Mutagenetix > Incidental Mutation

Incidental Mutation 'R3623:Greb1l'

268759

Institutional Source

Beutler Lab

Gene Symbol

Greb1l

Ensembl Gene

ENSMUSG00000042942

Gene Name

growth regulation by estrogen in breast cancer-like

Synonyms

AK220484, mKIAA4095

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10325177-10562934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10542380 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1325 (I1325N)

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: I1325N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: I1325N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172532

SMART Domains

Protein: ENSMUSP00000134090
Gene: ENSMUSG00000042942

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

0.7808

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (69/69)

Allele List at MGI

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

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,130,348 (GRCm38)	T364A	probably benign	Het
Adpgk	G	A	9: 59,313,753 (GRCm38)	V281I	probably benign	Het
Akap9	C	A	5: 3,976,235 (GRCm38)	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,281,940 (GRCm38)	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,763,262 (GRCm38)	E104G	possibly damaging	Het
Bscl2	T	A	19: 8,841,150 (GRCm38)	C40S	probably benign	Het
Btaf1	A	G	19: 36,981,086 (GRCm38)	T668A	probably benign	Het
Camk2g	G	A	14: 20,755,707 (GRCm38)		probably benign	Het
Cd109	A	T	9: 78,667,357 (GRCm38)	D541V	probably damaging	Het
Cep135	G	A	5: 76,624,739 (GRCm38)	G657D	probably benign	Het
Coch	A	G	12: 51,602,826 (GRCm38)	I307V	probably benign	Het
D17H6S53E	A	G	17: 35,127,536 (GRCm38)	E141G	probably benign	Het
Ddias	T	C	7: 92,859,592 (GRCm38)	T372A	probably benign	Het
Dffb	T	C	4: 153,965,519 (GRCm38)	T296A	probably damaging	Het
Dock8	A	G	19: 25,079,877 (GRCm38)	Q216R	probably benign	Het
Ep400	T	C	5: 110,719,236 (GRCm38)	Y1014C	unknown	Het
Ephx1	A	G	1: 180,989,933 (GRCm38)	I391T	probably benign	Het
Fam208b	T	C	13: 3,595,556 (GRCm38)	T98A	probably benign	Het
Fcgbp	A	G	7: 28,101,276 (GRCm38)	Y1249C	probably damaging	Het
Gm38100	T	C	1: 175,920,631 (GRCm38)	C88R	possibly damaging	Het
Gm5592	T	C	7: 41,157,628 (GRCm38)		probably benign	Het
Gm7964	A	G	7: 83,756,421 (GRCm38)	N149S	probably benign	Het
H2-T3	T	C	17: 36,190,065 (GRCm38)	T20A	possibly damaging	Het
Htr1d	T	C	4: 136,443,504 (GRCm38)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,738 (GRCm38)	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,724,960 (GRCm38)	Q16L	probably benign	Het
Irs2	C	T	8: 11,007,643 (GRCm38)	G263D	probably damaging	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Kmt2a	A	G	9: 44,848,966 (GRCm38)	Y529H	probably damaging	Het
Mdfic	T	A	6: 15,770,320 (GRCm38)	N108K	probably damaging	Het
Met	A	T	6: 17,549,086 (GRCm38)	D979V	probably damaging	Het
Mettl21e	T	A	1: 44,206,697 (GRCm38)	I130F	probably damaging	Het
Mlh3	C	T	12: 85,268,395 (GRCm38)	C339Y	probably damaging	Het
Mog	T	C	17: 37,012,446 (GRCm38)	H200R	possibly damaging	Het
Msrb3	C	T	10: 120,784,198 (GRCm38)	R72H	probably damaging	Het
Mtmr11	A	G	3: 96,165,266 (GRCm38)	H324R	probably damaging	Het
Myh7	T	C	14: 54,973,381 (GRCm38)	E1693G	probably damaging	Het
Nadk2	T	A	15: 9,084,223 (GRCm38)	W139R	probably damaging	Het
Ndufa9	A	T	6: 126,844,399 (GRCm38)	M76K	possibly damaging	Het
Nr1i2	A	G	16: 38,265,907 (GRCm38)		probably benign	Het
Nsd3	A	G	8: 25,662,819 (GRCm38)	T392A	probably damaging	Het
Olfr305	A	G	7: 86,364,100 (GRCm38)	F79S	probably benign	Het
Olfr653	T	C	7: 104,579,942 (GRCm38)	S99P	probably damaging	Het
P2ry2	A	T	7: 100,998,499 (GRCm38)	S200T	probably benign	Het
Pcnt	T	A	10: 76,433,750 (GRCm38)	E228V	probably benign	Het
Phka2	T	A	X: 160,544,295 (GRCm38)	Y334*	probably null	Het
Pkhd1l1	A	T	15: 44,526,869 (GRCm38)	K1460N	probably damaging	Het
Rpl7a-ps3	G	A	15: 36,308,283 (GRCm38)		noncoding transcript	Het
Rspry1	A	G	8: 94,649,777 (GRCm38)	D309G	probably damaging	Het
Scap	A	G	9: 110,380,203 (GRCm38)	Y648C	probably damaging	Het
Sgcz	T	C	8: 37,953,047 (GRCm38)	E17G	probably damaging	Het
Slc17a5	A	T	9: 78,538,274 (GRCm38)	V433D	probably damaging	Het
Smad9	C	T	3: 54,789,284 (GRCm38)	R257W	probably damaging	Het
Srcap	T	C	7: 127,542,147 (GRCm38)	S1639P	probably damaging	Het
Strn3	T	C	12: 51,661,216 (GRCm38)	Y132C	possibly damaging	Het
Tas2r110	A	T	6: 132,868,470 (GRCm38)	M155L	probably benign	Het
Thbd	A	G	2: 148,406,973 (GRCm38)	V325A	probably damaging	Het
Trpd52l3	T	A	19: 30,003,933 (GRCm38)	C29*	probably null	Het
Trpm1	A	G	7: 64,244,853 (GRCm38)	Y951C	probably damaging	Het
Ube3a	T	A	7: 59,272,112 (GRCm38)	N77K	probably damaging	Het
Upp2	G	A	2: 58,790,116 (GRCm38)	R300Q	possibly damaging	Het
Usp35	T	C	7: 97,312,620 (GRCm38)	H533R	probably damaging	Het
Veph1	C	T	3: 66,215,437 (GRCm38)	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,435,452 (GRCm38)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,816,038 (GRCm38)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,975,907 (GRCm38)		probably null	Het
Vps37c	T	A	19: 10,706,205 (GRCm38)		probably null	Het
Zap70	C	T	1: 36,779,135 (GRCm38)	T301I	probably benign	Het
Zfp341	A	G	2: 154,624,881 (GRCm38)	K57E	probably damaging	Het
Zfp60	T	A	7: 27,749,328 (GRCm38)	F474I	probably benign	Het
Zfp786	T	C	6: 47,821,423 (GRCm38)	N194D	probably benign	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
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'- TACAGATAGTGCAGGGTGGACC -3'
(R):5'- TGAGAGCCACAGTTCAGTTG -3'

Sequencing Primer
(F):5'- CCTGTCTTGGCTGTAAGGGACATC -3'
(R):5'- GAGCCACAGTTCAGTTGGAATTAC -3'

Posted On

2015-02-19