Mutagenetix > Incidental Mutation

Incidental Mutation 'R1720:Greb1l'

191421

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

039752-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10325177-10562934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 10553848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1616 (H1616Q)

Ref Sequence

ENSEMBL: ENSMUSP00000049003 (fasta)

Gene Model

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

AlphaFold

B9EJV3

Predicted Effect

probably benign
Transcript: ENSMUST00000048977
AA Change: H1616Q

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: H1616Q

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: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	G	12: 84,075,881 (GRCm38)	D413G	probably benign	Het
Actr5	G	T	2: 158,636,137 (GRCm38)	V476F	possibly damaging	Het
Adhfe1	G	A	1: 9,566,900 (GRCm38)	D426N	probably benign	Het
Adra1a	T	C	14: 66,638,278 (GRCm38)	L234P	probably damaging	Het
Akap9	G	T	5: 3,972,791 (GRCm38)	V1207L	possibly damaging	Het
Anapc2	A	G	2: 25,274,712 (GRCm38)	D36G	probably benign	Het
Apol8	A	G	15: 77,749,366 (GRCm38)	S337P	possibly damaging	Het
Asxl3	A	T	18: 22,452,435 (GRCm38)	D139V	probably damaging	Het
Atp13a4	A	T	16: 29,408,928 (GRCm38)	V1037E	probably damaging	Het
Baat	A	T	4: 49,490,231 (GRCm38)	F284L	probably benign	Het
Bltp3b	T	C	10: 89,782,586 (GRCm38)	V141A	probably damaging	Het
C1qtnf6	A	T	15: 78,527,440 (GRCm38)	F40Y	probably damaging	Het
Caskin2	G	A	11: 115,802,782 (GRCm38)	H508Y	probably damaging	Het
Cass4	A	T	2: 172,427,734 (GRCm38)	I579F	probably damaging	Het
Cdk15	A	G	1: 59,289,758 (GRCm38)	Y277C	probably damaging	Het
Cit	G	A	5: 115,967,897 (GRCm38)	D947N	probably damaging	Het
Clint1	T	A	11: 45,887,410 (GRCm38)	I126K	probably damaging	Het
Col6a4	C	T	9: 106,026,472 (GRCm38)	G1640E	probably damaging	Het
Ddx10	T	C	9: 53,238,071 (GRCm38)	K119E	probably damaging	Het
Dennd1a	G	A	2: 37,800,197 (GRCm38)	Q964*	probably null	Het
Dnhd1	T	C	7: 105,693,828 (GRCm38)	F1460L	probably benign	Het
Edc3	T	C	9: 57,748,179 (GRCm38)		probably null	Het
Edn1	A	G	13: 42,305,350 (GRCm38)	E163G	probably benign	Het
Efl1	A	T	7: 82,683,721 (GRCm38)	D317V	possibly damaging	Het
Elapor2	T	G	5: 9,428,407 (GRCm38)	C424G	probably damaging	Het
F2	A	T	2: 91,628,830 (GRCm38)	Y430*	probably null	Het
Faap100	C	T	11: 120,374,581 (GRCm38)	V490M	probably damaging	Het
Fuz	G	T	7: 44,896,991 (GRCm38)	G104W	probably damaging	Het
Grm1	G	T	10: 10,746,794 (GRCm38)		probably null	Het
Gucy2d	G	T	7: 98,477,230 (GRCm38)	A1098S	probably benign	Het
H1f0	T	A	15: 79,028,995 (GRCm38)	S92T	possibly damaging	Het
Hbb-bt	T	A	7: 103,813,876 (GRCm38)		probably benign	Het
Heg1	G	A	16: 33,707,179 (GRCm38)	A170T	probably benign	Het
Hspa4l	A	T	3: 40,781,617 (GRCm38)	K578*	probably null	Het
Ikbke	A	G	1: 131,259,210 (GRCm38)	S582P	possibly damaging	Het
Itga6	T	A	2: 71,820,166 (GRCm38)	F185L	probably damaging	Het
Itgal	T	A	7: 127,306,927 (GRCm38)	D396E	probably benign	Het
Kif5b	T	C	18: 6,213,427 (GRCm38)	H687R	probably benign	Het
Kmt2c	T	C	5: 25,299,184 (GRCm38)	N3709D	probably benign	Het
Lipf	A	T	19: 33,965,666 (GRCm38)	K125*	probably null	Het
Lrif1	A	T	3: 106,733,136 (GRCm38)	E512D	probably damaging	Het
Matn2	T	A	15: 34,345,274 (GRCm38)	Y142*	probably null	Het
Med13l	A	G	5: 118,741,995 (GRCm38)	T1051A	probably damaging	Het
Mpp3	T	A	11: 102,025,756 (GRCm38)	M1L	possibly damaging	Het
Mro	C	T	18: 73,876,735 (GRCm38)	S159L	probably benign	Het
Myh15	T	A	16: 49,092,782 (GRCm38)	D367E	probably damaging	Het
Myo1g	T	C	11: 6,512,490 (GRCm38)	Q547R	probably benign	Het
Neb	T	C	2: 52,207,721 (GRCm38)	I902M	probably benign	Het
Nsd1	G	A	13: 55,246,898 (GRCm38)	D771N	probably damaging	Het
Or10x4	A	G	1: 174,391,920 (GRCm38)	I284V	probably benign	Het
Or14a256	T	C	7: 86,616,456 (GRCm38)	N63S	probably damaging	Het
Or2a20	T	C	6: 43,217,560 (GRCm38)	S216P	probably damaging	Het
Or4e5	A	C	14: 52,490,594 (GRCm38)	Y40*	probably null	Het
Or8b48	C	T	9: 38,581,289 (GRCm38)	T4I	probably benign	Het
Penk	A	G	4: 4,134,240 (GRCm38)	Y136H	probably damaging	Het
Prdm6	C	T	18: 53,540,200 (GRCm38)	S144L	probably benign	Het
Ptprq	T	A	10: 107,686,294 (GRCm38)	I599F	probably damaging	Het
Racgap1	A	T	15: 99,628,769 (GRCm38)	C304*	probably null	Het
Rbp3	T	C	14: 33,956,909 (GRCm38)	V938A	probably benign	Het
Rpp30	A	G	19: 36,094,427 (GRCm38)	K132E	probably damaging	Het
Rxfp2	A	T	5: 150,043,099 (GRCm38)	R101*	probably null	Het
Ryr1	A	T	7: 29,101,870 (GRCm38)	V823E	probably damaging	Het
S100pbp	A	T	4: 129,182,093 (GRCm38)	D146E	probably damaging	Het
Sdr9c7	T	A	10: 127,902,258 (GRCm38)	V135E	probably damaging	Het
Serpinb12	A	G	1: 106,946,614 (GRCm38)	D23G	probably damaging	Het
Serpinf1	T	A	11: 75,413,981 (GRCm38)	T185S	probably null	Het
Slc23a1	A	C	18: 35,625,851 (GRCm38)	C96G	possibly damaging	Het
Slc5a4a	C	T	10: 76,189,269 (GRCm38)		probably null	Het
Spmap1	A	G	11: 97,771,609 (GRCm38)	F146L	probably damaging	Het
Suco	A	T	1: 161,834,054 (GRCm38)	L936Q	probably damaging	Het
Tmem144	T	C	3: 79,825,299 (GRCm38)	Y224C	probably damaging	Het
Tpm4	T	A	8: 72,144,754 (GRCm38)		probably null	Het
Ttn	T	C	2: 76,730,070 (GRCm38)	E29329G	probably damaging	Het
Txn1	T	C	4: 57,943,922 (GRCm38)	I101V	probably benign	Het
Ube2o	A	T	11: 116,544,607 (GRCm38)	C452S	probably benign	Het
Uxs1	A	T	1: 43,764,921 (GRCm38)	I278N	probably damaging	Het
Vps54	T	C	11: 21,306,519 (GRCm38)	F663L	probably damaging	Het
Wdfy3	CG	C	5: 101,926,525 (GRCm38)		probably null	Het
Zc3h11a	A	G	1: 133,621,701 (GRCm38)	S741P	probably damaging	Het
Zdbf2	G	A	1: 63,303,277 (GRCm38)	V272I	possibly damaging	Het
Zdhhc24	A	G	19: 4,878,951 (GRCm38)	N68S	probably damaging	Het
Znfx1	A	T	2: 167,044,066 (GRCm38)	L858*	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
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
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'- CCCCGTGTAAACAGTATGCCAGTG -3'
(R):5'- GCATCTGTAAGGAACCCCAGAAAGC -3'

Sequencing Primer
(F):5'- TATGCCAGTGGAAGTAATGTGAC -3'
(R):5'- gatctgatgccctctgctg -3'

Posted On

2014-05-14