Mutagenetix > Incidental Mutation

Incidental Mutation 'R5451:Gemin6'

434609

Institutional Source

Beutler Lab

Gene Symbol

Gemin6

Ensembl Gene

ENSMUSG00000055760

Gene Name

gem nuclear organelle associated protein 6

Synonyms

MMRRC Submission

043016-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.770) question?

Stock #

R5451 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80224441-80228497 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 80227749 bp (GRCm38)

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]

AlphaFold

Q9CX53

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: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931417E11Rik	A	G	6: 73,468,867	V233A	probably benign	Het
Abca12	A	G	1: 71,294,917	F1142S	possibly damaging	Het
Abca5	G	A	11: 110,319,796	Q186*	probably null	Het
Calhm2	T	A	19: 47,132,875	Y285F	possibly damaging	Het
Casr	T	C	16: 36,509,908	T355A	probably damaging	Het
Clca1	T	C	3: 145,027,986	Y63C	probably damaging	Het
Cntnap5a	T	C	1: 115,685,143	S3P	probably benign	Het
Col27a1	G	A	4: 63,225,239	G388D	probably damaging	Het
Cwh43	T	C	5: 73,431,913	M447T	probably benign	Het
Dnah7b	G	A	1: 46,242,019	G2747S	possibly damaging	Het
Fam58b	T	A	11: 78,751,289	Q125L	possibly damaging	Het
Fbxo7	A	G	10: 86,029,037	S51G	probably benign	Het
Gabbr2	T	A	4: 46,684,294	Y660F	probably benign	Het
Galnt15	A	G	14: 32,029,911	E140G	probably benign	Het
Gm21964	A	T	8: 110,109,871	I160F	probably damaging	Het
Gsap	T	A	5: 21,217,447	L138Q	probably damaging	Het
Igflr1	A	G	7: 30,566,322	N57S	possibly damaging	Het
Ighv13-2	A	G	12: 114,357,853	F89L	probably damaging	Het
Irf2bpl	A	G	12: 86,882,072	V609A	probably benign	Het
Lingo1	T	G	9: 56,620,427	I293L	probably damaging	Het
Lrrc14	A	G	15: 76,713,973	D301G	probably benign	Het
Lsm2	T	C	17: 34,982,209		probably benign	Het
Map4	C	T	9: 110,037,783		probably benign	Het
Micall1	T	A	15: 79,126,904		probably null	Het
Mpp7	T	C	18: 7,442,855	D156G	probably null	Het
Mybbp1a	A	G	11: 72,448,113	D822G	probably damaging	Het
Naip2	A	G	13: 100,188,860	V180A	probably benign	Het
Nol10	T	A	12: 17,359,102	Y159*	probably null	Het
Nphp3	A	G	9: 104,042,022	T1290A	probably benign	Het
Olfr1107	T	C	2: 87,071,997	I46V	probably damaging	Het
Olfr1112	T	A	2: 87,192,452	V255E	probably damaging	Het
Olfr835	T	C	9: 19,035,491	Y123H	probably damaging	Het
Pcsk5	T	A	19: 17,463,356	Y1290F	possibly damaging	Het
Rab42	T	C	4: 132,302,516	N132D	probably benign	Het
Rfx3	T	G	19: 27,849,959	T76P	probably damaging	Het
Rps13-ps2	G	T	7: 88,530,828		noncoding transcript	Het
Slc12a3	A	G	8: 94,357,027	D894G	possibly damaging	Het
Slc25a15	G	A	8: 22,389,967	T54I	probably benign	Het
Slco1c1	A	T	6: 141,559,878	Q461L	probably benign	Het
Slfn5	T	G	11: 82,960,086	I403R	probably damaging	Het
Srxn1	G	A	2: 152,105,879	V66M	probably damaging	Het
Tbc1d32	T	A	10: 56,195,475	T318S	possibly damaging	Het
Tiam2	G	T	17: 3,428,996	R668M	probably damaging	Het
Trgj4	G	T	13: 19,342,165		probably benign	Het
Trim9	A	G	12: 70,346,829	S114P	probably benign	Het
Trp53i11	T	C	2: 93,199,855	L169P	possibly damaging	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Vmn1r190-ps	A	G	13: 22,144,731		noncoding transcript	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
R5452: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
R8842:Gemin6	UTSW	17	80225686	missense	possibly damaging	0.88
R8862:Gemin6	UTSW	17	80228003	missense	probably damaging	1.00
R9203:Gemin6	UTSW	17	80227808	missense	probably benign	0.00

Predicted Primers

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

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

Posted On

2016-10-06