Mutagenetix > Incidental Mutation

Incidental Mutation 'R5154:Greb1l'

396615

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

042736-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10325177-10562934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10458312 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 30 (T30A)

Ref Sequence

ENSEMBL: ENSMUSP00000134090 (fasta)

Gene Model

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

AlphaFold

B9EJV3

Predicted Effect

probably benign
Transcript: ENSMUST00000048977
AA Change: T30A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: T30A

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: T30A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000134090
Gene: ENSMUSG00000042942
AA Change: T30A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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
1700009N14Rik	A	C	4: 39,450,938 (GRCm38)	H48P	probably damaging	Het
Angptl7	C	T	4: 148,497,425 (GRCm38)	R168H	probably damaging	Het
Ankrd11	A	C	8: 122,893,139 (GRCm38)	F1325V	probably damaging	Het
Ankrd13c	A	G	3: 157,988,660 (GRCm38)	D266G	possibly damaging	Het
Apold1	A	T	6: 134,983,673 (GRCm38)	H30L	possibly damaging	Het
Arel1	A	G	12: 84,931,773 (GRCm38)	F362L	probably benign	Het
Arhgef4	T	A	1: 34,732,374 (GRCm38)	M1254K	probably benign	Het
Arid2	T	A	15: 96,401,985 (GRCm38)	V1793E	probably damaging	Het
Bcl7a	T	C	5: 123,369,359 (GRCm38)	S156P	probably damaging	Het
Cbr3	A	G	16: 93,685,139 (GRCm38)	I128V	probably benign	Het
Cct6b	G	A	11: 82,739,695 (GRCm38)	P299L	probably damaging	Het
Cd180	A	T	13: 102,705,774 (GRCm38)	N443Y	probably damaging	Het
Cd80	A	G	16: 38,473,980 (GRCm38)	K75R	probably benign	Het
Cdk1	A	T	10: 69,340,468 (GRCm38)		probably benign	Het
Cep192	T	A	18: 67,850,684 (GRCm38)	F1565I	probably damaging	Het
Chtf18	T	C	17: 25,723,720 (GRCm38)	T412A	probably damaging	Het
Cit	T	C	5: 115,988,405 (GRCm38)	L1590P	probably damaging	Het
Clcn2	T	A	16: 20,703,303 (GRCm38)	R845S	probably benign	Het
Cndp2	C	T	18: 84,668,602 (GRCm38)	V432I	probably benign	Het
Cnnm2	A	T	19: 46,763,132 (GRCm38)	R454W	probably benign	Het
Cpne8	T	G	15: 90,499,918 (GRCm38)	I480L	probably benign	Het
Cr2	A	G	1: 195,159,446 (GRCm38)	W400R	probably damaging	Het
Cul5	A	G	9: 53,625,867 (GRCm38)	L528P	probably damaging	Het
Dlgap5	C	T	14: 47,413,720 (GRCm38)	V119M	probably damaging	Het
Dnah12	T	C	14: 26,849,363 (GRCm38)	S190P	probably benign	Het
Dnah3	T	A	7: 119,952,419 (GRCm38)	K2881N	probably damaging	Het
Dnmt3a	A	T	12: 3,896,008 (GRCm38)	I288F	probably damaging	Het
Dse	T	A	10: 34,153,661 (GRCm38)	T478S	possibly damaging	Het
Edn1	C	T	13: 42,305,023 (GRCm38)	T104I	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767 (GRCm38)		probably null	Het
Eprs1	A	G	1: 185,413,465 (GRCm38)	H1157R	probably damaging	Het
Fam168b	G	A	1: 34,818,099 (GRCm38)	T179I	possibly damaging	Het
Fzd5	A	G	1: 64,735,972 (GRCm38)	V210A	probably benign	Het
Gm9742	T	C	13: 8,035,045 (GRCm38)		noncoding transcript	Het
Gpc1	G	A	1: 92,857,029 (GRCm38)	G308D	probably damaging	Het
Gpr141	C	T	13: 19,752,242 (GRCm38)	R121K	probably benign	Het
Grk3	A	T	5: 112,941,717 (GRCm38)	I281N	probably damaging	Het
Hnrnpdl	A	T	5: 100,036,512 (GRCm38)	Y289*	probably null	Het
Hsf2	T	G	10: 57,504,712 (GRCm38)	V214G	probably benign	Het
Igf2bp1	G	A	11: 95,963,547 (GRCm38)	Q563*	probably null	Het
Il31ra	T	A	13: 112,523,997 (GRCm38)	D605V	possibly damaging	Het
Insm2	G	A	12: 55,600,197 (GRCm38)	C242Y	probably damaging	Het
Ints3	C	T	3: 90,415,561 (GRCm38)	V121I	probably benign	Het
Kcnt2	A	T	1: 140,351,256 (GRCm38)	L48F	possibly damaging	Het
Kit	G	A	5: 75,640,540 (GRCm38)	V529M	probably damaging	Het
Mark2	G	A	19: 7,283,074 (GRCm38)	P13S	probably damaging	Het
Mthfsd	A	G	8: 121,098,740 (GRCm38)	V364A	probably damaging	Het
Mtmr11	C	G	3: 96,164,319 (GRCm38)	S185R	probably benign	Het
Myot	A	G	18: 44,354,214 (GRCm38)	I373V	probably benign	Het
N4bp3	A	T	11: 51,645,312 (GRCm38)	V231D	probably benign	Het
Or5t17	T	C	2: 87,002,038 (GRCm38)	V23A	probably benign	Het
Or8k39	A	T	2: 86,732,777 (GRCm38)	Y278*	probably null	Het
Pdcd6ip	A	G	9: 113,691,542 (GRCm38)	F125L	probably damaging	Het
Prpf39	A	T	12: 65,048,277 (GRCm38)	Q124L	probably benign	Het
Reln	A	T	5: 21,988,765 (GRCm38)	N1398K	probably damaging	Het
Rhod	A	T	19: 4,432,094 (GRCm38)	D97E	probably damaging	Het
Rxra	T	C	2: 27,757,868 (GRCm38)		probably null	Het
Slc1a3	T	C	15: 8,642,949 (GRCm38)	I349V	probably benign	Het
Slc37a2	A	T	9: 37,231,643 (GRCm38)	*502R	probably null	Het
Slc9b1	T	C	3: 135,373,179 (GRCm38)	I199T	probably damaging	Het
Spart	C	T	3: 55,117,329 (GRCm38)	P115L	probably damaging	Het
Tnpo1	A	T	13: 98,870,305 (GRCm38)	C205S	possibly damaging	Het
Tubb1	T	A	2: 174,456,864 (GRCm38)	I113N	probably benign	Het
Tyrp1	G	A	4: 80,850,717 (GRCm38)	V483I	probably benign	Het
Vwde	T	C	6: 13,215,758 (GRCm38)	S100G	probably benign	Het
Zfhx3	A	T	8: 108,800,575 (GRCm38)	I1035F	probably damaging	Het
Zfp618	G	T	4: 63,133,209 (GRCm38)	K742N	probably damaging	Het
Zfp873	T	C	10: 82,060,191 (GRCm38)	V252A	possibly 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
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'- TGTTCTACTGATCATGGGCAGG -3'
(R):5'- GGTTTGACATCTGTTTAAACGAGG -3'

Sequencing Primer
(F):5'- GTTTTCAGAAGAGGTCCAGATCCC -3'
(R):5'- CTGTTTAAACGAGGAAACCAATGC -3'

Posted On

2016-06-21