Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02190:Gemin5'

283843

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gemin5

Ensembl Gene

ENSMUSG00000037275

Gene Name

gem nuclear organelle associated protein 5

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02190

Quality Score

Status

Chromosome

Chromosomal Location

58120002-58168539 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 58134842 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 977 (V977G)

Ref Sequence

ENSEMBL: ENSMUSP00000099772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035604] [ENSMUST00000102711] [ENSMUST00000172035]

Predicted Effect

probably damaging
Transcript: ENSMUST00000035604
AA Change: V978G

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

SMART Domains

Protein: ENSMUSP00000036603
Gene: ENSMUSG00000037275
AA Change: V978G

Domain	Start	End	E-Value	Type
WD40	53	95	1.47e-6	SMART
WD40	98	138	6.19e-1	SMART
WD40	141	180	1.54e0	SMART
WD40	184	255	2.45e-8	SMART
WD40	280	312	1.42e2	SMART
WD40	316	365	1.99e0	SMART
WD40	368	408	5.15e-2	SMART
WD40	415	455	8.49e-3	SMART
WD40	460	511	8.84e1	SMART
WD40	529	564	4.28e0	SMART
WD40	567	613	2.24e-2	SMART
WD40	628	668	2.2e-10	SMART
WD40	671	711	2.31e-4	SMART
low complexity region	731	754	N/A	INTRINSIC
low complexity region	788	804	N/A	INTRINSIC
low complexity region	813	844	N/A	INTRINSIC
low complexity region	1064	1084	N/A	INTRINSIC
low complexity region	1117	1132	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102711
AA Change: V977G

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

SMART Domains

Protein: ENSMUSP00000099772
Gene: ENSMUSG00000037275
AA Change: V977G

Domain	Start	End	E-Value	Type
WD40	53	95	1.47e-6	SMART
WD40	98	138	6.19e-1	SMART
WD40	141	180	1.54e0	SMART
WD40	184	255	2.45e-8	SMART
WD40	280	312	1.42e2	SMART
WD40	316	365	1.99e0	SMART
WD40	368	408	5.15e-2	SMART
WD40	415	455	8.49e-3	SMART
WD40	460	511	8.84e1	SMART
WD40	529	564	4.28e0	SMART
WD40	567	613	2.24e-2	SMART
WD40	628	668	2.2e-10	SMART
WD40	671	711	2.31e-4	SMART
low complexity region	731	754	N/A	INTRINSIC
low complexity region	788	804	N/A	INTRINSIC
low complexity region	813	844	N/A	INTRINSIC
low complexity region	1063	1083	N/A	INTRINSIC
low complexity region	1116	1131	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134733

Predicted Effect

probably damaging
Transcript: ENSMUST00000172035
AA Change: V978G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275
AA Change: V978G

Domain	Start	End	E-Value	Type
WD40	53	95	1.47e-6	SMART
WD40	98	138	6.19e-1	SMART
WD40	141	180	1.54e0	SMART
WD40	184	255	2.45e-8	SMART
WD40	280	312	1.42e2	SMART
WD40	316	365	1.99e0	SMART
WD40	368	408	5.15e-2	SMART
WD40	415	455	8.49e-3	SMART
WD40	460	511	8.84e1	SMART
WD40	529	564	4.28e0	SMART
WD40	567	613	2.24e-2	SMART
WD40	628	668	2.2e-10	SMART
WD40	671	711	2.31e-4	SMART
low complexity region	731	754	N/A	INTRINSIC
low complexity region	788	804	N/A	INTRINSIC
low complexity region	813	844	N/A	INTRINSIC
low complexity region	1064	1084	N/A	INTRINSIC
low complexity region	1117	1132	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,140,724		probably benign	Het
AI314180	A	T	4: 58,800,190	S1838R	probably benign	Het
Ano1	T	C	7: 144,618,883	E521G	probably benign	Het
As3mt	A	T	19: 46,719,945	I224F	probably benign	Het
Atp5j2	C	A	5: 145,183,832		probably benign	Het
Cacna1h	A	G	17: 25,433,026	V48A	probably benign	Het
Ctu2	T	C	8: 122,481,658		probably benign	Het
Efcab5	T	C	11: 77,121,314	R841G	probably benign	Het
Erbb3	A	T	10: 128,571,010		probably null	Het
Fkbp15	G	T	4: 62,304,822	P947T	possibly damaging	Het
Gabpb1	A	G	2: 126,653,549		probably benign	Het
Gcn1l1	G	T	5: 115,614,124	V2100L	probably damaging	Het
Gpr107	T	A	2: 31,178,320	Y265N	probably damaging	Het
Gpx8	T	C	13: 113,043,309		probably benign	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Ift172	C	T	5: 31,254,458	V1587I	possibly damaging	Het
Lrrc45	A	G	11: 120,718,508	T398A	probably damaging	Het
Mmrn1	G	T	6: 60,987,193	V1059L	probably benign	Het
Morn5	A	G	2: 36,079,515	D147G	probably benign	Het
Mphosph9	T	C	5: 124,265,425	R847G	possibly damaging	Het
Nutm1	C	T	2: 112,249,406	W721*	probably null	Het
Olfr1136	A	G	2: 87,693,063	M273T	probably benign	Het
Olfr347	T	C	2: 36,734,579	L86P	probably benign	Het
Olfr531	T	C	7: 140,400,120		probably benign	Het
Rgl3	A	G	9: 21,981,708	F227L	probably benign	Het
Ropn1l	G	T	15: 31,443,341	L182I	probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Scgb1a1	A	T	19: 9,087,867	L12Q	probably damaging	Het
Scp2	A	G	4: 108,087,128	S237P	probably benign	Het
Skint5	T	C	4: 113,940,765	Q207R	possibly damaging	Het
Slc16a5	A	G	11: 115,462,609	M1V	probably null	Het
Tox2	G	A	2: 163,323,006	R522H	possibly damaging	Het
Trip12	A	T	1: 84,766,070	N505K	probably damaging	Het
Tuba1c	G	A	15: 99,037,989	D444N	unknown	Het
Vmn1r174	A	G	7: 23,754,827	E306G	unknown	Het
Vmn2r111	A	T	17: 22,570,773	F417L	probably benign	Het
Vmn2r15	A	T	5: 109,293,374	M206K	probably damaging	Het
Vmn2r95	G	T	17: 18,451,776	A592S	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Gemin5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Gemin5	APN	11	58163817	missense	probably damaging	1.00
IGL00540:Gemin5	APN	11	58160818	missense	probably damaging	1.00
IGL01521:Gemin5	APN	11	58134918	splice site	probably benign
IGL02274:Gemin5	APN	11	58156795	missense	possibly damaging	0.80
IGL02494:Gemin5	APN	11	58121757	missense	probably benign	0.12
IGL02549:Gemin5	APN	11	58134803	missense	probably damaging	1.00
IGL02740:Gemin5	APN	11	58151564	missense	probably damaging	1.00
IGL02815:Gemin5	APN	11	58146409	missense	probably damaging	1.00
IGL02823:Gemin5	APN	11	58167705	splice site	probably benign
IGL02939:Gemin5	APN	11	58156730	missense	probably damaging	1.00
Landscape	UTSW	11	58163904	missense	probably benign	0.16
R0101:Gemin5	UTSW	11	58145496	missense	probably damaging	1.00
R0479:Gemin5	UTSW	11	58139551	missense	probably benign	0.00
R1481:Gemin5	UTSW	11	58141654	missense	probably damaging	1.00
R1642:Gemin5	UTSW	11	58139080	missense	probably damaging	1.00
R1648:Gemin5	UTSW	11	58147979	nonsense	probably null
R1980:Gemin5	UTSW	11	58136917	missense	probably damaging	1.00
R3079:Gemin5	UTSW	11	58145519	missense	probably damaging	1.00
R3418:Gemin5	UTSW	11	58156628	intron	probably null
R4260:Gemin5	UTSW	11	58168359	missense	probably damaging	0.99
R4396:Gemin5	UTSW	11	58139549	missense	probably benign	0.05
R4902:Gemin5	UTSW	11	58164277	missense	probably benign	0.18
R5178:Gemin5	UTSW	11	58146518	missense	probably benign	0.01
R5296:Gemin5	UTSW	11	58130061	missense	probably damaging	1.00
R5350:Gemin5	UTSW	11	58141586	critical splice donor site	probably null
R5426:Gemin5	UTSW	11	58125287	missense	probably benign	0.00
R5494:Gemin5	UTSW	11	58130700	missense	probably damaging	1.00
R5744:Gemin5	UTSW	11	58155183	missense	possibly damaging	0.88
R5889:Gemin5	UTSW	11	58122355	missense	possibly damaging	0.76
R5984:Gemin5	UTSW	11	58156761	missense	probably damaging	1.00
R6844:Gemin5	UTSW	11	58163904	missense	probably benign	0.16
R6934:Gemin5	UTSW	11	58147912	missense	probably damaging	1.00
R6999:Gemin5	UTSW	11	58125121	missense	probably benign	0.00
R7015:Gemin5	UTSW	11	58156740	missense	probably damaging	1.00
R7144:Gemin5	UTSW	11	58141663	missense	probably benign	0.30
R7176:Gemin5	UTSW	11	58166002	missense	probably benign	0.05
R7540:Gemin5	UTSW	11	58130402	intron	probably null
R7670:Gemin5	UTSW	11	58147928	missense	probably benign	0.01
R7717:Gemin5	UTSW	11	58151530	critical splice donor site	probably null
R7791:Gemin5	UTSW	11	58124993	missense	probably benign	0.04
R8050:Gemin5	UTSW	11	58128860	missense	probably benign	0.00
X0066:Gemin5	UTSW	11	58151535	missense	probably benign	0.02

Posted On

2015-04-16