Mutagenetix > Incidental Mutation

Incidental Mutation 'R5269:Greb1l'

400134

Institutional Source

Beutler Lab

Gene Symbol

Greb1l

Ensembl Gene

ENSMUSG00000042942

Gene Name

growth regulation by estrogen in breast cancer-like

Synonyms

mKIAA4095, AK220484

MMRRC Submission

042834-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5269 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10325177-10562940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10511409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 45 (D45N)

Ref Sequence

ENSEMBL: ENSMUSP00000134314 (fasta)

Gene Model

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

AlphaFold

B9EJV3

Predicted Effect

probably benign
Transcript: ENSMUST00000048977
AA Change: D644N

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

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: D644N

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: D535N

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

SMART Domains

Protein: ENSMUSP00000134090
Gene: ENSMUSG00000042942
AA Change: D535N

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
AA Change: D45N

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

SMART Domains

Protein: ENSMUSP00000134314
Gene: ENSMUSG00000042942
AA Change: D45N

Domain	Start	End	E-Value	Type
low complexity region	116	129	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174553

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (71/71)

Allele List at MGI

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

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,595,717 (GRCm39)	S357P	possibly damaging	Het
Adam39	A	G	8: 41,279,018 (GRCm39)	I470V	probably benign	Het
Agrn	A	T	4: 156,253,447 (GRCm39)	C1708S	probably benign	Het
Agtpbp1	A	G	13: 59,621,557 (GRCm39)	I42T	probably damaging	Het
Akap6	T	C	12: 53,186,626 (GRCm39)	C1347R	probably damaging	Het
Antxr1	A	G	6: 87,157,165 (GRCm39)	L452P	probably damaging	Het
Arhgef33	T	A	17: 80,677,704 (GRCm39)	V417D	probably damaging	Het
Brca2	A	G	5: 150,462,688 (GRCm39)	I817M	possibly damaging	Het
Casp4	A	T	9: 5,321,521 (GRCm39)		probably benign	Het
Cdh20	T	C	1: 104,861,882 (GRCm39)	Y21H	possibly damaging	Het
Cdr2	C	T	7: 120,557,557 (GRCm39)	V323M	possibly damaging	Het
Cebpa	G	A	7: 34,819,283 (GRCm39)	R147H	probably benign	Het
Cetn4	C	A	3: 37,364,118 (GRCm39)	E31*	probably null	Het
Cobll1	G	A	2: 64,964,115 (GRCm39)	Q189*	probably null	Het
Colec12	A	G	18: 9,846,825 (GRCm39)	T74A	possibly damaging	Het
Crisp4	A	G	1: 18,198,934 (GRCm39)	S124P	probably damaging	Het
Eddm3b	T	A	14: 51,354,178 (GRCm39)	D55E	probably damaging	Het
Elmo1	C	A	13: 20,633,656 (GRCm39)	N439K	probably benign	Het
Fabp12	T	C	3: 10,315,167 (GRCm39)	N60S	probably benign	Het
Fat2	T	A	11: 55,178,704 (GRCm39)	H1452L	probably benign	Het
Flacc1	A	G	1: 58,730,919 (GRCm39)	S46P	possibly damaging	Het
Flrt2	T	C	12: 95,746,712 (GRCm39)	V350A	possibly damaging	Het
Ganab	T	C	19: 8,889,301 (GRCm39)	F626S	probably damaging	Het
Ghr	T	C	15: 3,349,561 (GRCm39)	Y539C	probably benign	Het
Gm6871	T	C	7: 41,197,525 (GRCm39)	T112A	probably damaging	Het
Gm7133	T	A	1: 97,110,848 (GRCm39)		noncoding transcript	Het
Gon4l	A	C	3: 88,802,835 (GRCm39)	I1149L	probably benign	Het
H2-K2	A	G	17: 34,215,989 (GRCm39)		probably benign	Het
Herc2	C	T	7: 55,818,618 (GRCm39)	R2770*	probably null	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Itsn2	A	G	12: 4,683,553 (GRCm39)		probably benign	Het
Klb	A	G	5: 65,506,140 (GRCm39)	D129G	probably damaging	Het
Klf1	A	G	8: 85,629,969 (GRCm39)	I265V	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Map3k10	T	C	7: 27,357,957 (GRCm39)	E607G	probably benign	Het
Melk	C	T	4: 44,363,730 (GRCm39)	T592M	probably damaging	Het
Mroh6	A	G	15: 75,757,639 (GRCm39)	L457P	probably damaging	Het
Mrpl21	T	A	19: 3,337,012 (GRCm39)	C128S	probably damaging	Het
Or51f23	T	C	7: 102,453,327 (GRCm39)	V214A	probably benign	Het
Paqr4	G	T	17: 23,957,187 (GRCm39)	H105Q	probably damaging	Het
Pcdhga10	A	G	18: 37,881,747 (GRCm39)	I503V	probably benign	Het
Pds5a	T	C	5: 65,821,271 (GRCm39)	N151S	probably damaging	Het
Pif1	A	G	9: 65,499,111 (GRCm39)	T444A	possibly damaging	Het
Ppp2r3d	T	C	9: 101,031,064 (GRCm39)	R851G	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Ros1	T	G	10: 51,927,104 (GRCm39)	Q2172P	probably damaging	Het
Rpe65	A	G	3: 159,309,984 (GRCm39)	T86A	probably benign	Het
Rpl18a	G	A	8: 71,348,932 (GRCm39)	R15C	possibly damaging	Het
Sh3tc2	A	G	18: 62,108,684 (GRCm39)	K258R	probably benign	Het
Ska3	T	A	14: 58,059,573 (GRCm39)	E84V	possibly damaging	Het
Slc25a40	T	A	5: 8,497,409 (GRCm39)		probably null	Het
Slf1	A	T	13: 77,252,700 (GRCm39)	S274T	probably benign	Het
Spata21	A	T	4: 140,830,332 (GRCm39)	Q267H	probably damaging	Het
Strbp	A	T	2: 37,517,455 (GRCm39)	W207R	possibly damaging	Het
Taf6l	T	C	19: 8,752,326 (GRCm39)	E454G	probably damaging	Het
Tcam1	C	A	11: 106,176,353 (GRCm39)	L360I	probably benign	Het
Tnxb	G	A	17: 34,922,582 (GRCm39)	R2465H	possibly damaging	Het
Trim66	T	A	7: 109,056,797 (GRCm39)	Y1120F	probably benign	Het
Trp53	T	A	11: 69,480,031 (GRCm39)	M243K	probably damaging	Het
Ttl	T	A	2: 128,910,831 (GRCm39)	C72S	probably damaging	Het
Ttn	A	G	2: 76,539,240 (GRCm39)	V34582A	probably benign	Het
Uqcrh	T	C	4: 115,927,101 (GRCm39)	T31A	possibly damaging	Het
Usp40	A	G	1: 87,923,504 (GRCm39)	C256R	probably benign	Het
Vmn1r168	A	G	7: 23,240,839 (GRCm39)	E232G	probably benign	Het
Wdr72	A	T	9: 74,064,653 (GRCm39)	I562F	probably damaging	Het
Wnt4	A	G	4: 137,005,061 (GRCm39)	N24S	probably benign	Het

Other mutations in Greb1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Greb1l	APN	18	10,555,962 (GRCm39)	missense	possibly damaging	0.90
IGL01554:Greb1l	APN	18	10,522,144 (GRCm39)	missense	probably benign	0.01
IGL01563:Greb1l	APN	18	10,469,399 (GRCm39)	missense	probably damaging	0.99
IGL01944:Greb1l	APN	18	10,557,280 (GRCm39)	missense	possibly damaging	0.91
IGL02110:Greb1l	APN	18	10,515,271 (GRCm39)	missense	probably damaging	1.00
IGL02249:Greb1l	APN	18	10,532,961 (GRCm39)	missense	probably damaging	1.00
IGL02318:Greb1l	APN	18	10,469,388 (GRCm39)	missense	possibly damaging	0.91
IGL02340:Greb1l	APN	18	10,515,200 (GRCm39)	missense	probably damaging	0.99
IGL02516:Greb1l	APN	18	10,537,064 (GRCm39)	missense	probably benign	0.31
IGL02566:Greb1l	APN	18	10,503,299 (GRCm39)	missense	probably damaging	0.99
IGL02583:Greb1l	APN	18	10,542,362 (GRCm39)	missense	probably damaging	1.00
IGL02838:Greb1l	APN	18	10,560,430 (GRCm39)	missense	probably damaging	1.00
A4554:Greb1l	UTSW	18	10,532,862 (GRCm39)	missense	possibly damaging	0.58
PIT4453001:Greb1l	UTSW	18	10,533,032 (GRCm39)	missense	probably benign	0.08
PIT4453001:Greb1l	UTSW	18	10,533,031 (GRCm39)	missense	probably damaging	0.98
R0099:Greb1l	UTSW	18	10,509,158 (GRCm39)	missense	probably damaging	1.00
R0226:Greb1l	UTSW	18	10,522,076 (GRCm39)	intron	probably benign
R0234:Greb1l	UTSW	18	10,560,331 (GRCm39)	missense	probably damaging	1.00
R0234:Greb1l	UTSW	18	10,560,331 (GRCm39)	missense	probably damaging	1.00
R0239:Greb1l	UTSW	18	10,458,567 (GRCm39)	splice site	probably benign
R0316:Greb1l	UTSW	18	10,547,420 (GRCm39)	missense	probably damaging	1.00
R0369:Greb1l	UTSW	18	10,469,375 (GRCm39)	missense	possibly damaging	0.80
R0394:Greb1l	UTSW	18	10,523,374 (GRCm39)	missense	probably damaging	0.99
R0478:Greb1l	UTSW	18	10,509,281 (GRCm39)	missense	probably damaging	1.00
R0555:Greb1l	UTSW	18	10,458,781 (GRCm39)	splice site	probably benign
R0671:Greb1l	UTSW	18	10,474,303 (GRCm39)	missense	probably damaging	1.00
R1282:Greb1l	UTSW	18	10,547,289 (GRCm39)	missense	probably benign	0.13
R1574:Greb1l	UTSW	18	10,554,997 (GRCm39)	missense	possibly damaging	0.95
R1574:Greb1l	UTSW	18	10,554,997 (GRCm39)	missense	possibly damaging	0.95
R1607:Greb1l	UTSW	18	10,529,703 (GRCm39)	missense	possibly damaging	0.85
R1666:Greb1l	UTSW	18	10,529,708 (GRCm39)	critical splice donor site	probably null
R1666:Greb1l	UTSW	18	10,501,080 (GRCm39)	critical splice donor site	probably null
R1720:Greb1l	UTSW	18	10,553,848 (GRCm39)	missense	probably benign	0.19
R1808:Greb1l	UTSW	18	10,542,143 (GRCm39)	missense	probably benign
R1829:Greb1l	UTSW	18	10,509,314 (GRCm39)	missense	probably damaging	1.00
R1897:Greb1l	UTSW	18	10,498,992 (GRCm39)	missense	probably benign	0.00
R1967:Greb1l	UTSW	18	10,501,049 (GRCm39)	missense	possibly damaging	0.91
R2025:Greb1l	UTSW	18	10,515,221 (GRCm39)	missense	possibly damaging	0.71
R2086:Greb1l	UTSW	18	10,523,281 (GRCm39)	missense	probably damaging	1.00
R2125:Greb1l	UTSW	18	10,511,422 (GRCm39)	missense	probably damaging	0.98
R2139:Greb1l	UTSW	18	10,555,011 (GRCm39)	missense	probably damaging	1.00
R2255:Greb1l	UTSW	18	10,554,857 (GRCm39)	missense	probably damaging	1.00
R2256:Greb1l	UTSW	18	10,503,307 (GRCm39)	missense	possibly damaging	0.91
R2257:Greb1l	UTSW	18	10,503,307 (GRCm39)	missense	possibly damaging	0.91
R2880:Greb1l	UTSW	18	10,547,288 (GRCm39)	missense	possibly damaging	0.93
R3623:Greb1l	UTSW	18	10,542,380 (GRCm39)	missense	probably damaging	0.99
R3778:Greb1l	UTSW	18	10,469,444 (GRCm39)	missense	possibly damaging	0.60
R3975:Greb1l	UTSW	18	10,522,247 (GRCm39)	missense	possibly damaging	0.71
R4038:Greb1l	UTSW	18	10,515,209 (GRCm39)	missense	possibly damaging	0.93
R4062:Greb1l	UTSW	18	10,522,150 (GRCm39)	missense	probably damaging	0.99
R4134:Greb1l	UTSW	18	10,529,708 (GRCm39)	critical splice donor site	probably null
R4342:Greb1l	UTSW	18	10,544,561 (GRCm39)	missense	probably benign	0.12
R4409:Greb1l	UTSW	18	10,503,182 (GRCm39)	missense	possibly damaging	0.70
R4600:Greb1l	UTSW	18	10,553,705 (GRCm39)	missense	probably damaging	1.00
R4618:Greb1l	UTSW	18	10,498,965 (GRCm39)	missense	probably benign	0.00
R4683:Greb1l	UTSW	18	10,529,563 (GRCm39)	splice site	probably null
R4686:Greb1l	UTSW	18	10,522,112 (GRCm39)	missense	probably damaging	0.98
R4707:Greb1l	UTSW	18	10,532,922 (GRCm39)	missense	probably benign	0.02
R4780:Greb1l	UTSW	18	10,541,792 (GRCm39)	missense	probably benign	0.00
R4819:Greb1l	UTSW	18	10,458,358 (GRCm39)	missense	probably damaging	1.00
R4925:Greb1l	UTSW	18	10,547,447 (GRCm39)	missense	possibly damaging	0.79
R4960:Greb1l	UTSW	18	10,547,306 (GRCm39)	missense	probably damaging	0.99
R5150:Greb1l	UTSW	18	10,555,950 (GRCm39)	frame shift	probably null
R5154:Greb1l	UTSW	18	10,458,312 (GRCm39)	missense	probably benign	0.02
R5290:Greb1l	UTSW	18	10,542,427 (GRCm39)	missense	probably damaging	1.00
R5310:Greb1l	UTSW	18	10,542,427 (GRCm39)	missense	probably damaging	1.00
R5328:Greb1l	UTSW	18	10,553,720 (GRCm39)	missense	probably damaging	1.00
R5337:Greb1l	UTSW	18	10,509,143 (GRCm39)	missense	probably damaging	1.00
R5393:Greb1l	UTSW	18	10,458,312 (GRCm39)	missense	probably benign	0.02
R5402:Greb1l	UTSW	18	10,537,169 (GRCm39)	missense	probably benign	0.26
R5718:Greb1l	UTSW	18	10,542,427 (GRCm39)	missense	probably damaging	1.00
R5719:Greb1l	UTSW	18	10,542,427 (GRCm39)	missense	probably damaging	1.00
R5720:Greb1l	UTSW	18	10,542,427 (GRCm39)	missense	probably damaging	1.00
R5721:Greb1l	UTSW	18	10,542,427 (GRCm39)	missense	probably damaging	1.00
R5902:Greb1l	UTSW	18	10,538,302 (GRCm39)	missense	probably benign	0.00
R5993:Greb1l	UTSW	18	10,544,455 (GRCm39)	missense	probably benign	0.10
R6035:Greb1l	UTSW	18	10,501,025 (GRCm39)	missense	possibly damaging	0.91
R6035:Greb1l	UTSW	18	10,501,025 (GRCm39)	missense	possibly damaging	0.91
R6045:Greb1l	UTSW	18	10,547,068 (GRCm39)	missense	probably damaging	1.00
R6063:Greb1l	UTSW	18	10,557,340 (GRCm39)	missense	probably damaging	1.00
R6297:Greb1l	UTSW	18	10,469,494 (GRCm39)	missense	probably damaging	1.00
R6405:Greb1l	UTSW	18	10,501,076 (GRCm39)	missense	probably benign	0.30
R6552:Greb1l	UTSW	18	10,541,814 (GRCm39)	missense	probably benign	0.00
R6572:Greb1l	UTSW	18	10,522,131 (GRCm39)	missense	probably benign	0.07
R6575:Greb1l	UTSW	18	10,547,347 (GRCm39)	missense	possibly damaging	0.88
R6922:Greb1l	UTSW	18	10,547,482 (GRCm39)	missense	possibly damaging	0.88
R6957:Greb1l	UTSW	18	10,558,786 (GRCm39)	missense	probably benign	0.23
R6962:Greb1l	UTSW	18	10,547,327 (GRCm39)	missense	probably damaging	1.00
R7012:Greb1l	UTSW	18	10,529,707 (GRCm39)	critical splice donor site	probably null
R7179:Greb1l	UTSW	18	10,544,576 (GRCm39)	missense	probably benign	0.00
R7251:Greb1l	UTSW	18	10,515,319 (GRCm39)	missense	probably damaging	1.00
R7275:Greb1l	UTSW	18	10,544,561 (GRCm39)	missense	probably benign	0.12
R7301:Greb1l	UTSW	18	10,544,970 (GRCm39)	missense	probably damaging	1.00
R7307:Greb1l	UTSW	18	10,538,142 (GRCm39)	missense	probably damaging	0.99
R7455:Greb1l	UTSW	18	10,554,915 (GRCm39)	missense	probably damaging	1.00
R7832:Greb1l	UTSW	18	10,542,056 (GRCm39)	missense	probably benign	0.38
R7934:Greb1l	UTSW	18	10,474,371 (GRCm39)	nonsense	probably null
R8137:Greb1l	UTSW	18	10,474,357 (GRCm39)	missense	possibly damaging	0.77
R8138:Greb1l	UTSW	18	10,533,060 (GRCm39)	missense	probably benign	0.13
R8208:Greb1l	UTSW	18	10,510,703 (GRCm39)	missense	probably damaging	1.00
R8227:Greb1l	UTSW	18	10,515,371 (GRCm39)	missense	probably damaging	1.00
R8312:Greb1l	UTSW	18	10,511,587 (GRCm39)	intron	probably benign
R8331:Greb1l	UTSW	18	10,458,706 (GRCm39)	missense	possibly damaging	0.96
R8364:Greb1l	UTSW	18	10,529,687 (GRCm39)	missense	possibly damaging	0.85
R8389:Greb1l	UTSW	18	10,529,613 (GRCm39)	missense	probably benign	0.00
R8695:Greb1l	UTSW	18	10,544,450 (GRCm39)	missense	probably benign	0.01
R8795:Greb1l	UTSW	18	10,553,739 (GRCm39)	missense	probably damaging	0.98
R8836:Greb1l	UTSW	18	10,509,257 (GRCm39)	missense	probably benign	0.30
R8862:Greb1l	UTSW	18	10,555,042 (GRCm39)	missense	possibly damaging	0.90
R8872:Greb1l	UTSW	18	10,529,684 (GRCm39)	missense	probably benign	0.18
R8874:Greb1l	UTSW	18	10,544,896 (GRCm39)	missense	probably benign	0.01
R8886:Greb1l	UTSW	18	10,553,843 (GRCm39)	missense	probably benign	0.21
R8921:Greb1l	UTSW	18	10,541,825 (GRCm39)	missense	probably benign	0.01
R8997:Greb1l	UTSW	18	10,510,747 (GRCm39)	missense	probably damaging	1.00
R9015:Greb1l	UTSW	18	10,541,675 (GRCm39)	missense	probably benign	0.00
R9018:Greb1l	UTSW	18	10,542,004 (GRCm39)	missense	possibly damaging	0.76
R9074:Greb1l	UTSW	18	10,558,795 (GRCm39)	missense	probably damaging	1.00
R9074:Greb1l	UTSW	18	10,532,797 (GRCm39)	missense	probably damaging	1.00
R9117:Greb1l	UTSW	18	10,542,422 (GRCm39)	missense	probably benign	0.31
R9189:Greb1l	UTSW	18	10,499,983 (GRCm39)	missense	probably benign
R9332:Greb1l	UTSW	18	10,532,796 (GRCm39)	missense	possibly damaging	0.92
R9367:Greb1l	UTSW	18	10,522,130 (GRCm39)	missense	probably benign	0.00
R9497:Greb1l	UTSW	18	10,458,600 (GRCm39)	missense	probably benign	0.00
R9796:Greb1l	UTSW	18	10,538,233 (GRCm39)	missense	possibly damaging	0.69
Z1176:Greb1l	UTSW	18	10,515,305 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCCAGCTGCATCAATTG -3'
(R):5'- GGGCTCTTACTAAGGAGAGGAC -3'

Sequencing Primer
(F):5'- CCAGCTGCATCAATTGGATACTG -3'
(R):5'- CTCTTACTAAGGAGAGGACTGCAC -3'

Posted On

2016-07-06