Mutagenetix > Incidental Mutation

Incidental Mutation 'R8345:Gemin4'

645186

Institutional Source

Beutler Lab

Gene Symbol

Gemin4

Ensembl Gene

ENSMUSG00000049396

Gene Name

gem nuclear organelle associated protein 4

Synonyms

MMRRC Submission

067801-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8345 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76101397-76108398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76101605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1052 (L1052P)

Ref Sequence

ENSEMBL: ENSMUSP00000099558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094014] [ENSMUST00000102500] [ENSMUST00000129853] [ENSMUST00000169560] [ENSMUST00000169701]

AlphaFold

Q6P6L6

Predicted Effect

probably benign
Transcript: ENSMUST00000094014

SMART Domains

Protein: ENSMUSP00000091553
Gene: ENSMUSG00000069808

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
TLC	33	249	7.47e-34	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102500
AA Change: L1052P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000129853

SMART Domains

Protein: ENSMUSP00000114936
Gene: ENSMUSG00000069808

Domain	Start	End	E-Value	Type
TLC	1	166	6.2e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169560

SMART Domains

Protein: ENSMUSP00000131151
Gene: ENSMUSG00000069808

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
TLC	33	217	4.92e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169701

SMART Domains

Protein: ENSMUSP00000131174
Gene: ENSMUSG00000017286

Domain	Start	End	E-Value	Type
Pfam:Glyoxalase_2	143	256	2.7e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele die before E5.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 123,508,284 (GRCm39)	V260A	probably benign	Het
Adgrv1	T	C	13: 81,251,505 (GRCm39)	D6204G	probably damaging	Het
Ago3	T	A	4: 126,270,721 (GRCm39)	K258*	probably null	Het
Aspm	T	G	1: 139,392,011 (GRCm39)	Y787*	probably null	Het
Atp8b5	A	C	4: 43,291,714 (GRCm39)	D29A	probably benign	Het
Bdh2	A	T	3: 135,001,013 (GRCm39)	I128F	probably damaging	Het
Bmper	T	A	9: 23,136,126 (GRCm39)	M69K	probably benign	Het
Ccdc7a	C	T	8: 129,525,245 (GRCm39)	M1415I	probably benign	Het
Ccpg1	G	A	9: 72,913,001 (GRCm39)	R179H	probably damaging	Het
Cdc23	G	A	18: 34,767,150 (GRCm39)	T564I	probably benign	Het
Cemip	T	A	7: 83,591,373 (GRCm39)		probably null	Het
Cfap65	C	T	1: 74,967,203 (GRCm39)	G249R	probably benign	Het
Clec2m	T	A	6: 129,302,593 (GRCm39)	N145Y	probably damaging	Het
Cpsf1	T	A	15: 76,485,690 (GRCm39)	T435S	probably benign	Het
Dennd5a	T	C	7: 109,504,477 (GRCm39)	T879A	possibly damaging	Het
Diaph3	G	A	14: 87,066,529 (GRCm39)	Q955*	probably null	Het
Disp2	G	A	2: 118,641,284 (GRCm39)	V298M	unknown	Het
Dnah1	C	A	14: 30,986,551 (GRCm39)	D3671Y	probably damaging	Het
Dnmt3a	T	C	12: 3,885,234 (GRCm39)	S13P	unknown	Het
Eci3	G	A	13: 35,132,164 (GRCm39)	T228I	probably damaging	Het
Ecm2	T	C	13: 49,674,276 (GRCm39)	L232P	probably benign	Het
Ednra	G	A	8: 78,415,813 (GRCm39)	R145C	probably damaging	Het
Faap100	G	T	11: 120,267,856 (GRCm39)	H306N	possibly damaging	Het
Fam8a1	T	A	13: 46,827,054 (GRCm39)	I275K	probably damaging	Het
Fat3	C	A	9: 15,910,570 (GRCm39)	V1811L	probably benign	Het
Fbn2	C	T	18: 58,191,503 (GRCm39)	C1540Y	probably damaging	Het
Fcgbpl1	G	A	7: 27,854,785 (GRCm39)	V1804M	probably damaging	Het
Ffar3	A	G	7: 30,554,789 (GRCm39)	L177P	probably damaging	Het
Fmnl1	A	G	11: 103,077,440 (GRCm39)	T267A	possibly damaging	Het
Fsip1	T	C	2: 118,070,952 (GRCm39)	E246G	probably damaging	Het
Gp2	C	T	7: 119,042,010 (GRCm39)	C505Y	probably benign	Het
Grm5	A	T	7: 87,723,746 (GRCm39)	I679F	probably damaging	Het
Hapln1	A	T	13: 89,732,902 (GRCm39)	D21V	probably benign	Het
Jak2	T	C	19: 29,262,270 (GRCm39)	S364P	probably damaging	Het
Kansl3	A	G	1: 36,387,897 (GRCm39)		probably null	Het
Kntc1	T	C	5: 123,924,993 (GRCm39)	L1102S	probably benign	Het
Mbd3l2	A	G	9: 18,355,779 (GRCm39)	I35V	probably benign	Het
Mdfic	G	T	6: 15,799,653 (GRCm39)	C260F	probably damaging	Het
Mroh2b	T	C	15: 4,973,808 (GRCm39)	S1109P	probably benign	Het
Myocd	A	T	11: 65,077,958 (GRCm39)	C612*	probably null	Het
Or4b13	A	T	2: 90,082,561 (GRCm39)	M257K	possibly damaging	Het
Or4c102	A	G	2: 88,422,435 (GRCm39)	M96V	probably benign	Het
Or4f17-ps1	T	A	2: 111,357,864 (GRCm39)	C86*	probably null	Het
Or52h7	T	A	7: 104,213,431 (GRCm39)	M1K	probably null	Het
Or5w22	A	T	2: 87,362,691 (GRCm39)	T105S	probably benign	Het
Or8k21	A	T	2: 86,145,451 (GRCm39)	Y60N	probably damaging	Het
Pard3	C	T	8: 128,050,549 (GRCm39)	R204W	probably damaging	Het
Per1	T	A	11: 68,998,382 (GRCm39)	N1031K	possibly damaging	Het
Plekhh3	A	G	11: 101,055,105 (GRCm39)	S583P	unknown	Het
Pramel12	C	T	4: 143,143,438 (GRCm39)	T68I	probably benign	Het
Prex2	T	A	1: 11,270,118 (GRCm39)	C1268S	possibly damaging	Het
Prpf6	T	C	2: 181,291,951 (GRCm39)	I756T	probably benign	Het
Pum2	T	C	12: 8,759,454 (GRCm39)	V98A	probably damaging	Het
Rad50	A	T	11: 53,574,968 (GRCm39)	S652T	probably benign	Het
Rfng	G	T	11: 120,674,901 (GRCm39)	P30T	unknown	Het
Rfx7	T	C	9: 72,524,973 (GRCm39)	I721T	probably benign	Het
Rpf1	G	T	3: 146,213,431 (GRCm39)	T240K	probably benign	Het
Ryr3	T	C	2: 112,483,270 (GRCm39)	N4189S	probably benign	Het
Samd15	G	C	12: 87,248,212 (GRCm39)	R299T	probably benign	Het
Scn3a	A	G	2: 65,329,335 (GRCm39)	M765T	possibly damaging	Het
Scn9a	G	A	2: 66,324,966 (GRCm39)	S1396L	probably damaging	Het
Sec24a	C	T	11: 51,634,605 (GRCm39)	R107Q	probably benign	Het
Sema4b	T	A	7: 79,870,567 (GRCm39)	V505E	probably damaging	Het
Siglec1	T	A	2: 130,920,498 (GRCm39)	T769S	possibly damaging	Het
Sit1	T	C	4: 43,483,168 (GRCm39)	E69G	possibly damaging	Het
Slc12a8	C	A	16: 33,371,321 (GRCm39)	D121E	probably benign	Het
Slc30a10	A	T	1: 185,187,664 (GRCm39)	Q135L	probably benign	Het
Suox	A	G	10: 128,507,200 (GRCm39)	V276A	probably benign	Het
Tbc1d9b	A	G	11: 50,040,659 (GRCm39)	D392G	probably damaging	Het
Tmed5	A	G	5: 108,273,823 (GRCm39)	W139R	probably damaging	Het
Tnks1bp1	C	T	2: 84,893,226 (GRCm39)	T389I	possibly damaging	Het
Vmn1r65	A	T	7: 6,011,256 (GRCm39)	I326K	probably benign	Het
Vmn2r43	A	G	7: 8,256,601 (GRCm39)	S421P	possibly damaging	Het
Vmn2r57	A	T	7: 41,076,968 (GRCm39)	N399K	possibly damaging	Het
Vmn2r90	T	A	17: 17,933,127 (GRCm39)	L229*	probably null	Het
Vwf	A	T	6: 125,656,265 (GRCm39)	D2610V		Het
Zfp646	C	T	7: 127,483,082 (GRCm39)	S1753L	probably benign	Het
Zfy2	C	A	Y: 2,107,096 (GRCm39)	V513F	possibly damaging	Het
Zranb2	A	T	3: 157,251,731 (GRCm39)	I317F	unknown	Het

Other mutations in Gemin4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Gemin4	APN	11	76,104,311 (GRCm39)	missense	probably benign	0.16
IGL01654:Gemin4	APN	11	76,104,224 (GRCm39)	missense	probably damaging	1.00
IGL01656:Gemin4	APN	11	76,104,636 (GRCm39)	missense	probably damaging	1.00
IGL02890:Gemin4	APN	11	76,102,090 (GRCm39)	missense	probably damaging	1.00
IGL02967:Gemin4	APN	11	76,103,067 (GRCm39)	missense	probably damaging	1.00
R0359:Gemin4	UTSW	11	76,102,988 (GRCm39)	missense	probably benign	0.02
R0413:Gemin4	UTSW	11	76,102,148 (GRCm39)	missense	probably benign	0.00
R1538:Gemin4	UTSW	11	76,101,987 (GRCm39)	missense	probably benign	0.00
R1632:Gemin4	UTSW	11	76,101,815 (GRCm39)	missense	probably benign	0.26
R1762:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R1783:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R1784:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R1785:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R1786:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R1835:Gemin4	UTSW	11	76,104,122 (GRCm39)	missense	possibly damaging	0.62
R2007:Gemin4	UTSW	11	76,103,444 (GRCm39)	missense	possibly damaging	0.78
R2117:Gemin4	UTSW	11	76,101,827 (GRCm39)	missense	possibly damaging	0.59
R2131:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R2133:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R2140:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R2141:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R2142:Gemin4	UTSW	11	76,101,876 (GRCm39)	missense	probably damaging	1.00
R3937:Gemin4	UTSW	11	76,103,714 (GRCm39)	missense	probably damaging	1.00
R4112:Gemin4	UTSW	11	76,103,645 (GRCm39)	missense	probably damaging	0.99
R4444:Gemin4	UTSW	11	76,102,917 (GRCm39)	missense	probably benign	0.00
R5502:Gemin4	UTSW	11	76,104,227 (GRCm39)	nonsense	probably null
R5702:Gemin4	UTSW	11	76,101,663 (GRCm39)	missense	probably benign	0.01
R5744:Gemin4	UTSW	11	76,102,991 (GRCm39)	missense	probably damaging	1.00
R6044:Gemin4	UTSW	11	76,103,760 (GRCm39)	missense	probably benign
R6924:Gemin4	UTSW	11	76,103,162 (GRCm39)	missense	probably damaging	1.00
R6931:Gemin4	UTSW	11	76,101,782 (GRCm39)	missense	probably damaging	0.99
R7278:Gemin4	UTSW	11	76,102,932 (GRCm39)	missense	probably damaging	0.98
R7286:Gemin4	UTSW	11	76,103,579 (GRCm39)	missense	probably damaging	0.96
R7288:Gemin4	UTSW	11	76,104,206 (GRCm39)	missense	possibly damaging	0.60
R7358:Gemin4	UTSW	11	76,104,278 (GRCm39)	nonsense	probably null
R7572:Gemin4	UTSW	11	76,104,408 (GRCm39)	missense	probably damaging	1.00
R8132:Gemin4	UTSW	11	76,103,739 (GRCm39)	missense	probably benign	0.25
R8695:Gemin4	UTSW	11	76,102,656 (GRCm39)	missense	probably damaging	1.00
R8902:Gemin4	UTSW	11	76,102,848 (GRCm39)	nonsense	probably null
R9233:Gemin4	UTSW	11	76,103,942 (GRCm39)	missense	possibly damaging	0.92
R9495:Gemin4	UTSW	11	76,101,749 (GRCm39)	missense	probably damaging	1.00
Z1176:Gemin4	UTSW	11	76,108,405 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCCCAAACTTCTGAGAAAGG -3'
(R):5'- AGGTCTGTGAACCCCTCTAC -3'

Sequencing Primer
(F):5'- GGCTCAAGATAAGATTAAACCCAAG -3'
(R):5'- CTACGTGCTGGCCTTGGAAATC -3'

Posted On

2020-09-02