Mutagenetix > Incidental Mutation

Incidental Mutation 'R2086:Greb1l'

230047

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

040091-MU

Accession Numbers

Genbank: NM_001083628; MGI: 3576497

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2086 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

10325177-10562934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10523281 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 813 (V813A)

Ref Sequence

ENSEMBL: ENSMUSP00000049003 (fasta)

Gene Model

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

AlphaFold

B9EJV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000048977
AA Change: V813A

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

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: V813A

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: V704A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134090
Gene: ENSMUSG00000042942
AA Change: V704A

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

Meta Mutation Damage Score

0.1987

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (80/81)

Allele List at MGI

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

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 125,318,595 (GRCm38)	M53T	unknown	Het
Abcb11	T	A	2: 69,259,476 (GRCm38)		probably benign	Het
Acap2	C	G	16: 31,110,945 (GRCm38)	A432P	probably damaging	Het
Adamtsl1	A	G	4: 86,228,012 (GRCm38)	R302G	probably damaging	Het
Ap2b1	T	G	11: 83,351,118 (GRCm38)	S608A	possibly damaging	Het
Atp13a3	T	A	16: 30,352,298 (GRCm38)	T310S	possibly damaging	Het
Atp6v1b1	T	C	6: 83,757,852 (GRCm38)	V382A	probably benign	Het
Atp6v1g1	T	A	4: 63,550,067 (GRCm38)	F102L	probably benign	Het
B430306N03Rik	T	A	17: 48,316,782 (GRCm38)	V37D	probably damaging	Het
Cacna1d	T	C	14: 30,047,357 (GRCm38)	Y1872C	possibly damaging	Het
Carf	T	A	1: 60,109,411 (GRCm38)	Y54N	probably damaging	Het
Cct5	T	C	15: 31,594,203 (GRCm38)	E256G	probably damaging	Het
Cd5	A	G	19: 10,723,256 (GRCm38)	S295P	probably benign	Het
Cenpb	T	C	2: 131,178,597 (GRCm38)		probably benign	Het
Cntnap3	A	G	13: 64,794,262 (GRCm38)	M218T	possibly damaging	Het
Colec11	C	T	12: 28,594,787 (GRCm38)	R236H	probably damaging	Het
Crem	T	A	18: 3,288,098 (GRCm38)		probably benign	Het
Csnk2a1	A	G	2: 152,254,281 (GRCm38)	N58S	probably benign	Het
Cyp2a4	T	G	7: 26,312,308 (GRCm38)	M318R	probably damaging	Het
Dhrs1	T	A	14: 55,743,659 (GRCm38)	Q98L	probably null	Het
Dnah11	G	T	12: 118,113,871 (GRCm38)	Q1296K	possibly damaging	Het
Doxl2	A	G	6: 48,977,602 (GRCm38)	E558G	probably damaging	Het
Edc4	T	A	8: 105,888,002 (GRCm38)	D105E	probably damaging	Het
Eid2b	C	T	7: 28,277,773 (GRCm38)		probably benign	Het
Exoc1	A	T	5: 76,532,846 (GRCm38)	K28*	probably null	Het
Fam114a1	A	G	5: 64,980,059 (GRCm38)	D115G	probably benign	Het
Fam151a	A	T	4: 106,735,563 (GRCm38)		probably null	Het
Gc	T	C	5: 89,438,342 (GRCm38)	Y313C	probably damaging	Het
Gdpd1	A	G	11: 87,035,268 (GRCm38)	Y284H	probably benign	Het
Gm21957	T	A	7: 125,219,706 (GRCm38)		noncoding transcript	Het
Golm1	G	A	13: 59,645,185 (GRCm38)	Q169*	probably null	Het
Itih1	C	T	14: 30,937,843 (GRCm38)	A279T	probably damaging	Het
Kirrel	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Lama1	T	C	17: 67,817,623 (GRCm38)	C2893R	probably damaging	Het
Lama3	T	A	18: 12,524,830 (GRCm38)	N334K	probably benign	Het
Loxhd1	A	G	18: 77,384,946 (GRCm38)	D1053G	probably damaging	Het
Map3k20	A	G	2: 72,398,385 (GRCm38)	K316R	probably benign	Het
Mapre3	A	C	5: 30,863,202 (GRCm38)		probably null	Het
Mfsd7a	C	T	5: 108,445,621 (GRCm38)	R117H	probably damaging	Het
Mgam	T	A	6: 40,761,028 (GRCm38)		probably null	Het
Mical2	A	C	7: 112,318,603 (GRCm38)	H389P	probably benign	Het
Mtmr2	A	G	9: 13,799,952 (GRCm38)	D347G	probably damaging	Het
Nbeal2	G	A	9: 110,634,071 (GRCm38)	L1309F	probably benign	Het
Nid2	G	A	14: 19,778,043 (GRCm38)	G516S	probably benign	Het
Nodal	A	T	10: 61,423,298 (GRCm38)	E171D	possibly damaging	Het
Notch2	T	C	3: 98,102,367 (GRCm38)	S537P	probably damaging	Het
Obox6	A	G	7: 15,833,607 (GRCm38)	L305S	probably damaging	Het
Obscn	T	C	11: 59,078,256 (GRCm38)	D2715G	probably damaging	Het
Olfr154	A	C	2: 85,663,746 (GRCm38)	S229R	probably benign	Het
Olfr728	T	A	14: 50,140,123 (GRCm38)	N172I	probably damaging	Het
Pcca	T	C	14: 122,686,115 (GRCm38)	S404P	probably damaging	Het
Pcdh10	T	C	3: 45,380,471 (GRCm38)	S407P	probably damaging	Het
Plekha5	C	A	6: 140,570,318 (GRCm38)		probably null	Het
Ptdss1	A	G	13: 66,953,555 (GRCm38)	N72S	probably benign	Het
Ptprs	T	C	17: 56,454,984 (GRCm38)	I43V	probably null	Het
Pygm	G	A	19: 6,391,481 (GRCm38)		probably null	Het
Rab7	C	T	6: 88,012,318 (GRCm38)	V57I	probably benign	Het
Rasl10a	A	G	11: 5,059,431 (GRCm38)		probably null	Het
Rergl	T	C	6: 139,494,834 (GRCm38)	T106A	probably benign	Het
Rnf17	T	G	14: 56,483,380 (GRCm38)	V1023G	probably damaging	Het
Rnf25	T	A	1: 74,593,967 (GRCm38)	R409W	probably damaging	Het
Rps6ka1	T	C	4: 133,872,969 (GRCm38)	M1V	probably null	Het
Rps6ka5	T	C	12: 100,619,615 (GRCm38)	T140A	possibly damaging	Het
Sbno2	T	A	10: 80,057,856 (GRCm38)	I1204F	possibly damaging	Het
Serpina16	A	T	12: 103,675,262 (GRCm38)	I68N	probably damaging	Het
Slc35a5	A	G	16: 45,144,265 (GRCm38)	S202P	probably damaging	Het
Slc35g3	G	C	11: 69,760,946 (GRCm38)	S93W	probably damaging	Het
Smc1b	A	G	15: 85,121,851 (GRCm38)		probably benign	Het
Spag1	T	C	15: 36,227,141 (GRCm38)	L648P	probably damaging	Het
Tagap1	T	C	17: 6,956,703 (GRCm38)	D198G	probably benign	Het
Tedc2	T	C	17: 24,217,900 (GRCm38)	E287G	probably damaging	Het
Tjp1	C	A	7: 65,312,921 (GRCm38)	R1089S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 123,162,446 (GRCm38)		probably benign	Het
Ttc38	T	A	15: 85,838,727 (GRCm38)	D125E	probably benign	Het
Uggt1	C	T	1: 36,192,414 (GRCm38)	R490Q	probably null	Het
Uroc1	T	G	6: 90,344,114 (GRCm38)	L224R	probably damaging	Het
Vmn1r228	A	T	17: 20,777,193 (GRCm38)	I21N	possibly damaging	Het
Vmn2r102	T	G	17: 19,676,687 (GRCm38)	L99V	probably damaging	Het
Vps13c	C	T	9: 67,950,289 (GRCm38)	S2601F	probably benign	Het
Zfp462	T	C	4: 55,010,830 (GRCm38)	L932P	probably 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
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'- ACATTCTGACTGGATCTGTCCC -3'
(R):5'- TGCTGTGTTTTACCAGGCCATG -3'

Sequencing Primer
(F):5'- CCCTCTCAGATAAAATAAGTCTGGTG -3'
(R):5'- CATGGCCATGTTCAGTTCCTGG -3'

Posted On

2014-09-18