Mutagenetix > Incidental Mutation

Incidental Mutation 'R1574:Greb1l'

171064

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

045014-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1574 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10325177-10562940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10554997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1681 (D1681G)

Ref Sequence

ENSEMBL: ENSMUSP00000049003 (fasta)

Gene Model

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

AlphaFold

B9EJV3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048977
AA Change: D1681G

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: D1681G

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: 98.3%
3x: 96.3%
10x: 84.0%
20x: 52.1%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	A	5: 81,935,296 (GRCm39)	N1276K	probably damaging	Het
Als2cl	A	G	9: 110,713,128 (GRCm39)	E6G	probably damaging	Het
Ankrd12	A	T	17: 66,293,269 (GRCm39)	D721E	probably benign	Het
Anpep	A	G	7: 79,488,155 (GRCm39)		probably null	Het
Apob	A	T	12: 8,040,839 (GRCm39)	I655L	possibly damaging	Het
Atp2b1	T	A	10: 98,832,810 (GRCm39)	L437Q	probably damaging	Het
Cacna2d3	T	A	14: 29,073,779 (GRCm39)	R222S	probably damaging	Het
Cenpf	C	T	1: 189,384,910 (GRCm39)	D2457N	probably damaging	Het
Cenpo	A	T	12: 4,265,433 (GRCm39)		probably null	Het
Ces2b	G	T	8: 105,562,521 (GRCm39)	A284S	probably benign	Het
Clock	T	C	5: 76,390,679 (GRCm39)	D311G	probably damaging	Het
Csmd3	T	C	15: 47,559,257 (GRCm39)		probably null	Het
D430041D05Rik	GTGATGATGATGATGATGATG	GTGATGATGATGATGATG	2: 104,051,553 (GRCm39)		probably benign	Het
Dbil5	A	G	11: 76,109,308 (GRCm39)	M71V	probably benign	Het
Ddhd1	A	C	14: 45,833,004 (GRCm39)	L864R	probably damaging	Het
Dnah11	A	G	12: 118,024,052 (GRCm39)	C1900R	probably damaging	Het
Dnah2	A	G	11: 69,405,514 (GRCm39)	V666A	probably benign	Het
Dnah5	T	A	15: 28,252,569 (GRCm39)	M754K	probably benign	Het
Dnajc15	A	T	14: 78,063,854 (GRCm39)	S145T	probably benign	Het
Drap1	A	G	19: 5,474,285 (GRCm39)	F25S	probably damaging	Het
Fam83e	G	A	7: 45,376,135 (GRCm39)	E283K	probably damaging	Het
Fbxo48	G	T	11: 16,903,368 (GRCm39)		probably benign	Het
Fndc3a	A	T	14: 72,793,997 (GRCm39)	I892N	probably damaging	Het
Gcn1	A	G	5: 115,753,611 (GRCm39)	T2321A	probably benign	Het
Hmcn2	A	C	2: 31,294,899 (GRCm39)	T2563P	probably damaging	Het
Iqcd	A	T	5: 120,738,300 (GRCm39)	K39N	probably damaging	Het
Kank2	A	G	9: 21,685,871 (GRCm39)	S668P	probably damaging	Het
Kcng1	T	A	2: 168,110,961 (GRCm39)	N68Y	probably damaging	Het
Kmt5b	T	A	19: 3,836,633 (GRCm39)		probably null	Het
Lama2	T	A	10: 27,200,750 (GRCm39)	I533F	possibly damaging	Het
Lcmt1	T	A	7: 123,002,131 (GRCm39)	I132N	probably damaging	Het
Mcph1	T	C	8: 18,851,428 (GRCm39)	I807T	probably damaging	Het
Mdn1	A	G	4: 32,722,315 (GRCm39)	I2366V	probably benign	Het
Moxd1	T	C	10: 24,176,217 (GRCm39)	W558R	probably damaging	Het
Mtus2	A	C	5: 148,013,362 (GRCm39)	K52Q	probably benign	Het
Myrf	T	C	19: 10,202,851 (GRCm39)	D141G	probably damaging	Het
Naca	G	T	10: 127,876,267 (GRCm39)		probably benign	Het
Ncoa7	T	C	10: 30,570,097 (GRCm39)	I249M	probably damaging	Het
Obox5	T	C	7: 15,492,558 (GRCm39)	V171A	probably damaging	Het
Or13e8	A	T	4: 43,697,134 (GRCm39)	V13D	possibly damaging	Het
Or13p3	T	A	4: 118,566,751 (GRCm39)	I49N	probably damaging	Het
Or2c1	T	C	16: 3,657,521 (GRCm39)	I228T	probably damaging	Het
Or5ak20	A	T	2: 85,184,243 (GRCm39)	V9E	probably damaging	Het
Or6c219	A	G	10: 129,781,379 (GRCm39)	L69P	probably damaging	Het
Or7a36	C	A	10: 78,819,820 (GRCm39)	N32K	probably damaging	Het
Parp4	A	G	14: 56,839,752 (GRCm39)	T487A	probably damaging	Het
Pclo	A	G	5: 14,729,845 (GRCm39)		probably benign	Het
Pcnx2	G	A	8: 126,500,669 (GRCm39)	R1474C	probably damaging	Het
Pkd1l3	A	G	8: 110,341,445 (GRCm39)	I99M	unknown	Het
Ruvbl1	T	C	6: 88,456,136 (GRCm39)	V70A	probably damaging	Het
Sart1	G	A	19: 5,430,287 (GRCm39)	P788L	probably damaging	Het
Sdk1	A	G	5: 141,984,634 (GRCm39)	T740A	probably benign	Het
Serpinb1c	T	C	13: 33,072,979 (GRCm39)	D61G	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Slc24a5	G	A	2: 124,922,782 (GRCm39)	G152S	probably damaging	Het
Slc6a4	A	T	11: 76,910,022 (GRCm39)	I426F	possibly damaging	Het
Srsf4	T	A	4: 131,625,006 (GRCm39)	D134E	probably damaging	Het
Stk33	C	T	7: 108,879,027 (GRCm39)	V441I	probably benign	Het
Sult1c2	A	G	17: 54,143,927 (GRCm39)		probably null	Het
Tdpoz4	T	A	3: 93,703,835 (GRCm39)	V44E	probably benign	Het
Tdrd6	G	A	17: 43,936,515 (GRCm39)	S1511L	probably damaging	Het
Tmprss13	C	A	9: 45,254,529 (GRCm39)	T432K	probably damaging	Het
Traf7	A	G	17: 24,729,527 (GRCm39)	L428P	probably damaging	Het
Tubb1	T	C	2: 174,299,215 (GRCm39)	I299T	probably benign	Het
Vmn1r158	A	T	7: 22,489,772 (GRCm39)	W146R	probably damaging	Het
Vmn1r42	A	G	6: 89,822,059 (GRCm39)	I170T	possibly damaging	Het
Vmn1r42	C	T	6: 89,822,363 (GRCm39)	G69S	probably damaging	Het
Vmn2r116	A	T	17: 23,606,063 (GRCm39)	H325L	probably damaging	Het
Zfp516	T	A	18: 83,011,300 (GRCm39)	L1111H	possibly damaging	Het
Zfp61	C	G	7: 23,990,635 (GRCm39)	K505N	probably damaging	Het
Zfp653	C	A	9: 21,969,274 (GRCm39)	E331*	probably null	Het
Zfp949	A	T	9: 88,451,830 (GRCm39)	K467*	probably null	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
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
R2255:Greb1l	UTSW	18	10,554,857 (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'- AGGCCAGCTTCTCATGACAGTCAG -3'
(R):5'- ATTAAAGGGGCCTGCCTTCTGC -3'

Sequencing Primer
(F):5'- TTTTATAGCCAGCCTACAGAAGCAG -3'
(R):5'- gccagcactcaataggatcac -3'

Posted On

2014-04-13