Mutagenetix > Incidental Mutation

Incidental Mutation 'R5984:Gemin5'

481565

Institutional Source

Beutler Lab

Gene Symbol

Gemin5

Ensembl Gene

ENSMUSG00000037275

Gene Name

gem nuclear organelle associated protein 5

Synonyms

MMRRC Submission

043251-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5984 (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 58047587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 329 (E329G)

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: E329G

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000036603
Gene: ENSMUSG00000037275
AA Change: E329G

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: E329G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099772
Gene: ENSMUSG00000037275
AA Change: E329G

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

unknown
Transcript: ENSMUST00000134953
AA Change: E45G

SMART Domains

Protein: ENSMUSP00000116600
Gene: ENSMUSG00000037275
AA Change: E45G

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: E329G

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

SMART Domains

Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275
AA Change: E329G

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: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,439,165 (GRCm39)	L130F	probably benign	Het
Alox12	T	C	11: 70,137,881 (GRCm39)	T420A	possibly damaging	Het
Ano5	T	C	7: 51,243,412 (GRCm39)	I795T	probably damaging	Het
Atpsckmt	C	T	15: 31,617,065 (GRCm39)	R99*	probably null	Het
Crlf2	G	A	5: 109,703,469 (GRCm39)	P92L	probably damaging	Het
Dgat1	T	C	15: 76,386,458 (GRCm39)	Y492C	probably damaging	Het
Dna2	G	C	10: 62,798,285 (GRCm39)		probably null	Het
Dst	A	G	1: 34,211,344 (GRCm39)	H982R	probably benign	Het
F13b	A	G	1: 139,435,950 (GRCm39)	D252G	probably damaging	Het
Fgfr3	A	T	5: 33,887,049 (GRCm39)	E151V	probably damaging	Het
Gabpb1	T	C	2: 126,488,573 (GRCm39)	T264A	probably damaging	Het
Git1	C	T	11: 77,397,309 (GRCm39)	P721S	possibly damaging	Het
Hcn3	T	C	3: 89,055,570 (GRCm39)	E559G	probably benign	Het
Invs	G	A	4: 48,421,674 (GRCm39)	A769T	probably benign	Het
Ism2	T	A	12: 87,333,809 (GRCm39)	T79S	possibly damaging	Het
Lamb1	G	A	12: 31,377,773 (GRCm39)	E1673K	possibly damaging	Het
Lmtk2	T	A	5: 144,111,656 (GRCm39)	L792H	probably benign	Het
Lnpk	A	T	2: 74,352,543 (GRCm39)	S380T	probably benign	Het
Mff	A	G	1: 82,708,848 (GRCm39)	I66V	probably benign	Het
Mtor	A	G	4: 148,623,284 (GRCm39)	K2045E	probably benign	Het
Mycbp2	C	A	14: 103,364,120 (GRCm39)	W4393L	probably damaging	Het
Or1e31	T	A	11: 73,690,407 (GRCm39)	M59L	possibly damaging	Het
Or8k32	A	T	2: 86,368,512 (GRCm39)	V249E	probably damaging	Het
Pcdha5	A	G	18: 37,094,733 (GRCm39)	D414G	probably damaging	Het
Pknox2	T	C	9: 36,835,022 (GRCm39)	E149G	probably damaging	Het
Plxdc2	A	G	2: 16,665,666 (GRCm39)	R240G	probably benign	Het
Polr3d	A	T	14: 70,676,927 (GRCm39)	F389Y	possibly damaging	Het
Prex1	T	G	2: 166,427,664 (GRCm39)	D826A	probably damaging	Het
Prss50	T	A	9: 110,691,454 (GRCm39)	S253T	probably damaging	Het
Ptgfrn	T	C	3: 100,957,459 (GRCm39)	D705G	probably damaging	Het
Ptpn21	T	A	12: 98,655,335 (GRCm39)	N544I	probably damaging	Het
Rbm5	G	A	9: 107,622,141 (GRCm39)	P611L	probably damaging	Het
Rev3l	A	T	10: 39,618,685 (GRCm39)		probably benign	Het
Rnf139	T	C	15: 58,770,595 (GRCm39)	Y207H	probably benign	Het
Scn11a	C	T	9: 119,613,082 (GRCm39)	R836H	probably benign	Het
Slc30a1	A	G	1: 191,639,212 (GRCm39)	T32A	probably damaging	Het
Smad4	T	A	18: 73,810,982 (GRCm39)	M1L	probably benign	Het
Sos1	T	C	17: 80,759,561 (GRCm39)	D190G	possibly damaging	Het
Sptbn1	C	T	11: 30,068,464 (GRCm39)	D1677N	probably damaging	Het
Tmem132e	G	A	11: 82,335,923 (GRCm39)	D1002N	probably damaging	Het
Usp8	C	A	2: 126,584,401 (GRCm39)	Q526K	probably benign	Het
Wt1	A	G	2: 105,002,597 (GRCm39)	S488G	probably benign	Het
Zbtb43	A	G	2: 33,344,272 (GRCm39)	S318P	probably benign	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
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
R9722:Gemin5	UTSW	11	58,041,418 (GRCm39)	missense	probably damaging	1.00
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'- TGTGTATGAGGGCAGACAGC -3'
(R):5'- GCAGATTCTAGTCTCCGTGTG -3'

Sequencing Primer
(F):5'- AGACAGCTTCTAGCCTGTGAC -3'
(R):5'- GCGCTAAGAAGAGGATTTAGTTTCTC -3'

Posted On

2017-06-26