Mutagenetix > Incidental Mutations

Incidental Mutation 'R5452:Gemin6'

432606

Institutional Source

Beutler Lab

Gene Symbol

Gemin6

Ensembl Gene

ENSMUSG00000055760

Gene Name

gem nuclear organelle associated protein 6

Synonyms

MMRRC Submission

042848-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.867) question?

Stock #

R5452 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80224441-80228497 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 80227749 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 46 (V46G)

Ref Sequence

ENSEMBL: ENSMUSP00000063554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069486]

Predicted Effect

probably damaging
Transcript: ENSMUST00000069486
AA Change: V46G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063554
Gene: ENSMUSG00000055760
AA Change: V46G

Domain	Start	End	E-Value	Type
Pfam:Gemin6	1	166	9.7e-102	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156869

Meta Mutation Damage Score

0.4198

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	A	6: 149,329,113	S1219*	probably null	Het
Adam20	A	T	8: 40,795,764	I304F	probably damaging	Het
Adamts5	A	G	16: 85,869,912		probably null	Het
Akr1c6	A	G	13: 4,454,545	R132G	probably benign	Het
Ash1l	T	A	3: 88,984,876	M1354K	possibly damaging	Het
C6	T	C	15: 4,814,829	I911T	possibly damaging	Het
Calm2	T	C	17: 87,435,722		probably null	Het
Ccdc80	G	A	16: 45,118,165	R745Q	probably damaging	Het
Celsr3	T	C	9: 108,844,034	I2685T	possibly damaging	Het
Chkb	T	C	15: 89,429,585		probably benign	Het
Dennd5b	T	A	6: 149,041,513		probably null	Het
Dnah2	T	C	11: 69,524,383	Y175C	probably damaging	Het
Dnajc13	A	G	9: 104,192,114	S1154P	probably benign	Het
Ephb4	T	C	5: 137,361,142	S325P	probably damaging	Het
Fzd9	C	T	5: 135,250,860	R57H	probably damaging	Het
Gm9949	A	G	18: 62,180,516		probably benign	Het
Gnb4	A	T	3: 32,589,845	M188K	probably benign	Het
Hr	G	T	14: 70,556,627	G109V	probably damaging	Het
Lrp1b	A	G	2: 40,922,316	S2426P	probably damaging	Het
Map2k4	A	G	11: 65,719,587	W88R	probably damaging	Het
Map4	C	T	9: 110,037,783		probably benign	Het
Moxd2	C	T	6: 40,882,114		probably null	Het
Mrgprx1	T	C	7: 48,021,808	I64V	probably benign	Het
Olfr493	A	C	7: 108,346,105	I292S	probably damaging	Het
Padi2	T	C	4: 140,932,071	F229S	probably benign	Het
Pappa2	T	C	1: 158,838,602	N1136S	probably benign	Het
Pcdhb1	A	T	18: 37,265,758	N254I	possibly damaging	Het
Plcb2	A	G	2: 118,718,246	Y400H	probably damaging	Het
Plce1	A	C	19: 38,620,482	T412P	probably benign	Het
Prg4	T	C	1: 150,455,768		probably benign	Het
Prkdc	A	G	16: 15,768,637	N2510S	possibly damaging	Het
Psme4	T	A	11: 30,791,168	S107T	probably benign	Het
Rint1	G	T	5: 23,794,365	A51S	probably benign	Het
Rsad1	T	A	11: 94,543,689	R306S	probably damaging	Het
Sema3c	T	G	5: 17,717,070		probably null	Het
Sirt3	G	A	7: 140,865,015	T290I	probably damaging	Het
Skiv2l2	T	C	13: 112,913,181	S232G	probably null	Het
Spam1	G	A	6: 24,800,732	G490D	probably benign	Het
Speer4f2	C	T	5: 17,376,500	R147W	possibly damaging	Het
Sppl2c	A	T	11: 104,187,300	I309L	probably benign	Het
Srxn1	G	A	2: 152,105,879	V66M	probably damaging	Het
St3gal4	C	T	9: 35,053,456	R152H	probably damaging	Het
Sv2c	A	T	13: 95,978,083	F532I	probably damaging	Het
Tacc1	C	A	8: 25,164,415	K705N	probably null	Het
Tekt3	G	T	11: 63,094,793	S475I	probably damaging	Het
Tjap1	T	C	17: 46,260,175	T139A	probably damaging	Het
Tnfrsf8	T	A	4: 145,292,644	K207M	possibly damaging	Het
Tnn	T	C	1: 160,110,261	T965A	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trmt2a	A	G	16: 18,250,950	H270R	probably damaging	Het
Ttc21a	T	C	9: 119,950,971	L448P	probably benign	Het
Ttll4	C	A	1: 74,679,321	N110K	probably benign	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Ubr1	A	G	2: 120,868,302	Y1595H	possibly damaging	Het
Unc45a	G	A	7: 80,329,039	P621S	probably damaging	Het
Xrn2	A	T	2: 147,024,713		probably null	Het
Zcchc6	A	G	13: 59,800,657	Y215H	probably damaging	Het

Other mutations in Gemin6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Gemin6	APN	17	80227865	missense	possibly damaging	0.56
IGL02129:Gemin6	APN	17	80227926	missense	probably damaging	1.00
R0197:Gemin6	UTSW	17	80228095	missense	probably damaging	1.00
R0239:Gemin6	UTSW	17	80225710	missense	probably damaging	1.00
R0239:Gemin6	UTSW	17	80225710	missense	probably damaging	1.00
R0883:Gemin6	UTSW	17	80228095	missense	probably damaging	1.00
R1995:Gemin6	UTSW	17	80227985	missense	probably damaging	1.00
R4570:Gemin6	UTSW	17	80228069	nonsense	probably null
R4885:Gemin6	UTSW	17	80227898	missense	probably damaging	0.99
R5335:Gemin6	UTSW	17	80225755	missense	probably damaging	1.00
R5445:Gemin6	UTSW	17	80227749	missense	probably damaging	0.98
R5447:Gemin6	UTSW	17	80227749	missense	probably damaging	0.98
R5451:Gemin6	UTSW	17	80227749	missense	probably damaging	0.98
R5522:Gemin6	UTSW	17	80227749	missense	probably damaging	0.98
R5525:Gemin6	UTSW	17	80227749	missense	probably damaging	0.98
R5526:Gemin6	UTSW	17	80227749	missense	probably damaging	0.98
R7291:Gemin6	UTSW	17	80227775	missense	possibly damaging	0.61
R7576:Gemin6	UTSW	17	80225726	nonsense	probably null
R7845:Gemin6	UTSW	17	80225661	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCACATTTAAGACAGATGGCC -3'
(R):5'- CCATTTCTTGAGGCTGGTCC -3'

Sequencing Primer
(F):5'- AGGGGCCAAGCTTTTAATCC -3'
(R):5'- GGCTGGTCCTCTTCTCTTCCAG -3'

Posted On

2016-10-06