Mutagenetix > Incidental Mutation

Incidental Mutation 'R7301:Greb1l'

567018

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

045405-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7301 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10325177-10562940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 10544970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Glutamic Acid at position 1433 (Q1433E)

Ref Sequence

ENSEMBL: ENSMUSP00000049003 (fasta)

Gene Model

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

AlphaFold

B9EJV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000048977
AA Change: Q1433E

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

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: Q1433E

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: ENSMUST00000172680

SMART Domains

Protein: ENSMUSP00000134314
Gene: ENSMUSG00000042942

Domain	Start	End	E-Value	Type
low complexity region	116	129	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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
Acsm3	G	A	7: 119,376,308 (GRCm39)	S345N	possibly damaging	Het
Agk	A	T	6: 40,306,451 (GRCm39)	T7S	possibly damaging	Het
Ankrd26	T	C	6: 118,488,624 (GRCm39)	E1345G	possibly damaging	Het
Atp1a3	T	A	7: 24,689,940 (GRCm39)	Y493F	probably benign	Het
Atxn2l	G	T	7: 126,093,383 (GRCm39)	Y791*	probably null	Het
Cacng8	C	A	7: 3,463,937 (GRCm39)	T363K	probably benign	Het
Camkmt	A	G	17: 85,738,921 (GRCm39)	T216A	probably benign	Het
Cd2ap	G	A	17: 43,140,904 (GRCm39)	R212*	probably null	Het
Cnppd1	A	G	1: 75,113,068 (GRCm39)	L400P	probably damaging	Het
Csmd2	C	A	4: 128,422,055 (GRCm39)	D2797E		Het
Ddx24	A	G	12: 103,385,709 (GRCm39)	M298T	possibly damaging	Het
Dpyd	T	C	3: 118,692,933 (GRCm39)	V359A	possibly damaging	Het
Dscam	T	C	16: 96,857,732 (GRCm39)	T93A	probably benign	Het
Eif2b3	T	A	4: 116,910,019 (GRCm39)	S185T	probably benign	Het
Entpd2	T	A	2: 25,290,921 (GRCm39)	I475N	possibly damaging	Het
Ercc2	C	A	7: 19,128,060 (GRCm39)	Q715K	probably benign	Het
Fam186b	T	C	15: 99,176,629 (GRCm39)	R754G	probably benign	Het
Fcgbp	T	A	7: 27,792,861 (GRCm39)	V955E	possibly damaging	Het
Frrs1	T	C	3: 116,689,212 (GRCm39)	V361A	possibly damaging	Het
Gabrr2	T	A	4: 33,095,284 (GRCm39)	M391K	probably benign	Het
Gm3409	T	A	5: 146,476,357 (GRCm39)	D169E	probably benign	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Hal	T	C	10: 93,328,423 (GRCm39)	V233A	probably benign	Het
Ighv1-58	A	T	12: 115,275,915 (GRCm39)	N74K	probably benign	Het
Il12rb1	A	G	8: 71,266,343 (GRCm39)	I229M	possibly damaging	Het
Il17rd	T	C	14: 26,798,348 (GRCm39)	I56T	possibly damaging	Het
Itpr1	T	C	6: 108,518,985 (GRCm39)	V2708A	possibly damaging	Het
Klhl38	G	A	15: 58,186,376 (GRCm39)	R118W	probably damaging	Het
Lmf2	C	A	15: 89,239,733 (GRCm39)		probably benign	Het
Lrrc3b	T	C	14: 15,357,934 (GRCm38)	Y224C	probably damaging	Het
Med1	A	C	11: 98,043,634 (GRCm39)	F599C	probably benign	Het
Mrgprb4	A	G	7: 47,848,506 (GRCm39)	S141P	probably damaging	Het
Mst1r	G	T	9: 107,791,989 (GRCm39)	A842S	possibly damaging	Het
Myo3a	T	C	2: 22,436,504 (GRCm39)		probably null	Het
Nos1	A	T	5: 118,005,970 (GRCm39)	D230V	possibly damaging	Het
Nppb	T	C	4: 148,070,780 (GRCm39)	S52P	probably benign	Het
Nqo1	A	G	8: 108,119,280 (GRCm39)	I99T	probably damaging	Het
Or1j17	T	A	2: 36,578,023 (GRCm39)	M3K	probably benign	Het
Or6c2b	T	C	10: 128,947,568 (GRCm39)	H242R	probably damaging	Het
Pabir1	T	A	19: 24,454,488 (GRCm39)	H78L	probably benign	Het
Pabir1	T	A	19: 24,454,710 (GRCm39)	E4V	probably damaging	Het
Pcdha3	G	A	18: 37,079,977 (GRCm39)	E240K	possibly damaging	Het
Plpp7	T	G	2: 31,986,067 (GRCm39)	F82V	probably benign	Het
Podxl	G	T	6: 31,501,371 (GRCm39)	P395T	probably damaging	Het
Prr5l	T	A	2: 101,547,631 (GRCm39)	D298V	probably damaging	Het
Rad9b	A	G	5: 122,490,677 (GRCm39)	V13A	possibly damaging	Het
Rasl2-9	A	G	7: 5,128,739 (GRCm39)	W64R	probably damaging	Het
Rilp	G	T	11: 75,400,942 (GRCm39)		probably benign	Het
Ripor2	T	C	13: 24,908,984 (GRCm39)	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,812,016 (GRCm39)	Y338H	probably damaging	Het
Shisa5	G	T	9: 108,883,952 (GRCm39)		probably benign	Het
Slc27a4	C	T	2: 29,702,944 (GRCm39)	T591I	probably null	Het
Snx24	G	T	18: 53,473,244 (GRCm39)	V63F	probably damaging	Het
Spata31f1e	T	C	4: 42,792,923 (GRCm39)	N403S	possibly damaging	Het
Sptbn1	A	T	11: 30,067,798 (GRCm39)	Y1805*	probably null	Het
Svep1	G	A	4: 58,046,587 (GRCm39)	Q3515*	probably null	Het
Synpo2	A	C	3: 122,907,702 (GRCm39)	M538R	probably benign	Het
Tfap2a	T	C	13: 40,874,784 (GRCm39)	K276E	probably damaging	Het
Tmem158	C	A	9: 123,089,366 (GRCm39)	S82I	probably damaging	Het
Tmtc3	G	T	10: 100,283,336 (GRCm39)	H740N	not run	Het
Top3a	A	T	11: 60,638,974 (GRCm39)	F559I	probably damaging	Het
Tysnd1	C	A	10: 61,532,328 (GRCm39)	P327T	possibly damaging	Het
Ulk4	T	A	9: 120,974,125 (GRCm39)	D969V	probably benign	Het
Vcan	T	A	13: 89,853,385 (GRCm39)	Y525F	probably benign	Het
Vmn1r127	A	G	7: 21,052,978 (GRCm39)	F270S	probably benign	Het
Vmn1r204	G	A	13: 22,740,975 (GRCm39)	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,565,878 (GRCm39)	I64M	probably benign	Het
Zfp280b	C	G	10: 75,874,537 (GRCm39)	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,541,313 (GRCm39)	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,541,314 (GRCm39)	G143S	probably benign	Het
Zfyve26	A	T	12: 79,329,758 (GRCm39)	V476D	probably benign	Het
Zkscan6	A	T	11: 65,719,051 (GRCm39)	H357L	probably benign	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
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
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'- GCTTGCTAGGGCTCAAATTAC -3'
(R):5'- AGCCTGAACAGTGAGGTTCTG -3'

Sequencing Primer
(F):5'- GCTAGGGCTCAAATTACATAGTCC -3'
(R):5'- TTCTGTACCAGGAGAAAGATGG -3'

Posted On

2019-06-26