Mutagenetix > Incidental Mutation

Incidental Mutation 'R6045:Greb1l'

483818

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

044213-MU

Accession Numbers

Genbank: NM_001083628; MGI: 3576497

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6045 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10325177-10562934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10547068 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1465 (V1465D)

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: V1465D

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

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: V1465D

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

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,229,367 (GRCm38)	Y87C	probably benign	Het
5530401A14Rik	A	G	11: 81,893,868 (GRCm38)		probably benign	Het
5830473C10Rik	A	T	5: 90,584,989 (GRCm38)	Q553L	possibly damaging	Het
Adamts5	T	C	16: 85,899,300 (GRCm38)	D323G	probably damaging	Het
Bicc1	G	A	10: 70,957,081 (GRCm38)	R248*	probably null	Het
Bivm	T	G	1: 44,119,073 (GRCm38)		probably benign	Het
Ccdc8	A	C	7: 16,996,031 (GRCm38)	T482P	unknown	Het
Ccnb2	T	C	9: 70,419,093 (GRCm38)	I21V	probably benign	Het
Cfap73	A	T	5: 120,631,712 (GRCm38)	I82N	probably damaging	Het
Chd3	A	C	11: 69,352,118 (GRCm38)	F1426V	possibly damaging	Het
Clcn2	A	T	16: 20,711,688 (GRCm38)		probably null	Het
Col6a5	T	C	9: 105,925,918 (GRCm38)	N1283D	unknown	Het
Cyp39a1	G	T	17: 43,731,991 (GRCm38)	G411W	probably damaging	Het
D130052B06Rik	A	T	11: 33,624,008 (GRCm38)	I202L	unknown	Het
Dlgap1	T	C	17: 70,818,098 (GRCm38)	L948P	probably damaging	Het
Dnah3	C	T	7: 119,967,522 (GRCm38)	V2494M	probably damaging	Het
Dysf	T	A	6: 84,114,072 (GRCm38)	V1076D	probably damaging	Het
Eif2ak4	C	A	2: 118,388,815 (GRCm38)	S36*	probably null	Het
Elmod3	C	T	6: 72,568,868 (GRCm38)	R297H	probably benign	Het
Epas1	C	A	17: 86,809,399 (GRCm38)	R166S	probably damaging	Het
Erv3	A	G	2: 131,856,022 (GRCm38)	L139P	probably damaging	Het
Fryl	A	G	5: 73,118,551 (GRCm38)	V90A	probably damaging	Het
Fxr2	A	G	11: 69,651,051 (GRCm38)	R439G	possibly damaging	Het
Gabrd	A	T	4: 155,386,474 (GRCm38)	V259D	possibly damaging	Het
Galnt10	A	G	11: 57,783,793 (GRCm38)	Y536C	probably damaging	Het
Gbp10	A	T	5: 105,218,403 (GRCm38)	L545Q	probably damaging	Het
Gfpt1	A	T	6: 87,085,257 (GRCm38)	I517F	probably damaging	Het
Glb1	T	C	9: 114,437,942 (GRCm38)	Y225H	probably damaging	Het
Gm1110	C	T	9: 26,883,209 (GRCm38)		probably null	Het
Gm14851	A	T	8: 21,095,232 (GRCm38)	C65S	possibly damaging	Het
Gm36028	G	T	16: 37,856,022 (GRCm38)	Q128K	probably benign	Het
Gmps	C	T	3: 63,980,137 (GRCm38)	P10L	probably benign	Het
Helz2	A	G	2: 181,240,313 (GRCm38)	V229A	probably benign	Het
Hipk1	A	T	3: 103,746,902 (GRCm38)	L924Q	probably benign	Het
Ifngr1	T	G	10: 19,609,161 (GRCm38)	L303V	possibly damaging	Het
Kif22	T	C	7: 127,031,078 (GRCm38)	N429D	probably benign	Het
Ktn1	T	C	14: 47,676,796 (GRCm38)	Y401H	probably damaging	Het
Lars2	T	G	9: 123,371,988 (GRCm38)	I39S	probably damaging	Het
Lipf	C	T	19: 33,966,844 (GRCm38)	A151V	probably damaging	Het
Lrp1	A	T	10: 127,566,600 (GRCm38)	M2234K	probably damaging	Het
Lrp1b	A	G	2: 40,701,813 (GRCm38)	V56A	unknown	Het
Lyar	T	A	5: 38,234,008 (GRCm38)	H350Q	probably benign	Het
Mill2	A	T	7: 18,856,564 (GRCm38)	M190L	probably benign	Het
Morc3	A	G	16: 93,874,845 (GRCm38)	D921G	probably damaging	Het
Mpp2	G	T	11: 102,059,354 (GRCm38)	T558K	probably benign	Het
Myh4	A	G	11: 67,244,724 (GRCm38)	D379G	probably benign	Het
Neb	A	C	2: 52,194,425 (GRCm38)		probably null	Het
Nedd1	G	A	10: 92,695,100 (GRCm38)	R376*	probably null	Het
Nlrc4	T	G	17: 74,446,959 (GRCm38)	D143A	probably damaging	Het
Nol10	G	T	12: 17,348,478 (GRCm38)		probably benign	Het
Olfr1316	T	G	2: 112,130,536 (GRCm38)	I92L	possibly damaging	Het
Olfr1404	C	T	1: 173,216,500 (GRCm38)	T283I	possibly damaging	Het
Olfr1431	C	A	19: 12,210,295 (GRCm38)	A243D	probably damaging	Het
Olfr197	T	A	16: 59,186,091 (GRCm38)	T131S	probably benign	Het
Olfr652	C	T	7: 104,564,767 (GRCm38)	T182I	probably benign	Het
Opn1sw	A	G	6: 29,379,870 (GRCm38)	S122P	probably damaging	Het
Orm1	T	A	4: 63,344,692 (GRCm38)	I32N	possibly damaging	Het
Pcdhb5	T	A	18: 37,321,575 (GRCm38)	V336E	probably damaging	Het
Poli	C	T	18: 70,517,469 (GRCm38)	R363K	possibly damaging	Het
Rabgap1l	T	C	1: 160,645,323 (GRCm38)	E515G	probably benign	Het
Rem2	C	A	14: 54,477,768 (GRCm38)	T134N	probably damaging	Het
Rfc1	A	G	5: 65,279,549 (GRCm38)	I596T	probably damaging	Het
Ruvbl2	A	T	7: 45,425,009 (GRCm38)	I202N	probably damaging	Het
S100a6	T	A	3: 90,613,879 (GRCm38)	I38N	probably damaging	Het
Scel	T	C	14: 103,592,213 (GRCm38)	C435R	probably benign	Het
Slc6a13	T	A	6: 121,321,628 (GRCm38)	W146R	probably damaging	Het
Sorcs1	T	A	19: 50,190,117 (GRCm38)	K856*	probably null	Het
Speer4e	T	G	5: 14,937,181 (GRCm38)	K70T	possibly damaging	Het
Sucla2	T	A	14: 73,568,964 (GRCm38)	C158*	probably null	Het
Tie1	G	A	4: 118,484,691 (GRCm38)	S187L	probably benign	Het
Tmem200a	T	C	10: 25,993,007 (GRCm38)	T455A	probably damaging	Het
Tra2a	A	G	6: 49,252,464 (GRCm38)		probably benign	Het
Tsnaxip1	A	C	8: 105,844,187 (GRCm38)	E615A	probably benign	Het
Tuba3b	T	A	6: 145,621,174 (GRCm38)	N380K	probably damaging	Het
Umod	C	T	7: 119,476,823 (GRCm38)	S240N	probably benign	Het
Vmn2r92	G	A	17: 18,168,043 (GRCm38)		probably null	Het
Vps13b	A	G	15: 35,671,316 (GRCm38)	E1655G	probably damaging	Het
Vwde	A	T	6: 13,219,936 (GRCm38)	I72N	probably damaging	Het
Wbp11	G	A	6: 136,821,535 (GRCm38)	A172V	probably damaging	Het
Zbtb41	T	A	1: 139,424,032 (GRCm38)	N294K	probably benign	Het
Zfhx4	T	A	3: 5,396,959 (GRCm38)	H1206Q	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
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'- ATAGTTGGCTCCTGCACCAG -3'
(R):5'- AAACCCTTAGACGCTGGCAG -3'

Posted On

2017-07-14