Mutagenetix > Incidental Mutation

Incidental Mutation 'R7670:Gemin5'

592105

Institutional Source

Beutler Lab

Gene Symbol

Gemin5

Ensembl Gene

ENSMUSG00000037275

Gene Name

gem nuclear organelle associated protein 5

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7670 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58120002-58168539 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58147928 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 585 (V585A)

Ref Sequence

ENSEMBL: ENSMUSP00000131842 (fasta)

Gene Model

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

AlphaFold

Q8BX17

Predicted Effect

probably benign
Transcript: ENSMUST00000035604
AA Change: V585A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000036603
Gene: ENSMUSG00000037275
AA Change: V585A

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 benign
Transcript: ENSMUST00000102711
AA Change: V585A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099772
Gene: ENSMUSG00000037275
AA Change: V585A

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

probably benign
Transcript: ENSMUST00000172035
AA Change: V585A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275
AA Change: V585A

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
Adam26a	T	A	8: 43,570,153	H100L	probably benign	Het
Adgrf2	T	C	17: 42,711,372	N187S	probably damaging	Het
Adipoq	T	A	16: 23,157,582	H244Q	probably damaging	Het
Arhgap40	T	A	2: 158,531,925	S209T	probably benign	Het
Arrdc3	C	T	13: 80,889,093	L123F	probably damaging	Het
Aspscr1	A	G	11: 120,689,039	N212D	probably benign	Het
Ccr9	A	T	9: 123,779,306	S18C	probably damaging	Het
Cdc42bpa	T	A	1: 180,065,081	V270D	probably damaging	Het
Clic4	A	G	4: 135,217,205	Y220H	probably damaging	Het
Cntln	A	C	4: 84,979,340	H388P	possibly damaging	Het
Col12a1	A	G	9: 79,631,643	V2457A	probably damaging	Het
Ctsk	A	G	3: 95,501,614	N103D	probably benign	Het
Ddx60	T	C	8: 61,975,792	S779P	probably damaging	Het
Dnah5	T	A	15: 28,246,232		probably null	Het
Dnah7b	T	A	1: 46,109,302	D279E	probably benign	Het
Fam117a	A	G	11: 95,378,834	N308S	probably benign	Het
Fasn	A	G	11: 120,813,419	V1419A	probably damaging	Het
Fhad1	A	G	4: 141,951,491	S625P	probably benign	Het
Gm5145	C	A	17: 20,570,384	P8Q	probably benign	Het
Gm8332	T	C	12: 88,249,754	N116S	probably benign	Het
Herc1	C	A	9: 66,416,347	T1381K	probably damaging	Het
Herc6	T	C	6: 57,660,122	I824T	probably damaging	Het
Klrb1	C	T	6: 128,710,087	V161I	probably benign	Het
Krtap31-1	A	G	11: 99,908,432	N154D	not run	Het
Lcp1	A	T	14: 75,200,431	I94F	probably benign	Het
Lin7a	A	T	10: 107,382,691	Q154L	possibly damaging	Het
Lnx1	T	C	5: 74,685,690	Y33C	probably damaging	Het
Myo5b	T	C	18: 74,701,446	V859A	probably benign	Het
Ncbp1	A	G	4: 46,170,015	Q696R	probably damaging	Het
Neurl1b	C	G	17: 26,438,746	H219Q	probably benign	Het
Nme8	T	C	13: 19,658,829	E392G	probably benign	Het
Nufip1	CAAAACAGAAAACAGAAAAC	CAAAACAGAAAACAGAAAACAGAAAAC	14: 76,111,974		probably null	Het
Nuggc	A	G	14: 65,613,526	I298V	probably damaging	Het
Nup155	A	C	15: 8,153,696	K1247Q	probably damaging	Het
Olfr368	A	T	2: 37,331,759	E4V	probably benign	Het
Olfr403	A	G	11: 74,196,207	K235E	probably damaging	Het
Otud4	T	A	8: 79,655,864		probably null	Het
Pcdhb18	T	C	18: 37,491,696	V693A	probably damaging	Het
Pcnx3	A	G	19: 5,677,182	F1108L	probably benign	Het
Prkca	A	T	11: 108,014,344	N189K	probably damaging	Het
Rbm24	A	G	13: 46,429,207	I201V	probably benign	Het
Reep6	T	C	10: 80,333,793	L105P	probably damaging	Het
Retreg1	T	C	15: 25,941,040		probably benign	Het
Rev3l	C	T	10: 39,836,722	T2382I	probably benign	Het
Rnf31	A	G	14: 55,594,361	N230S	probably benign	Het
Rreb1	T	C	13: 37,931,572	L969P	probably benign	Het
Rsph4a	T	A	10: 33,909,033	N313K	probably damaging	Het
Serpina3f	T	A	12: 104,217,266	L129Q	probably damaging	Het
Slc9a2	T	A	1: 40,718,997	V232D	probably damaging	Het
Stmn2	T	C	3: 8,554,865	L121P	probably damaging	Het
Svep1	C	T	4: 58,097,424	G1373D	probably damaging	Het
Tmem206	A	G	1: 191,340,868	N162S	probably benign	Het
Tns1	C	A	1: 73,952,477	R1014L	possibly damaging	Het
Top2b	T	C	14: 16,416,620	S1127P	possibly damaging	Het
Txndc16	A	T	14: 45,135,867	C768*	probably null	Het
Ubl7	A	T	9: 57,929,769	E354D	probably benign	Het
Ush2a	T	C	1: 188,784,708	L3205P	possibly damaging	Het
Xirp2	A	G	2: 67,510,573	T1053A	possibly damaging	Het
Zbtb21	A	G	16: 97,951,877	L402P	probably damaging	Het
Zfp27	T	A	7: 29,894,796	K581N	possibly damaging	Het
Zfp62	A	T	11: 49,215,076		probably benign	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
IGL02190:Gemin5	APN	11	58134842	missense	probably damaging	1.00
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	splice site	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	splice site	probably null
R7717:Gemin5	UTSW	11	58151530	critical splice donor site	probably null
R7791:Gemin5	UTSW	11	58124993	missense	probably benign	0.04
R7981:Gemin5	UTSW	11	58145405	missense	probably damaging	1.00
R8050:Gemin5	UTSW	11	58128860	missense	probably benign	0.00
R8307:Gemin5	UTSW	11	58151594	missense	probably damaging	1.00
R8353:Gemin5	UTSW	11	58125239	missense	probably benign	0.00
R8371:Gemin5	UTSW	11	58126558	missense	probably benign
R8453:Gemin5	UTSW	11	58125239	missense	probably benign	0.00
R9181:Gemin5	UTSW	11	58130209	missense	probably benign	0.00
R9294:Gemin5	UTSW	11	58137748	missense	probably benign	0.08
R9400:Gemin5	UTSW	11	58137715	missense	probably damaging	1.00
R9672:Gemin5	UTSW	11	58167759	missense	probably benign	0.00
R9722:Gemin5	UTSW	11	58150592	missense	probably damaging	1.00
R9790:Gemin5	UTSW	11	58130020	nonsense	probably null
R9791:Gemin5	UTSW	11	58130020	nonsense	probably null
X0066:Gemin5	UTSW	11	58151535	missense	probably benign	0.02
Z1186:Gemin5	UTSW	11	58122289	missense	probably benign	0.03
Z1186:Gemin5	UTSW	11	58125218	missense	probably benign	0.00
Z1186:Gemin5	UTSW	11	58130071	missense	probably benign
Z1186:Gemin5	UTSW	11	58139510	missense	probably benign
Z1186:Gemin5	UTSW	11	58139575	missense	probably benign
Z1186:Gemin5	UTSW	11	58146519	missense	probably benign	0.03
Z1187:Gemin5	UTSW	11	58122289	missense	probably benign	0.03
Z1187:Gemin5	UTSW	11	58125218	missense	probably benign	0.00
Z1187:Gemin5	UTSW	11	58130071	missense	probably benign
Z1187:Gemin5	UTSW	11	58139510	missense	probably benign
Z1187:Gemin5	UTSW	11	58139575	missense	probably benign
Z1187:Gemin5	UTSW	11	58146519	missense	probably benign	0.03
Z1188:Gemin5	UTSW	11	58122289	missense	probably benign	0.03
Z1188:Gemin5	UTSW	11	58125218	missense	probably benign	0.00
Z1188:Gemin5	UTSW	11	58130071	missense	probably benign
Z1188:Gemin5	UTSW	11	58139510	missense	probably benign
Z1188:Gemin5	UTSW	11	58139575	missense	probably benign
Z1188:Gemin5	UTSW	11	58146519	missense	probably benign	0.03
Z1189:Gemin5	UTSW	11	58122289	missense	probably benign	0.03
Z1189:Gemin5	UTSW	11	58125218	missense	probably benign	0.00
Z1189:Gemin5	UTSW	11	58130071	missense	probably benign
Z1189:Gemin5	UTSW	11	58139510	missense	probably benign
Z1189:Gemin5	UTSW	11	58139575	missense	probably benign
Z1189:Gemin5	UTSW	11	58146519	missense	probably benign	0.03
Z1190:Gemin5	UTSW	11	58122289	missense	probably benign	0.03
Z1190:Gemin5	UTSW	11	58125218	missense	probably benign	0.00
Z1190:Gemin5	UTSW	11	58130071	missense	probably benign
Z1190:Gemin5	UTSW	11	58139510	missense	probably benign
Z1190:Gemin5	UTSW	11	58139575	missense	probably benign
Z1190:Gemin5	UTSW	11	58146519	missense	probably benign	0.03
Z1191:Gemin5	UTSW	11	58122289	missense	probably benign	0.03
Z1191:Gemin5	UTSW	11	58125218	missense	probably benign	0.00
Z1191:Gemin5	UTSW	11	58130071	missense	probably benign
Z1191:Gemin5	UTSW	11	58139510	missense	probably benign
Z1191:Gemin5	UTSW	11	58139575	missense	probably benign
Z1191:Gemin5	UTSW	11	58146519	missense	probably benign	0.03
Z1192:Gemin5	UTSW	11	58122289	missense	probably benign	0.03
Z1192:Gemin5	UTSW	11	58125218	missense	probably benign	0.00
Z1192:Gemin5	UTSW	11	58130071	missense	probably benign
Z1192:Gemin5	UTSW	11	58139510	missense	probably benign
Z1192:Gemin5	UTSW	11	58139575	missense	probably benign
Z1192:Gemin5	UTSW	11	58146519	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AAAGGTTCTTTCCCTGGGCAC -3'
(R):5'- TATCTGACCTTCCTGGGCTG -3'

Sequencing Primer
(F):5'- CACAGGACTGCAGATTATAGTTG -3'
(R):5'- CTTCCTGGGCTGGGAGAAG -3'

Posted On

2019-11-12