Mutagenetix > Incidental Mutation

Incidental Mutation 'R4038:Greb1l'

313816

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

040965-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4038 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10325177-10562940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10515209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 558 (T558I)

Ref Sequence

ENSEMBL: ENSMUSP00000134090 (fasta)

Gene Model

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

AlphaFold

B9EJV3

Predicted Effect

probably benign
Transcript: ENSMUST00000048977
AA Change: T667I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: T667I

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: T558I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134090
Gene: ENSMUSG00000042942
AA Change: T558I

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: T68I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000134314
Gene: ENSMUSG00000042942
AA Change: T68I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174553

Meta Mutation Damage Score

0.0831

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.1%

Validation Efficiency

93% (39/42)

Allele List at MGI

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

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ate1	A	G	7: 130,106,495 (GRCm39)	S282P	probably damaging	Het
Cacna1d	T	A	14: 29,788,040 (GRCm39)	Q1610L	probably damaging	Het
Carmil2	C	A	8: 106,422,039 (GRCm39)	R1103S	probably damaging	Het
Clca3a1	T	A	3: 144,460,994 (GRCm39)	Y219F	probably benign	Het
Creb3l3	A	G	10: 80,925,172 (GRCm39)	V224A	probably benign	Het
Crnkl1	T	A	2: 145,774,247 (GRCm39)	D72V	possibly damaging	Het
Dhcr24	T	C	4: 106,431,075 (GRCm39)	F255L	probably benign	Het
Eef2kmt	A	T	16: 5,063,135 (GRCm39)	V335D	probably damaging	Het
Elp2	T	A	18: 24,767,405 (GRCm39)	W696R	probably damaging	Het
Glb1l3	A	C	9: 26,740,343 (GRCm39)	M329R	probably damaging	Het
Gm4787	A	T	12: 81,425,132 (GRCm39)	F342Y	probably damaging	Het
Gpr137c	C	A	14: 45,457,687 (GRCm39)	L80I	probably damaging	Het
Gpr83	A	G	9: 14,772,073 (GRCm39)	I82V	possibly damaging	Het
Hnrnpul2	T	A	19: 8,800,591 (GRCm39)		probably benign	Het
Hspa2	T	C	12: 76,452,542 (GRCm39)	V412A	probably damaging	Het
Iqcd	T	C	5: 120,740,587 (GRCm39)	V306A	probably damaging	Het
Lmod3	T	C	6: 97,225,275 (GRCm39)	N182S	probably benign	Het
Metrn	T	C	17: 26,013,984 (GRCm39)	T281A	probably benign	Het
Mid1-ps1	G	A	Y: 90,773,563 (GRCm39)		noncoding transcript	Het
Mmachc	T	A	4: 116,563,215 (GRCm39)	T47S	probably damaging	Het
Nfia	C	A	4: 97,909,074 (GRCm39)	R277S	probably damaging	Het
Or9m2	T	A	2: 87,821,262 (GRCm39)	I269N	possibly damaging	Het
Pcdha8	T	C	18: 37,125,914 (GRCm39)	M132T	probably benign	Het
Prkaa2	T	C	4: 104,908,444 (GRCm39)	N144D	probably damaging	Het
Ptprf	C	T	4: 118,114,805 (GRCm39)	R150H	probably damaging	Het
Sfmbt1	T	G	14: 30,509,449 (GRCm39)	D309E	probably damaging	Het
Skint5	G	T	4: 113,743,011 (GRCm39)	T352K	unknown	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc28a2	C	A	2: 122,284,996 (GRCm39)	A328E	probably benign	Het
Ssc4d	C	A	5: 135,999,170 (GRCm39)	W11L	possibly damaging	Het
Sycp2	C	A	2: 178,022,720 (GRCm39)	M470I	possibly damaging	Het
Tfap2c	A	T	2: 172,398,110 (GRCm39)	S413C	probably damaging	Het
Unc13c	A	G	9: 73,441,188 (GRCm39)		probably null	Het
Vmn1r218	T	C	13: 23,320,971 (GRCm39)	V26A	possibly damaging	Het
Wipf3	G	A	6: 54,458,813 (GRCm39)	G56D	probably damaging	Het
Wiz	T	C	17: 32,578,198 (GRCm39)	E429G	probably damaging	Het
Zer1	T	C	2: 29,997,535 (GRCm39)	N457S	probably damaging	Het
Zfp931	T	A	2: 177,709,777 (GRCm39)	Q203L	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CAGATTTCAGGGGTAAACAGGC -3'
(R):5'- TGGAAGCTCACAGAAAGGCTC -3'

Sequencing Primer
(F):5'- GGCAACTCCATAAAGCCCGG -3'
(R):5'- TGACTGTCGAACACGCTG -3'

Posted On

2015-04-30