Mutagenetix > Incidental Mutation

Incidental Mutation 'R5902:Greb1l'

456420

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

044100-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5902 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10325177-10562934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10538302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1105 (E1105G)

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: E1105G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: E1105G

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

Meta Mutation Damage Score

0.0838

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 92.1%

Validation Efficiency

99% (81/82)

Allele List at MGI

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

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,708,937 (GRCm38)	M1V	probably null	Het
Abca13	T	A	11: 9,297,177 (GRCm38)	L2308H	probably damaging	Het
Abcc8	T	C	7: 46,115,039 (GRCm38)	T1161A	probably benign	Het
Acin1	T	A	14: 54,663,673 (GRCm38)	T659S	probably benign	Het
Actl7a	G	T	4: 56,743,827 (GRCm38)	R118L	probably damaging	Het
Acyp2	C	T	11: 30,506,354 (GRCm38)	E98K	possibly damaging	Het
Alkbh8	A	G	9: 3,385,414 (GRCm38)	K569E	probably benign	Het
Anxa3	A	T	5: 96,812,853 (GRCm38)	K39*	probably null	Het
Aoc2	A	G	11: 101,329,246 (GRCm38)	E659G	probably damaging	Het
Atg7	C	T	6: 114,673,678 (GRCm38)	T83M	possibly damaging	Het
AU022252	T	C	4: 119,226,904 (GRCm38)	D104G	probably benign	Het
Car6	T	C	4: 150,187,499 (GRCm38)	Y231C	possibly damaging	Het
Cdh10	T	G	15: 18,985,255 (GRCm38)		probably null	Het
Cebpz	A	C	17: 78,925,937 (GRCm38)	M787R	probably benign	Het
Chst2	A	G	9: 95,405,609 (GRCm38)	L228P	probably damaging	Het
Clic4	T	C	4: 135,272,558 (GRCm38)	K11R	probably benign	Het
Col6a3	C	T	1: 90,802,199 (GRCm38)		probably null	Het
Commd7	T	A	2: 153,621,817 (GRCm38)	T144S	probably damaging	Het
Ctla2a	T	A	13: 60,935,020 (GRCm38)	*138Y	probably null	Het
Dhx33	A	T	11: 70,989,131 (GRCm38)	V351D	probably damaging	Het
Dnah9	G	A	11: 66,025,187 (GRCm38)	T2313I	probably benign	Het
Dspp	A	T	5: 104,178,111 (GRCm38)	D780V	unknown	Het
Dync1li1	A	G	9: 114,717,861 (GRCm38)		probably null	Het
E2f3	C	T	13: 29,985,267 (GRCm38)		probably benign	Het
Fan1	T	C	7: 64,373,322 (GRCm38)		probably null	Het
Gart	A	G	16: 91,628,527 (GRCm38)	S617P	probably damaging	Het
Ggcx	A	G	6: 72,429,996 (GRCm38)	N705S	possibly damaging	Het
Gm4841	A	T	18: 60,270,796 (GRCm38)	V75E	probably damaging	Het
Hr	C	A	14: 70,557,791 (GRCm38)	Q288K	probably benign	Het
Hus1	T	C	11: 9,010,669 (GRCm38)		probably benign	Het
Ifi47	C	A	11: 49,095,386 (GRCm38)		probably null	Het
Irf2bp1	T	C	7: 19,004,447 (GRCm38)	V4A	probably benign	Het
Kprp	C	T	3: 92,824,528 (GRCm38)	C405Y	unknown	Het
Lacc1	T	C	14: 77,034,799 (GRCm38)	I186V	possibly damaging	Het
Lifr	A	G	15: 7,190,750 (GRCm38)	T954A	probably benign	Het
Lonrf2	T	C	1: 38,807,093 (GRCm38)	M333V	probably benign	Het
Mthfd1	A	T	12: 76,291,052 (GRCm38)	H400L	probably benign	Het
Myh4	A	G	11: 67,250,907 (GRCm38)	K864R	possibly damaging	Het
Nup50	C	T	15: 84,935,440 (GRCm38)	A305V	probably benign	Het
Or4a74	T	A	2: 89,609,251 (GRCm38)	I284L	probably damaging	Het
Or4k44	C	T	2: 111,537,394 (GRCm38)	M298I	probably benign	Het
Pax4	G	T	6: 28,447,127 (GRCm38)	Q3K	probably benign	Het
Pced1b	T	G	15: 97,385,089 (GRCm38)	Y336*	probably null	Het
Postn	C	A	3: 54,372,089 (GRCm38)	N329K	probably benign	Het
Prickle1	T	C	15: 93,510,672 (GRCm38)	E82G	probably null	Het
Prtn3	T	C	10: 79,882,932 (GRCm38)	Y241H	probably damaging	Het
Rasgrf2	A	T	13: 91,919,892 (GRCm38)	I260K	probably damaging	Het
Sh3glb1	T	C	3: 144,712,670 (GRCm38)	N44S	possibly damaging	Het
Sis	A	T	3: 72,960,256 (GRCm38)		probably null	Het
Slc4a9	A	G	18: 36,529,333 (GRCm38)		probably null	Het
Slc4a9	A	T	18: 36,531,507 (GRCm38)	D406V	probably damaging	Het
Slc8a1	C	T	17: 81,408,082 (GRCm38)	G841R	probably damaging	Het
Smn1	C	T	13: 100,126,904 (GRCm38)	P60L	probably benign	Het
Snai1	G	A	2: 167,542,010 (GRCm38)	C241Y	probably damaging	Het
Spock3	A	G	8: 63,355,302 (GRCm38)	D411G	unknown	Het
Szt2	T	A	4: 118,391,503 (GRCm38)	T607S	probably benign	Het
Tcap	A	T	11: 98,383,847 (GRCm38)	M1L	probably benign	Het
Tex29	A	T	8: 11,855,723 (GRCm38)		probably benign	Het
Tex29	C	T	8: 11,854,277 (GRCm38)		probably benign	Het
Tex29	C	A	8: 11,854,276 (GRCm38)		probably benign	Het
Tln2	T	C	9: 67,362,717 (GRCm38)	T467A	probably benign	Het
Trim34a	C	T	7: 104,261,121 (GRCm38)	Q377*	probably null	Het
Ube2q1	T	A	3: 89,776,180 (GRCm38)	L144*	probably null	Het
Vps13c	A	G	9: 67,934,447 (GRCm38)	E1917G	probably benign	Het
Wdr19	T	A	5: 65,227,139 (GRCm38)	N525K	probably benign	Het
Wdr3	A	T	3: 100,144,491 (GRCm38)		probably benign	Het
Wnt5b	T	A	6: 119,448,238 (GRCm38)	H6L	probably benign	Het
Yju2	A	G	17: 55,962,077 (GRCm38)	T62A	probably damaging	Het
Zdbf2	T	C	1: 63,306,526 (GRCm38)	S1355P	possibly damaging	Het
Zfp11	T	A	5: 129,657,912 (GRCm38)	I162F	probably damaging	Het
Zpbp	T	C	11: 11,415,332 (GRCm38)	T172A	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	10,533,032 (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
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'- TGGAGAGACATGCCACCAATATG -3'
(R):5'- TGAGCTCTGCTGCTTTGCAAG -3'

Sequencing Primer
(F):5'- CAATATGGTTCATTCTATACAGGTCC -3'
(R):5'- TTGCAAGCACCCTCTGAG -3'

Posted On

2017-02-15