Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02516:Greb1l'

296792

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Greb1l

Ensembl Gene

ENSMUSG00000042942

Gene Name

growth regulation by estrogen in breast cancer-like

Synonyms

mKIAA4095, AK220484

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02516

Quality Score

Status

Chromosome

Chromosomal Location

10325177-10562940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 10537064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 1010 (T1010P)

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: T1010P

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: T1010P

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: T901P

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000134090
Gene: ENSMUSG00000042942
AA Change: T901P

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

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	C	T	8: 25,388,612 (GRCm39)	S364N	probably damaging	Het
Ano8	C	T	8: 71,937,721 (GRCm39)	G47D	probably damaging	Het
App	T	C	16: 84,752,305 (GRCm39)	T743A	probably damaging	Het
Armc3	A	G	2: 19,305,317 (GRCm39)	K692E	possibly damaging	Het
Arpp21	T	C	9: 112,014,729 (GRCm39)	N25S	probably damaging	Het
Avpr1b	G	A	1: 131,528,367 (GRCm39)	V297I	probably damaging	Het
Bpi	A	G	2: 158,109,651 (GRCm39)	I200V	possibly damaging	Het
Cacna2d4	C	T	6: 119,248,831 (GRCm39)		probably benign	Het
Cbarp	A	G	10: 79,971,379 (GRCm39)	Y149H	probably damaging	Het
Ccdc85c	T	C	12: 108,241,160 (GRCm39)	N78S	unknown	Het
Cdcp1	G	T	9: 123,002,702 (GRCm39)	L790M	possibly damaging	Het
Cdkn2d	T	A	9: 21,200,439 (GRCm39)	I111F	probably benign	Het
Ctsr	A	G	13: 61,310,992 (GRCm39)	V18A	probably benign	Het
Dapk1	A	G	13: 60,844,161 (GRCm39)	D60G	probably damaging	Het
Daw1	A	C	1: 83,186,949 (GRCm39)	N253T	probably benign	Het
Dcaf7	T	A	11: 105,942,698 (GRCm39)	I215N	probably damaging	Het
Ddc	A	C	11: 11,779,125 (GRCm39)	L333R	probably damaging	Het
Dennd1a	A	G	2: 37,742,406 (GRCm39)		probably null	Het
Dnah10	C	A	5: 124,864,395 (GRCm39)	T2200K	probably damaging	Het
Dock6	T	C	9: 21,713,881 (GRCm39)	Y1883C	probably damaging	Het
Ecpas	T	C	4: 58,877,102 (GRCm39)	E111G	probably damaging	Het
Eif2ak4	T	A	2: 118,266,735 (GRCm39)	I752N	probably damaging	Het
Fcho2	A	G	13: 98,866,720 (GRCm39)	I740T	probably benign	Het
Flnc	A	G	6: 29,450,840 (GRCm39)	D1496G	probably damaging	Het
Fn1	A	G	1: 71,676,482 (GRCm39)	V583A	possibly damaging	Het
Hs3st6	T	C	17: 24,977,105 (GRCm39)	L195P	probably damaging	Het
Hyi	A	G	4: 118,219,680 (GRCm39)	E239G	probably damaging	Het
Ighv2-3	G	T	12: 113,574,818 (GRCm39)	Y112*	probably null	Het
Ints3	A	G	3: 90,310,415 (GRCm39)	F495S	probably damaging	Het
Itih2	T	A	2: 10,102,728 (GRCm39)	H802L	probably benign	Het
Jag2	C	T	12: 112,874,186 (GRCm39)	V990M	probably damaging	Het
Kat6b	T	C	14: 21,659,936 (GRCm39)		probably benign	Het
Krtap4-8	C	T	11: 99,671,168 (GRCm39)		probably benign	Het
Lhx4	A	G	1: 155,578,003 (GRCm39)	S380P	probably damaging	Het
Morn3	C	A	5: 123,175,363 (GRCm39)	E33*	probably null	Het
Mug2	C	T	6: 122,047,802 (GRCm39)	A771V	probably damaging	Het
N4bp3	A	T	11: 51,535,161 (GRCm39)	S343T	probably benign	Het
Nlrp1a	T	C	11: 71,005,286 (GRCm39)	N643S	probably damaging	Het
Or2c1	A	C	16: 3,657,200 (GRCm39)	D121A	probably damaging	Het
Or2h1b	T	A	17: 37,462,163 (GRCm39)	R79S	possibly damaging	Het
Or6c8	T	A	10: 128,915,662 (GRCm39)	M57L	possibly damaging	Het
Phc3	A	G	3: 31,002,942 (GRCm39)	F192S	probably damaging	Het
Pigq	C	T	17: 26,156,221 (GRCm39)	R69H	probably benign	Het
Plk3	A	G	4: 116,989,186 (GRCm39)	C222R	probably damaging	Het
Pomt2	T	C	12: 87,166,420 (GRCm39)	T490A	probably benign	Het
Prss29	T	C	17: 25,539,875 (GRCm39)	I91T	probably damaging	Het
Ralgapb	A	T	2: 158,307,735 (GRCm39)		probably benign	Het
Sccpdh	G	A	1: 179,509,256 (GRCm39)	G75D	probably damaging	Het
Serpine2	T	C	1: 79,772,714 (GRCm39)		probably benign	Het
Sfr1	T	G	19: 47,721,429 (GRCm39)		probably null	Het
Slc22a23	C	A	13: 34,387,938 (GRCm39)	C386F	probably benign	Het
Slc22a27	T	C	19: 7,842,176 (GRCm39)	K433R	probably damaging	Het
Slc39a12	T	C	2: 14,405,146 (GRCm39)	L246P	probably damaging	Het
Slc4a11	A	G	2: 130,533,313 (GRCm39)	I191T	possibly damaging	Het
Slc9c1	A	G	16: 45,398,238 (GRCm39)	N668D	probably damaging	Het
Supt16	A	T	14: 52,421,421 (GRCm39)	D41E	possibly damaging	Het
Tamalin	G	A	15: 101,126,932 (GRCm39)	V137I	probably damaging	Het
Ugt2b37	A	G	5: 87,388,741 (GRCm39)	S491P	probably damaging	Het
Urb1	G	T	16: 90,569,583 (GRCm39)	T1381N	possibly damaging	Het
Usp8	A	G	2: 126,584,094 (GRCm39)	I423M	probably benign	Het
Vmn1r191	T	A	13: 22,363,710 (GRCm39)	I15F	probably benign	Het
Zbtb5	A	T	4: 44,993,798 (GRCm39)	Y529N	probably damaging	Het
Zfp541	T	A	7: 15,816,918 (GRCm39)		probably null	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
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
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

Posted On

2015-04-16