Mutagenetix > Incidental Mutation

Incidental Mutation 'R7307:Greb1l'

567353

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

045366-MU

Accession Numbers

Genbank: NM_001083628; MGI: 3576497

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10325177-10562934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10538142 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1052 (Y1052H)

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: Y1052H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: Y1052H

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: Y943H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134090
Gene: ENSMUSG00000042942
AA Change: Y943H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

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

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 17,118,395 (GRCm38)	P155L	probably benign	Het
Adamts12	G	T	15: 11,217,813 (GRCm38)	L285F	probably damaging	Het
Ankrd6	A	T	4: 32,816,949 (GRCm38)	Y393N	possibly damaging	Het
Arhgap45	A	G	10: 80,029,182 (GRCm38)	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,347,120 (GRCm38)		probably null	Het
B4galnt3	T	C	6: 120,215,431 (GRCm38)	D448G	probably benign	Het
Capn1	C	G	19: 5,993,908 (GRCm38)	E564D	possibly damaging	Het
Ccdc85a	A	G	11: 28,399,384 (GRCm38)	S474P	probably benign	Het
Cdk12	T	A	11: 98,249,800 (GRCm38)	L1289*	probably null	Het
Cramp1l	A	T	17: 24,974,745 (GRCm38)	N920K	possibly damaging	Het
Cubn	C	T	2: 13,340,332 (GRCm38)	S2091N	probably damaging	Het
Ddx1	A	T	12: 13,223,959 (GRCm38)	I581N	probably damaging	Het
Dnm2	A	T	9: 21,485,687 (GRCm38)	N487Y	probably damaging	Het
Enc1	A	C	13: 97,245,093 (GRCm38)	N37T	probably damaging	Het
Ephb3	T	G	16: 21,222,226 (GRCm38)	I932S	probably benign	Het
Frk	T	A	10: 34,591,938 (GRCm38)	M316K	probably damaging	Het
Gdap2	C	T	3: 100,202,033 (GRCm38)	R25C	unknown	Het
Gm10436	A	C	12: 88,181,749 (GRCm38)	C32W	probably damaging	Het
Gpat2	T	A	2: 127,434,890 (GRCm38)	D671E	probably damaging	Het
Gpr179	C	T	11: 97,338,846 (GRCm38)	E828K	probably benign	Het
Gtf2f1	C	T	17: 57,007,833 (GRCm38)	S69N	probably damaging	Het
Hid1	A	C	11: 115,348,482 (GRCm38)	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,343,081 (GRCm38)	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,619,769 (GRCm38)	F120L	probably damaging	Het
Kif16b	C	T	2: 142,712,931 (GRCm38)	R649Q	probably benign	Het
Kif17	A	T	4: 138,262,643 (GRCm38)	E47D	probably benign	Het
Kmt2b	T	C	7: 30,580,471 (GRCm38)	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,849,418 (GRCm38)	S3342T	unknown	Het
Krt82	A	G	15: 101,542,907 (GRCm38)	C356R	probably damaging	Het
Lrit2	A	G	14: 37,072,199 (GRCm38)	K407E	probably benign	Het
Malt1	T	A	18: 65,451,569 (GRCm38)	H325Q	possibly damaging	Het
Mccc2	T	G	13: 99,988,600 (GRCm38)	D187A	possibly damaging	Het
Mgll	T	A	6: 88,814,121 (GRCm38)		probably null	Het
Mindy2	T	G	9: 70,610,959 (GRCm38)	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,842,294 (GRCm38)	V96M	unknown	Het
Nlrp4e	A	G	7: 23,321,528 (GRCm38)	E480G	probably benign	Het
Nup98	A	G	7: 102,134,795 (GRCm38)	I1093T	probably benign	Het
Olfr1288	A	T	2: 111,478,760 (GRCm38)		probably benign	Het
Olfr243	G	T	7: 103,716,966 (GRCm38)	R124L	probably damaging	Het
Olfr350	G	A	2: 36,850,125 (GRCm38)	M26I	probably benign	Het
Olfr541	G	A	7: 140,705,147 (GRCm38)	V299I	probably benign	Het
Pcdhb6	A	T	18: 37,335,478 (GRCm38)	H484L	probably benign	Het
Phldb1	T	C	9: 44,694,047 (GRCm38)	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 72,070,964 (GRCm38)	A275D	probably damaging	Het
Polr2a	A	T	11: 69,747,292 (GRCm38)		probably null	Het
Polr3a	A	G	14: 24,459,987 (GRCm38)	C960R	probably benign	Het
Pou6f2	G	A	13: 18,239,713 (GRCm38)	A159V		Het
Pramef6	A	C	4: 143,896,775 (GRCm38)	Y276*	probably null	Het
Psmc4	A	G	7: 28,042,660 (GRCm38)	V303A	probably benign	Het
Ptdss2	A	G	7: 141,151,732 (GRCm38)	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,589,008 (GRCm38)	Y1295*	probably null	Het
Rbm19	A	G	5: 120,186,218 (GRCm38)	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,021,102 (GRCm38)	Y183*	probably null	Het
Rnd1	T	C	15: 98,670,799 (GRCm38)	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,418,179 (GRCm38)	C282S	probably damaging	Het
S100b	G	A	10: 76,257,092 (GRCm38)	G20R	probably benign	Het
Sae1	G	T	7: 16,368,544 (GRCm38)	Y168*	probably null	Het
Samd9l	C	A	6: 3,372,600 (GRCm38)	G1554*	probably null	Het
Samhd1	T	C	2: 157,135,020 (GRCm38)	S55G	probably benign	Het
Sgsm1	T	C	5: 113,273,646 (GRCm38)	D525G	probably benign	Het
Slc28a3	A	T	13: 58,563,172 (GRCm38)	M512K	probably damaging	Het
Slc9b2	T	A	3: 135,318,390 (GRCm38)	N67K	probably benign	Het
Smarca4	T	A	9: 21,638,800 (GRCm38)	I402N	probably damaging	Het
St7l	T	C	3: 104,889,353 (GRCm38)	F261L	probably benign	Het
Syde2	T	A	3: 146,015,798 (GRCm38)	V1140D	probably damaging	Het
Syt6	T	A	3: 103,587,472 (GRCm38)	I251N	probably damaging	Het
Taok2	T	C	7: 126,866,818 (GRCm38)	E916G	probably damaging	Het
Tecta	A	G	9: 42,377,992 (GRCm38)	S426P	probably damaging	Het
Thra	T	C	11: 98,764,308 (GRCm38)	I338T	probably damaging	Het
Trub1	A	T	19: 57,472,703 (GRCm38)	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,545 (GRCm38)	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,183,500 (GRCm38)	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,330,541 (GRCm38)	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,313,250 (GRCm38)	Y100H	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
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
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'- TTATACTTCAGGGACACAGGGG -3'
(R):5'- AGCGCTACTGTTGCTCTGTG -3'

Sequencing Primer
(F):5'- CTTCAGGGACACAGGGGAAGTG -3'
(R):5'- GGCCTTTCCAAATCGATGAGCAG -3'

Posted On

2019-06-26