Mutagenetix > Incidental Mutation

Incidental Mutation 'R8836:Greb1l'

674192

Institutional Source

Beutler Lab

Gene Symbol

Greb1l

Ensembl Gene

ENSMUSG00000042942

Gene Name

growth regulation by estrogen in breast cancer-like

Synonyms

AK220484, mKIAA4095

MMRRC Submission

068664-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10325177-10562934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10509257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 523 (H523L)

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: H523L

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: H523L

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

SMART Domains

Protein: ENSMUSP00000134090
Gene: ENSMUSG00000042942

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (69/69)

Allele List at MGI

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

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933417A18Rik	T	A	13: 34,932,543 (GRCm38)	W92R	probably damaging	Het
Ap4m1	T	A	5: 138,174,799 (GRCm38)	I134N	probably damaging	Het
B020004J07Rik	T	C	4: 101,835,825 (GRCm38)	K326R	probably benign	Het
Cacna1b	A	G	2: 24,652,970 (GRCm38)	V1294A	possibly damaging	Het
Carmil1	A	T	13: 24,155,046 (GRCm38)	S160T	probably damaging	Het
Ccdc7b	C	A	8: 129,131,031 (GRCm38)		probably benign	Het
Chd9	T	G	8: 91,041,184 (GRCm38)	N2436K	probably damaging	Het
Colca2	A	G	9: 51,270,804 (GRCm38)	L156P	probably damaging	Het
Cradd	G	A	10: 95,322,600 (GRCm38)	A95V	probably benign	Het
Cttnbp2	T	G	6: 18,375,953 (GRCm38)	E1529A	probably damaging	Het
Cyp11b1	T	C	15: 74,838,538 (GRCm38)	I305V	possibly damaging	Het
Cyp2j6	A	T	4: 96,523,746 (GRCm38)	N428K	probably damaging	Het
Cyp3a44	A	T	5: 145,794,918 (GRCm38)	S139R	probably damaging	Het
Dysf	C	T	6: 84,116,123 (GRCm38)	R1073C	probably damaging	Het
Ei24	A	G	9: 36,790,202 (GRCm38)	F23S		Het
Enam	T	C	5: 88,491,265 (GRCm38)		probably null	Het
Ezh2	A	T	6: 47,554,262 (GRCm38)	C163S	probably benign	Het
Fam76b	T	A	9: 13,844,085 (GRCm38)	F329L	probably benign	Het
Gatad2b	G	A	3: 90,356,200 (GRCm38)	A535T	probably damaging	Het
Gm5622	T	A	14: 51,559,313 (GRCm38)		probably benign	Het
Gm9195	C	A	14: 72,458,390 (GRCm38)	A1401S	probably benign	Het
Grhl3	T	A	4: 135,561,329 (GRCm38)	N15I	probably damaging	Het
Gsta3	A	T	1: 21,260,059 (GRCm38)	Y95F	probably benign	Het
Htr1f	C	A	16: 64,926,833 (GRCm38)	G32V	probably benign	Het
Il18r1	C	A	1: 40,495,856 (GRCm38)	Q404K	probably benign	Het
Izumo3	A	T	4: 92,144,979 (GRCm38)		probably null	Het
Kctd19	T	A	8: 105,385,396 (GRCm38)	I806F	probably damaging	Het
Lama4	G	T	10: 39,026,591 (GRCm38)	C187F	probably damaging	Het
Lamp3	T	G	16: 19,701,038 (GRCm38)	I132L	probably benign	Het
Ly9	A	T	1: 171,604,991 (GRCm38)	Y151*	probably null	Het
Lztr1	T	C	16: 17,525,538 (GRCm38)	L474P	probably benign	Het
Mcm9	A	T	10: 53,626,034 (GRCm38)	Y79N		Het
Mocs2	T	A	13: 114,825,224 (GRCm38)	N80K	possibly damaging	Het
Mrgbp	T	A	2: 180,582,919 (GRCm38)	C38S	probably benign	Het
Ncs1	G	T	2: 31,246,147 (GRCm38)		probably benign	Het
Olfr1048	T	C	2: 86,236,544 (GRCm38)	N90S	probably benign	Het
Olfr642	G	A	7: 104,049,848 (GRCm38)	P169S	probably benign	Het
Palm2	A	G	4: 57,709,916 (GRCm38)	D287G	probably benign	Het
Pax5	A	T	4: 44,645,621 (GRCm38)	V236E	probably benign	Het
Pcdhgb5	A	G	18: 37,732,207 (GRCm38)	I352V	probably benign	Het
Pik3r5	A	G	11: 68,494,278 (GRCm38)	T670A	probably benign	Het
Plxna2	T	A	1: 194,796,935 (GRCm38)	N1301K	possibly damaging	Het
Pou5f2	G	A	13: 78,025,767 (GRCm38)	G276D	probably damaging	Het
Ppl	C	G	16: 5,088,990 (GRCm38)	R1147P	probably damaging	Het
Prkdc	C	A	16: 15,727,659 (GRCm38)	R1880S	probably damaging	Het
Rbfox1	T	A	16: 7,409,741 (GRCm38)	D373E	probably benign	Het
Rbm24	A	G	13: 46,429,304 (GRCm38)	D233G	probably damaging	Het
Rbp3	A	T	14: 33,958,631 (GRCm38)	E1063D	possibly damaging	Het
Rc3h2	A	G	2: 37,377,929 (GRCm38)	V939A	possibly damaging	Het
Relb	C	A	7: 19,611,874 (GRCm38)	V385L	possibly damaging	Het
Robo4	T	G	9: 37,405,834 (GRCm38)	S482A	unknown	Het
Ryr1	A	C	7: 29,074,666 (GRCm38)	L2426R	probably damaging	Het
Sass6	A	T	3: 116,613,949 (GRCm38)	E238V	possibly damaging	Het
Ski	T	C	4: 155,160,590 (GRCm38)	I400V	probably benign	Het
Slc27a2	C	A	2: 126,574,736 (GRCm38)	A336D		Het
Slc30a3	T	C	5: 31,093,324 (GRCm38)	T12A	possibly damaging	Het
Slc6a6	T	C	6: 91,748,463 (GRCm38)	V447A	probably damaging	Het
Smad1	T	A	8: 79,371,925 (GRCm38)	I87F	probably damaging	Het
Spns1	G	A	7: 126,372,421 (GRCm38)	S319F	possibly damaging	Het
Sytl3	C	A	17: 6,706,011 (GRCm38)	T237N	possibly damaging	Het
Tdrd7	A	G	4: 45,987,570 (GRCm38)	T68A	probably damaging	Het
Tmem135	G	C	7: 89,147,978 (GRCm38)	L357V	probably benign	Het
Tmem238	A	G	7: 4,789,521 (GRCm38)	C8R	possibly damaging	Het
Ubxn2b	A	T	4: 6,216,061 (GRCm38)	Q328L	probably damaging	Het
Vmn1r226	A	G	17: 20,687,871 (GRCm38)	T122A	probably benign	Het
Vps13d	A	G	4: 145,156,078 (GRCm38)	F982L		Het
Xpo4	T	C	14: 57,664,910 (GRCm38)	E16G	probably benign	Het
Zbtb17	T	A	4: 141,461,922 (GRCm38)	M51K	possibly damaging	Het
Zdhhc1	A	G	8: 105,473,541 (GRCm38)	F315S	probably benign	Het
Zfp568	C	T	7: 30,023,034 (GRCm38)	T468M	probably damaging	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	10,533,032 (GRCm38)	missense	probably benign	0.08
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
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'- AGCCGCACATTGCAATCTTC -3'
(R):5'- AGCGTAATTACATGGATGCTGG -3'

Sequencing Primer
(F):5'- GATTCTCGTTAACATAGGTCCTGAC -3'
(R):5'- CATGGATGCTGGAAATATCAATTGC -3'

Posted On

2021-07-15