Mutagenetix > Incidental Mutation

Incidental Mutation 'R8872:Greb1l'

676396

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

068743-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8872 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10325177-10562940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10529684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 889 (M889L)

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: M889L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: M889L

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: M780L

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

SMART Domains

Protein: ENSMUSP00000134090
Gene: ENSMUSG00000042942
AA Change: M780L

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

99% (74/75)

Allele List at MGI

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

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	G	17: 48,401,164 (GRCm39)	S150G	possibly damaging	Het
Alpk2	A	T	18: 65,413,977 (GRCm39)	S1579R	probably damaging	Het
Ank2	C	T	3: 126,791,525 (GRCm39)	E814K	possibly damaging	Het
Cep57	A	G	9: 13,737,980 (GRCm39)		probably benign	Het
Cntnap4	A	T	8: 113,585,759 (GRCm39)	R1127S	possibly damaging	Het
Comt	C	A	16: 18,245,239 (GRCm39)		probably benign	Het
Crlf3	T	C	11: 79,938,440 (GRCm39)	N399S		Het
Crls1	T	A	2: 132,691,819 (GRCm39)	S115T	probably benign	Het
Dixdc1	A	G	9: 50,614,453 (GRCm39)	S199P	possibly damaging	Het
Dsc3	T	C	18: 20,122,679 (GRCm39)	T82A	probably benign	Het
Efcab3	T	G	11: 104,760,880 (GRCm39)	L2411R	probably benign	Het
Exosc6	T	A	8: 111,783,784 (GRCm39)	V261E	probably damaging	Het
Fbxw17	C	T	13: 50,586,300 (GRCm39)	S361L	probably benign	Het
Gfap	T	A	11: 102,786,620 (GRCm39)	N157Y	possibly damaging	Het
Gigyf2	A	T	1: 87,307,725 (GRCm39)	D177V	unknown	Het
Gls2	A	T	10: 128,040,535 (GRCm39)	Q312L	probably benign	Het
Gpr155	C	T	2: 73,197,936 (GRCm39)	V395I	probably benign	Het
Gucy1a1	T	A	3: 82,016,049 (GRCm39)	D313V	probably damaging	Het
H2-T5	T	A	17: 36,476,293 (GRCm39)	I324F	probably benign	Het
Herpud1	C	T	8: 95,113,213 (GRCm39)		probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Il27	A	C	7: 126,190,194 (GRCm39)	L140R	probably damaging	Het
Jarid2	T	C	13: 45,055,984 (GRCm39)	S397P	possibly damaging	Het
Kdm5a	A	C	6: 120,365,101 (GRCm39)	D334A	probably damaging	Het
Lman2	T	C	13: 55,496,197 (GRCm39)	T283A	probably benign	Het
Lrfn2	C	T	17: 49,378,277 (GRCm39)	Q453*	probably null	Het
Lrrfip2	A	G	9: 111,034,824 (GRCm39)	E171G	possibly damaging	Het
Mboat1	T	A	13: 30,410,397 (GRCm39)	Y285N	probably damaging	Het
Med15	C	A	16: 17,470,605 (GRCm39)	S734I	probably damaging	Het
Mgat4c	T	A	10: 102,224,146 (GRCm39)	I120N	probably damaging	Het
Ms4a4d	T	C	19: 11,530,251 (GRCm39)	M104T	possibly damaging	Het
Mtf2	A	T	5: 108,247,051 (GRCm39)	M330L	probably benign	Het
Myoc	T	C	1: 162,475,013 (GRCm39)	V188A	probably benign	Het
Nos2	T	A	11: 78,839,949 (GRCm39)	I686N	probably damaging	Het
Npffr1	T	C	10: 61,461,794 (GRCm39)	V310A	probably benign	Het
Nrap	T	C	19: 56,308,627 (GRCm39)	*1729W	probably null	Het
Odam	A	G	5: 88,035,797 (GRCm39)		probably null	Het
Olfm4	G	T	14: 80,258,943 (GRCm39)	R397L	probably damaging	Het
Or1p1c	T	G	11: 74,160,120 (GRCm39)		probably benign	Het
Polr1b	T	C	2: 128,957,613 (GRCm39)	V556A	probably damaging	Het
Prl3d3	A	G	13: 27,346,324 (GRCm39)	D186G	possibly damaging	Het
Psmc5	C	A	11: 106,152,746 (GRCm39)	Y189*	probably null	Het
Rasgrp4	A	G	7: 28,838,521 (GRCm39)	Y123C	possibly damaging	Het
Rtn4	A	G	11: 29,658,633 (GRCm39)	E929G	probably benign	Het
Scrn2	A	T	11: 96,922,961 (GRCm39)	I135F	probably damaging	Het
Sec24d	T	A	3: 123,148,585 (GRCm39)		probably benign	Het
Secisbp2l	T	C	2: 125,594,892 (GRCm39)	T523A	probably benign	Het
Skic3	T	C	13: 76,333,326 (GRCm39)	L1525P	probably damaging	Het
Slain1	T	A	14: 103,925,841 (GRCm39)		probably null	Het
Slc22a29	A	G	19: 8,137,931 (GRCm39)	V548A	probably damaging	Het
Slc25a32	T	C	15: 38,969,339 (GRCm39)	I65V	probably benign	Het
Slc30a7	A	T	3: 115,740,317 (GRCm39)	M378K	possibly damaging	Het
Smarcd1	T	A	15: 99,608,975 (GRCm39)	I383N	probably damaging	Het
Spata31h1	A	T	10: 82,128,619 (GRCm39)	S1464T	probably benign	Het
Spdye4b	G	T	5: 143,187,815 (GRCm39)	K156N	probably damaging	Het
Sptb	A	G	12: 76,658,813 (GRCm39)	Y1241H	probably benign	Het
Ssu2	G	A	6: 112,357,956 (GRCm39)	T129I	probably damaging	Het
Supt16	A	G	14: 52,411,544 (GRCm39)	V613A	probably benign	Het
Sycp3	A	T	10: 88,302,388 (GRCm39)	E126V	probably damaging	Het
Tatdn2	A	T	6: 113,681,170 (GRCm39)	Y401F	probably damaging	Het
Tigd4	T	C	3: 84,501,547 (GRCm39)	S155P	probably benign	Het
Tnrc6b	A	G	15: 80,802,290 (GRCm39)	N1502S	probably benign	Het
Ttf2	A	G	3: 100,870,644 (GRCm39)	V143A	probably benign	Het
Ttn	T	A	2: 76,618,747 (GRCm39)	D16179V	probably damaging	Het
Vmn2r106	A	T	17: 20,488,401 (GRCm39)	M666K	probably benign	Het
Vwa5b1	A	T	4: 138,305,956 (GRCm39)	V914D	probably damaging	Het
Wnk2	T	C	13: 49,210,960 (GRCm39)	M1632V	probably benign	Het
Zbtb26	T	A	2: 37,326,913 (GRCm39)	N41I	probably damaging	Het
Zc3h12a	T	C	4: 125,020,412 (GRCm39)	N144D	probably damaging	Het
Zfp266	A	T	9: 20,411,275 (GRCm39)	C301S	probably benign	Het
Zfp580	A	G	7: 5,056,216 (GRCm39)	H192R	possibly damaging	Het
Zfp748	A	G	13: 67,689,914 (GRCm39)	C449R	probably damaging	Het
Zp2	T	C	7: 119,733,025 (GRCm39)	I612V	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
R5269:Greb1l	UTSW	18	10,511,409 (GRCm39)	missense	probably benign
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
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'- CGAGGTTCCACGAAAATACAGTAC -3'
(R):5'- TAGGAGAAGGCCACCTTGAG -3'

Sequencing Primer
(F):5'- ACTGGTGTCAAGTTCACAGC -3'
(R):5'- TGTGAAATGGCCAGACAG -3'

Posted On

2021-07-15