Mutagenetix > Incidental Mutation

Incidental Mutation 'R9367:Greb1l'

709090

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9367 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10325177-10562940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10522130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 742 (H742L)

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: H742L

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

SMART Domains

Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
AA Change: H742L

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: H633L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000134090
Gene: ENSMUSG00000042942
AA Change: H633L

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
4930568D16Rik	A	T	2: 35,244,939 (GRCm39)	Y138N	probably benign	Het
Abca4	T	C	3: 121,838,197 (GRCm39)	M1T	probably null	Het
Acer3	A	G	7: 97,908,621 (GRCm39)	V104A	probably damaging	Het
Agpat4	A	G	17: 12,435,597 (GRCm39)	E287G	probably benign	Het
Akip1	C	T	7: 109,308,156 (GRCm39)	A146V	unknown	Het
Ank2	T	C	3: 126,738,678 (GRCm39)	N2402S	unknown	Het
Arhgdig	A	T	17: 26,418,451 (GRCm39)	Y177*	probably null	Het
Arhgef38	T	A	3: 132,847,998 (GRCm39)	T355S	unknown	Het
Atp8a2	C	A	14: 60,249,827 (GRCm39)		probably null	Het
Atp8b4	A	G	2: 126,216,430 (GRCm39)	I672T	probably damaging	Het
Baat	T	A	4: 49,503,008 (GRCm39)	D38V	probably damaging	Het
Bcl9	T	C	3: 97,117,861 (GRCm39)	S278G	probably benign	Het
Ccdc150	C	T	1: 54,324,760 (GRCm39)	L350F	probably damaging	Het
Ceacam20	T	G	7: 19,705,533 (GRCm39)	S175A	probably damaging	Het
Chd6	A	T	2: 160,871,784 (GRCm39)	I217K	possibly damaging	Het
Cnppd1	T	C	1: 75,117,617 (GRCm39)	I35V	probably benign	Het
Col15a1	T	C	4: 47,245,603 (GRCm39)	I118T	probably damaging	Het
Csmd3	A	T	15: 47,567,564 (GRCm39)	Y1289N		Het
Dio2	T	C	12: 90,696,587 (GRCm39)	T134A	probably benign	Het
Dnaaf9	A	T	2: 130,581,380 (GRCm39)	N678K	probably benign	Het
Dnah17	A	G	11: 117,987,464 (GRCm39)	V1282A	possibly damaging	Het
Dnah17	A	G	11: 118,012,212 (GRCm39)	S517P	possibly damaging	Het
Dync2h1	C	T	9: 7,125,730 (GRCm39)		probably null	Het
Echdc2	C	A	4: 108,036,111 (GRCm39)	P274Q	probably damaging	Het
Fam117a	T	A	11: 95,271,570 (GRCm39)	C381S	probably damaging	Het
Fbxl12	A	G	9: 20,550,130 (GRCm39)	F122S	probably damaging	Het
Gen1	G	A	12: 11,291,309 (GRCm39)	Q892*	probably null	Het
Gimap4	A	G	6: 48,667,746 (GRCm39)	Y167C	probably damaging	Het
Gle1	T	A	2: 29,839,014 (GRCm39)	F476L	probably damaging	Het
Gpr135	A	T	12: 72,117,473 (GRCm39)	V98E	possibly damaging	Het
Habp2	G	T	19: 56,304,781 (GRCm39)	C392F	probably damaging	Het
Hapln3	G	T	7: 78,771,455 (GRCm39)	R145S	probably damaging	Het
Ikbkb	A	G	8: 23,171,711 (GRCm39)	C179R	probably damaging	Het
Kat6a	A	T	8: 23,400,156 (GRCm39)	I306L	possibly damaging	Het
Lmo3	A	T	6: 138,342,958 (GRCm39)	Y140*	probably null	Het
Lrrc32	T	A	7: 98,148,937 (GRCm39)	N572K	probably damaging	Het
Lrrn1	T	A	6: 107,545,093 (GRCm39)	M297K	probably damaging	Het
Magi2	G	A	5: 20,766,308 (GRCm39)	V676I	probably damaging	Het
Mdga1	T	C	17: 30,051,282 (GRCm39)	*957W	probably null	Het
Mip	G	T	10: 128,063,029 (GRCm39)	G158V	probably damaging	Het
Mmp14	T	C	14: 54,677,960 (GRCm39)	I527T	probably benign	Het
Mmp27	G	A	9: 7,573,550 (GRCm39)	G188D	probably damaging	Het
Mylk4	A	T	13: 32,960,236 (GRCm39)	C17S	possibly damaging	Het
Naa50	T	G	16: 43,977,554 (GRCm39)	I94R	probably damaging	Het
Nyap1	A	T	5: 137,734,248 (GRCm39)	Y262N	probably damaging	Het
Obsl1	A	G	1: 75,466,177 (GRCm39)	V1517A	probably benign	Het
P4htm	T	A	9: 108,459,147 (GRCm39)	M262L	probably benign	Het
Pappa2	T	C	1: 158,784,542 (GRCm39)	E156G	probably benign	Het
Pcdhb15	A	T	18: 37,607,971 (GRCm39)	Y401F	possibly damaging	Het
Pde2a	G	A	7: 101,160,361 (GRCm39)	R845H	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Penk	C	T	4: 4,134,097 (GRCm39)	M183I	probably benign	Het
Pole	T	C	5: 110,444,955 (GRCm39)	V437A	probably damaging	Het
Ppp1r7	T	C	1: 93,279,262 (GRCm39)	I114T	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Pwp2	G	A	10: 78,014,827 (GRCm39)	Q386*	probably null	Het
Rad17	A	T	13: 100,769,720 (GRCm39)	S280T	possibly damaging	Het
Rhebl1	C	T	15: 98,776,414 (GRCm39)	E128K	possibly damaging	Het
Sema3e	G	T	5: 14,291,084 (GRCm39)	V615L	probably benign	Het
Slc22a2	A	T	17: 12,824,837 (GRCm39)	Y233F	probably benign	Het
Ssu2	A	G	6: 112,357,975 (GRCm39)	S123P	probably damaging	Het
Stk10	A	G	11: 32,538,878 (GRCm39)	E239G		Het
Surf6	G	T	2: 26,782,380 (GRCm39)	Q316K	probably damaging	Het
Tcerg1	G	A	18: 42,685,573 (GRCm39)	D637N	possibly damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tnxb	C	A	17: 34,931,993 (GRCm39)	F2175L	probably damaging	Het
Trp53i11	G	C	2: 93,029,273 (GRCm39)	V91L	probably benign	Het
Tspan9	A	G	6: 127,944,102 (GRCm39)	V66A	probably damaging	Het
Usp16	C	T	16: 87,261,669 (GRCm39)	T95M	probably benign	Het
Usp9y	A	T	Y: 1,324,982 (GRCm39)	F1691Y	probably damaging	Het
Uty	A	T	Y: 1,099,584 (GRCm39)	L1204I	possibly damaging	Het
Vmn1r192	A	T	13: 22,371,800 (GRCm39)	V140D	possibly damaging	Het
Vps54	T	C	11: 21,250,234 (GRCm39)	V552A	probably benign	Het
Vps8	T	C	16: 21,340,668 (GRCm39)	V804A	possibly damaging	Het
Zfp869	A	C	8: 70,161,057 (GRCm39)	L33R	probably 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
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
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'- TGCCCAGTATTGGTCAACAC -3'
(R):5'- AGTGCCTTTACACCATGACTAAAG -3'

Sequencing Primer
(F):5'- GGTCAACACTGAGCTCTCTC -3'
(R):5'- CACCATGACTAAAGGGTTCCTTAGG -3'

Posted On

2022-04-18