Mutagenetix > Incidental Mutation

Incidental Mutation 'R1808:Greb1l'

203640

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

039837-MU

Accession Numbers

Genbank: NM_001083628; MGI: 3576497

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1808 (G1)

Quality Score

161

Status

Not validated

Chromosome

Chromosomal Location

10325177-10562934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10542143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1297 (A1297T)

Ref Sequence

ENSEMBL: ENSMUSP00000049003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048977] [ENSMUST00000172532] [ENSMUST00000172680]

AlphaFold

B9EJV3

Predicted Effect

probably benign
Transcript: ENSMUST00000048977
AA Change: A1297T

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

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: A1297T

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.9%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	G	T	5: 146,184,881 (GRCm38)	Y69*	probably null	Het
2310011J03Rik	A	G	10: 80,320,181 (GRCm38)		probably null	Het
A2ml1	A	C	6: 128,543,299 (GRCm38)	D1367E	probably damaging	Het
Adam6a	C	G	12: 113,544,714 (GRCm38)	L236V	probably benign	Het
Arf3	T	C	15: 98,741,073 (GRCm38)	N101S	probably benign	Het
Arhgap42	T	C	9: 9,180,050 (GRCm38)	E76G	probably damaging	Het
Atp2a1	A	G	7: 126,453,401 (GRCm38)	F382S	probably damaging	Het
Bud13	T	A	9: 46,288,407 (GRCm38)	F355L	probably benign	Het
C2	G	A	17: 34,864,532 (GRCm38)	P349S	probably damaging	Het
Cbl	C	A	9: 44,164,229 (GRCm38)	G373V	probably damaging	Het
Ccdc3	T	A	2: 5,138,085 (GRCm38)	L51Q	probably damaging	Het
Ccdc34	T	A	2: 110,044,256 (GRCm38)	M320K	probably benign	Het
Cntln	A	G	4: 85,096,763 (GRCm38)	E1097G	probably damaging	Het
Ctsc	A	C	7: 88,299,542 (GRCm38)	K195Q	possibly damaging	Het
Ctsf	C	T	19: 4,856,534 (GRCm38)	P163L	probably benign	Het
Dcxr	A	T	11: 120,725,612 (GRCm38)		probably null	Het
Dgki	T	C	6: 37,149,574 (GRCm38)	E157G	possibly damaging	Het
Dnah8	T	C	17: 30,684,186 (GRCm38)	L933P	probably damaging	Het
Dtna	T	C	18: 23,569,640 (GRCm38)	L76P	probably damaging	Het
Fcgbp	T	A	7: 28,085,090 (GRCm38)	C192S	probably benign	Het
Galnt5	T	A	2: 58,026,125 (GRCm38)	D683E	probably benign	Het
Grik4	T	C	9: 42,629,026 (GRCm38)	N286S	probably benign	Het
Hrc	A	T	7: 45,336,778 (GRCm38)	E451V	probably damaging	Het
Hrh3	G	A	2: 180,099,784 (GRCm38)		probably benign	Het
Ints13	A	G	6: 146,554,197 (GRCm38)	I152T	probably damaging	Het
Irgm1	A	T	11: 48,866,432 (GRCm38)	V184D	probably damaging	Het
Itga5	C	T	15: 103,350,399 (GRCm38)	A791T	probably damaging	Het
Kcp	T	C	6: 29,505,655 (GRCm38)	T73A	probably benign	Het
Kidins220	A	G	12: 25,003,009 (GRCm38)	T433A	probably benign	Het
Kirrel	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Kmt2d	T	C	15: 98,866,686 (GRCm38)	D12G	probably damaging	Het
Mms19	A	G	19: 41,966,259 (GRCm38)	S74P	probably damaging	Het
Myh1	G	T	11: 67,211,474 (GRCm38)	E864*	probably null	Het
Nek1	A	G	8: 61,016,230 (GRCm38)	D107G	probably damaging	Het
Npc1	T	C	18: 12,194,092 (GRCm38)	N1149D	probably damaging	Het
Olfr127	T	A	17: 37,903,770 (GRCm38)	S75T	probably damaging	Het
Olfr1280	T	C	2: 111,315,998 (GRCm38)	V173A	probably benign	Het
Olfr401	C	A	11: 74,121,431 (GRCm38)	S47R	probably damaging	Het
Olfr507	A	C	7: 108,622,610 (GRCm38)	K266T	possibly damaging	Het
Osbp	T	C	19: 11,970,778 (GRCm38)	S150P	probably damaging	Het
Paf1	T	C	7: 28,396,822 (GRCm38)	Y287H	probably damaging	Het
Pdgfrb	T	C	18: 61,068,102 (GRCm38)	V420A	probably benign	Het
Pdss1	G	T	2: 22,906,834 (GRCm38)	E120*	probably null	Het
Pink1	A	T	4: 138,317,319 (GRCm38)	V339E	probably damaging	Het
Pkn3	C	T	2: 30,079,651 (GRCm38)	R58C	probably damaging	Het
Pm20d1	G	A	1: 131,802,427 (GRCm38)	V235I	probably benign	Het
Ppp2r2a	A	G	14: 67,038,963 (GRCm38)	I31T	probably damaging	Het
Rbms3	T	C	9: 116,822,826 (GRCm38)	E152G	probably damaging	Het
Rfx1	A	C	8: 84,095,048 (GRCm38)	Q804H	probably damaging	Het
Rpe	G	T	1: 66,715,197 (GRCm38)	V143L	probably benign	Het
Sap30l	G	T	11: 57,809,945 (GRCm38)	V142L	probably benign	Het
Sh3tc1	T	C	5: 35,705,924 (GRCm38)	Q973R	probably benign	Het
Slc10a2	T	C	8: 5,104,856 (GRCm38)	T110A	probably damaging	Het
Snrnp200	A	T	2: 127,219,027 (GRCm38)		probably null	Het
Snrnp200	G	A	2: 127,219,028 (GRCm38)		probably null	Het
Spaca3	T	A	11: 80,867,685 (GRCm38)	V158E	probably damaging	Het
Sprtn	C	A	8: 124,903,031 (GRCm38)	N354K	probably benign	Het
Stab1	T	A	14: 31,141,144 (GRCm38)	Y2166F	possibly damaging	Het
Tmem106c	G	A	15: 97,968,667 (GRCm38)		probably null	Het
Tnc	A	G	4: 63,999,931 (GRCm38)	S1248P	probably damaging	Het
Tshr	T	C	12: 91,537,316 (GRCm38)	F343L	probably benign	Het
Ttn	C	A	2: 76,725,354 (GRCm38)	A30436S	probably damaging	Het
Ubxn2a	A	T	12: 4,885,839 (GRCm38)	M68K	probably benign	Het
Ucp2	T	C	7: 100,498,814 (GRCm38)	V238A	probably damaging	Het
Urgcp	C	A	11: 5,717,242 (GRCm38)	L365F	probably damaging	Het
Vezt	A	T	10: 93,990,164 (GRCm38)	D328E	probably damaging	Het
Vmn1r168	G	T	7: 23,540,759 (GRCm38)	V14L	probably benign	Het
Vps13b	T	C	15: 35,792,059 (GRCm38)	F2158L	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
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
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'- TCTTATCCAAAGCCGCATACAG -3'
(R):5'- CCTGATGCACATGTCATTGAGG -3'

Sequencing Primer
(F):5'- AGCCGCATACAGCCTGC -3'
(R):5'- CACATGTCATTGAGGAAGGAAAAAG -3'

Posted On

2014-06-23