etfdh	A	G	3: 79,511,349 (GRCm39)	V544A	probably benign	Het
Ezhip	T	G	X: 5,994,754 (GRCm39)	E87A	probably benign	Het
Fcgr1	G	T	3: 96,193,233 (GRCm39)	H255N	possibly damaging	Het
Fcrl2	G	T	3: 87,164,655 (GRCm39)	Y290*	probably null	Het
Frem2	A	G	3: 53,559,935 (GRCm39)	V1524A	probably damaging	Het
Gabbr1	T	C	17: 37,382,758 (GRCm39)	I817T	probably damaging	Het
Gapdhs	G	C	7: 30,429,333 (GRCm39)		probably null	Het
Gm57858	A	G	3: 36,074,099 (GRCm39)	V350A	probably benign	Het
Gopc	A	T	10: 52,225,181 (GRCm39)	I356K	probably damaging	Het
Gpi1	T	C	7: 33,902,302 (GRCm39)	N471S	probably damaging	Het
Gpr171	A	G	3: 59,005,628 (GRCm39)	V49A	probably benign	Het
Gria1	G	A	11: 57,076,775 (GRCm39)	R57H	probably damaging	Het
Herpud1	A	G	8: 95,121,241 (GRCm39)	E344G	probably benign	Het
Hhip	A	G	8: 80,771,810 (GRCm39)	F167L	probably damaging	Het
Hp1bp3	T	A	4: 137,953,209 (GRCm39)	D84E	probably damaging	Het
Ier3	A	G	17: 36,133,153 (GRCm39)	Y145C	probably damaging	Het
Ifi47	A	T	11: 48,987,474 (GRCm39)	I414L	probably benign	Het
Ifnl2	C	T	7: 28,209,638 (GRCm39)	A50T	possibly damaging	Het
Jade1	A	G	3: 41,546,185 (GRCm39)	Y70C	probably damaging	Het
Kif1b	A	T	4: 149,359,454 (GRCm39)	F94L	probably damaging	Het
Krt33a	A	T	11: 99,905,004 (GRCm39)	D167E	possibly damaging	Het
Map1a	A	G	2: 121,134,272 (GRCm39)	D1458G	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,523 (GRCm39)	L26S	possibly damaging	Het
Mtmr2	T	C	9: 13,707,353 (GRCm39)	Y230H	possibly damaging	Het
Nae1	T	A	8: 105,256,700 (GRCm39)	D69V	probably damaging	Het
Nbr1	T	A	11: 101,463,643 (GRCm39)	V625E	possibly damaging	Het
Nek1	T	C	8: 61,542,807 (GRCm39)	L702P	probably damaging	Het
Ntf3	T	C	6: 126,078,689 (GRCm39)	*272W	probably null	Het
Ofcc1	A	C	13: 40,248,181 (GRCm39)	L651R	probably damaging	Het
Olfm3	A	T	3: 114,915,842 (GRCm39)		probably null	Het
Pcdhb19	C	T	18: 37,630,997 (GRCm39)	A264V	probably benign	Het
Pear1	C	A	3: 87,659,493 (GRCm39)	W780C	probably damaging	Het
Pkhd1	T	A	1: 20,635,863 (GRCm39)	H489L	probably benign	Het
Pros1	T	A	16: 62,723,935 (GRCm39)	C228S	possibly damaging	Het
Rbm10	G	A	X: 20,501,978 (GRCm39)	R9H	unknown	Het
Rwdd1	T	C	10: 33,878,466 (GRCm39)	E123G	probably damaging	Het
Slc22a2	G	T	17: 12,818,062 (GRCm39)	V213F	probably damaging	Het
Slc34a1	T	C	13: 24,004,991 (GRCm39)	I412T	probably benign	Het
Smarca2	A	T	19: 26,748,438 (GRCm39)	I98L	probably benign	Het
Spag6l	T	C	16: 16,595,203 (GRCm39)	E394G	probably damaging	Het
Spdef	T	C	17: 27,939,269 (GRCm39)	T26A	probably benign	Het
Stk17b	T	C	1: 53,815,731 (GRCm39)	I23V	probably benign	Het
Sult2a7	A	G	7: 14,225,818 (GRCm39)	I56T	probably damaging	Het
Tango6	T	A	8: 107,415,926 (GRCm39)		probably null	Het
Tex46	T	C	4: 136,337,844 (GRCm39)	L12P	possibly damaging	Het
Ttn	T	A	2: 76,598,684 (GRCm39)	M19410L	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Unc5cl	T	A	17: 48,766,974 (GRCm39)	I116N	possibly damaging	Het
Unc80	A	T	1: 66,657,417 (GRCm39)	I1630F	possibly damaging	Het
Upb1	G	A	10: 75,272,051 (GRCm39)	R288H	probably damaging	Het
Wdr62	T	G	7: 29,967,328 (GRCm39)	I309L	probably damaging	Het
Whrn	C	T	4: 63,336,385 (GRCm39)	V295M	possibly damaging	Het
Wrn	G	A	8: 33,819,230 (GRCm39)	P241S	probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp687	A	T	3: 94,917,748 (GRCm39)	C675S	probably damaging	Het
Zfp954	A	G	7: 7,118,321 (GRCm39)	Y408H	possibly damaging	Het

Other mutations in Greb1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Greb1l	APN	18	10,555,962 (GRCm39)	missense	possibly damaging	0.90
IGL01554:Greb1l	APN	18	10,522,144 (GRCm39)	missense	probably benign	0.01
IGL01563:Greb1l	APN	18	10,469,399 (GRCm39)	missense	probably damaging	0.99
IGL01944:Greb1l	APN	18	10,557,280 (GRCm39)	missense	possibly damaging	0.91
IGL02110:Greb1l	APN	18	10,515,271 (GRCm39)	missense	probably damaging	1.00
IGL02249:Greb1l	APN	18	10,532,961 (GRCm39)	missense	probably damaging	1.00
IGL02318:Greb1l	APN	18	10,469,388 (GRCm39)	missense	possibly damaging	0.91
IGL02340:Greb1l	APN	18	10,515,200 (GRCm39)	missense	probably damaging	0.99
IGL02516:Greb1l	APN	18	10,537,064 (GRCm39)	missense	probably benign	0.31
IGL02566:Greb1l	APN	18	10,503,299 (GRCm39)	missense	probably damaging	0.99
IGL02583:Greb1l	APN	18	10,542,362 (GRCm39)	missense	probably damaging	1.00
IGL02838:Greb1l	APN	18	10,560,430 (GRCm39)	missense	probably damaging	1.00
A4554:Greb1l	UTSW	18	10,532,862 (GRCm39)	missense	possibly damaging	0.58
PIT4453001:Greb1l	UTSW	18	10,533,032 (GRCm39)	missense	probably benign	0.08
PIT4453001:Greb1l	UTSW	18	10,533,031 (GRCm39)	missense	probably damaging	0.98
R0099:Greb1l	UTSW	18	10,509,158 (GRCm39)	missense	probably damaging	1.00
R0226:Greb1l	UTSW	18	10,522,076 (GRCm39)	intron	probably benign
R0234:Greb1l	UTSW	18	10,560,331 (GRCm39)	missense	probably damaging	1.00
R0234:Greb1l	UTSW	18	10,560,331 (GRCm39)	missense	probably damaging	1.00
R0239:Greb1l	UTSW	18	10,458,567 (GRCm39)	splice site	probably benign
R0316:Greb1l	UTSW	18	10,547,420 (GRCm39)	missense	probably damaging	1.00
R0369:Greb1l	UTSW	18	10,469,375 (GRCm39)	missense	possibly damaging	0.80
R0394:Greb1l	UTSW	18	10,523,374 (GRCm39)	missense	probably damaging	0.99
R0478:Greb1l	UTSW	18	10,509,281 (GRCm39)	missense	probably damaging	1.00
R0555:Greb1l	UTSW	18	10,458,781 (GRCm39)	splice site	probably benign
R0671:Greb1l	UTSW	18	10,474,303 (GRCm39)	missense	probably damaging	1.00
R1282:Greb1l	UTSW	18	10,547,289 (GRCm39)	missense	probably benign	0.13
R1574:Greb1l	UTSW	18	10,554,997 (GRCm39)	missense	possibly damaging	0.95
R1574:Greb1l	UTSW	18	10,554,997 (GRCm39)	missense	possibly damaging	0.95
R1607:Greb1l	UTSW	18	10,529,703 (GRCm39)	missense	possibly damaging	0.85
R1666:Greb1l	UTSW	18	10,529,708 (GRCm39)	critical splice donor site	probably null
R1666:Greb1l	UTSW	18	10,501,080 (GRCm39)	critical splice donor site	probably null
R1720:Greb1l	UTSW	18	10,553,848 (GRCm39)	missense	probably benign	0.19
R1808:Greb1l	UTSW	18	10,542,143 (GRCm39)	missense	probably benign
R1829:Greb1l	UTSW	18	10,509,314 (GRCm39)	missense	probably damaging	1.00
R1897:Greb1l	UTSW	18	10,498,992 (GRCm39)	missense	probably benign	0.00
R1967:Greb1l	UTSW	18	10,501,049 (GRCm39)	missense	possibly damaging	0.91
R2025:Greb1l	UTSW	18	10,515,221 (GRCm39)	missense	possibly damaging	0.71
R2086:Greb1l	UTSW	18	10,523,281 (GRCm39)	missense	probably damaging	1.00
R2125:Greb1l	UTSW	18	10,511,422 (GRCm39)	missense	probably damaging	0.98
R2139:Greb1l	UTSW	18	10,555,011 (GRCm39)	missense	probably damaging	1.00
R2256:Greb1l	UTSW	18	10,503,307 (GRCm39)	missense	possibly damaging	0.91
R2257:Greb1l	UTSW	18	10,503,307 (GRCm39)	missense	possibly damaging	0.91
R2880:Greb1l	UTSW	18	10,547,288 (GRCm39)	missense	possibly damaging	0.93
R3623:Greb1l	UTSW	18	10,542,380 (GRCm39)	missense	probably damaging	0.99
R3778:Greb1l	UTSW	18	10,469,444 (GRCm39)	missense	possibly damaging	0.60
R3975:Greb1l	UTSW	18	10,522,247 (GRCm39)	missense	possibly damaging	0.71
R4038:Greb1l	UTSW	18	10,515,209 (GRCm39)	missense	possibly damaging	0.93
R4062:Greb1l	UTSW	18	10,522,150 (GRCm39)	missense	probably damaging	0.99
R4134:Greb1l	UTSW	18	10,529,708 (GRCm39)	critical splice donor site	probably null
R4342:Greb1l	UTSW	18	10,544,561 (GRCm39)	missense	probably benign	0.12
R4409:Greb1l	UTSW	18	10,503,182 (GRCm39)	missense	possibly damaging	0.70
R4600:Greb1l	UTSW	18	10,553,705 (GRCm39)	missense	probably damaging	1.00
R4618:Greb1l	UTSW	18	10,498,965 (GRCm39)	missense	probably benign	0.00
R4683:Greb1l	UTSW	18	10,529,563 (GRCm39)	splice site	probably null
R4686:Greb1l	UTSW	18	10,522,112 (GRCm39)	missense	probably damaging	0.98
R4707:Greb1l	UTSW	18	10,532,922 (GRCm39)	missense	probably benign	0.02
R4780:Greb1l	UTSW	18	10,541,792 (GRCm39)	missense	probably benign	0.00
R4819:Greb1l	UTSW	18	10,458,358 (GRCm39)	missense	probably damaging	1.00
R4925:Greb1l	UTSW	18	10,547,447 (GRCm39)	missense	possibly damaging	0.79
R4960:Greb1l	UTSW	18	10,547,306 (GRCm39)	missense	probably damaging	0.99
R5150:Greb1l	UTSW	18	10,555,950 (GRCm39)	frame shift	probably null
R5154:Greb1l	UTSW	18	10,458,312 (GRCm39)	missense	probably benign	0.02
R5269:Greb1l	UTSW	18	10,511,409 (GRCm39)	missense	probably benign
R5290:Greb1l	UTSW	18	10,542,427 (GRCm39)	missense	probably damaging	1.00
R5310:Greb1l	UTSW	18	10,542,427 (GRCm39)	missense	probably damaging	1.00
R5328:Greb1l	UTSW	18	10,553,720 (GRCm39)	missense	probably damaging	1.00
R5337:Greb1l	UTSW	18	10,509,143 (GRCm39)	missense	probably damaging	1.00
R5393:Greb1l	UTSW	18	10,458,312 (GRCm39)	missense	probably benign	0.02
R5402:Greb1l	UTSW	18	10,537,169 (GRCm39)	missense	probably benign	0.26
R5718:Greb1l	UTSW	18	10,542,427 (GRCm39)	missense	probably damaging	1.00
R5719:Greb1l	UTSW	18	10,542,427 (GRCm39)	missense	probably damaging	1.00
R5720:Greb1l	UTSW	18	10,542,427 (GRCm39)	missense	probably damaging	1.00
R5721:Greb1l	UTSW	18	10,542,427 (GRCm39)	missense	probably damaging	1.00
R5902:Greb1l	UTSW	18	10,538,302 (GRCm39)	missense	probably benign	0.00
R5993:Greb1l	UTSW	18	10,544,455 (GRCm39)	missense	probably benign	0.10
R6035:Greb1l	UTSW	18	10,501,025 (GRCm39)	missense	possibly damaging	0.91
R6035:Greb1l	UTSW	18	10,501,025 (GRCm39)	missense	possibly damaging	0.91
R6045:Greb1l	UTSW	18	10,547,068 (GRCm39)	missense	probably damaging	1.00
R6063:Greb1l	UTSW	18	10,557,340 (GRCm39)	missense	probably damaging	1.00
R6297:Greb1l	UTSW	18	10,469,494 (GRCm39)	missense	probably damaging	1.00
R6405:Greb1l	UTSW	18	10,501,076 (GRCm39)	missense	probably benign	0.30
R6552:Greb1l	UTSW	18	10,541,814 (GRCm39)	missense	probably benign	0.00
R6572:Greb1l	UTSW	18	10,522,131 (GRCm39)	missense	probably benign	0.07
R6575:Greb1l	UTSW	18	10,547,347 (GRCm39)	missense	possibly damaging	0.88
R6922:Greb1l	UTSW	18	10,547,482 (GRCm39)	missense	possibly damaging	0.88
R6957:Greb1l	UTSW	18	10,558,786 (GRCm39)	missense	probably benign	0.23
R6962:Greb1l	UTSW	18	10,547,327 (GRCm39)	missense	probably damaging	1.00
R7012:Greb1l	UTSW	18	10,529,707 (GRCm39)	critical splice donor site	probably null
R7179:Greb1l	UTSW	18	10,544,576 (GRCm39)	missense	probably benign	0.00
R7251:Greb1l	UTSW	18	10,515,319 (GRCm39)	missense	probably damaging	1.00
R7275:Greb1l	UTSW	18	10,544,561 (GRCm39)	missense	probably benign	0.12
R7301:Greb1l	UTSW	18	10,544,970 (GRCm39)	missense	probably damaging	1.00
R7307:Greb1l	UTSW	18	10,538,142 (GRCm39)	missense	probably damaging	0.99
R7455:Greb1l	UTSW	18	10,554,915 (GRCm39)	missense	probably damaging	1.00
R7832:Greb1l	UTSW	18	10,542,056 (GRCm39)	missense	probably benign	0.38
R7934:Greb1l	UTSW	18	10,474,371 (GRCm39)	nonsense	probably null
R8137:Greb1l	UTSW	18	10,474,357 (GRCm39)	missense	possibly damaging	0.77
R8138:Greb1l	UTSW	18	10,533,060 (GRCm39)	missense	probably benign	0.13
R8208:Greb1l	UTSW	18	10,510,703 (GRCm39)	missense	probably damaging	1.00
R8227:Greb1l	UTSW	18	10,515,371 (GRCm39)	missense	probably damaging	1.00
R8312:Greb1l	UTSW	18	10,511,587 (GRCm39)	intron	probably benign
R8331:Greb1l	UTSW	18	10,458,706 (GRCm39)	missense	possibly damaging	0.96
R8364:Greb1l	UTSW	18	10,529,687 (GRCm39)	missense	possibly damaging	0.85
R8389:Greb1l	UTSW	18	10,529,613 (GRCm39)	missense	probably benign	0.00
R8695:Greb1l	UTSW	18	10,544,450 (GRCm39)	missense	probably benign	0.01
R8795:Greb1l	UTSW	18	10,553,739 (GRCm39)	missense	probably damaging	0.98
R8836:Greb1l	UTSW	18	10,509,257 (GRCm39)	missense	probably benign	0.30
R8862:Greb1l	UTSW	18	10,555,042 (GRCm39)	missense	possibly damaging	0.90
R8872:Greb1l	UTSW	18	10,529,684 (GRCm39)	missense	probably benign	0.18
R8874:Greb1l	UTSW	18	10,544,896 (GRCm39)	missense	probably benign	0.01
R8886:Greb1l	UTSW	18	10,553,843 (GRCm39)	missense	probably benign	0.21
R8921:Greb1l	UTSW	18	10,541,825 (GRCm39)	missense	probably benign	0.01
R8997:Greb1l	UTSW	18	10,510,747 (GRCm39)	missense	probably damaging	1.00
R9015:Greb1l	UTSW	18	10,541,675 (GRCm39)	missense	probably benign	0.00
R9018:Greb1l	UTSW	18	10,542,004 (GRCm39)	missense	possibly damaging	0.76
R9074:Greb1l	UTSW	18	10,558,795 (GRCm39)	missense	probably damaging	1.00
R9074:Greb1l	UTSW	18	10,532,797 (GRCm39)	missense	probably damaging	1.00
R9117:Greb1l	UTSW	18	10,542,422 (GRCm39)	missense	probably benign	0.31
R9189:Greb1l	UTSW	18	10,499,983 (GRCm39)	missense	probably benign
R9332:Greb1l	UTSW	18	10,532,796 (GRCm39)	missense	possibly damaging	0.92
R9367:Greb1l	UTSW	18	10,522,130 (GRCm39)	missense	probably benign	0.00
R9497:Greb1l	UTSW	18	10,458,600 (GRCm39)	missense	probably benign	0.00
R9796:Greb1l	UTSW	18	10,538,233 (GRCm39)	missense	possibly damaging	0.69
Z1176:Greb1l	UTSW	18	10,515,305 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTGATAAGACCTACCACCAAAGG -3'
(R):5'- ATGACCTGCATCCATGAGC -3'

Sequencing Primer
(F):5'- GCCAGCTTCTCATGACAGTCAG -3'
(R):5'- ATGAGCCTGACCTACCTGTTGAAG -3'

Posted On

2014-10-16