Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Greb1l'

555364

Institutional Source

Beutler Lab

Gene Symbol

Greb1l

Ensembl Gene

ENSMUSG00000042942

Gene Name

growth regulation by estrogen in breast cancer-like

Synonyms

AK220484, mKIAA4095

Accession Numbers

Genbank: NM_001083628; MGI: 3576497

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4453001 (G1)

Quality Score

222.009

Status

Not validated

Chromosome

Chromosomal Location

10325177-10562934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 10533032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 975 (Q975H)

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: Q975H

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: Q975H

Domain	Start	End	E-Value	Type
Pfam:GREB1	1	1172	N/A	PFAM
Pfam:GREB1	1154	1913	N/A	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172532
AA Change: Q866H

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134090
Gene: ENSMUSG00000042942
AA Change: Q866H

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: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316 (GRCm38)	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782 (GRCm38)	L334*	probably null	Het
Adam28	A	T	14: 68,634,876 (GRCm38)	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312 (GRCm38)	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636 (GRCm38)	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460 (GRCm38)	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686 (GRCm38)	C295*	probably null	Het
Amn1	G	T	6: 149,170,859 (GRCm38)	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549 (GRCm38)	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,581,179 (GRCm38)	E847G	probably benign	Het
Atp2b1	A	G	10: 99,016,978 (GRCm38)	E1039G	probably benign	Het
Caskin1	A	G	17: 24,499,292 (GRCm38)	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106 (GRCm38)	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476 (GRCm38)	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079 (GRCm38)	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,074,872 (GRCm38)	S298R	possibly damaging	Het
Cul7	T	A	17: 46,651,820 (GRCm38)	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,011,791 (GRCm38)	I145F	probably damaging	Het
Cypt4	G	C	9: 24,625,474 (GRCm38)	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644 (GRCm38)	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522 (GRCm38)		probably null	Het
Dock1	A	G	7: 135,152,300 (GRCm38)	K1602R	probably benign	Het
Ears2	T	C	7: 122,048,339 (GRCm38)	I241V	probably benign	Het
Eml6	T	C	11: 29,802,489 (GRCm38)	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810 (GRCm38)	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314 (GRCm38)	V268M		Het
Gart	A	G	16: 91,636,538 (GRCm38)	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,704,538 (GRCm38)	N391K	probably benign	Het
Grik5	C	A	7: 25,010,694 (GRCm38)	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057 (GRCm38)	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852 (GRCm38)	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954 (GRCm38)	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872 (GRCm38)	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170 (GRCm38)	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173 (GRCm38)	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,579,114 (GRCm38)	V147A	probably benign	Het
Klra9	T	A	6: 130,191,321 (GRCm38)		probably benign	Het
Lamp3	G	T	16: 19,673,460 (GRCm38)	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,757,794 (GRCm38)	E1188K	probably damaging	Het
Med1	T	A	11: 98,158,417 (GRCm38)	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,158,673 (GRCm38)	T242A	probably damaging	Het
Nemp1	T	A	10: 127,696,254 (GRCm38)	F392Y	probably benign	Het
Obscn	T	A	11: 59,069,834 (GRCm38)	H3217L	possibly damaging	Het
Obscn	C	A	11: 59,060,976 (GRCm38)	G3984W	probably damaging	Het
Olfr1157	C	T	2: 87,962,458 (GRCm38)	V145M	possibly damaging	Het
Olfr1328	A	G	4: 118,934,626 (GRCm38)	M74T	probably benign	Het
Olfr1532-ps1	C	T	7: 106,914,929 (GRCm38)	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842 (GRCm38)	I206V	probably benign	Het
Olfr71	A	G	4: 43,706,464 (GRCm38)	Y35H	probably damaging	Het
P4ha1	G	T	10: 59,350,472 (GRCm38)	A258S	probably benign	Het
Parn	T	C	16: 13,607,281 (GRCm38)	I423V	probably benign	Het
Pcdh20	C	A	14: 88,467,308 (GRCm38)	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,672,756 (GRCm38)		probably null	Het
Pcsk1	A	T	13: 75,112,650 (GRCm38)	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022 (GRCm38)	S1803R	probably benign	Het
Pkd1l3	C	A	8: 109,660,801 (GRCm38)	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,963,469 (GRCm38)	Q1119K		Het
Prr30	T	A	14: 101,198,935 (GRCm38)	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370 (GRCm38)	N111S	probably benign	Het
Reck	G	A	4: 43,895,850 (GRCm38)	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397 (GRCm38)	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779 (GRCm38)	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038 (GRCm38)	R2149G	probably benign	Het
Slc20a2	C	A	8: 22,535,382 (GRCm38)	F33L	probably damaging	Het
Spopl	T	A	2: 23,545,449 (GRCm38)	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320 (GRCm38)	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783 (GRCm38)		probably null	Het
St8sia1	C	T	6: 142,829,252 (GRCm38)	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502 (GRCm38)	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857 (GRCm38)	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880 (GRCm38)	R876S	unknown	Het
Thap12	G	T	7: 98,715,038 (GRCm38)	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614 (GRCm38)		probably null	Het
Traf4	G	A	11: 78,161,534 (GRCm38)	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598 (GRCm38)		probably null	Het
Usp20	G	A	2: 31,017,486 (GRCm38)	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316 (GRCm38)		probably benign	Het
Vmn1r21	T	C	6: 57,844,322 (GRCm38)	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742 (GRCm38)	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003 (GRCm38)	T30A	probably benign	Het
Zfp536	T	C	7: 37,479,757 (GRCm38)	H1141R	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	10,533,031 (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
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'- ATGGCTCTCACCACTATGGC -3'
(R):5'- CAGTGCGTCCTTTCATTTAGCTTAG -3'

Sequencing Primer
(F):5'- TATGGCGTCCCTCCGAGAC -3'
(R):5'- ATTTAGCTTAGCCTGGCCAG -3'

Posted On

2019-06-07