Mutagenetix > Incidental Mutation

Incidental Mutation 'R9722:Gemin5'

730866

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 #

R9722 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58010828-58059365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58041418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 518 (E518G)

Ref Sequence

ENSEMBL: ENSMUSP00000131842 (fasta)

Gene Model

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

AlphaFold

Q8BX17

Predicted Effect

probably damaging
Transcript: ENSMUST00000035604
AA Change: E518G

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

SMART Domains

Protein: ENSMUSP00000036603
Gene: ENSMUSG00000037275
AA Change: E518G

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: E518G

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099772
Gene: ENSMUSG00000037275
AA Change: E518G

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: ENSMUST00000134953

SMART Domains

Protein: ENSMUSP00000116600
Gene: ENSMUSG00000037275

Domain	Start	End	E-Value	Type
Blast:WD40	2	29	7e-12	BLAST
WD40	33	82	1.99e0	SMART
WD40	85	125	5.15e-2	SMART
WD40	132	172	8.49e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172035
AA Change: E518G

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

SMART Domains

Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275
AA Change: E518G

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: 99.9%
10x: 99.7%
20x: 99.2%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,094,269 (GRCm39)	I52F	probably benign	Het
Abcc3	A	T	11: 94,250,072 (GRCm39)	L1017Q	probably damaging	Het
Antxr2	T	C	5: 98,096,186 (GRCm39)	D366G	possibly damaging	Het
Astn2	C	T	4: 65,831,978 (GRCm39)	V563I	probably benign	Het
Atrn	C	A	2: 130,803,536 (GRCm39)	D575E	probably damaging	Het
Baz1a	C	T	12: 54,946,882 (GRCm39)	D1228N	probably benign	Het
Canx	A	G	11: 50,195,301 (GRCm39)	S256P	probably benign	Het
Ccnt2	T	A	1: 127,729,925 (GRCm39)	D267E	probably damaging	Het
Cd209c	G	T	8: 3,995,905 (GRCm39)	R2S	probably benign	Het
Cyfip2	T	C	11: 46,087,135 (GRCm39)	T1252A	probably benign	Het
Dchs2	A	G	3: 83,261,301 (GRCm39)	Y2523C	probably benign	Het
Dmxl2	G	A	9: 54,323,892 (GRCm39)	P990L	probably benign	Het
Dnajc9	T	C	14: 20,438,279 (GRCm39)	I108V	probably benign	Het
Eif2d	T	C	1: 131,092,948 (GRCm39)		probably null	Het
Ephb2	T	C	4: 136,384,768 (GRCm39)	D881G	probably damaging	Het
Esr1	A	G	10: 4,951,215 (GRCm39)	N531S	probably benign	Het
Fbxo2	G	A	4: 148,248,883 (GRCm39)	R125H	probably damaging	Het
Foxred1	C	T	9: 35,117,300 (GRCm39)	S277N	possibly damaging	Het
Gm17655	A	G	5: 110,194,226 (GRCm39)	Y519H	probably benign	Het
Igkv4-57-1	A	T	6: 69,521,493 (GRCm39)	W70R	probably damaging	Het
Krtap4-13	A	G	11: 99,700,180 (GRCm39)	S160P	unknown	Het
Map3k3	A	G	11: 106,033,361 (GRCm39)	I205V	possibly damaging	Het
Map3k4	A	C	17: 12,490,523 (GRCm39)	F303V	probably benign	Het
Mpdz	T	C	4: 81,304,504 (GRCm39)	Q132R	probably damaging	Het
Myo10	T	A	15: 25,801,227 (GRCm39)	V1472E	probably damaging	Het
Nckap1	G	A	2: 80,401,568 (GRCm39)	Q39*	probably null	Het
Nog	A	G	11: 89,192,396 (GRCm39)	S151P	probably damaging	Het
Obox6	G	A	7: 15,568,831 (GRCm39)	S15F	probably benign	Het
Odf2	A	G	2: 29,813,594 (GRCm39)	H647R	possibly damaging	Het
Or6c74	A	G	10: 129,869,500 (GRCm39)	R2G	probably benign	Het
Pcdhga11	T	C	18: 37,890,398 (GRCm39)	S469P	possibly damaging	Het
Pcnx4	T	C	12: 72,603,039 (GRCm39)	Y434H	probably damaging	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Pglyrp3	A	G	3: 91,938,695 (GRCm39)	K290R	possibly damaging	Het
Phactr3	G	A	2: 177,898,043 (GRCm39)	E86K	probably damaging	Het
Piezo1	A	C	8: 123,225,497 (GRCm39)	L530R		Het
Pigg	A	T	5: 108,495,767 (GRCm39)	I935F	possibly damaging	Het
Pofut2	T	C	10: 77,102,759 (GRCm39)	S282P	possibly damaging	Het
Ppfia1	A	G	7: 144,071,402 (GRCm39)	S337P	probably benign	Het
Sdr16c5	A	T	4: 4,005,595 (GRCm39)	D246E	probably benign	Het
Sgsm1	T	A	5: 113,428,207 (GRCm39)	H327L	possibly damaging	Het
Slc39a4	A	G	15: 76,500,211 (GRCm39)	I113T	possibly damaging	Het
Slc5a7	A	G	17: 54,603,985 (GRCm39)		probably null	Het
Snx11	A	G	11: 96,661,925 (GRCm39)	S86P	probably benign	Het
Srm	T	A	4: 148,676,245 (GRCm39)		probably null	Het
Tas2r126	T	C	6: 42,412,082 (GRCm39)	I205T	possibly damaging	Het
Tek	T	G	4: 94,692,539 (GRCm39)	W216G	possibly damaging	Het
Tenm3	A	T	8: 48,753,849 (GRCm39)	S851R	probably benign	Het
Tnip2	A	G	5: 34,654,212 (GRCm39)	V288A	probably benign	Het
Tpx2	T	A	2: 152,733,476 (GRCm39)		probably null	Het
Trim33	C	A	3: 103,261,146 (GRCm39)	T1115K	possibly damaging	Het
Tspan13	T	A	12: 36,074,017 (GRCm39)	I40F	probably damaging	Het
Ube2v2	T	C	16: 15,394,899 (GRCm39)	I91V	probably benign	Het
Vmn1r22	A	T	6: 57,877,631 (GRCm39)	F115L	probably benign	Het
Vmn2r7	G	A	3: 64,598,407 (GRCm39)	P717S	probably damaging	Het
Zan	T	C	5: 137,387,324 (GRCm39)	T4910A	unknown	Het
Zfp599	T	A	9: 22,160,741 (GRCm39)	T475S	probably damaging	Het
Zfp638	T	A	6: 83,923,301 (GRCm39)	F700I	probably damaging	Het
Zfp985	A	C	4: 147,667,618 (GRCm39)	K162T	possibly damaging	Het

Other mutations in Gemin5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Gemin5	APN	11	58,054,643 (GRCm39)	missense	probably damaging	1.00
IGL00540:Gemin5	APN	11	58,051,644 (GRCm39)	missense	probably damaging	1.00
IGL01521:Gemin5	APN	11	58,025,744 (GRCm39)	splice site	probably benign
IGL02190:Gemin5	APN	11	58,025,668 (GRCm39)	missense	probably damaging	1.00
IGL02274:Gemin5	APN	11	58,047,621 (GRCm39)	missense	possibly damaging	0.80
IGL02494:Gemin5	APN	11	58,012,583 (GRCm39)	missense	probably benign	0.12
IGL02549:Gemin5	APN	11	58,025,629 (GRCm39)	missense	probably damaging	1.00
IGL02740:Gemin5	APN	11	58,042,390 (GRCm39)	missense	probably damaging	1.00
IGL02815:Gemin5	APN	11	58,037,235 (GRCm39)	missense	probably damaging	1.00
IGL02823:Gemin5	APN	11	58,058,531 (GRCm39)	splice site	probably benign
IGL02939:Gemin5	APN	11	58,047,556 (GRCm39)	missense	probably damaging	1.00
Landscape	UTSW	11	58,054,730 (GRCm39)	missense	probably benign	0.16
R0101:Gemin5	UTSW	11	58,036,322 (GRCm39)	missense	probably damaging	1.00
R0479:Gemin5	UTSW	11	58,030,377 (GRCm39)	missense	probably benign	0.00
R1481:Gemin5	UTSW	11	58,032,480 (GRCm39)	missense	probably damaging	1.00
R1642:Gemin5	UTSW	11	58,029,906 (GRCm39)	missense	probably damaging	1.00
R1648:Gemin5	UTSW	11	58,038,805 (GRCm39)	nonsense	probably null
R1980:Gemin5	UTSW	11	58,027,743 (GRCm39)	missense	probably damaging	1.00
R3079:Gemin5	UTSW	11	58,036,345 (GRCm39)	missense	probably damaging	1.00
R3418:Gemin5	UTSW	11	58,047,454 (GRCm39)	splice site	probably null
R4260:Gemin5	UTSW	11	58,059,185 (GRCm39)	missense	probably damaging	0.99
R4396:Gemin5	UTSW	11	58,030,375 (GRCm39)	missense	probably benign	0.05
R4902:Gemin5	UTSW	11	58,055,103 (GRCm39)	missense	probably benign	0.18
R5178:Gemin5	UTSW	11	58,037,344 (GRCm39)	missense	probably benign	0.01
R5296:Gemin5	UTSW	11	58,020,887 (GRCm39)	missense	probably damaging	1.00
R5350:Gemin5	UTSW	11	58,032,412 (GRCm39)	critical splice donor site	probably null
R5426:Gemin5	UTSW	11	58,016,113 (GRCm39)	missense	probably benign	0.00
R5494:Gemin5	UTSW	11	58,021,526 (GRCm39)	missense	probably damaging	1.00
R5744:Gemin5	UTSW	11	58,046,009 (GRCm39)	missense	possibly damaging	0.88
R5889:Gemin5	UTSW	11	58,013,181 (GRCm39)	missense	possibly damaging	0.76
R5984:Gemin5	UTSW	11	58,047,587 (GRCm39)	missense	probably damaging	1.00
R6844:Gemin5	UTSW	11	58,054,730 (GRCm39)	missense	probably benign	0.16
R6934:Gemin5	UTSW	11	58,038,738 (GRCm39)	missense	probably damaging	1.00
R6999:Gemin5	UTSW	11	58,015,947 (GRCm39)	missense	probably benign	0.00
R7015:Gemin5	UTSW	11	58,047,566 (GRCm39)	missense	probably damaging	1.00
R7144:Gemin5	UTSW	11	58,032,489 (GRCm39)	missense	probably benign	0.30
R7176:Gemin5	UTSW	11	58,056,828 (GRCm39)	missense	probably benign	0.05
R7540:Gemin5	UTSW	11	58,021,228 (GRCm39)	splice site	probably null
R7670:Gemin5	UTSW	11	58,038,754 (GRCm39)	missense	probably benign	0.01
R7717:Gemin5	UTSW	11	58,042,356 (GRCm39)	critical splice donor site	probably null
R7791:Gemin5	UTSW	11	58,015,819 (GRCm39)	missense	probably benign	0.04
R7981:Gemin5	UTSW	11	58,036,231 (GRCm39)	missense	probably damaging	1.00
R8050:Gemin5	UTSW	11	58,019,686 (GRCm39)	missense	probably benign	0.00
R8307:Gemin5	UTSW	11	58,042,420 (GRCm39)	missense	probably damaging	1.00
R8353:Gemin5	UTSW	11	58,016,065 (GRCm39)	missense	probably benign	0.00
R8371:Gemin5	UTSW	11	58,017,384 (GRCm39)	missense	probably benign
R8453:Gemin5	UTSW	11	58,016,065 (GRCm39)	missense	probably benign	0.00
R9181:Gemin5	UTSW	11	58,021,035 (GRCm39)	missense	probably benign	0.00
R9294:Gemin5	UTSW	11	58,028,574 (GRCm39)	missense	probably benign	0.08
R9400:Gemin5	UTSW	11	58,028,541 (GRCm39)	missense	probably damaging	1.00
R9672:Gemin5	UTSW	11	58,058,585 (GRCm39)	missense	probably benign	0.00
R9790:Gemin5	UTSW	11	58,020,846 (GRCm39)	nonsense	probably null
R9791:Gemin5	UTSW	11	58,020,846 (GRCm39)	nonsense	probably null
X0066:Gemin5	UTSW	11	58,042,361 (GRCm39)	missense	probably benign	0.02
Z1186:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1186:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1186:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1186:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1186:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1186:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1187:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1187:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1187:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1187:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1187:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1187:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1188:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1188:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1188:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1188:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1188:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1188:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1189:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1189:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1189:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1189:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1189:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1189:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1190:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1190:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1190:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1190:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1190:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1190:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1191:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1191:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1191:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1191:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1191:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1191:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1192:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1192:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1192:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1192:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1192:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1192:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAAGGGATAGCAGGCAACCC -3'
(R):5'- ATGCTGGATCACTTCCCAC -3'

Sequencing Primer
(F):5'- GATAGCAGGCAACCCACAGAC -3'
(R):5'- CAGTTTGATTAGCACAGCCG -3'

Posted On

2022-10-06