Mutagenetix > Incidental Mutation

Incidental Mutation 'R1897:Greb1l'

212088

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

039917-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10325177-10562934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10498992 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 292 (S292P)

Ref Sequence

ENSEMBL: ENSMUSP00000049003 (fasta)

Gene Model

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

AlphaFold

B9EJV3

Predicted Effect

probably benign
Transcript: ENSMUST00000048977
AA Change: S292P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: S292P

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
AA Change: S292P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134090
Gene: ENSMUSG00000042942
AA Change: S292P

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

noncoding transcript
Transcript: ENSMUST00000173356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224958

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

99% (72/73)

Allele List at MGI

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

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	A	G	1: 155,558,818 (GRCm38)	S61G	probably damaging	Het
Acot12	A	G	13: 91,784,397 (GRCm38)	N504S	probably benign	Het
Adcy3	C	T	12: 4,173,450 (GRCm38)		probably benign	Het
Adcyap1r1	A	T	6: 55,479,194 (GRCm38)	H168L	probably damaging	Het
Adgrd1	A	G	5: 129,129,001 (GRCm38)	E213G	probably benign	Het
Aldh1l2	G	T	10: 83,502,525 (GRCm38)	T510K	probably damaging	Het
Apol7e	A	T	15: 77,717,894 (GRCm38)	M231L	probably benign	Het
Asb1	C	A	1: 91,546,925 (GRCm38)		probably null	Het
Atf7ip2	C	T	16: 10,211,084 (GRCm38)	P160L	probably damaging	Het
Atp8a1	A	G	5: 67,738,429 (GRCm38)	L554P	probably damaging	Het
Ccdc18	A	T	5: 108,196,042 (GRCm38)	M884L	probably benign	Het
Ccdc93	A	G	1: 121,491,212 (GRCm38)	I499V	probably benign	Het
Ccl20	A	G	1: 83,117,895 (GRCm38)	D60G	probably damaging	Het
Cdhr3	T	C	12: 33,045,193 (GRCm38)	T626A	possibly damaging	Het
Cep250	A	G	2: 155,976,095 (GRCm38)	E789G	probably damaging	Het
Cmpk2	T	C	12: 26,474,047 (GRCm38)	L281P	probably damaging	Het
Col6a6	A	T	9: 105,785,744 (GRCm38)	M198K	possibly damaging	Het
Crocc	G	A	4: 141,018,736 (GRCm38)	R1691C	probably damaging	Het
Csf1	C	T	3: 107,748,279 (GRCm38)	V90M	probably damaging	Het
Cul2	T	G	18: 3,414,164 (GRCm38)	M86R	probably benign	Het
Dbndd2	T	C	2: 164,488,664 (GRCm38)	F79S	probably damaging	Het
Dkk1	G	T	19: 30,549,278 (GRCm38)	N34K	possibly damaging	Het
Dnah6	T	A	6: 73,181,762 (GRCm38)	L619F	probably benign	Het
Eif2b5	T	C	16: 20,507,037 (GRCm38)	V588A	probably damaging	Het
Elf3	A	T	1: 135,257,137 (GRCm38)	Y104N	probably damaging	Het
Fahd2a	T	C	2: 127,436,610 (GRCm38)	D272G	probably damaging	Het
Fbxw15	A	T	9: 109,558,203 (GRCm38)	C188*	probably null	Het
Fbxw8	T	C	5: 118,128,876 (GRCm38)	Y174C	probably benign	Het
Gnl1	C	A	17: 35,988,692 (GRCm38)	P585Q	possibly damaging	Het
Gsk3b	G	A	16: 38,217,084 (GRCm38)		probably null	Het
Hcls1	C	T	16: 36,962,643 (GRCm38)	P452L	probably damaging	Het
Hdlbp	A	T	1: 93,422,285 (GRCm38)		probably benign	Het
Hecw1	A	G	13: 14,377,940 (GRCm38)	S25P	probably damaging	Het
Hells	T	C	19: 38,940,484 (GRCm38)	V100A	probably benign	Het
Isl1	C	T	13: 116,303,330 (GRCm38)	E161K	probably benign	Het
Klra9	G	T	6: 130,185,592 (GRCm38)	N160K	possibly damaging	Het
Lama4	T	C	10: 39,060,186 (GRCm38)	V619A	probably damaging	Het
Mpc1	G	A	17: 8,296,878 (GRCm38)	R134Q	possibly damaging	Het
Myo5c	A	T	9: 75,292,241 (GRCm38)	N1377I	probably benign	Het
Myrf	T	C	19: 10,218,232 (GRCm38)	I607V	probably benign	Het
Olfr123	T	G	17: 37,796,184 (GRCm38)	S247A	probably benign	Het
Olfr968	A	T	9: 39,772,065 (GRCm38)	I245K	probably damaging	Het
Pik3c2b	A	G	1: 133,066,916 (GRCm38)	D206G	possibly damaging	Het
Pipox	A	G	11: 77,882,742 (GRCm38)	Y228H	probably damaging	Het
Pitrm1	T	A	13: 6,560,095 (GRCm38)	V401D	possibly damaging	Het
Plod1	C	T	4: 147,926,200 (GRCm38)	E265K	probably damaging	Het
Ptpn21	A	T	12: 98,680,405 (GRCm38)		probably null	Het
Qars	C	T	9: 108,514,083 (GRCm38)	Q7*	probably null	Het
Rpap2	T	A	5: 107,633,095 (GRCm38)	V479E	possibly damaging	Het
Rsf1	G	A	7: 97,579,910 (GRCm38)		probably benign	Het
Rusc2	A	G	4: 43,421,749 (GRCm38)	Y723C	probably damaging	Het
Ryr2	A	T	13: 11,750,932 (GRCm38)	M1306K	probably benign	Het
Sesn3	A	C	9: 14,308,645 (GRCm38)	Y110S	probably damaging	Het
Sgce	C	T	6: 4,691,511 (GRCm38)	V319I	probably benign	Het
Slc15a5	G	T	6: 138,079,764 (GRCm38)	F51L	possibly damaging	Het
Slit2	T	A	5: 48,238,423 (GRCm38)	C723S	probably damaging	Het
Sncaip	A	G	18: 52,894,790 (GRCm38)		probably null	Het
Snx2	T	A	18: 53,197,878 (GRCm38)	D138E	probably damaging	Het
Spef2	A	T	15: 9,729,654 (GRCm38)	L126*	probably null	Het
Stam	T	C	2: 14,129,026 (GRCm38)	S195P	probably damaging	Het
Strn	T	C	17: 78,682,842 (GRCm38)	I82V	probably benign	Het
Synj2	T	A	17: 6,022,137 (GRCm38)	C202*	probably null	Het
Tecpr2	A	G	12: 110,933,247 (GRCm38)	D683G	probably benign	Het
Tfec	A	G	6: 16,835,308 (GRCm38)	V157A	probably damaging	Het
Tff1	T	G	17: 31,164,938 (GRCm38)	Q28P	probably benign	Het
Vmn2r86	A	G	10: 130,452,445 (GRCm38)	Y396H	probably damaging	Het
Vmn2r87	A	T	10: 130,471,960 (GRCm38)	M803K	probably damaging	Het
Vmn2r90	A	G	17: 17,733,304 (GRCm38)	K577E	probably damaging	Het
Vrk1	T	C	12: 106,036,540 (GRCm38)		probably benign	Het
Wdr20	A	G	12: 110,793,723 (GRCm38)	T348A	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
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
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'- CTGGTTTTATGCAACTAGGCTG -3'
(R):5'- CCGGGTTCATTGAGAGATTCTG -3'

Sequencing Primer
(F):5'- ATGCAACTAGGCTGTCCTATCTG -3'
(R):5'- CTGTTTCTAAGGATAATGTAGAGGGC -3'

Posted On

2014-06-30