Mutagenetix > Incidental Mutation

Incidental Mutation 'R9495:Gemin4'

717175

Institutional Source

Beutler Lab

Gene Symbol

Gemin4

Ensembl Gene

ENSMUSG00000049396

Gene Name

gem nuclear organelle associated protein 4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R9495 (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 76101749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1004 (L1004P)

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: L1004P

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: 99.7%
20x: 99.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	A	15: 79,019,842 (GRCm39)	D158V	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aadacl2fm1	T	C	3: 59,840,114 (GRCm39)	I62T	possibly damaging	Het
Acp5	G	A	9: 22,038,483 (GRCm39)	Q273*	probably null	Het
Apoa5	G	C	9: 46,181,944 (GRCm39)	R340P	probably damaging	Het
Atp2b1	T	A	10: 98,835,660 (GRCm39)	N468K	probably damaging	Het
Bltp3a	A	G	17: 28,112,414 (GRCm39)	D1201G	probably damaging	Het
Bphl	A	T	13: 34,234,312 (GRCm39)	I143L	probably benign	Het
Cd33	A	T	7: 43,182,150 (GRCm39)	H98Q	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cemip2	T	A	19: 21,779,249 (GRCm39)	V353D	probably damaging	Het
Cfap96	C	T	8: 46,409,458 (GRCm39)	S287N	probably damaging	Het
Colec10	A	G	15: 54,325,761 (GRCm39)	D197G	probably damaging	Het
Cpt1a	T	C	19: 3,433,795 (GRCm39)	M759T	probably benign	Het
Ctc1	A	G	11: 68,913,593 (GRCm39)	Y165C	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dnah2	T	C	11: 69,345,208 (GRCm39)	D2667G	possibly damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Erv3	C	A	2: 131,697,975 (GRCm39)	W128L	possibly damaging	Het
Fam186a	A	G	15: 99,844,766 (GRCm39)	S493P	unknown	Het
Fbn1	A	T	2: 125,160,984 (GRCm39)	N2185K	probably damaging	Het
Figla	A	C	6: 85,997,689 (GRCm39)	H139P	probably benign	Het
Gm11937	T	C	11: 99,500,646 (GRCm39)	T124A	unknown	Het
Gm17669	G	T	18: 67,695,682 (GRCm39)	V76L	probably benign	Het
H2ac21	A	G	3: 96,127,401 (GRCm39)	E57G	probably damaging	Het
Hcls1	A	T	16: 36,777,702 (GRCm39)	M274L	probably benign	Het
Il17rc	T	C	6: 113,449,741 (GRCm39)	S116P	probably damaging	Het
Krt79	G	A	15: 101,840,288 (GRCm39)	R303C	probably damaging	Het
Lamb2	C	T	9: 108,358,006 (GRCm39)	T149I	probably damaging	Het
Lrrc41	T	A	4: 115,932,806 (GRCm39)		probably null	Het
Mga	C	A	2: 119,781,676 (GRCm39)	T2234K	possibly damaging	Het
Mix23	A	G	16: 35,892,491 (GRCm39)	E12G	probably benign	Het
Muc6	T	A	7: 141,237,398 (GRCm39)	Q205L	probably damaging	Het
Nlrp9b	A	T	7: 19,760,462 (GRCm39)	K624N	possibly damaging	Het
Or1o4	G	T	17: 37,591,386 (GRCm39)		probably benign	Het
Or4d2	C	T	11: 87,784,082 (GRCm39)	V223M	probably benign	Het
Or6e1	T	C	14: 54,520,137 (GRCm39)	T72A	probably damaging	Het
Otud4	T	C	8: 80,400,087 (GRCm39)	S934P	probably damaging	Het
Pcdha12	G	T	18: 37,155,526 (GRCm39)	W748C	probably damaging	Het
Pdc	T	C	1: 150,208,919 (GRCm39)	I134T	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pkn1	C	T	8: 84,410,799 (GRCm39)	R276Q	possibly damaging	Het
Plin3	C	A	17: 56,587,824 (GRCm39)	G297V	probably benign	Het
Podn	C	T	4: 107,876,106 (GRCm39)	V517I	probably benign	Het
Pomk	T	C	8: 26,473,344 (GRCm39)	D203G	probably damaging	Het
Ppil4	A	G	10: 7,675,355 (GRCm39)	D168G	probably damaging	Het
Ptgr2	T	C	12: 84,354,647 (GRCm39)	I276T	probably benign	Het
Ptk7	T	A	17: 46,887,744 (GRCm39)	I563F	possibly damaging	Het
Rbm12	G	T	2: 155,939,738 (GRCm39)	T178K	unknown	Het
Sctr	T	C	1: 119,959,403 (GRCm39)		probably null	Het
Sh2b1	GGGACC	GGGACCGGCTCAGCCACGTGGACC	7: 126,066,744 (GRCm39)		probably benign	Het
Spata31e4	T	A	13: 50,855,465 (GRCm39)	S368T	possibly damaging	Het
Steap1	A	T	5: 5,786,458 (GRCm39)	D326E	probably damaging	Het
Stra6	G	A	9: 58,059,175 (GRCm39)	V513I	probably benign	Het
Tbx19	A	G	1: 164,966,546 (GRCm39)	S443P	unknown	Het
Tcea3	T	A	4: 135,991,885 (GRCm39)	C190S	probably damaging	Het
Tfr2	G	A	5: 137,572,701 (GRCm39)	V171I	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,815,122 (GRCm39)	V17A	probably benign	Het
Tmem87b	T	C	2: 128,660,353 (GRCm39)	L32P	probably damaging	Het
Tor1aip1	T	A	1: 155,906,177 (GRCm39)	D205V	probably damaging	Het
Trim33	T	C	3: 103,239,074 (GRCm39)	V684A	probably benign	Het
Triobp	C	T	15: 78,877,378 (GRCm39)	R1637C	probably damaging	Het
Ulbp1	C	A	10: 7,406,371 (GRCm39)	M196I	probably benign	Het
Vash1	G	A	12: 86,738,663 (GRCm39)	G370E	probably damaging	Het
Vmn2r23	A	G	6: 123,689,672 (GRCm39)	T183A	probably benign	Het
Vta1	A	G	10: 14,531,583 (GRCm39)	I264T	probably benign	Het
Zcchc8	A	T	5: 123,838,633 (GRCm39)	M635K	probably benign	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
R8345:Gemin4	UTSW	11	76,101,605 (GRCm39)	missense	probably damaging	1.00
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
Z1176:Gemin4	UTSW	11	76,108,405 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGGCATAGTTTTGTTCTGCCC -3'
(R):5'- GAGCCATGTGGTCAAACTCC -3'

Sequencing Primer
(F):5'- CCCTCAACAGGTCAGAAGTTGTTG -3'
(R):5'- GTGGTCAAACTCCTCTGTAACAG -3'

Posted On

2022-07-18